# 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: HP: Human Phenotype # 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 HP:0001249 Intellectual disability IAGP RGD:38597530 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 10002959 CA3-AS1 CA3 antisense RNA 1 gene HP:0012758 Neurodevelopmental delay IAGP RGD:153348430 H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental delay PMID:25741868 10041077 CV185740 NM_001029.5(RPS26):c.259C>T (p.Arg87Ter) variant HP:0004810 Congenital hypoplastic anemia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:19816270|PMID:20116044|PMID:23718193|PMID:24675553|PMID:24942156|PMID:28492532 10041107 CV185770 NM_005957.5(MTHFR):c.1320G>A (p.Ser440=) variant HP:0100753 Schizophrenia IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:25736335|PMID:25741868|PMID:28492532 10041111 CV185766 NM_005957.5(MTHFR):c.1632+2T>G variant HP:0100753 Schizophrenia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:16199547|PMID:25736335|PMID:25741868|PMID:28492532 10041112 CV185765 NM_005957.5(MTHFR):c.1683G>A (p.Trp561Ter) variant HP:0045005 Neural tube defect IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25736335|PMID:25741868 10041261 CV186069 NM_000245.4(MET):c.3509G>A (p.Arg1170Gln) variant HP:0005584 Renal cell carcinoma IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:25741868|PMID:28492532 10041262 CV186070 NM_000245.4(MET):c.3876A>G (p.Ile1292Met) variant HP:0005584 Renal cell carcinoma IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Hypernephroma PMID:28492532 10041264 CV186195 NM_015346.4(ZFYVE26):c.2074C>T (p.Leu692Phe) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 10041267 CV186192 NM_015346.4(ZFYVE26):c.5880G>T (p.Arg1960Ser) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 10041273 CV186059 NM_000245.4(MET):c.40C>T (p.Leu14Phe) variant HP:0005584 Renal cell carcinoma IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:25741868|PMID:28492532|PMID:29641532|PMID:35264596 10041281 CV186193 NM_015346.4(ZFYVE26):c.5678G>T (p.Ser1893Ile) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 10041284 CV186068 NM_000245.4(MET):c.3263A>G (p.His1088Arg) variant HP:0005584 Renal cell carcinoma IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:28492532 10041287 CV185964 NM_002156.5(HSPD1):c.794A>G (p.Asn265Ser) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 10041290 CV186066 NM_000245.4(MET):c.2909G>A (p.Arg970His) variant HP:0005584 Renal cell carcinoma IAGP H 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 HP:0011797 Papillary renal cell carcinoma type 1 IAGP H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma type 1 PMID:25741868|PMID:28492532 10041297 CV186065 NM_000245.4(MET):c.2363T>C (p.Val788Ala) variant HP:0005584 Renal cell carcinoma IAGP H 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 HP:0005584 Renal cell carcinoma IAGP H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:28492532 10041309 CV186071 NM_000245.4(MET):c.4144C>T (p.Arg1382Ter) variant HP:0005584 Renal cell carcinoma IAGP H RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:25741868|PMID:28492532|PMID:30093976 10041314 CV186024 NM_001166108.2(PALLD):c.*153A>G variant HP:0006725 Pancreatic adenocarcinoma IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:28492532 10041315 CV186063 NM_000245.4(MET):c.1984A>G (p.Ile662Val) variant HP:0005584 Renal cell carcinoma IAGP H RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:25741868|PMID:28492532 10041317 CV186067 NM_000245.4(MET):c.3065G>A (p.Arg1022Gln) variant HP:0005584 Renal cell carcinoma IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypernephroma PMID:28492532 10041317 CV186067 NM_000245.4(MET):c.3065G>A (p.Arg1022Gln) variant HP:0011797 Papillary renal cell carcinoma type 1 IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma type 1 PMID:28492532 10041318 CV186023 NM_001166108.2(PALLD):c.2353G>T (p.Asp785Tyr) variant HP:0006725 Pancreatic adenocarcinoma IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:28492532 10041329 CV186194 NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20210323 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 HP:0006725 Pancreatic adenocarcinoma IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:28492532 10041335 CV186064 NM_000245.4(MET):c.2198C>T (p.Thr733Ile) variant HP:0005584 Renal cell carcinoma IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:28492532 10041336 CV186191 NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 10041339 CV186010 NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:12872122|PMID:25741868|PMID:28492532 10041342 CV186062 NM_000245.4(MET):c.1715G>A (p.Ser572Asn) variant HP:0002884 Hepatoblastoma IAGP H 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 HP:0005584 Renal cell carcinoma IAGP H 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 HP:0011797 Papillary renal cell carcinoma type 1 IAGP H RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma type 1 PMID:25741868|PMID:27666373|PMID:28492532 10041344 CV186061 NM_000245.4(MET):c.1132G>A (p.Val378Ile) variant HP:0005584 Renal cell carcinoma IAGP H 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 HP:0011797 Papillary renal cell carcinoma type 1 IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma type 1 PMID:25741868|PMID:26887047|PMID:28492532 10041351 CV186196 NM_015346.4(ZFYVE26):c.1184G>T (p.Gly395Val) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 10041355 CV185958 NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15776426|PMID:22550138|PMID:25741868|PMID:26346198|PMID:28492532 10041377 CV186775 NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) variant HP:0005973 Fructose intolerance IAGP H RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: FRUCTOSE INTOLERANCE 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 10041381 CV187020 NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) variant HP:0001939 Abnormality of metabolism/homeostasis IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of metabolism/homeostasis PMID:11182931|PMID:12955717|PMID:16138904|PMID:19206179|PMID:19252935|PMID:22676771|PMID:22704015|PMID:23430855|PMID:25236789|PMID:25741868|PMID:27581084|PMID:28492532 10041385 CV186836 NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) variant HP:0000556 Retinal dystrophy IAGP H 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 10041390 CV187048 NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser) variant HP:0000097 Focal segmental glomerulosclerosis IAGP H RGD:8554872 20210323 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 10041390 CV187048 NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser) variant HP:0000100 Nephrotic syndrome IAGP H 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 10041402 CV186779 NM_000035.4(ALDOB):c.324G>A (p.Lys108=) variant HP:0005973 Fructose intolerance IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: FRUCTOSE INTOLERANCE 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 HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15657609|PMID:16199547|PMID:25616768|PMID:25741868|PMID:28492532|PMID:28795510 10041403 CV186769 NM_019098.5(CNGB3):c.644-1G>C variant HP:0011516 Achromatopsia IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:15657609|PMID:16199547|PMID:25616768|PMID:25741868|PMID:28492532|PMID:28795510 10041404 CV186889 NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) variant HP:0001939 Abnormality of metabolism/homeostasis IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Abnormality of metabolism/homeostasis 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 HP:0005973 Fructose intolerance IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: FRUCTOSE INTOLERANCE PMID:15880727|PMID:16406649|PMID:16630753|PMID:18541450|PMID:20848650|PMID:23114028|PMID:25741868|PMID:28492532|PMID:8438046 10041413 CV186890 NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) variant HP:0200134 Epileptic encephalopathy IAGP H 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 10041426 CV186770 NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter) variant HP:0011516 Achromatopsia IAGP H RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:15459792|PMID:15657609|PMID:15712225|PMID:25741868|PMID:28492532|PMID:28795510 10041428 CV186767 NM_019098.5(CNGB3):c.991-3T>G variant HP:0000556 Retinal dystrophy IAGP H 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 HP:0011516 Achromatopsia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:15657609|PMID:16319819|PMID:25741868|PMID:28492532|PMID:28795510|PMID:30418171 10041432 CV186811 NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro) variant HP:0005978 Type II diabetes mellitus IAGP H RGD:8554872 20230110 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 HP:0005973 Fructose intolerance IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: FRUCTOSE INTOLERANCE PMID:15532022|PMID:20848650|PMID:23430936|PMID:25741868 10041435 CV186768 NM_019098.5(CNGB3):c.646C>T (p.Arg216Ter) variant HP:0011516 Achromatopsia IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:15657609|PMID:28492532|PMID:28795510 10041441 CV186937 NM_000520.6(HEXA):c.947dup (p.Tyr316Ter) variant HP:0025754 Reduced beta-hexosaminidase A activity IAGP H RGD:8554872 20240820 ClinVar ClinVar Annotator: match by term: Hexosaminidase A Deficiency PMID:16088929 10041442 CV186871 NM_014363.6(SACS):c.2439_2440del (p.Val815fs) variant HP:0001258 Spastic paraplegia IAGP H 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 10041442 CV186871 NM_014363.6(SACS):c.2439_2440del (p.Val815fs) variant HP:0011442 Abnormal central motor function IAGP H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormal central motor function 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 HP:0000510 Rod-cone dystrophy IAGP H 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 10041447 CV186815 NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter) variant HP:0005978 Type II diabetes mellitus IAGP H RGD:8554872 20230110 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 10041450 CV186867 NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:22816526|PMID:25741868|PMID:28492532 10041454 CV186675 NM_174878.3(CLRN1):c.502dup (p.Ile168fs) variant HP:0000510 Rod-cone dystrophy IAGP H 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 HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17893653|PMID:22952768|PMID:23304067|PMID:25741868|PMID:26338283|PMID:28492532 10041461 CV186693 NM_000128.4(F11):c.1556G>A (p.Trp519Ter) variant HP:0001892 Abnormal bleeding IAGP H 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 10041470 CV186814 NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) variant HP:0005978 Type II diabetes mellitus IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type II 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 10041475 CV186865 NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) variant HP:0001258 Spastic paraplegia IAGP H 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 HP:0001892 Abnormal bleeding IAGP H 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 10041477 CV186683 NM_000128.4(F11):c.408C>A (p.Cys136Ter) variant HP:0001892 Abnormal bleeding IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:15531455|PMID:16835901|PMID:23929304|PMID:25741868|PMID:28492532|PMID:31064749 10041478 CV186816 NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) variant HP:0005978 Type II diabetes mellitus IAGP H 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 10041485 CV186936 NM_000520.6(HEXA):c.986+3A>G variant HP:0025754 Reduced beta-hexosaminidase A activity IAGP H RGD:8554872 20240820 ClinVar ClinVar Annotator: match by term: Hexosaminidase A Deficiency PMID:17576681|PMID:20100466|PMID:23035047|PMID:24518553|PMID:25741868|PMID:28492532|PMID:7551830|PMID:9150157|PMID:9536098 10041487 CV186812 NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) variant HP:0005978 Type II diabetes mellitus IAGP H 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 10041500 CV186933 NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter) variant HP:0025754 Reduced beta-hexosaminidase A activity IAGP H RGD:8554872 20240820 ClinVar ClinVar Annotator: match by term: Hexosaminidase A Deficiency PMID:21567908|PMID:22789865|PMID:24518553|PMID:25741868|PMID:27896118|PMID:28492532|PMID:33547378 10041504 CV186679 NM_000027.4(AGA):c.34G>T (p.Val12Leu) variant HP:0012068 Aspartylglucosaminuria IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Aspartylglucosaminuria PMID:11309371|PMID:28492532 10041508 CV186766 NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) variant HP:0000556 Retinal dystrophy IAGP H 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 10041508 CV186766 NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) variant HP:0011516 Achromatopsia IAGP H 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 10041510 CV186752 NM_000466.3(PEX1):c.2730del (p.Leu910fs) variant HP:0000556 Retinal dystrophy IAGP H 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 10041512 CV186780 NM_000035.4(ALDOB):c.113-1_115del variant HP:0005973 Fructose intolerance IAGP H RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FRUCTOSE INTOLERANCE PMID:15880727|PMID:16199547|PMID:1772121|PMID:18541450|PMID:2349937|PMID:25741868|PMID:28492532|PMID:34162028|PMID:9610797 10041535 CV186655 NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) variant HP:0001939 Abnormality of metabolism/homeostasis IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of metabolism/homeostasis PMID:10394939|PMID:10453743|PMID:11562405|PMID:17460142|PMID:24988064|PMID:25629080|PMID:25741868|PMID:26252291|PMID:28492532|PMID:33691640 10041538 CV186764 NM_019098.5(CNGB3):c.1578+1G>A variant HP:0000556 Retinal dystrophy IAGP H 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 HP:0011516 Achromatopsia IAGP H 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 10041549 CV186934 NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs) variant HP:0025754 Reduced beta-hexosaminidase A activity IAGP H RGD:8554872 20240820 ClinVar ClinVar Annotator: match by term: Hexosaminidase A Deficiency PMID:1833974|PMID:22441121|PMID:28492532|PMID:8490625 10041573 CV186820 NM_000352.6(ABCC8):c.291-2A>G variant HP:0005978 Type II diabetes mellitus IAGP H 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 HP:0008255 Transient neonatal diabetes mellitus IAGP H 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 10041574 CV186624 NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter) variant HP:0000556 Retinal dystrophy IAGP H 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 10041579 CV186905 NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) variant HP:0002497 Spastic ataxia IAGP H 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 10041586 CV186817 NM_000352.6(ABCC8):c.2124_2127del (p.Leu708_Thr709insTer) variant HP:0008255 Transient neonatal diabetes mellitus IAGP H 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 10041589 CV186940 NM_000520.6(HEXA):c.2T>C (p.Met1Thr) variant HP:0025754 Reduced beta-hexosaminidase A activity IAGP H RGD:8554872 20240820 ClinVar ClinVar Annotator: match by term: Hexosaminidase A Deficiency PMID:11161796|PMID:16088929|PMID:25326635|PMID:25741868|PMID:28492532|PMID:3837850|PMID:8445615 10041611 CV186870 NM_014363.6(SACS):c.3328dup (p.Ile1110fs) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:12873855|PMID:25741868|PMID:28492532 10041616 CV186935 NM_000520.6(HEXA):c.1123del (p.Glu375fs) variant HP:0025754 Reduced beta-hexosaminidase A activity IAGP H RGD:8554872 20240820 ClinVar ClinVar Annotator: match by term: Hexosaminidase A Deficiency PMID:16088929|PMID:16698036|PMID:1833974|PMID:23820084|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31076878|PMID:8490625 10041620 CV186869 NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter) variant HP:0001258 Spastic paraplegia IAGP H 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 10041622 CV186939 NM_000520.6(HEXA):c.570+1G>A variant HP:0025754 Reduced beta-hexosaminidase A activity IAGP H RGD:8554872 20240820 ClinVar ClinVar Annotator: match by term: Hexosaminidase A Deficiency PMID:10083731|PMID:16199547|PMID:1833974|PMID:26467025|PMID:28492532|PMID:7749419|PMID:8490625 10041627 CV187074 NM_000390.4(CHM):c.116+1G>A variant HP:0000556 Retinal dystrophy IAGP H 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 HP:0001139 Choroideremia IAGP H 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 HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15657609|PMID:28492532|PMID:28795510 10041634 CV185756 NM_014362.4(HIBCH):c.950G>A (p.Gly317Glu) variant HP:6000215 Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity IAGP H RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: 3-hydroxyisobutyryl-CoA hydrolase deficiency PMID:24299452|PMID:25741868 10041636 CV185948 NM_004608.4(TBX6):c.434C>T (p.Pro145Leu) variant HP:0002650 Scoliosis IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25564734|PMID:25741868|PMID:28054739|PMID:28492532|PMID:31015262|PMID:31471994 10041652 CV187092 NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) variant HP:0002497 Spastic ataxia IAGP H 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 10041691 CV186544 NM_007294.4(BRCA1):c.4185+14G>C variant HP:0003002 Breast carcinoma IAGP H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Breast cancer PMID:25741868|PMID:28492532 10041702 CV186443 NM_000059.4(BRCA2):c.1594G>A (p.Glu532Lys) variant HP:0003002 Breast carcinoma IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer PMID:25741868|PMID:26467025|PMID:28492532|PMID:31911673 10041713 CV186564 NM_001943.5(DSG2):c.-41_-21del variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10041717 CV186571 NM_001943.5(DSG2):c.523+24del variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041719 CV186572 NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10041721 CV186574 NM_001943.5(DSG2):c.1643G>A (p.Arg548His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041724 CV186323 NM_004415.4(DSP):c.897C>T (p.Ser299=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041726 CV186326 NM_004415.4(DSP):c.1352G>A (p.Arg451His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:27532257|PMID:28492532|PMID:31194698 10041727 CV186327 NM_004415.4(DSP):c.1419+27_1419+28del variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10041729 CV186329 NM_004415.4(DSP):c.2121C>T (p.Asn707=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041730 CV186330 NM_004415.4(DSP):c.2822G>A (p.Arg941Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26743238|PMID:28492532 10041732 CV186332 NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041735 CV186335 NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:31983221 10041736 CV186336 NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 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 HP:0001638 Cardiomyopathy IAGP H 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 10041739 CV186340 NM_004415.4(DSP):c.7125G>A (p.Gly2375=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041742 CV186553 NM_000152.5(GAA):c.676C>G (p.Leu226Val) variant HP:0001663 Ventricular fibrillation IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:25741868|PMID:28492532|PMID:29149851 10041753 CV186436 NM_001110219.3(GJB6):c.326G>A (p.Gly109Glu) variant HP:0007529 Hidrotic ectodermal dysplasia IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 10041754 CV186435 NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys) variant HP:0007529 Hidrotic ectodermal dysplasia IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:24033266|PMID:25741868|PMID:28492532 10041769 CV186313 NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041772 CV186415 NM_000256.3(MYBPC3):c.88G>A (p.Glu30Lys) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041775 CV186412 NM_000256.3(MYBPC3):c.188G>A (p.Arg63Gln) variant HP:0001638 Cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10041777 CV186410 NM_000256.3(MYBPC3):c.339C>T (p.Ala113=) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24440382|PMID:25741868|PMID:29192238|PMID:33588347|PMID:38296580 10041778 CV186409 NM_000256.3(MYBPC3):c.446C>T (p.Ala149Val) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10041782 CV186405 NM_000256.3(MYBPC3):c.654+18G>A variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10041783 CV186404 NM_000256.3(MYBPC3):c.655-18G>A variant HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041791 CV186396 NM_000256.3(MYBPC3):c.909C>T (p.Asp303=) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041797 CV186390 NM_000256.3(MYBPC3):c.1224-52G>A variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10041808 CV186380 NM_000256.3(MYBPC3):c.1625-12C>T variant HP:0001638 Cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:27532257|PMID:28492532 10041816 CV186371 NM_000256.3(MYBPC3):c.2189C>T (p.Thr730Ile) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041818 CV186369 NM_000256.3(MYBPC3):c.2217G>T (p.Glu739Asp) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041819 CV186368 NM_000256.3(MYBPC3):c.2308+18C>G variant HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10041822 CV186365 NM_000256.3(MYBPC3):c.2435A>G (p.Lys812Arg) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041824 CV186363 NM_000256.3(MYBPC3):c.2808G>A (p.Thr936=) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041825 CV186362 NM_000256.3(MYBPC3):c.2846dup (p.Met949fs) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:32841044|PMID:33495597 10041828 CV186359 NM_000256.3(MYBPC3):c.3103G>A (p.Ala1035Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:27600940|PMID:28492532|PMID:30847666|PMID:36328362 10041828 CV186359 NM_000256.3(MYBPC3):c.3103G>A (p.Ala1035Thr) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041829 CV186358 NM_000256.3(MYBPC3):c.3143G>A (p.Arg1048His) variant HP:0005157 Concentric hypertrophic cardiomyopathy IAGP H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041829 CV186358 NM_000256.3(MYBPC3):c.3143G>A (p.Arg1048His) variant HP:0011664 Left ventricular noncompaction cardiomyopathy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532 10041832 CV186355 NM_000256.3(MYBPC3):c.3279C>T (p.Gly1093=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041832 CV186355 NM_000256.3(MYBPC3):c.3279C>T (p.Gly1093=) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041834 CV186353 NM_000256.3(MYBPC3):c.3373G>T (p.Val1125Leu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10041834 CV186353 NM_000256.3(MYBPC3):c.3373G>T (p.Val1125Leu) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041835 CV186352 NM_000256.3(MYBPC3):c.3414C>T (p.Arg1138=) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041836 CV186351 NM_000256.3(MYBPC3):c.3486A>T (p.Arg1162Ser) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10041841 CV186346 NM_000256.3(MYBPC3):c.3737T>C (p.Phe1246Ser) variant HP:0001638 Cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041842 CV186345 NM_000256.3(MYBPC3):c.3741C>T (p.Asp1247=) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041844 CV186343 NM_000256.3(MYBPC3):c.3803T>C (p.Leu1268Pro) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10041853 CV186509 NM_000257.4(MYH7):c.733-16del variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10041854 CV186508 NM_000257.4(MYH7):c.797-17T>C variant HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10041859 CV186503 NM_000257.4(MYH7):c.936C>T (p.Phe312=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041859 CV186503 NM_000257.4(MYH7):c.936C>T (p.Phe312=) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041864 CV186498 NM_000257.4(MYH7):c.1887G>A (p.Ala629=) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041867 CV186495 NM_000257.4(MYH7):c.2162+9G>A variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10041868 CV186494 NM_000257.4(MYH7):c.2334C>A (p.Asp778Glu) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041871 CV186491 NM_000257.4(MYH7):c.2812G>T (p.Ala938Ser) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041873 CV186489 NM_000257.4(MYH7):c.2923-18G>A variant HP:0001638 Cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041876 CV186486 NM_000257.4(MYH7):c.3270C>T (p.Leu1090=) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 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 HP:0011664 Left ventricular noncompaction cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Left ventricular non-compaction 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 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 HP:0001638 Cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041890 CV186472 NM_000257.4(MYH7):c.4644+24G>T variant HP:0001638 Cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10041894 CV186468 NM_000257.4(MYH7):c.5139G>A (p.Val1713=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041894 CV186468 NM_000257.4(MYH7):c.5139G>A (p.Val1713=) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041897 CV186465 NM_000257.4(MYH7):c.5400C>T (p.Ala1800=) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041901 CV186461 NM_000257.4(MYH7):c.5771G>T (p.Ser1924Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24714796|PMID:25741868|PMID:29300372 10041902 CV186460 NM_000257.4(MYH7):c.*20G>A variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868 10041902 CV186460 NM_000257.4(MYH7):c.*20G>A variant HP:0009054 Scapuloperoneal myopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Scapuloperoneal myopathy PMID:25741868 10041902 CV186460 NM_000257.4(MYH7):c.*20G>A variant HP:0011664 Left ventricular noncompaction cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Left ventricular non-compaction cardiomyopathy PMID:25741868 10041905 CV186430 NM_001005242.3(PKP2):c.224-3C>G variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 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 10041907 CV186426 NM_001005242.3(PKP2):c.804C>T (p.Val268=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041908 CV186423 NM_001005242.3(PKP2):c.2121G>A (p.Ser707=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041911 CV186418 NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:32553227 10041914 CV186585 NM_000363.5(TNNI3):c.-47C>T variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:25940119 10041917 CV186582 NM_000363.5(TNNI3):c.151-8C>T variant HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041922 CV186577 NM_000363.5(TNNI3):c.471G>A (p.Ala157=) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041925 CV186309 NM_001276345.2(TNNT2):c.42-20G>A variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041929 CV186305 NM_001276345.2(TNNT2):c.200-11A>G variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10041931 CV186303 NM_001276345.2(TNNT2):c.406A>T (p.Arg136Trp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10041939 CV186517 NM_001018005.2(TPM1):c.82G>T (p.Asp28Tyr) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041944 CV186522 NM_001018005.2(TPM1):c.560A>T (p.Glu187Val) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10041952 CV186531 NM_001018005.2(TPM1):c.773-18T>C variant HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868 10042004 CV186975 NM_004937.3(CTNS):c.809_811del (p.Ser270del) variant HP:0000100 Nephrotic syndrome IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:10556299|PMID:19580442|PMID:24464559|PMID:25741868|PMID:29127259 10042015 CV187198 NM_001098.3(ACO2):c.220C>G (p.Leu74Val) variant HP:0000556 Retinal dystrophy IAGP H 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 10042015 CV187198 NM_001098.3(ACO2):c.220C>G (p.Leu74Val) variant HP:0000648 Optic atrophy IAGP H 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 10042016 CV187199 NM_001098.3(ACO2):c.1981G>A (p.Gly661Arg) variant HP:0000648 Optic atrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25351951|PMID:25741868|PMID:28492532|PMID:34056600 10042019 CV187202 NM_001098.3(ACO2):c.2328_2331del (p.Lys776fs) variant HP:0000648 Optic atrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25351951|PMID:25741868|PMID:2854533 10042023 CV187219 NM_001146079.2(CLDN14):c.242G>A (p.Arg81His) variant HP:0000365 Hearing impairment IAGP H RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:22246673|PMID:23235333|PMID:25741868|PMID:28492532|PMID:30311386 10042032 CV187254 NM_004990.4(MARS1):c.1814A>T (p.Asp605Val) variant HP:0006517 Intraalveolar phospholipid accumulation IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Pulmonary alveolar proteinosis PMID:25913036 10042045 CV186055 NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) variant HP:0000113 Polycystic kidney dysplasia IAGP H 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 HP:0011040 Abnormal intrahepatic bile duct morphology IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Abnormal intrahepatic bile duct morphology 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 10042060 CV186716 NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg) variant HP:0000113 Polycystic kidney dysplasia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:21790888|PMID:28492532 10042061 CV186708 NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) variant HP:0000113 Polycystic kidney dysplasia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:15805161|PMID:16133180|PMID:24033266|PMID:28492532 10042065 CV186710 NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) variant HP:0000113 Polycystic kidney dysplasia IAGP H 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 10042066 CV186919 NM_000153.4(GALC):c.908+1G>A variant HP:0000707 Abnormality of the nervous system IAGP H 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 10042078 CV186718 NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) variant HP:0000113 Polycystic kidney dysplasia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:15108281|PMID:16523049|PMID:19940839|PMID:25741868|PMID:28492532 10042083 CV186713 NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter) variant HP:0000107 Renal cyst IAGP H RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Renal cyst PMID:12874454|PMID:19940839|PMID:25741868|PMID:26695994|PMID:28492532 10042083 CV186713 NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter) variant HP:0000113 Polycystic kidney dysplasia IAGP H 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 HP:0001714 Ventricular hypertrophy IAGP H RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ventricular hypertrophy PMID:12874454|PMID:19940839|PMID:25741868|PMID:26695994|PMID:28492532 10042086 CV186709 NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) variant HP:0000113 Polycystic kidney dysplasia IAGP H 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 HP:0000119 Abnormality of the genitourinary system IAGP H RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the genitourinary system PMID:19940839|PMID:19940939|PMID:25701400|PMID:25741868|PMID:27225849|PMID:28492532|PMID:29956005 10042108 CV185997 NM_000179.3(MSH6):c.2203C>A (p.Leu735Ile) variant HP:0012114 Endometrial carcinoma IAGP H RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868|PMID:26467025|PMID:26580448|PMID:28492532|PMID:31613886|PMID:32634176 10042117 CV186210 NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma PMID:25741868|PMID:26283626|PMID:28492532|PMID:28779002|PMID:32546565|PMID:33471991 10042124 CV185974 NM_000251.3(MSH2):c.67T>C (p.Phe23Leu) variant HP:0003002 Breast carcinoma IAGP H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Breast cancer PMID:25420488|PMID:25741868|PMID:26467025|PMID:27974047|PMID:28492532 10042136 CV186005 NM_000179.3(MSH6):c.4005A>C (p.Glu1335Asp) variant HP:0012114 Endometrial carcinoma IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:23523604|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33471991 10042139 CV186144 NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn) variant HP:0003002 Breast carcinoma IAGP H RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Breast cancer PMID:12697903|PMID:19781682|PMID:21787400|PMID:25231023|PMID:25741868|PMID:26787654|PMID:26976419|PMID:28135145|PMID:28492532|PMID:30093976|PMID:30455982 10042161 CV186000 NM_000179.3(MSH6):c.3740C>G (p.Thr1247Ser) variant HP:0012114 Endometrial carcinoma IAGP H RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868|PMID:26467025|PMID:28492532|PMID:32255556|PMID:33471991|PMID:35449176 10042163 CV185989 NM_000179.3(MSH6):c.533G>A (p.Arg178His) variant HP:0003002 Breast carcinoma IAGP H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cancer breast PMID:25085752|PMID:25224212|PMID:25741868|PMID:26467025|PMID:28492532 10042163 CV185989 NM_000179.3(MSH6):c.533G>A (p.Arg178His) variant HP:0012114 Endometrial carcinoma IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25085752|PMID:25224212|PMID:25741868|PMID:26467025|PMID:28492532 10042172 CV185986 NM_000251.3(MSH2):c.2354A>G (p.His785Arg) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25637381|PMID:25741868|PMID:28492532|PMID:30798936|PMID:33357406|PMID:33471991 10042175 CV186271 NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu) variant HP:0100615 Ovarian neoplasm IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ovarian neoplasm PMID:25741868|PMID:26315354|PMID:26467025|PMID:28492532|PMID:31206626|PMID:31214711|PMID:33309985|PMID:33471991 10042188 CV186137 NM_000051.4(ATM):c.902G>A (p.Gly301Asp) variant HP:0003002 Breast carcinoma IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cancer 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 10042200 CV186266 NM_032043.3(BRIP1):c.3374_3376del (p.Ala1125del) variant HP:0003002 Breast carcinoma IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer PMID:25741868|PMID:26921362|PMID:28492532|PMID:32885271 10042201 CV186665 NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer) variant HP:0100950 Decreased 3-hydroxyacyl-CoA dehydrogenase level IAGP H 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 10042206 CV186605 NM_014625.4(NPHS2):c.503G>A (p.Arg168His) variant HP:0000100 Nephrotic syndrome IAGP H 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 10042206 CV186605 NM_014625.4(NPHS2):c.503G>A (p.Arg168His) variant HP:0012588 Steroid-resistant nephrotic syndrome IAGP H 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 10042207 CV186802 NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) variant HP:0012126 Stomach cancer IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Stomach 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 10042213 CV187051 NM_000071.3(CBS):c.1566del (p.Lys523fs) variant HP:0002156 Homocystinuria IAGP H 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 HP:0002156 Homocystinuria IAGP H 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 10042219 CV187055 NM_000071.3(CBS):c.1039G>A (p.Gly347Ser) variant HP:0002156 Homocystinuria IAGP H 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 HP:0000097 Focal segmental glomerulosclerosis IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glomerulosclerosis, focal 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 HP:0012588 Steroid-resistant nephrotic syndrome IAGP H 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 HP:0012593 Nephrotic range proteinuria IAGP H 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 HP:0012622 Chronic kidney disease IAGP H 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 HP:0002156 Homocystinuria IAGP H 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 HP:0002156 Homocystinuria IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Homocystinuria PMID:10338090|PMID:12124992|PMID:20871414|PMID:21520339|PMID:25741868|PMID:28492532 10042236 CV187058 NM_000071.3(CBS):c.667-14_667-7del variant HP:0002156 Homocystinuria IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Homocystinuria PMID:17576681|PMID:21520339|PMID:25741868|PMID:28492532|PMID:28980096|PMID:34449521|PMID:9536098 10042238 CV187056 NM_000071.3(CBS):c.770C>T (p.Thr257Met) variant HP:0002156 Homocystinuria IAGP H 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 10042240 CV187059 NM_000071.3(CBS):c.362G>A (p.Arg121His) variant HP:0002156 Homocystinuria IAGP H 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 10042245 CV186666 NM_000182.5(HADHA):c.1793_1794del (p.His598fs) variant HP:0100950 Decreased 3-hydroxyacyl-CoA dehydrogenase level IAGP H 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 10042249 CV186667 NM_000182.5(HADHA):c.703C>T (p.Arg235Trp) variant HP:0100950 Decreased 3-hydroxyacyl-CoA dehydrogenase level IAGP H 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 10042252 CV186602 NM_014625.4(NPHS2):c.948del (p.Ala317fs) variant HP:0012588 Steroid-resistant nephrotic syndrome IAGP H 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 10042261 CV186800 NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) variant HP:0012126 Stomach cancer IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Stomach 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 10042267 CV186664 NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs) variant HP:0100950 Decreased 3-hydroxyacyl-CoA dehydrogenase level IAGP H 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 10042270 CV186668 NM_000182.5(HADHA):c.274_278del (p.Ser92fs) variant HP:0100950 Decreased 3-hydroxyacyl-CoA dehydrogenase level IAGP H 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 10042282 CV187062 NM_000071.3(CBS):c.302T>C (p.Leu101Pro) variant HP:0002156 Homocystinuria IAGP H 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 HP:0004919 Galactose intolerance IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Galactose intolerance 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 10042283 CV186785 NM_000155.4(GALT):c.775C>T (p.Arg259Trp) variant HP:0012024 Hypergalactosemia IAGP H 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 10042289 CV187213 NM_000335.5(SCN5A):c.1338+2T>A variant HP:0011675 Arrhythmia IAGP H 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 10042290 CV187243 NM_004214.5(FIBP):c.652C>T (p.Gln218Ter) variant HP:0000256 Macrocephaly IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Megacephaly PMID:26660953 10042290 CV187243 NM_004214.5(FIBP):c.652C>T (p.Gln218Ter) variant HP:0001176 Large hands IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: large hand PMID:26660953 10042290 CV187243 NM_004214.5(FIBP):c.652C>T (p.Gln218Ter) variant HP:0001548 Overgrowth IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: General overgrowth PMID:26660953 10042290 CV187243 NM_004214.5(FIBP):c.652C>T (p.Gln218Ter) variant HP:0001999 Abnormal facial shape IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: facial dysmorphism PMID:26660953 10042300 CV187330 NM_000314.8(PTEN):c.106G>C (p.Gly36Arg) variant HP:0000256 Macrocephaly IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: large head PMID:10772390|PMID:21828076|PMID:25741868|PMID:28492532 10042302 CV187337 NM_000314.8(PTEN):c.182A>G (p.His61Arg) variant HP:0100615 Ovarian neoplasm IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ovarian neoplasm PMID:10866302|PMID:11748304|PMID:18025323|PMID:20600018|PMID:21194675|PMID:21659347|PMID:24778394|PMID:28492532|PMID:28526761|PMID:29706350|PMID:29785012 10042306 CV187355 NM_000314.8(PTEN):c.407G>A (p.Cys136Tyr) variant HP:0009725 Bladder neoplasm IAGP H RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Bladder cancer PMID:10848731|PMID:10866302|PMID:16773562|PMID:20600018|PMID:21194675|PMID:21659347|PMID:23886400|PMID:24778394|PMID:25669429|PMID:28492532|PMID:29706350|PMID:9735393 10042309 CV187359 NM_000314.8(PTEN):c.493-1G>A variant HP:0012126 Stomach cancer IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Stomach cancer PMID:16199547|PMID:17526801|PMID:21194675|PMID:25363760|PMID:27824329|PMID:28191890|PMID:28492532|PMID:28677221|PMID:31332282|PMID:36988593|PMID:9467011 10042312 CV187362 NM_000314.8(PTEN):c.512A>G (p.Gln171Arg) variant HP:0012125 Prostate cancer IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Prostate cancer PMID:22970944|PMID:25741868|PMID:28492532|PMID:29706350|PMID:29785012|PMID:34943931|PMID:35227301 10042371 CV187338 NM_000314.8(PTEN):c.202T>C (p.Tyr68His) variant HP:0012125 Prostate cancer IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prostate cancer 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 10042396 CV187363 NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) variant HP:0012125 Prostate cancer IAGP H 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 HP:0012758 Neurodevelopmental delay IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Neurodevelopmental delay 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 10042416 CV186116 NM_020975.6(RET):c.548G>A (p.Gly183Asp) variant HP:0002666 Pheochromocytoma IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:25741868|PMID:28492532 10042418 CV186117 NM_020975.6(RET):c.972G>C (p.Trp324Cys) variant HP:0000104 Renal agenesis IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: RENAL APLASIA PMID:11955539|PMID:15956201|PMID:16732321|PMID:25741868|PMID:28492532|PMID:8114938 10042418 CV186117 NM_020975.6(RET):c.972G>C (p.Trp324Cys) variant HP:0002666 Pheochromocytoma IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:11955539|PMID:15956201|PMID:16732321|PMID:25741868|PMID:28492532|PMID:8114938 10042425 CV186152 NM_000218.3(KCNQ1):c.428C>T (p.Ser143Phe) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10042429 CV186018 NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:26230511|PMID:28492532 10042430 CV186073 NM_000238.4(KCNH2):c.2900dup (p.Pro968fs) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:30403391 10042444 CV186118 NM_020975.6(RET):c.1118C>T (p.Ala373Val) variant HP:0000104 Renal agenesis IAGP H RGD:8554872 20220208 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 HP:0002666 Pheochromocytoma IAGP H RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:17108762|PMID:21986619|PMID:21995290|PMID:22574178|PMID:25741868|PMID:28492532 10042449 CV186087 NM_005751.5(AKAP9):c.883A>G (p.Thr295Ala) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10042450 CV186151 NM_000890.5(KCNJ5):c.121C>T (p.Arg41Cys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10042515 CV187116 NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs) variant HP:0012622 Chronic kidney disease IAGP H 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 10042517 CV187125 NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) variant HP:0000851 Congenital hypothyroidism IAGP H 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 10042518 CV187115 NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) variant HP:0000510 Rod-cone dystrophy IAGP H 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 HP:0000556 Retinal dystrophy IAGP H 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 10042526 CV187120 NM_000289.6(PFKM):c.237+1G>A variant HP:0003201 Rhabdomyolysis IAGP H 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 10042532 CV187118 NM_006019.4(TCIRG1):c.1674-1G>A variant HP:0011002 Osteopetrosis IAGP H 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 10042534 CV187105 NM_019026.6(TMCO1):c.87_90del (p.Val30fs) variant HP:0005387 Combined immunodeficiency IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:20018682|PMID:23320496|PMID:24033266|PMID:24194475|PMID:24424126|PMID:25627829 10042536 CV187108 NM_206933.4(USH2A):c.1214del (p.Asn405fs) variant HP:0000556 Retinal dystrophy IAGP H 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 HP:0005978 Type II diabetes mellitus IAGP H 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 10042552 CV187402 NM_005249.5(FOXG1):c.256dup (p.Gln86fs) variant HP:0000707 Abnormality of the nervous system IAGP H 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 10042605 CV186253 NM_001042492.3(NF1):c.4340A>G (p.Gln1447Arg) variant HP:0012209 Juvenile myelomonocytic leukemia IAGP H 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 10042609 CV186247 NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) variant HP:0000957 Cafe-au-lait spot IAGP H 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 HP:0000997 Axillary freckling IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Axillary freckling 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 HP:0002859 Rhabdomyosarcoma IAGP H 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 HP:0009734 Optic nerve glioma IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Optic nerve glioma 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 10042620 CV186567 NM_001943.5(DSG2):c.523+1G>A variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:16199547|PMID:17105751|PMID:25741868|PMID:26822237|PMID:27532257|PMID:28492532|PMID:30790397|PMID:31386562|PMID:36264615 10042635 CV186429 NM_001005242.3(PKP2):c.253_256del (p.Glu85fs) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 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 10042637 CV186425 NM_001005242.3(PKP2):c.1170+1G>A variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:16199547|PMID:20400443|PMID:23911551|PMID:25741868|PMID:26887364|PMID:28492532 10042643 CV186636 NM_000110.4(DPYD):c.61C>T (p.Arg21Ter) variant HP:0003654 Reduced dihydropyrimidine dehydrogenase level IAGP H 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 HP:0003654 Reduced dihydropyrimidine dehydrogenase level IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency PMID:22353294|PMID:25741868|PMID:32973300 10042815 CV186009 NM_000551.4(VHL):c.167C>T (p.Ala56Val) variant HP:0002666 Pheochromocytoma IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:25741868|PMID:28492532|PMID:29748190 10042815 CV186009 NM_000551.4(VHL):c.167C>T (p.Ala56Val) variant HP:0006770 Clear cell renal cell carcinoma IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:25741868|PMID:28492532|PMID:29748190 10042829 CV187315 NM_000314.8(PTEN):c.-666G>A variant HP:0012125 Prostate cancer IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Prostate cancer PMID:25741868 10042919 CV187662 NM_001164688.2(RD3):c.112C>T (p.Arg38Ter) variant HP:0000478 Abnormality of the eye IAGP H 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 10042919 CV187662 NM_001164688.2(RD3):c.112C>T (p.Arg38Ter) variant HP:0000556 Retinal dystrophy IAGP H 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 10042920 CV187648 NM_021098.3(CACNA1H):c.4645A>G (p.Met1549Val) variant HP:0011736 Primary hyperaldosteronism IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Primary hyperaldosteronism PMID:25907736 10042922 CV186157 NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu) variant HP:0000843 Hyperparathyroidism IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism PMID:25741868|PMID:26767918|PMID:28492532|PMID:30093976 10042924 CV186158 NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu) variant HP:0000843 Hyperparathyroidism IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Elevated blood parathyroid hormone level PMID:25741868|PMID:28492532 10042926 CV186189 NM_000257.4(MYH7):c.2735A>T (p.Lys912Met) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10042929 CV186288 NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:30615648 10042934 CV187698 NM_003001.5(SDHC):c.224G>A (p.Gly75Asp) variant HP:0100723 Gastrointestinal stroma tumor IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Gastrointestinal stroma tumor PMID:19351833|PMID:21822798|PMID:26173966|PMID:28492532 10042942 CV186432 NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) variant HP:0000365 Hearing impairment IAGP H 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 HP:0000407 Sensorineural hearing impairment IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Sensorineural 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 10042948 CV186857 NM_004004.6(GJB2):c.334_335del (p.Lys112fs) variant HP:0000365 Hearing impairment IAGP H 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 10042949 CV186855 NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) variant HP:0000598 Abnormality of the ear IAGP H RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: 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 10042951 CV186864 NM_004004.6(GJB2):c.-23G>T variant HP:0000365 Hearing impairment IAGP H 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 10042957 CV187659 NM_003673.4(TCAP):c.208C>T (p.Arg70Trp) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 10042961 CV166020 NM_016120.4(RLIM):c.1067A>G (p.Tyr356Cys) variant HP:0001263 Global developmental delay IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25735484|PMID:25741868 10043509 TUBB8B tubulin beta 8B gene HP:0000717 Autism IAGP RGD:14351797 H RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10044270 CV188008 NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) variant HP:0100526 Neoplasm of the lung IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:18414213|PMID:25741868|PMID:28492532 10044271 CV188007 NM_000124.4(ERCC6):c.1821+7C>T variant HP:0000608 Macular degeneration IAGP H RGD:8554872 20210706 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 HP:0000608 Macular degeneration IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:18414213|PMID:25741868|PMID:28492532 10044275 CV187999 NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) variant HP:0100526 Neoplasm of the lung IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25741868|PMID:27356891|PMID:28492532|PMID:29572252 10044278 CV187995 NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) variant HP:0000608 Macular degeneration IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:18414213|PMID:25741868|PMID:28492532 10044288 CV187954 NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) variant HP:0012758 Neurodevelopmental delay IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Neurodevelopmental delay PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:29660409|PMID:30302899|PMID:32021601|PMID:33371171 10044310 CV188112 NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) variant HP:0001249 Intellectual disability IAGP H 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 10044312 CV188114 NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Intellectual disability 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 HP:0001263 Global developmental delay IAGP H 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 10044312 CV188114 NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys) variant HP:0012758 Neurodevelopmental delay IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Neurodevelopmental 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 10044330 CV188152 NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu) variant HP:0001250 Seizure IAGP H RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:25751627|PMID:28492532|PMID:28806589|PMID:29050392|PMID:30182498|PMID:33232902 10044336 CV188248 NM_016218.2(POLK):c.560A>C (p.Asp187Ala) variant HP:0012125 Prostate cancer IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Prostate cancer 10044337 CV188253 NM_016218.2(POLK):c.1420G>T (p.Val474Phe) variant HP:0012125 Prostate cancer IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Prostate cancer 10044338 CV188247 NM_016218.2(POLK):c.557C>A (p.Ala186Asp) variant HP:0012125 Prostate cancer IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Prostate cancer 10044339 CV188249 NM_016218.2(POLK):c.609T>C (p.Asn203=) variant HP:0012125 Prostate cancer IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Prostate cancer 10044340 CV188250 NM_016218.2(POLK):c.1353T>G (p.Leu451=) variant HP:0012125 Prostate cancer IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Prostate cancer 10044341 CV188251 NM_016218.2(POLK):c.1380G>A (p.Leu460=) variant HP:0012125 Prostate cancer IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Prostate cancer 10044342 CV188252 NM_016218.2(POLK):c.1385A>G (p.Asn462Ser) variant HP:0012125 Prostate cancer IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Prostate cancer 10044343 CV188264 NM_016218.6(POLK):c.*66T>C variant HP:0012125 Prostate cancer IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Prostatic cancer PMID:26046662 10044344 CV188245 NM_016218.2(POLK):c.181A>G (p.Asn61Asp) variant HP:0012125 Prostate cancer IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Prostate cancer 10044345 CV188259 NM_016218.2(POLK):c.1747T>A (p.Phe583Ile) variant HP:0012125 Prostate cancer IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Prostate cancer 10044346 CV188260 NM_016218.2(POLK):c.1788A>T (p.Ser596=) variant HP:0012125 Prostate cancer IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Prostate cancer 10044347 CV188256 NM_016218.2(POLK):c.1477A>G (p.Lys493Glu) variant HP:0012125 Prostate cancer IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Prostate cancer 10044348 CV188257 NM_016218.2(POLK):c.1556A>C (p.Glu519Ala) variant HP:0012125 Prostate cancer IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Prostate cancer 10044349 CV188265 NM_016218.2(POLK):c.*81T>G variant HP:0012125 Prostate cancer IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Prostate cancer 10044350 CV188254 NM_016218.2(POLK):c.1437T>A (p.Ser479=) variant HP:0012125 Prostate cancer IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Prostate cancer 10044351 CV188255 NM_016218.2(POLK):c.1441G>A (p.Ala481Thr) variant HP:0012125 Prostate cancer IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Prostate cancer 10044366 CV188286 NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr) variant HP:0001488 Bilateral ptosis IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Bilateral ptosis PMID:25537362|PMID:25741868|PMID:28492532|PMID:28518170|PMID:31974414|PMID:32070632 10044366 CV188286 NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr) variant HP:0001989 Fetal akinesia sequence IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Fetal akinesia sequence PMID:25537362|PMID:25741868|PMID:28492532|PMID:28518170|PMID:31974414|PMID:32070632 10044366 CV188286 NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr) variant HP:0002093 Respiratory insufficiency IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Respiratory insufficiency PMID:25537362|PMID:25741868|PMID:28492532|PMID:28518170|PMID:31974414|PMID:32070632 10044366 CV188286 NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr) variant HP:0002194 Delayed gross motor development IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Delayed gross motor development PMID:25537362|PMID:25741868|PMID:28492532|PMID:28518170|PMID:31974414|PMID:32070632 10044366 CV188286 NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr) variant HP:0010307 Stridor IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Stridor PMID:25537362|PMID:25741868|PMID:28492532|PMID:28518170|PMID:31974414|PMID:32070632 10044367 CV188288 NM_002582.4(PARN):c.529C>T (p.Gln177Ter) variant HP:0002206 Pulmonary fibrosis IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:25741868|PMID:25848748|PMID:26810774|PMID:28492532|PMID:9736620 10044369 CV188443 NM_005751.5(AKAP9):c.4693-11del variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10044370 CV188448 NM_005751.5(AKAP9):c.5058+12T>G variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044372 CV188373 NM_001148.6(ANK2):c.2970A>C (p.Arg990=) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044375 CV188472 NM_201596.3(CACNB2):c.121-4_121-3insG variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10044396 CV188285 NM_005592.4(MUSK):c.40dup (p.Thr14fs) variant HP:0001989 Fetal akinesia sequence IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia sequence PMID:25612909 10044397 CV188287 NM_002582.4(PARN):c.246-2A>G variant HP:0002206 Pulmonary fibrosis IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:25741868|PMID:25848748 10044398 CV188289 NM_002582.4(PARN):c.563dup (p.Glu189fs) variant HP:0002206 Pulmonary fibrosis IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:25848748|PMID:26810774|PMID:28492532|PMID:9736620 10044399 CV188291 NM_001283009.2(RTEL1):c.602del (p.Gly201fs) variant HP:0002206 Pulmonary fibrosis IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:25848748 10044400 CV188292 NM_001283009.2(RTEL1):c.1451C>T (p.Pro484Leu) variant HP:0002206 Pulmonary fibrosis IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:25848748|PMID:28492532 10044402 CV188294 NM_001283009.2(RTEL1):c.3371A>C (p.His1124Pro) variant HP:0002206 Pulmonary fibrosis IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:25848748 10044404 CV188441 NM_005751.5(AKAP9):c.4004_4006dup (p.Lys1335_Leu1336insGln) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10044405 CV188612 NM_000719.7(CACNA1C):c.5157C>G (p.Pro1719=) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044417 CV188764 NM_000540.3(RYR1):c.2097_2123del (p.Glu699_Gly707del) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:25476234 10044418 CV188765 RYR1, 3-BP DEL, 7043GAG (rs121918596) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: MINICORE MYOPATHY 10044420 CV188246 NM_016218.2(POLK):c.507C>T (p.Pro169=) variant HP:0012125 Prostate cancer IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Prostate cancer 10044421 CV188270 NM_153747.2(PIGC):c.659T>C (p.Leu220Pro) variant HP:0001790 Nonimmune hydrops fetalis IAGP H 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 HP:0001790 Nonimmune hydrops fetalis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 10044423 CV188269 NM_031282.3(FCRL4):c.847+1G>A variant HP:0001790 Nonimmune hydrops fetalis IAGP H 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 HP:0001790 Nonimmune hydrops fetalis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 10044425 CV188281 NM_018676.4(THSD1):c.617G>A (p.Cys206Tyr) variant HP:0001790 Nonimmune hydrops fetalis IAGP H 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 HP:0001790 Nonimmune hydrops fetalis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 10044427 CV188277 NM_000181.4(GUSB):c.398G>C (p.Trp133Ser) variant HP:0001790 Nonimmune hydrops fetalis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 10044428 CV188279 NM_003506.4(FZD6):c.869A>G (p.Tyr290Cys) variant HP:0001790 Nonimmune hydrops fetalis IAGP H 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 HP:0001790 Nonimmune hydrops fetalis IAGP H 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 HP:0001790 Nonimmune hydrops fetalis IAGP H 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 HP:0001790 Nonimmune hydrops fetalis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 10044432 CV188280 NM_018676.4(THSD1):c.670C>T (p.Arg224Ter) variant HP:0001790 Nonimmune hydrops fetalis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 10044435 CV188738 NM_003098.3(SNTA1):c.311-6G>A variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044438 CV188446 NM_005751.5(AKAP9):c.4927A>C (p.Ile1643Leu) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044442 CV188452 NM_005751.5(AKAP9):c.7034_7036del (p.Arg2345_Glu2346delinsLys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044442 CV188452 NM_005751.5(AKAP9):c.7034_7036del (p.Arg2345_Glu2346delinsLys) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:28492532 10044446 CV188464 NM_005751.5(AKAP9):c.11225G>C (p.Arg3742Pro) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044454 CV188442 NM_005751.5(AKAP9):c.4127G>C (p.Ser1376Thr) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10044456 CV188459 NM_005751.5(AKAP9):c.10254G>C (p.Gln3418His) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28074886|PMID:28492532 10044459 CV188450 NM_005751.4(AKAP9):c.5977C>T (p.Gln1993Ter) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10044460 CV188456 NM_005751.4(AKAP9):c.8831A>G (p.Lys2944Arg) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10044461 CV188434 NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 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 HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532 10044462 CV188333 NM_001148.6(ANK2):c.669+3A>G variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044463 CV188355 NM_001148.6(ANK2):c.2144C>T (p.Thr715Ile) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT 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 HP:0005110 Atrial fibrillation IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Atrial fibrillation 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25351510|PMID:26164358|PMID:28492532 10044470 CV188329 NM_001148.4(ANK2):c.-131714G>A variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10044471 CV188331 NM_001148.6(ANK2):c.176C>T (p.Thr59Ile) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044472 CV188334 NM_001148.6(ANK2):c.827G>A (p.Arg276Lys) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28341588|PMID:28492532|PMID:30415094|PMID:33004838 10044482 CV188357 NM_001148.6(ANK2):c.2266G>A (p.Ala756Thr) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0004756 Ventricular tachycardia IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28191889|PMID:28492532|PMID:33004838 10044485 CV188372 NM_001148.6(ANK2):c.2969G>A (p.Arg990Gln) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044489 CV188387 NM_001148.6(ANK2):c.4016C>T (p.Pro1339Leu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 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 HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001635 Congestive heart failure IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868 10044492 CV188394 NM_001148.6(ANK2):c.10702C>T (p.Arg3568Trp) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0004755 Supraventricular tachycardia IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044509 CV188382 NM_001148.6(ANK2):c.3577C>T (p.Arg1193Cys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044512 CV188390 NM_001148.6(ANK2):c.4369A>G (p.Lys1457Glu) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044522 CV188610 NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044526 CV188620 NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25633834|PMID:25741868|PMID:28492532|PMID:30279520 10044527 CV188621 NM_000719.7(CACNA1C):c.6050T>C (p.Met2017Thr) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001645 Sudden cardiac death IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868|PMID:28492532 10044530 CV188540 NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044531 CV188541 NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg) variant HP:0001657 Prolonged QT interval IAGP H 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 10044533 CV188545 NM_000719.7(CACNA1C):c.1342G>A (p.Asp448Asn) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:32233023 10044535 CV188552 NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044537 CV188554 NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044542 CV188571 NM_000719.7(CACNA1C):c.2566G>A (p.Gly856Ser) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044543 CV188572 NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 10044546 CV188576 NM_000719.7(CACNA1C):c.2684G>A (p.Arg895His) variant HP:0000729 Autistic behavior IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044557 CV188602 NM_000719.7(CACNA1C):c.4773G>T (p.Lys1591Asn) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044561 CV188526 NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044567 CV188613 NM_000719.7(CACNA1C):c.5198C>T (p.Ala1733Val) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044584 CV188607 NM_000719.7(CACNA1C):c.5033A>G (p.Glu1678Gly) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044585 CV188520 NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044588 CV188480 NM_000724.3(CACNB2):c.1041+1_1041+4dupGTAA variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10044588 CV188480 NM_000724.3(CACNB2):c.1041+1_1041+4dupGTAA variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10044589 CV188488 NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25650408|PMID:25741868|PMID:28492532 10044597 CV188486 NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10044612 CV188306 NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25163546|PMID:25741868|PMID:28404607|PMID:28492532|PMID:30847666 10044622 CV188327 NM_015141.4(GPD1L):c.659G>A (p.Arg220His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10044627 CV188633 NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) variant HP:0001645 Sudden cardiac death IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26467025|PMID:28492532 10044636 CV188642 NM_005477.3(HCN4):c.520C>T (p.Pro174Ser) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:28803248|PMID:29255176 10044646 CV188515 NM_005472.4(KCNE3):c.280delG (p.Val94Cysfs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10044658 CV188658 NM_000891.3(KCNJ2):c.896A>T (p.Glu299Val) variant HP:0001274 Agenesis of corpus callosum IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis PMID:23440193|PMID:26197979 10044664 CV188662 NM_000891.3(KCNJ2):c.973C>T (p.Arg325Cys) variant HP:0001663 Ventricular fibrillation IAGP H 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 10044667 CV188509 NM_000890.5(KCNJ5):c.10G>A (p.Asp4Asn) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044668 CV188510 NM_000890.5(KCNJ5):c.133G>A (p.Glu45Lys) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044672 CV188534 NM_004982.4(KCNJ8):c.263C>G (p.Ala88Gly) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:25998140|PMID:28492532|PMID:28750076 10044673 CV188426 NM_004387.4(NKX2-5):c.335-162G>A variant HP:0001636 Tetralogy of Fallot IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:25741868|PMID:28492532 10044679 CV188428 NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) variant HP:0030680 Abnormal cardiovascular system morphology IAGP H 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 10044680 CV188668 NM_016492.5(RANGRF):c.52C>T (p.Leu18Phe) variant HP:0011675 Arrhythmia IAGP H 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 HP:0011675 Arrhythmia IAGP H 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 HP:0011675 Arrhythmia IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 10044707 CV188506 NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile) variant HP:0001522 Death in infancy IAGP H RGD:8554872 20210323 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 10044707 CV188506 NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23257389|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27435932|PMID:27711072|PMID:28492532|PMID:30662450 10044714 CV188744 NM_003098.3(SNTA1):c.128G>A (p.Ser43Asn) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:30847666 10044715 CV188742 NM_003098.3(SNTA1):c.250C>T (p.Gln84Ter) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532|PMID:28837624|PMID:32893267 10044721 CV188723 NM_003098.3(SNTA1):c.992G>A (p.Arg331His) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23631430|PMID:28492532 10044723 CV188717 NM_003098.3(SNTA1):c.1244C>T (p.Thr415Met) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044728 CV188736 NM_003098.3(SNTA1):c.388T>C (p.Phe130Leu) variant HP:0011704 Sick sinus syndrome IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome PMID:25741868|PMID:28492532 10044729 CV188734 NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044733 CV188743 NM_003098.3(SNTA1):c.160G>C (p.Gly54Arg) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044781 CV188023 NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) variant HP:0001873 Thrombocytopenia IAGP H 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 HP:0004942 Aortic aneurysm IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Aortic dilatation PMID:18414213|PMID:21836662|PMID:25741868|PMID:26467025|PMID:28492532 10044805 CV188058 NM_002485.5(NBN):c.842T>G (p.Leu281Ter) variant HP:0001915 Aplastic anemia IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:16415040|PMID:25677497|PMID:25741868|PMID:28492532|PMID:29922827|PMID:9590180 10044806 CV188057 NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) variant HP:0001915 Aplastic anemia IAGP H RGD:8554872 20210608 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 HP:0006721 Acute lymphoblastic leukemia IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Acute lymphatic leukemia PMID:16415040|PMID:25677497|PMID:25741868|PMID:28492532|PMID:9590180 10044816 CV188070 NM_001987.5(ETV6):c.1046T>C (p.Leu349Pro) variant HP:0001873 Thrombocytopenia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:26102509 10044816 CV188070 NM_001987.5(ETV6):c.1046T>C (p.Leu349Pro) variant HP:0006721 Acute lymphoblastic leukemia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Acute lymphoblastic leukemia PMID:26102509 10044818 CV188107 NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp) variant HP:6000215 Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity IAGP H RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: 3-hydroxyisobutyryl-CoA hydrolase deficiency PMID:26026795|PMID:28492532 10044820 CV188131 NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter) variant HP:0005152 Histiocytoid cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Myocardial or conduction system hamartoma PMID:25741868|PMID:25772934 10044824 CV188147 NM_153816.6(SNX14):c.1132C>T (p.Arg378Ter) variant HP:0007263 Spinocerebellar atrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Spinocerebellar atrophy PMID:25741868|PMID:25848753 10044830 CV188262 NM_016218.2(POLK):c.2129C>T (p.Ser710Leu) variant HP:0012125 Prostate cancer IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Prostate cancer 10044831 CV188263 NM_016218.2(POLK):c.2287T>A (p.Tyr763Asn) variant HP:0012125 Prostate cancer IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Prostate cancer 10044832 CV188258 NM_016218.2(POLK):c.1679A>T (p.Glu560Val) variant HP:0012125 Prostate cancer IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Prostate cancer 10044833 CV188261 NM_016218.2(POLK):c.1837T>A (p.Ser613Thr) variant HP:0012125 Prostate cancer IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Prostate cancer 10044834 CV188282 NM_001079514.3(UBN1):c.2356T>A (p.Leu786Met) variant HP:0001790 Nonimmune hydrops fetalis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 10044835 CV188272 NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) variant HP:0001790 Nonimmune hydrops fetalis IAGP H 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 HP:0001639 Hypertrophic cardiomyopathy IAGP H 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 HP:0001790 Nonimmune hydrops fetalis IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949|PMID:28492532|PMID:31130284 10044838 CV188444 NM_005751.5(AKAP9):c.4814C>T (p.Thr1605Met) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044840 CV188460 NM_005751.5(AKAP9):c.10319T>C (p.Met3440Thr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044843 CV188431 NM_005751.5(AKAP9):c.235C>T (p.Pro79Ser) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044849 CV188358 NM_001148.6(ANK2):c.2443G>A (p.Val815Ile) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044851 CV188368 NM_001148.6(ANK2):c.2837G>A (p.Arg946His) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044852 CV188398 NM_001148.4(ANK2):c.10889-17T>A variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10044853 CV188399 NM_001148.6(ANK2):c.10889-8T>A variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044854 CV188335 NM_001148.6(ANK2):c.961C>T (p.Arg321Trp) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044863 CV188375 NM_001148.6(ANK2):c.3074G>C (p.Gly1025Ala) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25351510|PMID:25741868|PMID:28492532 10044864 CV188377 NM_001148.6(ANK2):c.3085C>T (p.Arg1029Cys) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044869 CV188391 NM_001148.6(ANK2):c.4835C>T (p.Thr1612Ile) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044876 CV188330 NM_001148.6(ANK2):c.80A>C (p.Lys27Thr) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044879 CV188365 NM_001148.6(ANK2):c.2813A>T (p.Lys938Met) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044884 CV188521 NM_000719.7(CACNA1C):c.50-18T>C variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044886 CV188546 NM_000719.7(CACNA1C):c.1366A>C (p.Met456Leu) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044890 CV188556 NM_000719.7(CACNA1C):c.1703C>T (p.Thr568Met) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044892 CV188559 NM_000719.7(CACNA1C):c.1864G>A (p.Val622Ile) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044893 CV188570 NM_000719.7(CACNA1C):c.2517C>A (p.Asn839Lys) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044897 CV188596 NM_000719.7(CACNA1C):c.4040G>A (p.Arg1347Gln) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044904 CV188547 NM_000719.7(CACNA1C):c.1420G>T (p.Val474Phe) variant HP:0001657 Prolonged QT interval IAGP H 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 HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044907 CV188580 NM_000719.7(CACNA1C):c.3295G>A (p.Asp1099Asn) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044908 CV188530 NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23631430|PMID:25741868|PMID:27231019|PMID:28341588|PMID:28492532|PMID:31293105|PMID:31737537 10044909 CV188519 NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26637798|PMID:28492532 10044924 CV188511 NM_000890.5(KCNJ5):c.314G>C (p.Gly105Ala) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044925 CV188422 NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro) variant HP:0001636 Tetralogy of Fallot IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:25741868|PMID:28492532 10044926 CV188671 NM_016492.5(RANGRF):c.249G>C (p.Glu83Asp) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:21447824|PMID:22010171|PMID:26903377|PMID:28492532|PMID:30282806 10044948 CV188718 NM_003098.3(SNTA1):c.1238-11C>T variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044949 CV188739 NM_003098.3(SNTA1):c.287G>C (p.Gly96Ala) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044950 CV188733 NM_003098.3(SNTA1):c.526T>C (p.Phe176Leu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044952 CV188728 NM_003098.3(SNTA1):c.759T>A (p.Asp253Glu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:30369311 10044953 CV188727 NM_003098.3(SNTA1):c.773G>A (p.Arg258Lys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044954 CV188725 NM_003098.2(SNTA1):c.944T>G (p.Leu315Arg) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10044955 CV188724 NM_003098.3(SNTA1):c.991C>T (p.Arg331Cys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044958 CV188714 NM_003098.3(SNTA1):c.1300T>C (p.Trp434Arg) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044960 CV188710 NM_003098.3(SNTA1):c.1504G>A (p.Gly502Arg) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044961 CV188735 NM_003098.3(SNTA1):c.403A>C (p.Ile135Leu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044964 CV188783 NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24940029|PMID:25741868|PMID:28492532|PMID:29184169|PMID:30004997 10044967 CV188804 NM_001035.3(RYR2):c.9407G>A (p.Ser3136Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10044967 CV188804 NM_001035.3(RYR2):c.9407G>A (p.Ser3136Asn) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10044972 CV188823 NM_000448.3(RAG1):c.1438A>G (p.Ser480Gly) variant HP:0004430 Severe combined immunodeficiency IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency PMID:24331380|PMID:25741868|PMID:28492532|PMID:31130284|PMID:36279417 10044975 CV188835 NM_000719.7(CACNA1C):c.169G>A (p.Asp57Asn) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044979 CV188856 NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:19268277|PMID:22334370|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26261414|PMID:26306921|PMID:26355662|PMID:28492532|PMID:31908400 10044994 CV188923 NM_001298.3(CNGA3):c.955T>C (p.Cys319Arg) variant HP:0007803 Monochromacy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorblindness, total PMID:25052312|PMID:25741868|PMID:26355662|PMID:28492532 10045008 CV188981 NM_001278293.3(ARL6):c.362G>A (p.Arg121His) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:26355662|PMID:27124789|PMID:28005406|PMID:28130426|PMID:28492532|PMID:32906206|PMID:33090715|PMID:35457050 10045012 CV188993 NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26355662|PMID:28492532|PMID:29620724|PMID:32055034 10045013 CV188996 NM_001148.6(ANK2):c.7255G>A (p.Glu2419Lys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:31130284 10045017 CV189010 NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25342620|PMID:25741868|PMID:26047050|PMID:26355662|PMID:28492532|PMID:29625443|PMID:29843741|PMID:31589614|PMID:31630094|PMID:31964843|PMID:36819107 10045032 CV189167 NC_012920.1(MT-ATP6):m.8969G>A variant HP:0001112 Leber optic atrophy IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leber optic atrophy PMID:25037980|PMID:27812026|PMID:29350304 10045035 CV188766 NM_145200.5(CABP4):c.646C>T (p.Arg216Ter) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:19074807|PMID:23714322|PMID:25307992|PMID:25741868|PMID:28492532|PMID:29525873|PMID:29706639|PMID:30718709 10045035 CV188766 NM_145200.5(CABP4):c.646C>T (p.Arg216Ter) variant HP:0000548 Cone/cone-rod dystrophy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone/cone-rod dystrophy PMID:19074807|PMID:23714322|PMID:25307992|PMID:25741868|PMID:28492532|PMID:29525873|PMID:29706639|PMID:30718709 10045035 CV188766 NM_145200.5(CABP4):c.646C>T (p.Arg216Ter) variant HP:0011516 Achromatopsia IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:19074807|PMID:23714322|PMID:25307992|PMID:25741868|PMID:28492532|PMID:29525873|PMID:29706639|PMID:30718709 10045043 CV188781 NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10045044 CV188782 NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:27124789|PMID:28492532|PMID:30120289|PMID:31589614|PMID:31964843 10045044 CV188782 NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:27124789|PMID:28492532|PMID:30120289|PMID:31589614|PMID:31964843 10045054 CV188793 NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) variant HP:0001644 Dilated cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE PMID:25741868|PMID:26733286|PMID:28492532|PMID:29620724 10045065 CV188807 NM_032578.4(MYPN):c.935C>T (p.Ser312Phe) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868 10045109 CV188865 NM_014249.4(NR2E3):c.119-2A>C variant HP:0000505 Visual impairment IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:21686439|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:31130284|PMID:31306293|PMID:31456290|PMID:31589614|PMID:31725702|PMID:31816670|PMID:31877679|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32679203|PMID:33138239|PMID:33749171|PMID:34426522|PMID:34906470|PMID:35113758|PMID:36460718|PMID:36819107|PMID:36909829 10045109 CV188865 NM_014249.4(NR2E3):c.119-2A>C variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:21686439|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:31130284|PMID:31306293|PMID:31456290|PMID:31589614|PMID:31725702|PMID:31816670|PMID:31877679|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32679203|PMID:33138239|PMID:33749171|PMID:34426522|PMID:34906470|PMID:35113758|PMID:36460718|PMID:36819107|PMID:36909829 10045109 CV188865 NM_014249.4(NR2E3):c.119-2A>C variant HP:0000548 Cone/cone-rod dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cone/cone-rod dystrophy PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:21686439|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:31130284|PMID:31306293|PMID:31456290|PMID:31589614|PMID:31725702|PMID:31816670|PMID:31877679|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32679203|PMID:33138239|PMID:33749171|PMID:34426522|PMID:34906470|PMID:35113758|PMID:36460718|PMID:36819107|PMID:36909829 10045109 CV188865 NM_014249.4(NR2E3):c.119-2A>C variant HP:0000551 Color vision defect IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Color vision defect PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:21686439|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:31130284|PMID:31306293|PMID:31456290|PMID:31589614|PMID:31725702|PMID:31816670|PMID:31877679|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32679203|PMID:33138239|PMID:33749171|PMID:34426522|PMID:34906470|PMID:35113758|PMID:36460718|PMID:36819107|PMID:36909829 10045109 CV188865 NM_014249.4(NR2E3):c.119-2A>C variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:21686439|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:31130284|PMID:31306293|PMID:31456290|PMID:31589614|PMID:31725702|PMID:31816670|PMID:31877679|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32679203|PMID:33138239|PMID:33749171|PMID:34426522|PMID:34906470|PMID:35113758|PMID:36460718|PMID:36819107|PMID:36909829 10045109 CV188865 NM_014249.4(NR2E3):c.119-2A>C variant HP:0000666 Horizontal nystagmus IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Horizontal nystagmus PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:21686439|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:31130284|PMID:31306293|PMID:31456290|PMID:31589614|PMID:31725702|PMID:31816670|PMID:31877679|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32679203|PMID:33138239|PMID:33749171|PMID:34426522|PMID:34906470|PMID:35113758|PMID:36460718|PMID:36819107|PMID:36909829 10045109 CV188865 NM_014249.4(NR2E3):c.119-2A>C variant HP:0001107 Ocular albinism IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Ocular albinism PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:21686439|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:31130284|PMID:31306293|PMID:31456290|PMID:31589614|PMID:31725702|PMID:31816670|PMID:31877679|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32679203|PMID:33138239|PMID:33749171|PMID:34426522|PMID:34906470|PMID:35113758|PMID:36460718|PMID:36819107|PMID:36909829 10045110 CV188866 NM_014249.4(NR2E3):c.373C>T (p.Arg125Ter) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15459973|PMID:23039133|PMID:25741868|PMID:26355662|PMID:27522502|PMID:28492532 10045111 CV188867 NM_014249.4(NR2E3):c.646G>A (p.Gly216Ser) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:26355662|PMID:28492532|PMID:30718709|PMID:32679203|PMID:32901917 10045111 CV188867 NM_014249.4(NR2E3):c.646G>A (p.Gly216Ser) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26355662|PMID:28492532|PMID:30718709|PMID:32679203|PMID:32901917 10045131 CV188894 NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23396983|PMID:25351510|PMID:25741868|PMID:26112015|PMID:28492532 10045145 CV188910 NM_000554.6(CRX):c.274G>A (p.Ala92Thr) variant HP:0000548 Cone/cone-rod dystrophy IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY PMID:25741868|PMID:26355662|PMID:28492532 10045153 CV188921 NM_014014.5(SNRNP200):c.2593G>A (p.Gly865Ser) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26355662 10045156 CV188925 NM_001298.3(CNGA3):c.1573G>A (p.Gly525Ser) variant HP:0007803 Monochromacy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Colorblindness, total PMID:25741868 10045164 CV188938 NM_001267550.2(TTN):c.67534G>T (p.Asp22512Tyr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10045199 CV188982 NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22277662|PMID:25741868|PMID:28492532 10045200 CV188983 NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:26355662|PMID:30054919 10045206 CV188992 NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:26355662|PMID:28492532|PMID:31129250|PMID:31964843|PMID:34426522 10045206 CV188992 NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26355662|PMID:28492532|PMID:31129250|PMID:31964843|PMID:34426522 10045210 CV188998 NM_001148.6(ANK2):c.8324A>G (p.His2775Arg) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:32508047 10045219 CV189011 NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26061163|PMID:26355662|PMID:28492532 10045232 CV189026 NM_000238.4(KCNH2):c.1738G>C (p.Asp580His) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10045237 CV189033 NM_000127.3(EXT1):c.2132G>A (p.Trp711Ter) variant HP:0002762 Multiple exostoses IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Multiple exostoses PMID:25741868|PMID:28492532|PMID:29620724 10045242 CV189041 NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) variant HP:0002497 Spastic ataxia IAGP H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:18414213|PMID:24781210|PMID:25356970|PMID:25741868|PMID:26795593|PMID:26865513|PMID:26993267|PMID:28492532|PMID:29264391|PMID:32643187 10045242 CV189041 NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) variant HP:0011097 Epileptic spasm IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: West syndrome PMID:18414213|PMID:24781210|PMID:25356970|PMID:25741868|PMID:26795593|PMID:26865513|PMID:26993267|PMID:28492532|PMID:29264391|PMID:32643187 10045247 CV189046 NM_004006.3(DMD):c.3922-3C>T variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10045249 CV189049 NM_006915.3(RP2):c.2T>C (p.Met1Thr) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10942419|PMID:17724181|PMID:25741868|PMID:26355662|PMID:28209709|PMID:28492532|PMID:29847639|PMID:9697692 10045259 CV189061 NM_001278116.2(L1CAM):c.1124-6_1124-3dup variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:28492532 10045267 CV189069 NM_001008212.2(OPTN):c.918_922del (p.Thr307fs) variant HP:0012108 Open angle glaucoma IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:20428114|PMID:25741868|PMID:28492532|PMID:35896380 10045290 CV189092 NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) variant HP:0000478 Abnormality of the eye IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25326637|PMID:25741868|PMID:26355662|PMID:28492532|PMID:32188692|PMID:32552793|PMID:34426522 10045290 CV189092 NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25326637|PMID:25741868|PMID:26355662|PMID:28492532|PMID:32188692|PMID:32552793|PMID:34426522 10045301 CV189104 NM_001039348.3(EFEMP1):c.*6del variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868 10045321 CV189125 NM_006005.3(WFS1):c.862G>A (p.Val288Met) variant HP:0005978 Type II diabetes mellitus IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type II diabetes mellitus PMID:25741868|PMID:28492532 10045331 CV189135 NM_001142800.2(EYS):c.179del (p.Leu60fs) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26355662 10045338 CV189144 NM_006269.2(RP1):c.1719_1723del (p.Ser574fs) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11527933|PMID:19933189|PMID:25692139|PMID:25741868|PMID:26355662|PMID:28492532|PMID:29425069|PMID:30027431|PMID:33681214|PMID:36909829 10045338 CV189144 NM_006269.2(RP1):c.1719_1723del (p.Ser574fs) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11527933|PMID:19933189|PMID:25692139|PMID:25741868|PMID:26355662|PMID:28492532|PMID:29425069|PMID:30027431|PMID:33681214|PMID:36909829 10045341 CV189147 NM_017570.5(OPLAH):c.2303G>A (p.Arg768His) variant HP:0040142 Reduced circulating 5-oxoprolinase activity IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: 5-Oxoprolinase deficiency PMID:25741868 10045348 CV189154 NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly) variant HP:0002197 Generalized-onset seizure IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Generalized seizures PMID:25741868|PMID:26475232|PMID:28492532 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene HP:0008209 Premature ovarian insufficiency IAGP RGD:11093723 H RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:26467025|PMID:28492532|PMID:30924587 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene HP:0100615 Ovarian neoplasm IAGP RGD:243054627 H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene HP:0100615 Ovarian neoplasm IAGP RGD:26885900 H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene HP:0100615 Ovarian neoplasm IAGP RGD:8696542 H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:23555315|PMID:24894818|PMID:25151137|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:27783279|PMID:28492532|PMID:29338689|PMID:29891727|PMID:30306255|PMID:31742824|PMID:32566746|PMID:33471991 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene HP:0100615 Ovarian neoplasm IAGP RGD:8698287 H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene HP:0100615 Ovarian neoplasm IAGP RGD:8698512 H RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:22216297|PMID:24894818|PMID:25741868|PMID:26787654|PMID:28102005|PMID:28492532|PMID:29891727|PMID:30982232|PMID:33471991|PMID:34716202|PMID:35186721 10046065 CV189353 NM_002234.4(KCNA5):c.919C>T (p.Pro307Ser) variant HP:0002092 Pulmonary arterial hypertension IAGP H RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:23861362|PMID:25741868|PMID:28492532 10046066 CV189264 NM_005751.5(AKAP9):c.139C>T (p.His47Tyr) variant HP:0001635 Congestive heart failure IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Heart failure PMID:23861362|PMID:25741868|PMID:28492532 10046066 CV189264 NM_005751.5(AKAP9):c.139C>T (p.His47Tyr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046066 CV189264 NM_005751.5(AKAP9):c.139C>T (p.His47Tyr) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046066 CV189264 NM_005751.5(AKAP9):c.139C>T (p.His47Tyr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046066 CV189264 NM_005751.5(AKAP9):c.139C>T (p.His47Tyr) variant HP:0005110 Atrial fibrillation IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:23861362|PMID:25741868|PMID:28492532 10046067 CV189267 NM_005751.5(AKAP9):c.1301G>A (p.Arg434Gln) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25649125|PMID:25741868|PMID:28492532 10046068 CV189268 NM_005751.5(AKAP9):c.1372G>C (p.Ala458Pro) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046069 CV189273 NM_005751.5(AKAP9):c.3827G>A (p.Arg1276Gln) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046070 CV189277 NM_005751.5(AKAP9):c.4199T>C (p.Met1400Thr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046071 CV189279 NM_005751.5(AKAP9):c.4519G>C (p.Asp1507His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046071 CV189279 NM_005751.5(AKAP9):c.4519G>C (p.Asp1507His) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046072 CV189293 NM_005751.5(AKAP9):c.9092A>G (p.Gln3031Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046072 CV189293 NM_005751.5(AKAP9):c.9092A>G (p.Gln3031Arg) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046072 CV189293 NM_005751.5(AKAP9):c.9092A>G (p.Gln3031Arg) variant HP:0001663 Ventricular fibrillation IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:23861362|PMID:25741868|PMID:28492532 10046073 CV189299 NM_005751.5(AKAP9):c.10331A>G (p.Gln3444Arg) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046074 CV189303 NM_005751.5(AKAP9):c.10858A>G (p.Ile3620Val) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046075 CV189238 NM_001148.6(ANK2):c.6634G>A (p.Gly2212Ser) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046076 CV189240 NM_001148.6(ANK2):c.7007C>T (p.Ala2336Val) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046077 CV189247 NM_001148.6(ANK2):c.8503C>T (p.Pro2835Ser) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046078 CV189249 NM_001148.6(ANK2):c.9061G>A (p.Ala3021Thr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046079 CV189250 NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046080 CV189251 NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046083 CV189319 NM_201596.3(CACNB2):c.1816C>G (p.Arg606Gly) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046083 CV189319 NM_201596.3(CACNB2):c.1816C>G (p.Arg606Gly) variant HP:0004755 Supraventricular tachycardia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: SVT PMID:23861362|PMID:25741868|PMID:28492532 10046083 CV189319 NM_201596.3(CACNB2):c.1816C>G (p.Arg606Gly) variant HP:0004756 Ventricular tachycardia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532 10046089 CV189193 NM_001035.3(RYR2):c.5653G>T (p.Gly1885Trp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868 10046089 CV189193 NM_001035.3(RYR2):c.5653G>T (p.Gly1885Trp) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:23861362|PMID:25741868 10046090 CV189377 NM_003098.3(SNTA1):c.317G>A (p.Arg106Gln) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046094 CV190006 NM_145046.5(CALR3):c.850G>A (p.Asp284Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046094 CV190006 NM_145046.5(CALR3):c.850G>A (p.Asp284Asn) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046108 CV190024 NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) variant HP:0003002 Breast carcinoma IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer PMID:25741868|PMID:26580448|PMID:28466842|PMID:28492532 10046111 CV190029 NM_000455.5(STK11):c.842del (p.Pro281fs) variant HP:0002861 Melanoma IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Melanoma PMID:10353780|PMID:15188174|PMID:16287113|PMID:17319781|PMID:20435009|PMID:25741868|PMID:28492532|PMID:9760200 10046115 CV189265 NM_005751.5(AKAP9):c.389C>G (p.Pro130Arg) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046116 CV189269 NM_005751.5(AKAP9):c.1685A>G (p.His562Arg) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046117 CV189274 NM_005751.5(AKAP9):c.3950T>C (p.Ile1317Thr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046118 CV189275 NM_005751.5(AKAP9):c.4156G>T (p.Val1386Phe) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046119 CV189280 NM_005751.5(AKAP9):c.5234T>C (p.Val1745Ala) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046120 CV189282 NM_005751.5(AKAP9):c.5543C>G (p.Ser1848Cys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046121 CV189283 NM_005751.5(AKAP9):c.5636T>C (p.Met1879Thr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046123 CV189289 NM_005751.5(AKAP9):c.7773A>C (p.Gln2591His) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046124 CV189292 NM_005751.5(AKAP9):c.8894A>G (p.Tyr2965Cys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046126 CV189296 NM_005751.5(AKAP9):c.9830T>C (p.Ile3277Thr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532|PMID:30975432 10046127 CV189301 NM_005751.5(AKAP9):c.10523G>A (p.Cys3508Tyr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046128 CV189309 NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046128 CV189309 NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046129 CV189222 NM_001148.6(ANK2):c.2110C>G (p.Gln704Glu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532|PMID:28750076 10046130 CV189226 NM_001148.6(ANK2):c.4220A>G (p.Lys1407Arg) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046132 CV189230 NM_001148.6(ANK2):c.5134C>A (p.Gln1712Lys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046137 CV189241 NM_001148.6(ANK2):c.7436A>G (p.Lys2479Arg) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532|PMID:33762593 10046138 CV189242 NM_001148.6(ANK2):c.7532G>A (p.Arg2511Gln) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046140 CV189245 NM_001148.6(ANK2):c.8381A>G (p.Gln2794Arg) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046141 CV189246 NM_001148.6(ANK2):c.8447G>A (p.Gly2816Asp) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046142 CV189252 NM_001148.6(ANK2):c.9916G>A (p.Val3306Ile) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046143 CV189254 NM_001148.6(ANK2):c.11848G>A (p.Glu3950Lys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046144 CV189331 NM_000719.7(CACNA1C):c.1031C>T (p.Thr344Ile) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046148 CV189337 NM_000719.7(CACNA1C):c.5329C>T (p.Arg1777Cys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:27707468|PMID:28492532 10046149 CV189339 NM_000719.7(CACNA1C):c.5408G>C (p.Arg1803Pro) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046151 CV189343 NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25184293|PMID:25741868|PMID:26230511|PMID:26386135|PMID:27502440|PMID:28492532|PMID:29046645|PMID:30345660 10046151 CV189343 NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25184293|PMID:25741868|PMID:26230511|PMID:26386135|PMID:27502440|PMID:28492532|PMID:29046645|PMID:30345660 10046152 CV189344 NM_000719.7(CACNA1C):c.6344G>C (p.Gly2115Ala) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046161 CV189184 NM_001232.4(CASQ2):c.1052A>G (p.Asp351Gly) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28074886|PMID:28404607|PMID:28492532|PMID:29032884|PMID:33093545 10046164 CV189220 NM_033337.3(CAV3):c.294C>A (p.Cys98Ter) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:18509671|PMID:19238754|PMID:21182936|PMID:23861362|PMID:25741868|PMID:28232187|PMID:28492532|PMID:30153853|PMID:9537420 10046173 CV189364 NM_005477.3(HCN4):c.1840G>A (p.Glu614Lys) variant HP:0004756 Ventricular tachycardia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532|PMID:30986657 10046182 CV189380 NM_000219.6(KCNE1):c.94C>T (p.Arg32Cys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23382499|PMID:23861362|PMID:24314077|PMID:25741868|PMID:28492532|PMID:28589536|PMID:38816749 10046185 CV189257 NM_000238.4(KCNH2):c.2674C>T (p.Arg892Cys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25447171|PMID:25741868|PMID:28492532|PMID:28606196|PMID:30615648 10046185 CV189257 NM_000238.4(KCNH2):c.2674C>T (p.Arg892Cys) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23861362|PMID:25447171|PMID:25741868|PMID:28492532|PMID:28606196|PMID:30615648 10046186 CV189259 NM_000238.4(KCNH2):c.2398+156G>A variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:23861362|PMID:25741868 10046187 CV189262 NM_000238.4(KCNH2):c.1330G>A (p.Glu444Lys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:22402074|PMID:23861362|PMID:25741868|PMID:28492532 10046187 CV189262 NM_000238.4(KCNH2):c.1330G>A (p.Glu444Lys) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:22402074|PMID:23861362|PMID:25741868|PMID:28492532 10046188 CV189263 NM_000238.4(KCNH2):c.383A>G (p.Asn128Ser) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532|PMID:31696929 10046188 CV189263 NM_000238.4(KCNH2):c.383A>G (p.Asn128Ser) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23861362|PMID:25741868|PMID:28492532|PMID:31696929 10046191 CV189328 NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532|PMID:29532034|PMID:30571187 10046191 CV189328 NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23861362|PMID:25741868|PMID:28492532|PMID:29532034|PMID:30571187 10046192 CV189329 NM_000218.3(KCNQ1):c.721G>A (p.Val241Ile) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:26669661|PMID:28492532|PMID:30571187 10046194 CV189188 NM_001035.3(RYR2):c.1509C>A (p.Asp503Glu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:30670673|PMID:32660257 10046194 CV189188 NM_001035.3(RYR2):c.1509C>A (p.Asp503Glu) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532|PMID:30670673|PMID:32660257 10046195 CV189189 NM_001035.3(RYR2):c.2444C>T (p.Pro815Leu) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532 10046196 CV189192 NM_001035.3(RYR2):c.5652G>T (p.Lys1884Asn) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:23861362|PMID:25741868 10046197 CV189195 NM_001035.3(RYR2):c.5923A>G (p.Met1975Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31539150|PMID:32508047|PMID:33500567 10046198 CV189197 NM_001035.3(RYR2):c.7807G>A (p.Ala2603Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046200 CV189201 NM_001035.3(RYR2):c.10699C>T (p.Arg3567Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046202 CV189204 NM_001035.3(RYR2):c.13267A>C (p.Lys4423Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:26272908|PMID:28404607|PMID:28492532 10046202 CV189204 NM_001035.3(RYR2):c.13267A>C (p.Lys4423Gln) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:23861362|PMID:25741868|PMID:26272908|PMID:28404607|PMID:28492532 10046203 CV189205 NM_001035.3(RYR2):c.13600C>T (p.Pro4534Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28404607|PMID:28492532|PMID:30847666 10046203 CV189205 NM_001035.3(RYR2):c.13600C>T (p.Pro4534Ser) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:23861362|PMID:25741868|PMID:28404607|PMID:28492532|PMID:30847666 10046204 CV189206 NM_001035.3(RYR2):c.13712C>T (p.Thr4571Met) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046204 CV189206 NM_001035.3(RYR2):c.13712C>T (p.Thr4571Met) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532 10046209 CV189211 NM_000335.5(SCN5A):c.5213G>A (p.Arg1738Gln) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:15996170|PMID:23861362|PMID:25741868|PMID:26746457|PMID:28492532|PMID:32893267 10046210 CV189216 NM_000335.5(SCN5A):c.1873G>C (p.Glu625Gln) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:23861362|PMID:25741868|PMID:28492532 10046211 CV189218 NM_000335.5(SCN5A):c.818T>C (p.Met273Thr) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23861362|PMID:25741868 10046212 CV189219 NM_000335.5(SCN5A):c.73G>A (p.Glu25Lys) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23861362|PMID:25741868|PMID:28492532|PMID:28837624 10046213 CV189370 NM_003098.3(SNTA1):c.1330G>A (p.Val444Met) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046215 CV189374 NM_003098.3(SNTA1):c.544G>A (p.Gly182Arg) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046217 CV189376 NM_003098.3(SNTA1):c.375G>C (p.Gln125His) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046218 CV189266 NM_005751.5(AKAP9):c.971T>C (p.Ile324Thr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046219 CV189271 NM_005751.5(AKAP9):c.2230G>A (p.Glu744Lys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046220 CV189272 NM_005751.5(AKAP9):c.2581T>C (p.Tyr861His) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046221 CV189276 NM_005751.5(AKAP9):c.4190A>G (p.Gln1397Arg) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:24123366|PMID:28492532 10046222 CV189278 NM_005751.5(AKAP9):c.4342A>G (p.Ile1448Val) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:26671970|PMID:28492532 10046223 CV189285 NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046224 CV189286 NM_005751.5(AKAP9):c.6176A>G (p.Glu2059Gly) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25467552|PMID:25741868|PMID:28492532 10046225 CV189287 NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046225 CV189287 NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046226 CV189288 NM_005751.5(AKAP9):c.7488T>G (p.Asn2496Lys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532|PMID:30847666 10046227 CV189291 NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:26159999|PMID:28492532 10046228 CV189295 NM_005751.5(AKAP9):c.9763A>G (p.Arg3255Gly) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046228 CV189295 NM_005751.5(AKAP9):c.9763A>G (p.Arg3255Gly) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046229 CV189297 NM_005751.5(AKAP9):c.9929G>A (p.Arg3310Gln) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046230 CV189298 NM_005751.5(AKAP9):c.10249C>T (p.Arg3417Cys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532|PMID:31847883 10046231 CV189300 NM_005751.5(AKAP9):c.10459G>A (p.Glu3487Lys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:26159999|PMID:28492532|PMID:30847666 10046232 CV189302 NM_005751.5(AKAP9):c.10672A>G (p.Ile3558Val) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:26159999|PMID:28492532 10046233 CV189304 NM_005751.5(AKAP9):c.11135G>A (p.Arg3712Gln) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:27707468|PMID:28492532 10046234 CV189305 NM_005751.5(AKAP9):c.11229G>A (p.Met3743Ile) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:26743238|PMID:28492532|PMID:30276209|PMID:30471092|PMID:30847666|PMID:34088380 10046235 CV189306 NM_005751.5(AKAP9):c.11230G>T (p.Gly3744Trp) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046236 CV189307 NM_005751.5(AKAP9):c.11273G>A (p.Arg3758His) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046236 CV189307 NM_005751.5(AKAP9):c.11273G>A (p.Arg3758His) variant HP:0011034 Amyloidosis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Amyloid disease PMID:23861362|PMID:25741868|PMID:28492532 10046237 CV189308 NM_005751.5(AKAP9):c.11362G>C (p.Val3788Leu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046238 CV189221 NM_001148.6(ANK2):c.1177G>A (p.Ala393Thr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23631430|PMID:23861362|PMID:28492532 10046239 CV189228 NM_001148.6(ANK2):c.4555G>T (p.Ala1519Ser) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046240 CV189229 NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23396983|PMID:23861362|PMID:25741868|PMID:26159999|PMID:28492532 10046241 CV189231 NM_001148.6(ANK2):c.5371G>A (p.Val1791Ile) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046242 CV189235 NM_001148.6(ANK2):c.6176C>T (p.Thr2059Met) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17242276|PMID:23861362|PMID:25351510|PMID:25741868|PMID:28492532 10046243 CV189236 NM_001148.6(ANK2):c.6228G>T (p.Lys2076Asn) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28074886|PMID:28341588|PMID:28492532|PMID:31862442 10046244 CV189239 NM_001148.6(ANK2):c.6854T>C (p.Ile2285Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046244 CV189239 NM_001148.6(ANK2):c.6854T>C (p.Ile2285Thr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046245 CV189244 NM_001148.6(ANK2):c.8354C>T (p.Ser2785Leu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046246 CV189248 NM_001148.6(ANK2):c.9046G>A (p.Glu3016Lys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25351510|PMID:25741868|PMID:26159999|PMID:28492532|PMID:28750076 10046246 CV189248 NM_001148.6(ANK2):c.9046G>A (p.Glu3016Lys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25351510|PMID:25741868|PMID:26159999|PMID:28492532|PMID:28750076 10046247 CV189258 NM_000238.4(KCNH2):c.2398+178C>T variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:23861362|PMID:25741868 10046248 CV189260 NM_000238.4(KCNH2):c.2398+16C>T variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046248 CV189260 NM_000238.4(KCNH2):c.2398+16C>T variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23861362|PMID:25741868|PMID:28492532 10046249 CV189190 NM_001035.3(RYR2):c.4445G>A (p.Arg1482His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28087566|PMID:28404607|PMID:28492532 10046250 CV189200 NM_001035.3(RYR2):c.10381A>G (p.Met3461Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28404607|PMID:28492532 10046251 CV189203 NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:19926015|PMID:23861362|PMID:24025405|PMID:24033266|PMID:25741868|PMID:27538377|PMID:27930701|PMID:28404607|PMID:28492532|PMID:28771489|PMID:32152366|PMID:32746448|PMID:35932045 10046252 CV189322 NM_174934.4(SCN4B):c.607G>A (p.Val203Met) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046253 CV189338 NM_000719.7(CACNA1C):c.5383G>A (p.Gly1795Arg) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046254 CV189341 NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:32145446 10046254 CV189341 NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:32145446 10046255 CV189342 NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25633834|PMID:25650408|PMID:25741868|PMID:26159999|PMID:26173111|PMID:27711072|PMID:28492532 10046257 CV189898 NM_020297.4(ABCC9):c.3594G>A (p.Met1198Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:25979592|PMID:28492532 10046265 CV189394 NM_001103.4(ACTN2):c.1312C>T (p.Arg438Trp) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:28492532 10046266 CV189395 NM_001103.4(ACTN2):c.1358C>T (p.Ala453Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046268 CV189399 NM_001103.4(ACTN2):c.1586A>G (p.Asn529Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046271 CV189402 NM_001103.4(ACTN2):c.2552G>A (p.Arg851His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:31983221 10046271 CV189402 NM_001103.4(ACTN2):c.2552G>A (p.Arg851His) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:31983221 10046288 CV189979 NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25351510|PMID:25741868|PMID:28492532|PMID:31737537 10046289 CV189980 NM_024422.6(DSC2):c.2314G>A (p.Val772Met) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:29590070 10046290 CV189981 NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:31980526 10046291 CV189982 NM_024422.6(DSC2):c.1070G>A (p.Arg357His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046292 CV189983 NM_024422.6(DSC2):c.857G>T (p.Gly286Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23396983|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:32917565|PMID:36293497|PMID:37418234 10046293 CV189984 NM_024422.6(DSC2):c.734A>C (p.Glu245Ala) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046294 CV189986 NM_001943.5(DSG2):c.430G>A (p.Glu144Lys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25209314|PMID:25741868|PMID:28492532|PMID:30391969|PMID:31737537 10046295 CV189988 NM_001943.5(DSG2):c.841G>A (p.Val281Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868 10046296 CV189989 NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046296 CV189989 NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr) variant HP:0001695 Cardiac arrest IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:23861362|PMID:25741868|PMID:28492532 10046297 CV189991 NM_001943.5(DSG2):c.1460T>C (p.Ile487Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046298 CV189993 NM_001943.5(DSG2):c.3266G>T (p.Gly1089Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046299 CV189994 NM_001943.5(DSG2):c.3293C>G (p.Ser1098Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:20031617|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046300 CV189819 NM_004415.4(DSP):c.386G>A (p.Arg129Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046301 CV189820 NM_004415.4(DSP):c.1630A>C (p.Met544Leu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046304 CV189825 NM_004415.4(DSP):c.3600T>G (p.Asn1200Lys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046307 CV189831 NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046308 CV189832 NM_004415.4(DSP):c.7864A>G (p.Ile2622Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046309 CV189834 NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:21859740|PMID:23861362|PMID:25741868|PMID:28492532|PMID:29802319 10046317 CV190002 NM_001386795.1(DTNA):c.1838C>T (p.Pro613Leu) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:30086531|PMID:31568572 10046331 CV190020 NM_020433.5(JPH2):c.1951A>G (p.Lys651Glu) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:28492532 10046349 CV189383 NM_170707.4(LMNA):c.1017G>A (p.Ala339=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046350 CV189887 NM_000256.3(MYBPC3):c.3148G>A (p.Glu1050Lys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046350 CV189887 NM_000256.3(MYBPC3):c.3148G>A (p.Glu1050Lys) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046351 CV189889 NM_000256.3(MYBPC3):c.640G>A (p.Asp214Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:28518168|PMID:28771489|PMID:30847666|PMID:33782553 10046351 CV189889 NM_000256.3(MYBPC3):c.640G>A (p.Asp214Asn) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:28518168|PMID:28771489|PMID:30847666|PMID:33782553 10046352 CV189890 NM_000256.3(MYBPC3):c.631G>A (p.Asp211Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28771489 10046352 CV189890 NM_000256.3(MYBPC3):c.631G>A (p.Asp211Asn) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28771489 10046357 CV189933 NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:24082139|PMID:25351510|PMID:25500235|PMID:25741868|PMID:26350513|PMID:26383259|PMID:26656175|PMID:28087566|PMID:28492532|PMID:29332214|PMID:29517769|PMID:30847666|PMID:30975432|PMID:36178741 10046359 CV189935 NM_002471.4(MYH6):c.3988G>A (p.Ala1330Thr) variant HP:0001635 Congestive heart failure IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: CHF PMID:23861362|PMID:25741868|PMID:28492532 10046363 CV189940 NM_002471.4(MYH6):c.2575G>T (p.Gly859Trp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31847883 10046369 CV189948 NM_000257.4(MYH7):c.5527A>G (p.Ser1843Gly) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:29853478|PMID:30297972|PMID:30847666|PMID:33495597 10046369 CV189948 NM_000257.4(MYH7):c.5527A>G (p.Ser1843Gly) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:29853478|PMID:30297972|PMID:30847666|PMID:33495597 10046372 CV189951 NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046372 CV189951 NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046372 CV189951 NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) variant HP:0009054 Scapuloperoneal myopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Scapuloperoneal myopathy PMID:23861362|PMID:25741868|PMID:28492532 10046372 CV189951 NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) variant HP:0011664 Left ventricular noncompaction cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Left ventricular non-compaction cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046373 CV189953 NM_000257.4(MYH7):c.3730A>C (p.Asn1244His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:33495596 10046373 CV189953 NM_000257.4(MYH7):c.3730A>C (p.Asn1244His) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:33495596 10046374 CV189955 NM_000257.4(MYH7):c.3055A>G (p.Thr1019Ala) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:15769782|PMID:23861362|PMID:24033266|PMID:25342278|PMID:25741868 10046375 CV189892 NM_000432.4(MYL2):c.433G>A (p.Asp145Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:28611029|PMID:35629155 10046375 CV189892 NM_000432.4(MYL2):c.433G>A (p.Asp145Asn) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:28611029|PMID:35629155 10046379 CV190017 NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046379 CV190017 NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046381 CV189781 NM_016599.5(MYOZ2):c.302C>A (p.Ser101Ter) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:31534214 10046381 CV189781 NM_016599.5(MYOZ2):c.302C>A (p.Ser101Ter) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:31534214 10046384 CV189784 NM_016599.5(MYOZ2):c.674C>T (p.Pro225Leu) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:28798025 10046388 CV189847 NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:34935411 10046398 CV189906 NM_001005242.3(PKP2):c.2499C>A (p.His833Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:20716751|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046400 CV189908 NM_001005242.3(PKP2):c.2332A>T (p.Ile778Phe) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868 10046401 CV189909 NM_001005242.3(PKP2):c.2171A>C (p.Lys724Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046402 CV189911 NM_001005242.3(PKP2):c.1379-2066C>T variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:27122407|PMID:28492532 10046403 CV189912 NM_001005242.3(PKP2):c.1238G>A (p.Arg413Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046411 CV189965 NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:24037902|PMID:25741868|PMID:26332198|PMID:26467025|PMID:28492532|PMID:30871747|PMID:31303467 10046414 CV189774 NM_024334.3(TMEM43):c.121A>G (p.Met41Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:20435227|PMID:23861362|PMID:25343256|PMID:25741868|PMID:28492532 10046415 CV189775 NM_024334.3(TMEM43):c.164G>A (p.Gly55Asp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:31376648 10046416 CV189776 NM_024334.3(TMEM43):c.206C>T (p.Ser69Leu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046419 CV189780 NM_024334.3(TMEM43):c.1090G>A (p.Val364Met) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28087566|PMID:28492532 10046433 CV189384 NM_001276345.2(TNNT2):c.752A>G (p.Tyr251Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:20800588|PMID:23861362|PMID:25741868|PMID:28492532|PMID:32880476 10046435 CV189964 NM_001018005.2(TPM1):c.563+266C>T variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868 10046441 CV189416 NM_001267550.2(TTN):c.105128G>A (p.Arg35043His) variant HP:0030051 Tip-toe gait IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Tip-toe gait PMID:23861362|PMID:25741868|PMID:28045975|PMID:28492532|PMID:37091313 10046458 CV189444 NM_001267550.2(TTN):c.98893G>C (p.Asp32965His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046473 CV189469 NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046473 CV189469 NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr) variant HP:0030843 Cardiac amyloidosis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:23861362|PMID:25741868|PMID:28492532 10046475 CV189476 NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser) variant HP:0001663 Ventricular fibrillation IAGP H RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046477 CV189478 NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28750076|PMID:28771489|PMID:29511324|PMID:29892087|PMID:30021846 10046480 CV189485 NM_001267550.2(TTN):c.87496G>A (p.Gly29166Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868 10046485 CV189493 NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046488 CV189498 NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26516846|PMID:28492532 10046492 CV189503 NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046503 CV189539 NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23396983|PMID:23861362|PMID:25741868|PMID:26516846|PMID:28492532|PMID:37091313 10046503 CV189539 NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) variant HP:0004756 Ventricular tachycardia IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:23396983|PMID:23861362|PMID:25741868|PMID:26516846|PMID:28492532|PMID:37091313 10046503 CV189539 NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) variant HP:0030051 Tip-toe gait IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Tip-toe gait PMID:23396983|PMID:23861362|PMID:25741868|PMID:26516846|PMID:28492532|PMID:37091313 10046509 CV189548 NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24011988|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31983221 10046510 CV189551 NM_001267550.2(TTN):c.68824+1G>A variant HP:0001776 Bilateral talipes equinovarus IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Bilateral talipes equinovarus PMID:23861362|PMID:25741868 10046515 CV189560 NM_001267550.2(TTN):c.66386G>A (p.Arg22129His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046518 CV189566 NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046526 CV189582 NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29511324|PMID:35207729 10046529 CV189585 NM_001267550.2(TTN):c.56686G>A (p.Val18896Met) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:26498160|PMID:28492532|PMID:31879508|PMID:34137518 10046529 CV189585 NM_001267550.2(TTN):c.56686G>A (p.Val18896Met) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:26498160|PMID:28492532|PMID:31879508|PMID:34137518 10046533 CV189589 NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046534 CV189590 NM_001267550.2(TTN):c.54740T>C (p.Met18247Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28771489 10046535 CV189591 NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31489791 10046535 CV189591 NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31489791 10046545 CV189601 NM_001267550.2(TTN):c.48595T>C (p.Ser16199Pro) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868 10046546 CV189602 NM_001267550.2(TTN):c.48118C>T (p.Arg16040Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868 10046550 CV189606 NM_001267550.2(TTN):c.45247C>T (p.Arg15083Trp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868 10046554 CV189615 NM_001267550.2(TTN):c.43290A>C (p.Glu14430Asp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868 10046557 CV189619 NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25214167|PMID:25741868|PMID:28492532|PMID:30615648|PMID:31028938 10046557 CV189619 NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) variant HP:0003198 Myopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Myopathic changes PMID:23861362|PMID:24033266|PMID:25214167|PMID:25741868|PMID:28492532|PMID:30615648|PMID:31028938 10046573 CV189655 NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046584 CV189673 NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046593 CV189687 NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046598 CV189692 NM_001267550.2(TTN):c.17302G>A (p.Asp5768Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:37091313 10046598 CV189692 NM_001267550.2(TTN):c.17302G>A (p.Asp5768Asn) variant HP:0030051 Tip-toe gait IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Tip-toe gait PMID:23861362|PMID:25741868|PMID:28492532|PMID:37091313 10046603 CV189698 NM_001267550.2(TTN):c.15086G>A (p.Arg5029Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868 10046607 CV189702 NM_001267550.2(TTN):c.12821G>A (p.Ser4274Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046631 CV189733 NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24667040|PMID:25741868|PMID:27321809|PMID:28492532 10046635 CV189738 NM_001267550.2(TTN):c.8788G>A (p.Val2930Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046641 CV189745 NM_001267550.2(TTN):c.6668A>T (p.His2223Leu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046641 CV189745 NM_001267550.2(TTN):c.6668A>T (p.His2223Leu) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046650 CV189756 NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046654 CV189760 NM_001267550.2(TTN):c.3241G>T (p.Ala1081Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046663 CV189863 NM_014000.3(VCL):c.404T>C (p.Ile135Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:29875424 10046665 CV189865 NM_014000.3(VCL):c.1157A>G (p.Lys386Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046669 CV189869 NM_014000.3(VCL):c.2521G>C (p.Asp841His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046671 CV189894 NM_020297.4(ABCC9):c.4512+746_4512+747insT variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046674 CV189396 NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046677 CV189824 NM_004415.4(DSP):c.3297G>C (p.Lys1099Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046677 CV189824 NM_004415.4(DSP):c.3297G>C (p.Lys1099Asn) variant HP:0001644 Dilated cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE PMID:23861362|PMID:25741868|PMID:28492532 10046678 CV189826 NM_004415.4(DSP):c.4034A>C (p.Glu1345Ala) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046679 CV189827 NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23514727|PMID:23524727|PMID:23861362|PMID:25741868|PMID:28492532 10046681 CV189939 NM_002471.4(MYH6):c.2591C>T (p.Thr864Met) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532|PMID:33325730|PMID:35621855 10046684 CV189849 NM_032578.4(MYPN):c.1790G>A (p.Arg597His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046687 CV189910 NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046689 CV189962 NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28798025|PMID:31568572 10046689 CV189962 NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28798025|PMID:31568572 10046689 CV189962 NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) variant HP:0030682 Left ventricular noncompaction IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28798025|PMID:31568572 10046691 CV189921 NM_001032283.3(TMPO):c.565+1696C>T variant HP:0011034 Amyloidosis IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidosis PMID:23861362|PMID:24375709|PMID:24448499|PMID:25741868|PMID:28074886|PMID:28492532|PMID:30327538 10046693 CV189409 NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27930701|PMID:28492532|PMID:33449170 10046694 CV189449 NM_001267550.2(TTN):c.98500G>A (p.Glu32834Lys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25163546|PMID:25741868|PMID:28492532 10046695 CV189451 NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046696 CV189467 NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046700 CV189507 NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046701 CV189516 NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046702 CV189522 NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:37091313 10046702 CV189522 NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly) variant HP:0030051 Tip-toe gait IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Tip-toe gait PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:37091313 10046704 CV189524 NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046706 CV189541 NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25556389|PMID:25741868|PMID:26467025|PMID:28492532 10046707 CV189578 NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046708 CV189580 NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046709 CV173874 NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868 10046712 CV189634 NM_001267550.2(TTN):c.37735G>A (p.Ala12579Thr) variant HP:0001644 Dilated cardiomyopathy IAGP H RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE PMID:23861362 10046724 CV189770 NM_001267550.2(TTN):c.43G>A (p.Val15Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046725 CV189870 NM_014000.3(VCL):c.2827C>G (p.Pro943Ala) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:15769782|PMID:16236538|PMID:23861362|PMID:25351510|PMID:25741868|PMID:28492532 10046726 CV189992 NM_001943.5(DSG2):c.2568A>C (p.Lys856Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868 10046727 CV189858 NM_032578.4(MYPN):c.3421G>A (p.Ala1141Thr) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:28492532 10046729 CV190023 NM_000179.3(MSH6):c.4072A>G (p.Lys1358Glu) variant HP:0012114 Endometrial carcinoma IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:23621914|PMID:25741868 10046730 CV190025 NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala) variant HP:0003002 Breast carcinoma IAGP H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Breast cancer PMID:25741868|PMID:26483394|PMID:28492532|PMID:29659569|PMID:29887214|PMID:30256826|PMID:30337059 10046731 CV190033 NM_001349884.2(DRAM2):c.494G>A (p.Trp165Ter) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25983245|PMID:28492532 10046731 CV190033 NM_001349884.2(DRAM2):c.494G>A (p.Trp165Ter) variant HP:0030635 Retinal dystrophy with early macular involvement IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinal dystrophy with early macular involvement PMID:25983245|PMID:28492532 10046735 CV136392 NG_008939.1(PCCB):g.896_8947del variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Propionic acidemia 10046736 CV189217 NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:19706159|PMID:25741868|PMID:25904541|PMID:28492532|PMID:31983221 10046737 CV189253 NM_001148.6(ANK2):c.11683G>C (p.Val3895Leu) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23861362 10046738 CV189213 NM_000335.5(SCN5A):c.4591G>T (p.Val1531Phe) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19167345|PMID:19716085|PMID:23861362|PMID:25741868|PMID:25904541|PMID:26798387|PMID:28492532|PMID:28589536|PMID:29806494 10046738 CV189213 NM_000335.5(SCN5A):c.4591G>T (p.Val1531Phe) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:19167345|PMID:19716085|PMID:23861362|PMID:25741868|PMID:25904541|PMID:26798387|PMID:28492532|PMID:28589536|PMID:29806494 10046739 CV189214 NM_000335.5(SCN5A):c.2423G>A (p.Arg808His) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868 10046739 CV189214 NM_000335.5(SCN5A):c.2423G>A (p.Arg808His) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:23861362|PMID:25741868 10046741 CV189373 NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19684871|PMID:20009079|PMID:23861362|PMID:24319568|PMID:25650408|PMID:25741868|PMID:25956966|PMID:26159999|PMID:28492532|PMID:29343803 10046745 CV190061 NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His) variant HP:0030051 Tip-toe gait IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Toe walking PMID:25741868|PMID:26004199|PMID:28492532 10046762 CV190105 NM_000257.4(MYH7):c.556G>C (p.Val186Leu) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16199542|PMID:25741868 10046765 CV190102 NM_000257.4(MYH7):c.2578A>G (p.Lys860Glu) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:27247418|PMID:27532257|PMID:28408708|PMID:28492532|PMID:28790153|PMID:32894683 10046784 CV190110 NM_001330260.2(SCN8A):c.2952C>G (p.Asn984Lys) variant HP:0001250 Seizure IAGP H RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Seizure PMID:25725044|PMID:25741868|PMID:32581362 10046784 CV190110 NM_001330260.2(SCN8A):c.2952C>G (p.Asn984Lys) variant HP:0001263 Global developmental delay IAGP H RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25725044|PMID:25741868|PMID:32581362 10046790 CV187273 NM_199261.4(TPTE):c.1357-3_1357-2del variant HP:0000729 Autistic behavior IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:26076356 10046798 CV189882 NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19608031|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:25089522|PMID:25741868|PMID:27143260|PMID:28492532|PMID:28518168|PMID:28672880|PMID:31737537 10046798 CV189882 NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) variant HP:0001644 Dilated cardiomyopathy IAGP H RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy PMID:19608031|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:25089522|PMID:25741868|PMID:27143260|PMID:28492532|PMID:28518168|PMID:28672880|PMID:31737537 10046799 CV189956 NM_000257.4(MYH7):c.2795T>C (p.Met932Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:21302287|PMID:23861362|PMID:25741868|PMID:27532257|PMID:28002430|PMID:28492532 10046799 CV189956 NM_000257.4(MYH7):c.2795T>C (p.Met932Thr) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:21302287|PMID:23861362|PMID:25741868|PMID:27532257|PMID:28002430|PMID:28492532 10046802 CV190036 NM_001349884.2(DRAM2):c.140del (p.Gly47fs) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25983245 10046802 CV190036 NM_001349884.2(DRAM2):c.140del (p.Gly47fs) variant HP:0030635 Retinal dystrophy with early macular involvement IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinal dystrophy with early macular involvement PMID:25983245 10046828 CV189952 NM_000257.4(MYH7):c.4240C>A (p.Leu1414Met) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:18403758|PMID:23861362|PMID:25741868|PMID:28492532 10046848 CV190135 NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter) variant HP:0002804 Arthrogryposis multiplex congenita IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arthrogryposis, congenital PMID:26004201|PMID:26752647 10046849 CV190136 NM_198569.3(ADGRG6):c.2144dup (p.Gln716fs) variant HP:0002804 Arthrogryposis multiplex congenita IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arthrogryposis, congenital PMID:26004201 10046850 CV190137 NM_198569.3(ADGRG6):c.2306T>A (p.Val769Glu) variant HP:0002804 Arthrogryposis multiplex congenita IAGP H RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:26004201 10046874 CV189256 NM_000238.4(KCNH2):c.3394C>G (p.Pro1132Ala) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23631430|PMID:23861362|PMID:25741868|PMID:28492532|PMID:31696929|PMID:34930020 10046874 CV189256 NM_000238.4(KCNH2):c.3394C>G (p.Pro1132Ala) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23631430|PMID:23861362|PMID:25741868|PMID:28492532|PMID:31696929|PMID:34930020 10046878 CV189212 NM_000335.5(SCN5A):c.5210C>T (p.Ser1737Phe) variant HP:0001989 Fetal akinesia sequence IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Fetal akinesia sequence PMID:23861362|PMID:25741868|PMID:28492532|PMID:31680123 10046878 CV189212 NM_000335.5(SCN5A):c.5210C>T (p.Ser1737Phe) variant HP:0002804 Arthrogryposis multiplex congenita IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arthrogryposis, congenital PMID:23861362|PMID:25741868|PMID:28492532|PMID:31680123 10046878 CV189212 NM_000335.5(SCN5A):c.5210C>T (p.Ser1737Phe) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:23861362|PMID:25741868|PMID:28492532|PMID:31680123 10046879 CV189369 NM_003098.3(SNTA1):c.1498C>T (p.Arg500Cys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:26132555|PMID:28492532 10046881 CV189893 NM_000432.4(MYL2):c.431del (p.Pro144fs) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23365102|PMID:23861362|PMID:25741868|PMID:28492532|PMID:28855170 10046885 CV189365 NM_005477.2(HCN4):c.1209_1209+1insGTGA variant HP:0004756 Ventricular tachycardia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia 10046886 CV189194 NM_001035.3(RYR2):c.5657dup (p.Lys1887fs) variant HP:0031677 Polymorphic ventricular tachycardia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Polymorphic ventricular tachycardia PMID:25741868 10046887 CV189224 NM_001148.6(ANK2):c.2474C>T (p.Thr825Ile) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:26132555 10046889 CV189317 NM_201596.3(CACNB2):c.1206+4_1206+7dup variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046889 CV189317 NM_201596.3(CACNB2):c.1206+4_1206+7dup variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23861362|PMID:28492532 10046898 CV189954 NM_000257.4(MYH7):c.3442G>A (p.Glu1148Lys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868 10046945 CV189969 NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046948 CV189973 NM_002230.4(JUP):c.352G>A (p.Glu118Lys) variant HP:0001712 Left ventricular hypertrophy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:23861362|PMID:25741868|PMID:28492532 10046950 CV189788 NM_001105206.3(LAMA4):c.5437G>A (p.Gly1813Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10047000 CV189805 NM_001105206.3(LAMA4):c.668G>A (p.Arg223His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:28798025 10047018 CV189957 NM_000257.4(MYH7):c.1301G>A (p.Arg434Lys) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10047037 CV190038 NM_001349884.2(DRAM2):c.79T>C (p.Tyr27His) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25983245 10047038 CV190035 NM_001349884.2(DRAM2):c.217_225del (p.Val73_Tyr75del) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25983245 10047039 CV190034 NM_001349884.2(DRAM2):c.362A>T (p.His121Leu) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25983245 10047039 CV190034 NM_001349884.2(DRAM2):c.362A>T (p.His121Leu) variant HP:0030635 Retinal dystrophy with early macular involvement IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinal dystrophy with early macular involvement PMID:25983245 10047040 CV190037 NM_001349884.2(DRAM2):c.131G>A (p.Ser44Asn) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25983245 10047040 CV190037 NM_001349884.2(DRAM2):c.131G>A (p.Ser44Asn) variant HP:0030635 Retinal dystrophy with early macular involvement IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinal dystrophy with early macular involvement PMID:25983245 10047043 CV190052 NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile) variant HP:0000256 Macrocephaly IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: large head PMID:22457051|PMID:25741868|PMID:26076356|PMID:28492532|PMID:30776697|PMID:32921676 10047043 CV190052 NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile) variant HP:0000729 Autistic behavior IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:22457051|PMID:25741868|PMID:26076356|PMID:28492532|PMID:30776697|PMID:32921676 10047426 CV190155 NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln) variant HP:0011170 Generalized myoclonic-atonic seizure IAGP H RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure PMID:25865495|PMID:27959697|PMID:28191889|PMID:28492532|PMID:34006619 10047427 CV190156 NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg) variant HP:0011170 Generalized myoclonic-atonic seizure IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure PMID:25741868|PMID:25865495|PMID:28492532|PMID:34653234 10047428 CV190157 NM_003042.4(SLC6A1):c.1000G>C (p.Ala334Pro) variant HP:0011170 Generalized myoclonic-atonic seizure IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure PMID:25865495|PMID:28492532|PMID:34028503|PMID:36674476 10047429 CV190158 NM_003042.4(SLC6A1):c.1369_1370del (p.Gly457fs) variant HP:0011170 Generalized myoclonic-atonic seizure IAGP H RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure PMID:25865495 10047430 CV190159 NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) variant HP:0000729 Autistic behavior IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:22495306|PMID:24859339|PMID:25741868|PMID:25865495|PMID:28492532|PMID:29315614 10047430 CV190159 NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) variant HP:0011170 Generalized myoclonic-atonic seizure IAGP H RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure PMID:22495306|PMID:24859339|PMID:25741868|PMID:25865495|PMID:28492532|PMID:29315614 10047434 CV190164 NM_006744.4(RBP4):c.217G>A (p.Ala73Thr) variant HP:0007633 Bilateral microphthalmos IAGP H RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Bilateral microphthalmos PMID:25741868|PMID:25910211 10047457 CV190208 Single allele variant HP:0002861 Melanoma IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT 10047466 CV190231 NM_000261.2(MYOC):c.227G>A (p.Arg76Lys) variant HP:0000501 Glaucoma IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glaucoma PMID:16466712|PMID:18776955|PMID:23029558|PMID:25741868|PMID:28492532|PMID:35196929|PMID:9535666 10047466 CV190231 NM_000261.2(MYOC):c.227G>A (p.Arg76Lys) variant HP:0001087 Developmental glaucoma IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental glaucoma PMID:16466712|PMID:18776955|PMID:23029558|PMID:25741868|PMID:28492532|PMID:35196929|PMID:9535666 10047468 CV190239 NM_000283.4(PDE6B):c.132C>G (p.Cys44Trp) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10047472 CV190247 NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del) variant HP:0009919 Retinoblastoma IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:24728327|PMID:25741868|PMID:28492532|PMID:30773851 10047476 CV190267 NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys) variant HP:0006770 Clear cell renal cell carcinoma IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:16249435|PMID:16371430|PMID:20155289|PMID:21775974|PMID:23539225|PMID:24387224|PMID:24897035|PMID:24961278|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26024028|PMID:26059258|PMID:26226118|PMID:26467025|PMID:28492532|PMID:31365591|PMID:31595705|PMID:33324081 10047480 CV190271 NM_000518.5(HBB):c.9T>C (p.His3=) variant HP:0005511 Heinz body anemia IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Heinz body anemia PMID:24099628|PMID:25741868|PMID:28492532|PMID:31714438 10047481 CV190272 NM_000523.4(HOXD13):c.204G>A (p.Ala68=) variant HP:0005627 Type D brachydactyly IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brachydactyly type D PMID:25741868|PMID:28492532 10047484 CV190284 NM_000557.5(GDF5):c.462C>A (p.Pro154=) variant HP:0001156 Brachydactyly IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Brachydactyly syndrome PMID:25741868|PMID:28492532 10047490 CV190298 NM_001029883.3(PCARE):c.3668+14T>C variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10047492 CV190304 NM_001029883.3(PCARE):c.3178C>A (p.Pro1060Thr) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10047493 CV190305 NM_001029883.3(PCARE):c.3114G>C (p.Val1038=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10047494 CV190306 NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20811058|PMID:21412943|PMID:25741868|PMID:28492532 10047496 CV190310 NM_001029883.3(PCARE):c.2112T>C (p.Asn704=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10047496 CV190310 NM_001029883.3(PCARE):c.2112T>C (p.Asn704=) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10047497 CV190311 NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20811058|PMID:21412943|PMID:25741868|PMID:28492532 10047498 CV190312 NM_001029883.3(PCARE):c.1882G>A (p.Ala628Thr) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:21412943|PMID:28492532 10047516 CV190368 NM_001287.6(CLCN7):c.126T>C (p.Pro42=) variant HP:0011002 Osteopetrosis IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Osteopetrosis PMID:25741868|PMID:28492532 10047525 CV190388 NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Nonprogressive mental retardation PMID:19266219|PMID:25741868|PMID:26467025|PMID:28492532 10047533 CV190420 NM_003701.4(TNFSF11):c.80A>G (p.Glu27Gly) variant HP:0011001 Increased bone mineral density IAGP H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Increased bone mineral density PMID:25741868|PMID:28492532 10047535 CV190422 NM_003839.4(TNFRSF11A):c.75+5G>A variant HP:0011002 Osteopetrosis IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Osteopetrosis PMID:25741868|PMID:28492532 10047535 CV190422 NM_003839.4(TNFRSF11A):c.75+5G>A variant HP:0034159 Paget disease of bone IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Paget disease of bone PMID:25741868|PMID:28492532 10047545 CV190457 NM_004820.5(CYP7B1):c.56T>C (p.Leu19Pro) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:19439420|PMID:25741868|PMID:26370385|PMID:26467025|PMID:28492532 10047554 CV172293 NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro) variant HP:0002123 Generalized myoclonic seizure IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:11735300|PMID:14706656|PMID:16021330|PMID:25741868|PMID:26467025|PMID:28492532 10047555 CV190494 NM_006017.3(PROM1):c.55T>G (p.Ser19Ala) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10047561 CV190512 NM_006517.5(SLC16A2):c.123C>T (p.Pro41=) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:28492532 10047565 CV190520 NM_012186.3(FOXE3):c.618C>G (p.Ala206=) variant HP:0007700 Ocular anterior segment dysgenesis IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:25741868|PMID:28492532 10047566 CV190521 NM_012186.3(FOXE3):c.510C>T (p.Ala170=) variant HP:0007700 Ocular anterior segment dysgenesis IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:25741868|PMID:28492532 10047572 CV190537 NM_178138.6(LHX3):c.79+2007T>C variant HP:0005110 Atrial fibrillation IAGP H RGD:405850206 20240719 GWAS_CATALOG Based on the EFO term ID PMID:36653681 10047604 CV190669 NM_153240.5(NPHP3):c.273del (p.Glu90_Tyr91insTer) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:18371931|PMID:23559409|PMID:28492532 10047621 CV190722 NM_000155.4(GALT):c.1052del (p.Pro351fs) variant HP:0004919 Galactose intolerance IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Galactose intolerance PMID:10408771|PMID:11261429|PMID:21150919|PMID:25741868|PMID:28492532|PMID:30718057 10047621 CV190722 NM_000155.4(GALT):c.1052del (p.Pro351fs) variant HP:0012024 Hypergalactosemia IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Galactosemia PMID:10408771|PMID:11261429|PMID:21150919|PMID:25741868|PMID:28492532|PMID:30718057 10047624 CV190727 NM_000182.5(HADHA):c.919-2A>G variant HP:0100950 Decreased 3-hydroxyacyl-CoA dehydrogenase level IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:15902556|PMID:16199547|PMID:21103935|PMID:21549624|PMID:22459206|PMID:25087612|PMID:25741868|PMID:28492532|PMID:32778825|PMID:7738175 10047630 CV190739 NM_000282.4(PCCA):c.775_779del (p.Leu259fs) variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:15464417|PMID:25741868|PMID:28492532|PMID:9887338 10047631 CV190742 NM_000350.3(ABCA4):c.1356+10dup variant HP:0000608 Macular degeneration IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Pigmented macular degeneration PMID:25741868|PMID:28492532 10047637 CV190761 Single allele variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Propionic acidemia 10047638 CV190768 NM_001127644.2(GABRA1):c.857-9dup variant HP:0002197 Generalized-onset seizure IAGP H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Generalised epilepsy PMID:28492532 10047639 CV190769 NM_001127644.2(GABRA1):c.857-9del variant HP:0002197 Generalized-onset seizure IAGP H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Generalised epilepsy PMID:28492532 10047641 CV190774 NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) variant HP:0100315 Lewy bodies IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lewy Body Disease PMID:10079102|PMID:10685993|PMID:10796875|PMID:11783951|PMID:17395504|PMID:20301446|PMID:20947659|PMID:21704274|PMID:22234757|PMID:25741868|PMID:27008851|PMID:28492532|PMID:28727984|PMID:8432537|PMID:8516282|PMID:9153297 10047642 CV190790 NM_001287.6(CLCN7):c.900G>A (p.Ala300=) variant HP:0011001 Increased bone mineral density IAGP H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Increased bone mineral density PMID:25741868|PMID:28492532 10047642 CV190790 NM_001287.6(CLCN7):c.900G>A (p.Ala300=) variant HP:0011002 Osteopetrosis IAGP H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteopetrosis PMID:25741868|PMID:28492532 10047643 CV190791 NM_001297.5(CNGB1):c.634A>T (p.Thr212Ser) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10047648 CV190802 NM_002335.4(LRP5):c.2220C>T (p.Asn740=) variant HP:0011001 Increased bone mineral density IAGP H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:11793484|PMID:12579474|PMID:14727154|PMID:15077203|PMID:15767861|PMID:16679074|PMID:17137849|PMID:17223614|PMID:17306638|PMID:17395706|PMID:17505772|PMID:18588671|PMID:25741868|PMID:26467025|PMID:28492532 10047658 CV190826 NM_004006.3(DMD):c.1093C>T (p.Gln365Ter) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:15351422|PMID:16770791|PMID:19937601|PMID:25007885|PMID:25525159|PMID:25741868|PMID:28492532|PMID:28859693 10047660 CV190829 NM_004183.4(BEST1):c.1410G>A (p.Thr470=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10047660 CV190829 NM_004183.4(BEST1):c.1410G>A (p.Thr470=) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10047661 CV190830 NM_004183.4(BEST1):c.1474G>A (p.Val492Ile) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10047673 CV190865 NM_014014.5(SNRNP200):c.1159A>G (p.Met387Val) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10047674 CV190874 NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:23280630|PMID:25741868|PMID:26467025|PMID:28492532 10047677 CV190883 NM_015629.4(PRPF31):c.1073+1G>A variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:16799052|PMID:18317597|PMID:23950152|PMID:28492532 10047683 CV190903 NM_024649.5(BBS1):c.887del (p.Ile296fs) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12118255|PMID:20472660|PMID:25741868|PMID:28492532 10047712 CV191010 NM_001793.6(CDH3):c.1436T>C (p.Leu479Pro) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532|PMID:32483926 10047730 CV191066 NM_015346.4(ZFYVE26):c.2067C>T (p.Leu689=) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:26467025|PMID:28492532 10047742 CV191114 NM_207352.4(CYP4V2):c.1446G>A (p.Ser482=) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 10047742 CV191114 NM_207352.4(CYP4V2):c.1446G>A (p.Ser482=) variant HP:0001131 Corneal dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Corneal dystrophy PMID:28492532 10047753 CV191152 Single allele variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Propionic acidemia 10047767 CV191194 NM_001142800.2(EYS):c.1985G>T (p.Arg662Met) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10047767 CV191194 NM_001142800.2(EYS):c.1985G>T (p.Arg662Met) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 10047772 CV191201 NM_001458.5(FLNC):c.1902G>A (p.Glu634=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 10047774 CV191210 NM_002335.4(LRP5):c.2529C>T (p.Asp843=) variant HP:0000939 Osteoporosis IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:25741868|PMID:28492532 10047780 CV191224 NM_004984.4(KIF5A):c.1293+9G>A variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 10047800 CV191289 NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868|PMID:28492532 10047800 CV191289 NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) variant HP:0000548 Cone/cone-rod dystrophy IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868|PMID:28492532 10047807 CV191314 NM_000096.4(CP):c.2286-15G>T variant HP:0025498 Aceruloplasminemia IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Aceruloplasminemia PMID:25741868|PMID:28492532 10047821 CV191344 NM_000532.5(PCCB):c.1398+1G>T variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:15464417|PMID:16199547|PMID:25741868|PMID:28492532|PMID:32252659|PMID:8023851 10047823 CV191349 NM_000883.4(IMPDH1):c.1405+9A>G variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10047826 CV191357 NM_001142800.2(EYS):c.2055T>A (p.Cys685Ter) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18836446|PMID:20333770|PMID:25741868|PMID:28492532 10047844 CV191424 NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10047844 CV191424 NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10047870 CV191486 NM_000180.4(GUCY2D):c.2577G>T (p.Pro859=) variant HP:0008020 Cone dystrophy IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Cone dystrophy progressive PMID:24033266|PMID:25741868|PMID:28492532 10047878 CV191521 NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18836446|PMID:20333770|PMID:23591405|PMID:25741868|PMID:28492532|PMID:34906470 10047878 CV191521 NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:18836446|PMID:20333770|PMID:23591405|PMID:25741868|PMID:28492532|PMID:34906470 10047879 CV191522 NM_001165963.4(SCN1A):c.2421C>T (p.Phe807=) variant HP:0001250 Seizure IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868|PMID:28492532 10047896 CV191556 NM_006019.4(TCIRG1):c.1672G>C (p.Val558Leu) variant HP:0011001 Increased bone mineral density IAGP H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Increased bone mineral density PMID:25741868|PMID:28492532 10047899 CV191567 NM_014425.5(INVS):c.2509C>T (p.Gln837Ter) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 10047912 CV191624 NM_000168.6(GLI3):c.2826G>C (p.Pro942=) variant HP:0010442 Polydactyly IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:25741868|PMID:28492532 10047913 CV191625 NM_000168.6(GLI3):c.3664C>T (p.Pro1222Ser) variant HP:0010442 Polydactyly IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:25741868|PMID:28492532 10047914 CV191626 NM_000168.6(GLI3):c.2835G>C (p.Leu945=) variant HP:0010442 Polydactyly IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:25741868|PMID:28492532 10047918 CV191636 NM_000440.3(PDE6A):c.1926+1G>A variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:22128245|PMID:23847139|PMID:25741868|PMID:28492532|PMID:31964843|PMID:32531858|PMID:33057649|PMID:7493036 10047918 CV191636 NM_000440.3(PDE6A):c.1926+1G>A variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:22128245|PMID:23847139|PMID:25741868|PMID:28492532|PMID:31964843|PMID:32531858|PMID:33057649|PMID:7493036 10047921 CV191655 NM_001297.5(CNGB1):c.1122-15C>T variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10047936 CV191726 NM_025114.4(CEP290):c.1522+6C>T variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10047947 CV191752 NM_000096.4(CP):c.2662-12T>C variant HP:0025498 Aceruloplasminemia IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Aceruloplasminemia PMID:25741868|PMID:28492532 10047949 CV191756 NM_000282.4(PCCA):c.1429+7A>G variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:25741868|PMID:28492532 10047950 CV191759 NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) variant HP:0008166 Decreased beta-galactosidase activity IAGP H RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Beta galactosidase 1 deficiency PMID:16941474|PMID:17309651|PMID:17664528|PMID:23430803|PMID:25326635|PMID:25741868|PMID:28492532|PMID:37673932 10047952 CV191769 NM_000541.5(SAG):c.1207G>A (p.Val403Ile) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10047952 CV191769 NM_000541.5(SAG):c.1207G>A (p.Val403Ile) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10047975 CV191835 NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter) variant HP:0004808 Acute myeloid leukemia IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia PMID:12464997|PMID:25741868|PMID:28492532 10047975 CV191835 NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter) variant HP:0012758 Neurodevelopmental delay IAGP H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental delay PMID:12464997|PMID:25741868|PMID:28492532 10047976 CV191839 NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu) variant HP:0007354 Amyotrophic lateral sclerosis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Lou gehrig's disease PMID:19466474|PMID:23733235|PMID:24833714|PMID:25588603|PMID:25741868|PMID:26467025|PMID:27904835|PMID:28492532 10047987 CV191868 Single allele variant HP:0009919 Retinoblastoma IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinoblastoma 10047998 CV191904 NM_004006.3(DMD):c.2096C>G (p.Ala699Gly) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 10048010 CV191949 NM_023110.3(FGFR1):c.2187-6C>T variant HP:0001363 Craniosynostosis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Craniosynostosis PMID:23348397|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532 10048021 CV191974 NM_000321.3(RB1):c.1696-1G>A variant HP:0009919 Retinoblastoma IAGP H RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:16199547|PMID:17096365|PMID:25741868|PMID:28492532|PMID:7704558 10048025 CV191990 NM_001297.5(CNGB1):c.1626C>T (p.Thr542=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10048028 CV191999 NM_002335.4(LRP5):c.4000+10T>A variant HP:0011001 Increased bone mineral density IAGP H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:25741868|PMID:28492532 10048049 CV192053 NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser) variant HP:0001363 Craniosynostosis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Premature suture closure PMID:12627230|PMID:15365636|PMID:17154279|PMID:18160472|PMID:19707180|PMID:22378383|PMID:25741868|PMID:28492532 10048057 CV192077 NM_000180.4(GUCY2D):c.3225-7C>T variant HP:0008020 Cone dystrophy IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Cone dystrophy progressive PMID:25741868|PMID:28492532 10048058 CV192078 NM_000180.4(GUCY2D):c.3297G>A (p.Pro1099=) variant HP:0008020 Cone dystrophy IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Cone dystrophy progressive PMID:25741868|PMID:28492532 10048059 CV192079 NM_000182.5(HADHA):c.2146+1G>A variant HP:0100950 Decreased 3-hydroxyacyl-CoA dehydrogenase level IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10048066 CV192104 NM_001378452.1(ITPR1):c.2007-3T>C variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21367767|PMID:25741868|PMID:26467025|PMID:28492532 10048067 CV192105 NM_002335.4(LRP5):c.4089C>T (p.Asp1363=) variant HP:0011001 Increased bone mineral density IAGP H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:25741868|PMID:28492532 10048068 CV192113 NM_004006.3(DMD):c.2380+10C>T variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10048078 CV192146 NM_001366722.1(GRIP1):c.2606G>A (p.Arg869Gln) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 10048091 CV192190 NM_000169.3(GLA):c.335G>A (p.Arg112His) variant HP:0001071 Angiokeratoma corporis diffusum IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum PMID:11889412|PMID:15776423|PMID:17532296|PMID:17555407|PMID:18205205|PMID:20022777|PMID:21598360|PMID:23691425|PMID:23913314|PMID:23935525|PMID:24033266|PMID:24386359|PMID:25026990|PMID:25040344|PMID:25382311|PMID:25596309|PMID:25741868|PMID:26563328|PMID:27831900|PMID:27979989|PMID:28492532|PMID:30386727|PMID:30594474|PMID:32023956|PMID:33204599|PMID:34803097|PMID:37480128|PMID:7531540 10048098 CV192207 NM_000217.3(KCNA1):c.1296C>G (p.Ser432=) variant HP:0002411 Myokymia IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Myokymia PMID:25741868|PMID:26467025|PMID:28492532 10048106 CV192236 NM_000404.4(GLB1):c.203G>A (p.Arg68Gln) variant HP:0008166 Decreased beta-galactosidase activity IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta galactosidase 1 deficiency PMID:12644936|PMID:19472408|PMID:22128166|PMID:25936995|PMID:28492532|PMID:29439846 10048109 CV192240 NM_000515.5(GH1):c.150C>A (p.Ala50=) variant HP:0000824 Decreased response to growth hormone stimulation test IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Decreased response to growth hormone stimulation test PMID:28492532 10048109 CV192240 NM_000515.5(GH1):c.150C>A (p.Ala50=) variant HP:0034323 Reduced circulating growth hormone concentration IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Growth hormone deficiency PMID:28492532 10048110 CV192241 NM_000515.5(GH1):c.152T>A (p.Phe51Tyr) variant HP:0000824 Decreased response to growth hormone stimulation test IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Decreased response to growth hormone stimulation test PMID:18473352|PMID:25741868|PMID:28492532 10048110 CV192241 NM_000515.5(GH1):c.152T>A (p.Phe51Tyr) variant HP:0034323 Reduced circulating growth hormone concentration IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Growth hormone deficiency PMID:18473352|PMID:25741868|PMID:28492532 10048120 CV192268 NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10048120 CV192268 NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10048136 CV192309 NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) variant HP:0002657 Spondylometaphyseal dysplasia IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:12429249|PMID:20179744|PMID:23592912|PMID:25741868|PMID:28492532|PMID:28559085 10048136 CV192309 NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) variant HP:0005743 Avascular necrosis of the capital femoral epiphysis IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Perthes-like femoral head changes PMID:12429249|PMID:20179744|PMID:23592912|PMID:25741868|PMID:28492532|PMID:28559085 10048149 CV192361 NM_001367721.1(CASK):c.79C>T (p.Arg27Ter) variant HP:0001321 Cerebellar hypoplasia IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:21735175|PMID:25326635|PMID:25741868|PMID:25886057|PMID:31474318 10048160 CV192393 NM_004820.5(CYP7B1):c.123-9del variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 10048161 CV192398 NM_001256789.3(CACNA1F):c.244C>T (p.Arg82Ter) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11281458|PMID:17525176|PMID:22194652|PMID:24124559|PMID:26992781|PMID:28492532|PMID:30718709|PMID:9662399 10048215 CV192586 NM_153717.3(EVC):c.284A>G (p.Asp95Gly) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10048225 CV192617 NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter) variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:15464417|PMID:27489777|PMID:28492532 10048228 CV192623 NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22128245|PMID:23847139|PMID:25741868|PMID:28492532|PMID:30718709|PMID:3196484|PMID:33057649|PMID:7493036 10048228 CV192623 NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:22128245|PMID:23847139|PMID:25741868|PMID:28492532|PMID:30718709|PMID:3196484|PMID:33057649|PMID:7493036 10048236 CV192646 NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=) variant HP:0000939 Osteoporosis IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:25741868|PMID:28492532 10048238 CV192653 NM_004006.3(DMD):c.2381-3T>C variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:18583217|PMID:25636106|PMID:25741868|PMID:28492532 10048239 CV192656 NM_004006.3(DMD):c.2479G>T (p.Glu827Ter) variant HP:0003011 Abnormality of the musculature IAGP H RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the musculature PMID:25741868 10048241 CV192662 NM_006363.6(SEC23B):c.*9_*10del variant HP:0004810 Congenital hypoplastic anemia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia PMID:25741868 10048252 CV192691 NM_024753.5(TTC21B):c.2569-10dup variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10048262 CV192721 NM_000282.4(PCCA):c.1899+4_1899+7del variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:10101253|PMID:10780784|PMID:12385775|PMID:15235904|PMID:17576681|PMID:22033733|PMID:23348723|PMID:25741868|PMID:28492532|PMID:33473339|PMID:6790853|PMID:9385377|PMID:9536098 10048263 CV192723 NM_000368.5(TSC1):c.2626-4dup variant HP:0012798 Pulmonary lymphangiomyomatosis IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lymphangioleiomyomatosis PMID:25741868|PMID:28492532 10048263 CV192723 NM_000368.5(TSC1):c.2626-4dup variant HP:0032051 Focal cortical dysplasia type II IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Focal cortical dysplasia type II PMID:25741868|PMID:28492532 10048264 CV192725 NM_000368.5(TSC1):c.2626-5_2626-4del variant HP:0012798 Pulmonary lymphangiomyomatosis IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lymphangioleiomyomatosis PMID:25741868|PMID:28492532 10048264 CV192725 NM_000368.5(TSC1):c.2626-5_2626-4del variant HP:0032051 Focal cortical dysplasia type II IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Focal cortical dysplasia type II PMID:25741868|PMID:28492532 10048270 CV192743 Single allele variant HP:0032388 Periventricular nodular heterotopia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: periventricular nodular heterotopia 10048276 CV192760 NM_004006.3(DMD):c.2745A>C (p.Thr915=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10048297 CV192826 NM_001142800.2(EYS):c.3443+1G>T variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:18836446|PMID:20237254|PMID:20333770|PMID:25097241|PMID:25741868|PMID:26667666|PMID:28492532|PMID:29550188|PMID:34906470 10048297 CV192826 NM_001142800.2(EYS):c.3443+1G>T variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:18836446|PMID:20237254|PMID:20333770|PMID:25097241|PMID:25741868|PMID:26667666|PMID:28492532|PMID:29550188|PMID:34906470 10048306 CV192847 NM_014014.5(SNRNP200):c.3005A>G (p.Asn1002Ser) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10048306 CV192847 NM_014014.5(SNRNP200):c.3005A>G (p.Asn1002Ser) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10048318 CV192913 NM_004006.3(DMD):c.2971G>C (p.Glu991Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:14695533|PMID:19937601|PMID:25163546|PMID:26467025|PMID:28492532 10048322 CV192931 NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Nonprogressive mental retardation PMID:25741868|PMID:28492532 10048323 CV192938 NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:24033266|PMID:25741868|PMID:28492532 10048323 CV192938 NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) variant HP:0012622 Chronic kidney disease IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Progressive renal insufficiency PMID:24033266|PMID:25741868|PMID:28492532 10048348 CV193046 NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr) variant HP:0005978 Type II diabetes mellitus IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532|PMID:34609116 10048362 CV193097 NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18836446|PMID:20333770|PMID:20537394|PMID:21217109|PMID:24265693|PMID:25491159|PMID:25741868|PMID:28492532|PMID:30718709|PMID:31074760|PMID:31964843|PMID:32037395|PMID:32531858|PMID:34906470|PMID:36819107 10048362 CV193097 NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:18836446|PMID:20333770|PMID:20537394|PMID:21217109|PMID:24265693|PMID:25491159|PMID:25741868|PMID:28492532|PMID:30718709|PMID:31074760|PMID:31964843|PMID:32037395|PMID:32531858|PMID:34906470|PMID:36819107 10048363 CV193098 NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20333770|PMID:20537394|PMID:24265693|PMID:25097241|PMID:26806561|PMID:28041643|PMID:28492532 10048366 CV193111 NM_001845.6(COL4A1):c.1815T>C (p.Pro605=) variant HP:0002132 Porencephalic cyst IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Porencephalic cyst PMID:25741868|PMID:26467025|PMID:28492532 10048393 CV193200 NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) variant HP:0001250 Seizure IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizures PMID:23708187|PMID:25326635|PMID:25741868|PMID:26291284|PMID:26645390|PMID:26993267|PMID:28379373|PMID:28492532|PMID:29844171|PMID:31558572|PMID:33818783 10048393 CV193200 NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) variant HP:0011097 Epileptic spasm IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: West syndrome PMID:23708187|PMID:25326635|PMID:25741868|PMID:26291284|PMID:26645390|PMID:26993267|PMID:28379373|PMID:28492532|PMID:29844171|PMID:31558572|PMID:33818783 10048393 CV193200 NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) variant HP:0200134 Epileptic encephalopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:23708187|PMID:25326635|PMID:25741868|PMID:26291284|PMID:26645390|PMID:26993267|PMID:28379373|PMID:28492532|PMID:29844171|PMID:31558572|PMID:33818783 10048414 CV193293 NM_006445.4(PRPF8):c.4467C>T (p.Leu1489=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10048416 CV193295 NM_014014.5(SNRNP200):c.3654C>T (p.Ser1218=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10048416 CV193295 NM_014014.5(SNRNP200):c.3654C>T (p.Ser1218=) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10048422 CV193327 NM_001110556.1(FLNA):c.4778_4779insAA (p.Thr1594Argfs) variant HP:0032388 Periventricular nodular heterotopia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: periventricular nodular heterotopia 10048435 CV193362 NM_000035.4(ALDOB):c.324+8C>G variant HP:0005973 Fructose intolerance IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: FRUCTOSE INTOLERANCE PMID:28492532 10048442 CV193374 NM_000124.4(ERCC6):c.528A>G (p.Arg176=) variant HP:0000608 Macular degeneration IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:25741868|PMID:28492532 10048443 CV193376 NM_000127.3(EXT1):c.1065C>T (p.Cys355=) variant HP:0002762 Multiple exostoses IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Multiple exostoses PMID:25741868|PMID:28492532 10048444 CV193378 NM_000141.5(FGFR2):c.294G>A (p.Thr98=) variant HP:0001363 Craniosynostosis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Craniosynostosis PMID:17264867|PMID:25741868|PMID:26467025|PMID:28492532 10048444 CV193378 NM_000141.5(FGFR2):c.294G>A (p.Thr98=) variant HP:0004439 Craniofacial dysostosis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Craniofacial Dysostosis PMID:17264867|PMID:25741868|PMID:26467025|PMID:28492532 10048445 CV193379 NM_000141.5(FGFR2):c.159G>A (p.Ala53=) variant HP:0001363 Craniosynostosis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Craniosynostosis PMID:25741868|PMID:28492532 10048445 CV193379 NM_000141.5(FGFR2):c.159G>A (p.Ala53=) variant HP:0004439 Craniofacial dysostosis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Craniofacial Dysostosis PMID:25741868|PMID:28492532 10048446 CV193381 NM_000142.5(FGFR3):c.348C>T (p.Arg116=) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25741868|PMID:28492532 10048446 CV193381 NM_000142.5(FGFR3):c.348C>T (p.Arg116=) variant HP:0009725 Bladder neoplasm IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bladder cancer PMID:25741868|PMID:28492532 10048446 CV193381 NM_000142.5(FGFR3):c.348C>T (p.Arg116=) variant HP:0010816 Epidermal nevus IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epidermal nevus PMID:25741868|PMID:28492532 10048446 CV193381 NM_000142.5(FGFR3):c.348C>T (p.Arg116=) variant HP:0030079 Cervix cancer IAGP H RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Cervix cancer PMID:25741868|PMID:28492532 10048453 CV193402 NM_000261.2(MYOC):c.855G>T (p.Thr285=) variant HP:0000501 Glaucoma IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Glaucoma PMID:25741868|PMID:28492532 10048453 CV193402 NM_000261.2(MYOC):c.855G>T (p.Thr285=) variant HP:0001087 Developmental glaucoma IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Developmental glaucoma PMID:25741868|PMID:28492532 10048457 CV193412 NM_000321.3(RB1):c.297G>A (p.Trp99Ter) variant HP:0009919 Retinoblastoma IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:12402348|PMID:17096365|PMID:28492532|PMID:29568217|PMID:7795591 10048467 CV193443 NM_000539.3(RHO):c.541G>A (p.Glu181Lys) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11139241|PMID:1833777|PMID:19913029|PMID:21094163|PMID:24265693|PMID:24935155|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29068140|PMID:30718709|PMID:30977563|PMID:31054281|PMID:31213501|PMID:31456290|PMID:32581362|PMID:33749171|PMID:33781268|PMID:36460718|PMID:36819107|PMID:8253795 10048467 CV193443 NM_000539.3(RHO):c.541G>A (p.Glu181Lys) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11139241|PMID:1833777|PMID:19913029|PMID:21094163|PMID:24265693|PMID:24935155|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29068140|PMID:30718709|PMID:30977563|PMID:31054281|PMID:31213501|PMID:31456290|PMID:32581362|PMID:33749171|PMID:33781268|PMID:36460718|PMID:36819107|PMID:8253795 10048488 CV193488 NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) variant HP:0000609 Optic nerve hypoplasia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Optic nerve hypoplasia PMID:25741868|PMID:28492532 10048488 CV193488 NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) variant HP:0012622 Chronic kidney disease IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 10048489 CV193489 NM_001845.6(COL4A1):c.234+8C>T variant HP:0002132 Porencephalic cyst IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Porencephalic cyst PMID:25741868|PMID:26467025|PMID:28492532 10048498 CV193515 NM_002693.3(POLG):c.803G>C (p.Gly268Ala) variant HP:0030051 Tip-toe gait IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Tip-toe gait PMID:14557557|PMID:14635118|PMID:16401742|PMID:16940310|PMID:18546365|PMID:19578034|PMID:21880868|PMID:23921535|PMID:24508722|PMID:25118206|PMID:25462018|PMID:25741868|PMID:26095671|PMID:26357557|PMID:26467025|PMID:27119776|PMID:27987238|PMID:28128857|PMID:28492532|PMID:29474836|PMID:30404819|PMID:30637288|PMID:37091313 10048500 CV193523 NM_003361.4(UMOD):c.840C>T (p.Pro280=) variant HP:0000112 Nephropathy IAGP H RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:26467025|PMID:28492532 10048504 CV193529 NM_003923.3(FOXH1):c.373A>T (p.Thr125Ser) variant HP:0001360 Holoprosencephaly IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Holoprosencephaly PMID:18538293|PMID:25741868|PMID:28492532 10048504 CV193529 NM_003923.3(FOXH1):c.373A>T (p.Thr125Ser) variant HP:0002139 Arrhinencephaly IAGP H RGD:8554872 20230905 ClinVar ClinVar Annotator: match by term: ARHINENCEPHALY PMID:18538293|PMID:25741868|PMID:28492532 10048505 CV193531 NM_003923.3(FOXH1):c.783T>C (p.Pro261=) variant HP:0001360 Holoprosencephaly IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Holoprosencephaly PMID:28492532 10048505 CV193531 NM_003923.3(FOXH1):c.783T>C (p.Pro261=) variant HP:0002139 Arrhinencephaly IAGP H RGD:8554872 20230905 ClinVar ClinVar Annotator: match by term: ARHINENCEPHALY PMID:28492532 10048510 CV193539 NM_004273.5(CHST3):c.417C>T (p.Ala139=) variant HP:0002652 Skeletal dysplasia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal skeletal development PMID:28492532 10048513 CV193556 NM_001005242.3(PKP2):c.368G>A (p.Trp123Ter) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:22035158|PMID:23911551|PMID:25445213|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30847666|PMID:31402444|PMID:31447099|PMID:32372669|PMID:32397162|PMID:32659924|PMID:34469894|PMID:34816084 10048520 CV193579 NM_005802.5(TOPORS):c.814A>G (p.Ile272Val) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10048521 CV193587 NM_005802.5(TOPORS):c.2643C>G (p.His881Gln) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10048525 CV193596 NM_006269.2(RP1):c.616-6T>C variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28041643|PMID:28492532 10048526 CV193597 NM_006445.4(PRPF8):c.101-3C>T variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10048532 CV193617 NM_014140.4(SMARCAL1):c.341G>A (p.Arg114His) variant HP:0000112 Nephropathy IAGP H RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nephropathy PMID:25741868|PMID:28492532 10048538 CV193645 NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly) variant HP:0002121 Generalized non-motor (absence) seizure IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Absence seizure PMID:25741868|PMID:28492532 10048547 CV193672 NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) variant HP:0001363 Craniosynostosis IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Craniosynostosis PMID:20696889|PMID:23329143|PMID:23657145|PMID:25064402|PMID:25383892|PMID:25759380|PMID:28492532 10048549 CV193674 NM_023110.3(FGFR1):c.345C>T (p.Ser115=) variant HP:0001363 Craniosynostosis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Craniosynostosis PMID:26467025|PMID:28492532 10048561 CV193745 NM_153427.3(PITX2):c.46+8C>G variant HP:0000518 Cataract IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Cataract PMID:25741868|PMID:28492532 10048561 CV193745 NM_153427.3(PITX2):c.46+8C>G variant HP:0007676 Hypoplasia of the iris IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Hypoplasia of the iris PMID:25741868|PMID:28492532 10048566 CV193757 NM_173660.5(DOK7):c.220= (p.Leu74=) variant HP:0001989 Fetal akinesia sequence IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia sequence PMID:25741868|PMID:28492532 10048586 CV193834 NM_001297.5(CNGB1):c.3135C>T (p.Asn1045=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10048587 CV193835 NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10048601 CV193875 NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10048611 CV193949 NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=) variant HP:0003006 Neuroblastoma IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:25741868|PMID:28492532 10048622 CV194041 NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) variant HP:0005978 Type II diabetes mellitus IAGP H RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10447255|PMID:11226335|PMID:11999683|PMID:21716120|PMID:22031516|PMID:23275527|PMID:23345197|PMID:25741868|PMID:27065949|PMID:28492532|PMID:30753133|PMID:30873120|PMID:8923011|PMID:9618169|PMID:9648840 10048626 CV194049 NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 10048635 CV194094 NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10729113|PMID:10909849|PMID:20507924|PMID:25425308|PMID:25649381|PMID:25741868|PMID:28492532|PMID:29953849 10048650 CV194161 NM_001458.5(FLNC):c.6005-9T>C variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10048657 CV194190 NM_001458.5(FLNC):c.6309C>T (p.Thr2103=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10048661 CV194205 NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:16909394|PMID:17345604|PMID:20690115|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25525159|PMID:25741868|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:31964843|PMID:35627109 10048661 CV194205 NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16909394|PMID:17345604|PMID:20690115|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25525159|PMID:25741868|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:31964843|PMID:35627109 10048666 CV194218 NM_000540.3(RYR1):c.6498C>T (p.Leu2166=) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:25741868|PMID:28492532 10048667 CV194225 NM_001458.5(FLNC):c.6459C>T (p.Thr2153=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10048675 CV194246 NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:26467025|PMID:28492532 10048682 CV194277 NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=) variant HP:0008020 Cone dystrophy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cone dystrophy progressive PMID:25741868|PMID:28492532 10048684 CV194285 NM_001386140.1(MTTP):c.285G>C (p.Gln95His) variant HP:0008181 Abetalipoproteinemia IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Abetalipoproteinemia PMID:25741868|PMID:28492532 10048686 CV194287 NM_000282.4(PCCA):c.232-1G>A variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:15464417|PMID:16199547|PMID:28492532 10048687 CV194294 NM_000326.5(RLBP1):c.29T>A (p.Met10Lys) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10048687 CV194294 NM_000326.5(RLBP1):c.29T>A (p.Met10Lys) variant HP:0030642 Fundus albipunctatus IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Fundus albipunctatus PMID:28492532 10048691 CV194312 NM_000515.5(GH1):c.406G>A (p.Val136Ile) variant HP:0000824 Decreased response to growth hormone stimulation test IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Growth hormone deficiency PMID:12655557|PMID:16741161|PMID:25741868|PMID:28492532 10048698 CV194335 NM_001012720.2(RGR):c.459C>T (p.Tyr153=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10048698 CV194335 NM_001012720.2(RGR):c.459C>T (p.Tyr153=) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10048705 CV194347 NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18836446|PMID:20333770|PMID:22581970|PMID:25741868|PMID:25753737|PMID:28041643|PMID:28492532|PMID:28704921|PMID:31964843|PMID:33749171|PMID:35754085|PMID:36819107 10048705 CV194347 NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:18836446|PMID:20333770|PMID:22581970|PMID:25741868|PMID:25753737|PMID:28041643|PMID:28492532|PMID:28704921|PMID:31964843|PMID:33749171|PMID:35754085|PMID:36819107 10048706 CV194348 NM_001165963.4(SCN1A):c.602+1G>A variant HP:0000717 Autism IAGP H RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Autism PMID:12566275|PMID:16199547|PMID:17347258|PMID:18930999|PMID:20522430|PMID:22071555|PMID:22409937|PMID:23934111|PMID:25741868|PMID:28148630|PMID:28492532|PMID:29190809|PMID:32581362 10048706 CV194348 NM_001165963.4(SCN1A):c.602+1G>A variant HP:0001250 Seizure IAGP H RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Seizure PMID:12566275|PMID:16199547|PMID:17347258|PMID:18930999|PMID:20522430|PMID:22071555|PMID:22409937|PMID:23934111|PMID:25741868|PMID:28148630|PMID:28492532|PMID:29190809|PMID:32581362 10048706 CV194348 NM_001165963.4(SCN1A):c.602+1G>A variant HP:0001263 Global developmental delay IAGP H RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:12566275|PMID:16199547|PMID:17347258|PMID:18930999|PMID:20522430|PMID:22071555|PMID:22409937|PMID:23934111|PMID:25741868|PMID:28148630|PMID:28492532|PMID:29190809|PMID:32581362 10048706 CV194348 NM_001165963.4(SCN1A):c.602+1G>A variant HP:0002384 Focal impaired awareness seizure IAGP H RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness PMID:12566275|PMID:16199547|PMID:17347258|PMID:18930999|PMID:20522430|PMID:22071555|PMID:22409937|PMID:23934111|PMID:25741868|PMID:28148630|PMID:28492532|PMID:29190809|PMID:32581362 10048711 CV194367 NM_002335.4(LRP5):c.687-8G>A variant HP:0011001 Increased bone mineral density IAGP H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Increased bone mineral density PMID:25741868|PMID:28492532 10048713 CV194371 NM_003000.3(SDHB):c.343C>T (p.Arg115Ter) variant HP:0002666 Pheochromocytoma IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:16258955|PMID:16317055|PMID:16405730|PMID:17200167|PMID:19389109|PMID:19454582|PMID:19802898|PMID:21348866|PMID:24033266|PMID:24523625|PMID:25047027|PMID:25151137|PMID:25683602|PMID:25741868|PMID:25873086|PMID:28374168|PMID:28490599|PMID:28492532|PMID:29386252|PMID:30050099|PMID:30201732|PMID:30352407|PMID:31666924|PMID:32688340 10048713 CV194371 NM_003000.3(SDHB):c.343C>T (p.Arg115Ter) variant HP:0100723 Gastrointestinal stroma tumor IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Gastrointestinal stroma tumor PMID:16258955|PMID:16317055|PMID:16405730|PMID:17200167|PMID:19389109|PMID:19454582|PMID:19802898|PMID:21348866|PMID:24033266|PMID:24523625|PMID:25047027|PMID:25151137|PMID:25683602|PMID:25741868|PMID:25873086|PMID:28374168|PMID:28490599|PMID:28492532|PMID:29386252|PMID:30050099|PMID:30201732|PMID:30352407|PMID:31666924|PMID:32688340 10048723 CV194409 NM_005055.5(RAPSN):c.737C>T (p.Ala246Val) variant HP:0001989 Fetal akinesia sequence IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fetal akinesia sequence PMID:12796535|PMID:16770791|PMID:25741868|PMID:28492532|PMID:31127727|PMID:34565654 10048724 CV194410 NM_005055.5(RAPSN):c.691-11del variant HP:0001989 Fetal akinesia sequence IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fetal akinesia sequence PMID:25741868|PMID:28492532 10048725 CV194412 NM_001377295.2(GNAT2):c.370G>A (p.Val124Met) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:27479814|PMID:28492532 10048727 CV194417 NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) variant HP:0001989 Fetal akinesia sequence IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia sequence PMID:25741868|PMID:26467025|PMID:28492532 10048728 CV194432 NM_006269.2(RP1):c.4555del (p.Arg1519fs) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28418496 10048729 CV194433 NM_006269.2(RP1):c.2700dup (p.Pro901fs) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11527933|PMID:19933189|PMID:25741868|PMID:28492532|PMID:29425069|PMID:30027431|PMID:33681214 10048762 CV194563 NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) variant HP:0003011 Abnormality of the musculature IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Abnormality of the musculature PMID:22336395|PMID:22499103|PMID:23041008|PMID:23670307|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26467025|PMID:27671536|PMID:27854218|PMID:28492532|PMID:32528171|PMID:32925086|PMID:33496727|PMID:36913258 10048765 CV194573 NM_004006.3(DMD):c.5697del (p.Lys1899fs) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:16770791|PMID:19409785|PMID:25007885|PMID:25741868|PMID:28492532|PMID:31727011 10048768 CV194580 NM_014014.5(SNRNP200):c.5664C>T (p.His1888=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10048772 CV194604 NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10048775 CV194608 NM_206933.4(USH2A):c.7595-3C>G variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17405132|PMID:17576681|PMID:20052763|PMID:22135276|PMID:24944099|PMID:25097241|PMID:25649381|PMID:25741868|PMID:26969326|PMID:27208204|PMID:27460420|PMID:28041643|PMID:28492532|PMID:28981474|PMID:31589614|PMID:31816670|PMID:31964843|PMID:32176120|PMID:32581362|PMID:34758253|PMID:34948090|PMID:35266249|PMID:36011334|PMID:36819107|PMID:9536098 10048777 CV194622 NM_001458.5(FLNC):c.7091G>A (p.Arg2364His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25617006|PMID:25741868|PMID:26467025|PMID:27296017|PMID:28356264|PMID:28492532 10048786 CV194657 NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) variant HP:0000939 Osteoporosis IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:18272325|PMID:21594610|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8456808 10048792 CV194671 NM_206933.4(USH2A):c.8682-9A>G variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18273898|PMID:23591405|PMID:25425308|PMID:25741868|PMID:27318125|PMID:28492532|PMID:28894305|PMID:28944237|PMID:30311386|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32531858|PMID:33576794|PMID:34426522|PMID:34781295|PMID:34906470|PMID:35266249|PMID:35836572 10048792 CV194671 NM_206933.4(USH2A):c.8682-9A>G variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:18273898|PMID:23591405|PMID:25425308|PMID:25741868|PMID:27318125|PMID:28492532|PMID:28894305|PMID:28944237|PMID:30311386|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32531858|PMID:33576794|PMID:34426522|PMID:34781295|PMID:34906470|PMID:35266249|PMID:35836572 10048795 CV194681 NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His) variant HP:0002132 Porencephalic cyst IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Porencephalic cyst PMID:18077766|PMID:25741868|PMID:26467025|PMID:28492532 10048812 CV194735 NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10048822 CV194758 NM_025114.4(CEP290):c.6604del (p.Ile2202fs) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:16909394|PMID:17345604|PMID:20690115|PMID:25741868|PMID:28492532|PMID:33546218|PMID:34196655|PMID:36460718|PMID:36537646 10048822 CV194758 NM_025114.4(CEP290):c.6604del (p.Ile2202fs) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16909394|PMID:17345604|PMID:20690115|PMID:25741868|PMID:28492532|PMID:33546218|PMID:34196655|PMID:36460718|PMID:36537646 10048828 CV194786 NM_000071.3(CBS):c.374G>A (p.Arg125Gln) variant HP:0002156 Homocystinuria IAGP H RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Homocystinuria PMID:10338090|PMID:12124992|PMID:14722927|PMID:18423051|PMID:20308073|PMID:20490928|PMID:20506325|PMID:21520339|PMID:22612060|PMID:25331909|PMID:25741868|PMID:28492532|PMID:29508359|PMID:7762555|PMID:7849717|PMID:9587029 10048836 CV194803 NM_000182.5(HADHA):c.403A>G (p.Lys135Glu) variant HP:0100950 Decreased 3-hydroxyacyl-CoA dehydrogenase level IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 10048839 CV194810 NM_000256.3(MYBPC3):c.530G>C (p.Arg177Pro) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10048846 CV194831 NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24416769|PMID:25741868|PMID:27884173|PMID:28492532|PMID:30718709|PMID:31429209|PMID:32579692 10048846 CV194831 NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24416769|PMID:25741868|PMID:27884173|PMID:28492532|PMID:30718709|PMID:31429209|PMID:32579692 10048860 CV194893 NM_001849.4(COL6A2):c.801+1G>A variant HP:0003011 Abnormality of the musculature IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the musculature PMID:16199547|PMID:18366090|PMID:20976770|PMID:21280092|PMID:25741868|PMID:28492532|PMID:29406609 10048880 CV194959 NM_014140.4(SMARCAL1):c.960C>T (p.Ala320=) variant HP:0000112 Nephropathy IAGP H RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nephropathy PMID:25741868|PMID:28492532 10048881 CV194960 NM_014140.4(SMARCAL1):c.945C>G (p.Ser315Arg) variant HP:0000097 Focal segmental glomerulosclerosis IAGP H RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:25741868|PMID:28492532 10048886 CV194987 NM_015139.3(SLC35D1):c.393-3del variant HP:0031026 Snail-like ilia IAGP H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Schneckenbecken dysplasia PMID:25741868|PMID:28492532 10048889 CV194990 NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) variant HP:0002671 Basal cell carcinoma IAGP H RGD:405850206 20240719 GWAS_CATALOG Based on the EFO term ID PMID:31174203 10048889 CV194990 NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) variant HP:0006739 Squamous cell carcinoma of the skin IAGP H RGD:405850206 20240719 GWAS_CATALOG Based on the EFO term ID PMID:38182794 10048889 CV194990 NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) variant HP:0008069 Neoplasm of the skin IAGP H RGD:405850206 20240719 GWAS_CATALOG Based on the EFO term ID PMID:34594039 10048889 CV194990 NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) variant HP:0012056 Cutaneous melanoma IAGP H RGD:405850206 20240719 GWAS_CATALOG Based on the EFO term ID PMID:32341527 10048893 CV195007 NM_001008212.2(OPTN):c.553-5C>T variant HP:0012108 Open angle glaucoma IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:25741868|PMID:26467025|PMID:28492532 10048900 CV195031 NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr) variant HP:0000113 Polycystic kidney dysplasia IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:28492532 10048903 CV195045 NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) variant HP:0000518 Cataract IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Cataract PMID:25741868|PMID:28492532 10048903 CV195045 NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) variant HP:0007676 Hypoplasia of the iris IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Hypoplasia of the iris PMID:25741868|PMID:28492532 10048907 CV195052 NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) variant HP:0001250 Seizure IAGP H RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Seizure PMID:22275249|PMID:22926866|PMID:23692823|PMID:24107868|PMID:24318194|PMID:25741868|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28492532|PMID:29056246|PMID:31552204 10048908 CV195055 NM_181507.2(HPS5):c.345G>A (p.Met115Ile) variant HP:0001873 Thrombocytopenia IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:24033266|PMID:25741868|PMID:28492532 10048908 CV195055 NM_181507.2(HPS5):c.345G>A (p.Met115Ile) variant HP:0001892 Abnormal bleeding IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:24033266|PMID:25741868|PMID:28492532 10048910 CV195057 NM_182894.3(VSX2):c.831G>A (p.Leu277=) variant HP:0000568 Microphthalmia IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Microphthalmos PMID:25741868|PMID:28492532 10048923 CV195093 NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20507924|PMID:21151602|PMID:22004887|PMID:22135276|PMID:22334370|PMID:24033266|PMID:25097241|PMID:25472526|PMID:25649381|PMID:25741868|PMID:25999674|PMID:26667666|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29953849|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32176120|PMID:32326409|PMID:32531858|PMID:32581362|PMID:33258288|PMID:33576794|PMID:33737949|PMID:33749171|PMID:34758253|PMID:34906470|PMID:35266249|PMID:36011334|PMID:36672815|PMID:36819107|PMID:36909829 10048923 CV195093 NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20507924|PMID:21151602|PMID:22004887|PMID:22135276|PMID:22334370|PMID:24033266|PMID:25097241|PMID:25472526|PMID:25649381|PMID:25741868|PMID:25999674|PMID:26667666|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29953849|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32176120|PMID:32326409|PMID:32531858|PMID:32581362|PMID:33258288|PMID:33576794|PMID:33737949|PMID:33749171|PMID:34758253|PMID:34906470|PMID:35266249|PMID:36011334|PMID:36672815|PMID:36819107|PMID:36909829 10048951 CV195214 NM_000169.3(GLA):c.982G>C (p.Gly328Arg) variant HP:0001071 Angiokeratoma corporis diffusum IAGP H RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum PMID:25741868|PMID:26415523 10048956 CV195230 NM_000306.4(POU1F1):c.666-5G>A variant HP:0002145 Frontotemporal dementia IAGP H RGD:8554872 20240326 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868|PMID:26467025|PMID:28492532 10048960 CV195238 NM_000404.4(GLB1):c.602G>A (p.Arg201His) variant HP:0008166 Decreased beta-galactosidase activity IAGP H RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Beta galactosidase 1 deficiency PMID:10737981|PMID:11504597|PMID:11511921|PMID:16314480|PMID:16538002|PMID:16617000|PMID:16941474|PMID:17309651|PMID:17664528|PMID:19472408|PMID:20175788|PMID:21520340|PMID:22675082|PMID:23430499|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9203065 10048987 CV195318 NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) variant HP:0000486 Strabismus IAGP H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Strabismus PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 10048987 CV195318 NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) variant HP:0000666 Horizontal nystagmus IAGP H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Horizontal nystagmus PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 10048987 CV195318 NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) variant HP:0000750 Delayed speech and language development IAGP H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Delayed speech and language development PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 10048987 CV195318 NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 10048987 CV195318 NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) variant HP:0001263 Global developmental delay IAGP H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 10048987 CV195318 NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) variant HP:0001290 Generalized hypotonia IAGP H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 10048987 CV195318 NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) variant HP:0008936 Axial hypotonia IAGP H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Axial hypotonia PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 10048987 CV195318 NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) variant HP:0012469 Infantile spasms IAGP H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Infantile spasms PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 10048992 CV195331 NM_004385.5(VCAN):c.899C>T (p.Ser300Leu) variant HP:0007773 Vitreoretinopathy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Vitreoretinal abnormality PMID:25741868|PMID:28492532 10049000 CV195363 NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln) variant HP:0000097 Focal segmental glomerulosclerosis IAGP H RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:25741868|PMID:28492532 10049002 CV195377 NM_015294.6(TRIM37):c.398C>T (p.Ala133Val) variant HP:0000716 Depression IAGP H RGD:405850206 20240719 GWAS_CATALOG Based on the EFO term ID PMID:34782712 10049004 CV195380 NM_130837.3(OPA1):c.800_801del (p.Lys267fs) variant HP:0000648 Optic atrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:11440988|PMID:11440989|PMID:20157015|PMID:20952381|PMID:23384603|PMID:25012220|PMID:25741868|PMID:26467025|PMID:28005958|PMID:28492532|PMID:33084218|PMID:34242285 10049023 CV195456 NM_203288.2(RP9):c.664del (p.Ter222AspextTer?) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12032732|PMID:23591405|PMID:25741868|PMID:28492532|PMID:3181667 10049032 CV195490 NM_000540.3(RYR1):c.9414G>A (p.Pro3138=) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:25741868|PMID:28492532 10049038 CV195505 NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18273898|PMID:20440071|PMID:22135276|PMID:24033266|PMID:24944099|PMID:25521520|PMID:25741868|PMID:26416264|PMID:26927203|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28944237|PMID:31964843|PMID:32581362|PMID:33851411|PMID:34948090|PMID:35266249|PMID:36011334|PMID:36819107 10049038 CV195505 NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:18273898|PMID:20440071|PMID:22135276|PMID:24033266|PMID:24944099|PMID:25521520|PMID:25741868|PMID:26416264|PMID:26927203|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28944237|PMID:31964843|PMID:32581362|PMID:33851411|PMID:34948090|PMID:35266249|PMID:36011334|PMID:36819107 10049040 CV195509 NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) variant HP:0000776 Congenital diaphragmatic hernia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:25741868|PMID:28492532 10049049 CV195551 NM_001379270.1(CNGA1):c.300A>G (p.Glu100=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10049050 CV195552 NM_000143.4(FH):c.912_918del (p.Phe305fs) variant HP:0007437 Multiple cutaneous leiomyomas IAGP H RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Multiple cutaneous leiomyomas PMID:11865300|PMID:12772087|PMID:21398687|PMID:25741868|PMID:26467025|PMID:28492532 10049062 CV195589 NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:12007220|PMID:15464417|PMID:15949719|PMID:22033733|PMID:25047749|PMID:25741868|PMID:27089410|PMID:27776753|PMID:28492532|PMID:30274917|PMID:31249402|PMID:31916709|PMID:8023851 10049066 CV195597 NM_000795.4(DRD2):c.957C>T (p.Pro319=) variant HP:0001332 Dystonia IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Dystonia PMID:25741868|PMID:28492532 10049071 CV195605 NM_001023570.4(IQCB1):c.574C>T (p.Leu192=) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10049078 CV195631 NM_001814.6(CTSC):c.1357A>G (p.Ile453Val) variant HP:0000166 Severe periodontitis IAGP H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Aggressive Periodontitis PMID:14974080|PMID:18809751|PMID:24033266|PMID:25741868|PMID:28492532 10049090 CV195671 NM_004385.5(VCAN):c.3713G>C (p.Arg1238Thr) variant HP:0007773 Vitreoretinopathy IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Vitreoretinal degeneration PMID:25741868|PMID:28492532 10049091 CV195679 NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) variant HP:0000097 Focal segmental glomerulosclerosis IAGP H RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:11317351|PMID:11854170|PMID:17371932|PMID:18443213|PMID:19808243|PMID:19812541|PMID:20507940|PMID:20981092|PMID:21228398|PMID:22565185|PMID:23349334|PMID:23595123|PMID:24371179|PMID:25741868|PMID:25804400|PMID:26346198|PMID:26467025|PMID:26560236|PMID:27019444|PMID:27535533|PMID:27884173|PMID:28492532 10049091 CV195679 NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) variant HP:0008677 Congenital nephrotic syndrome IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL PMID:11317351|PMID:11854170|PMID:17371932|PMID:18443213|PMID:19808243|PMID:19812541|PMID:20507940|PMID:20981092|PMID:21228398|PMID:22565185|PMID:23349334|PMID:23595123|PMID:24371179|PMID:25741868|PMID:25804400|PMID:26346198|PMID:26467025|PMID:26560236|PMID:27019444|PMID:27535533|PMID:27884173|PMID:28492532 10049093 CV195700 NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10767344|PMID:14974078|PMID:16186124|PMID:25741868|PMID:27229527|PMID:27535533|PMID:28492532|PMID:34426522 10049097 CV195718 NM_014014.5(SNRNP200):c.732C>T (p.Leu244=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10049104 CV195743 NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) variant HP:0000822 Hypertension IAGP H RGD:405850206 20240719 GWAS_CATALOG Based on the EFO term ID PMID:33230300 10049108 CV195752 NM_024426.6(WT1):c.1122A>G (p.Arg374=) variant HP:0002667 Nephroblastoma IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Wilms tumor PMID:25741868|PMID:26467025|PMID:28492532 10049110 CV195757 NM_031433.4(MFRP):c.773-9C>T variant HP:0000546 Retinal degeneration IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:28492532 10049118 CV195787 NM_173660.5(DOK7):c.957del (p.Lys320fs) variant HP:0001989 Fetal akinesia sequence IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fetal akinesia sequence PMID:10222457|PMID:1483054|PMID:20012313|PMID:20458068|PMID:22884442|PMID:28024842|PMID:28492532|PMID:28716243 10049120 CV195792 NM_198859.4(PRICKLE2):c.788-6T>C variant HP:0002123 Generalized myoclonic seizure IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:25741868|PMID:28492532 10049128 CV195829 NM_001035.3(RYR2):c.10935+18C>T variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10049142 CV195864 NM_001128178.3(NPHP1):c.771+59G>A variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10049145 CV195869 NM_000282.4(PCCA):c.627A>G (p.Ala209=) variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:24033266|PMID:25741868|PMID:28492532 10049153 CV195887 NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys) variant HP:0008166 Decreased beta-galactosidase activity IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Beta galactosidase 1 deficiency PMID:11511921|PMID:19472408|PMID:21520340|PMID:28492532 10049162 CV195916 NM_000157.4(GBA1):c.762-18T>A variant HP:0100315 Lewy bodies IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lewy Body Disease PMID:25741868 10049163 CV195917 NM_000157.4(GBA1):c.896T>C (p.Ile299Thr) variant HP:0100315 Lewy bodies IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lewy Body Disease PMID:15967693|PMID:25741868|PMID:29423829|PMID:29656334 10049171 CV195957 NM_004385.5(VCAN):c.6723A>G (p.Arg2241=) variant HP:0007773 Vitreoretinopathy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Vitreoretinal abnormality PMID:25741868|PMID:28492532 10049172 CV195958 NM_004385.5(VCAN):c.6902T>A (p.Phe2301Tyr) variant HP:0007773 Vitreoretinopathy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Vitreoretinal abnormality PMID:25741868|PMID:28492532 10049173 CV195959 NM_004385.5(VCAN):c.8622G>A (p.Ala2874=) variant HP:0007773 Vitreoretinopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Vitreoretinal abnormality PMID:25741868|PMID:28492532 10049174 CV195960 NM_004385.5(VCAN):c.9104C>T (p.Ala3035Val) variant HP:0007773 Vitreoretinopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Vitreoretinal abnormality PMID:25741868|PMID:28492532 10049175 CV195962 NM_004385.5(VCAN):c.8809G>T (p.Asp2937Tyr) variant HP:0007773 Vitreoretinopathy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Vitreoretinal abnormality PMID:25741868|PMID:28492532 10049176 CV195963 NM_004385.5(VCAN):c.4323G>A (p.Gln1441=) variant HP:0007773 Vitreoretinopathy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Vitreoretinal abnormality PMID:25741868|PMID:28492532 10049186 CV195995 NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11244483|PMID:12754709|PMID:15277431|PMID:17568405|PMID:19344068|PMID:21446023|PMID:22226368|PMID:23596069|PMID:24033266|PMID:24890733|PMID:25133958|PMID:25741868|PMID:26435059|PMID:27395765|PMID:28432734|PMID:28492532|PMID:29207974|PMID:30014265|PMID:30245029|PMID:30957632|PMID:31264968|PMID:31567480|PMID:31980526|PMID:33046911|PMID:33763535|PMID:34404380|PMID:35018440|PMID:36098976|PMID:36208030 10049186 CV195995 NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) variant HP:0000648 Optic atrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:11244483|PMID:12754709|PMID:15277431|PMID:17568405|PMID:19344068|PMID:21446023|PMID:22226368|PMID:23596069|PMID:24033266|PMID:24890733|PMID:25133958|PMID:25741868|PMID:26435059|PMID:27395765|PMID:28432734|PMID:28492532|PMID:29207974|PMID:30014265|PMID:30245029|PMID:30957632|PMID:31264968|PMID:31567480|PMID:31980526|PMID:33046911|PMID:33763535|PMID:34404380|PMID:35018440|PMID:36098976|PMID:36208030 10049186 CV195995 NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) variant HP:0000819 Diabetes mellitus IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Diabetes mellitus PMID:11244483|PMID:12754709|PMID:15277431|PMID:17568405|PMID:19344068|PMID:21446023|PMID:22226368|PMID:23596069|PMID:24033266|PMID:24890733|PMID:25133958|PMID:25741868|PMID:26435059|PMID:27395765|PMID:28432734|PMID:28492532|PMID:29207974|PMID:30014265|PMID:30245029|PMID:30957632|PMID:31264968|PMID:31567480|PMID:31980526|PMID:33046911|PMID:33763535|PMID:34404380|PMID:35018440|PMID:36098976|PMID:36208030 10049186 CV195995 NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) variant HP:0005978 Type II diabetes mellitus IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Type II diabetes mellitus PMID:11244483|PMID:12754709|PMID:15277431|PMID:17568405|PMID:19344068|PMID:21446023|PMID:22226368|PMID:23596069|PMID:24033266|PMID:24890733|PMID:25133958|PMID:25741868|PMID:26435059|PMID:27395765|PMID:28432734|PMID:28492532|PMID:29207974|PMID:30014265|PMID:30245029|PMID:30957632|PMID:31264968|PMID:31567480|PMID:31980526|PMID:33046911|PMID:33763535|PMID:34404380|PMID:35018440|PMID:36098976|PMID:36208030 10049207 CV196101 NM_000540.3(RYR1):c.11360-9T>A variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:25741868|PMID:28492532 10049218 CV196148 NM_000071.3(CBS):c.785C>T (p.Thr262Met) variant HP:0002156 Homocystinuria IAGP H RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Homocystinuria PMID:10338090|PMID:14722927|PMID:17540596|PMID:20066033|PMID:22267502|PMID:25087612|PMID:25741868|PMID:28492532|PMID:28835823|PMID:32245022|PMID:33057012|PMID:9361025|PMID:9889017 10049220 CV196155 NM_000180.4(GUCY2D):c.1773del (p.Asn591fs) variant HP:0008020 Cone dystrophy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy progressive PMID:10951519|PMID:11328726|PMID:25741868|PMID:28492532 10049224 CV196163 NM_001128178.3(NPHP1):c.772-17G>A variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10049235 CV38432 NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) variant HP:0000726 Dementia IAGP H RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Dementia PMID:10079102|PMID:11903352|PMID:12595585|PMID:12791040|PMID:15146461|PMID:15967693|PMID:16293621|PMID:18160183|PMID:1864608|PMID:20301446|PMID:20947659|PMID:21831682|PMID:22227325|PMID:22451204|PMID:22623374|PMID:23225227|PMID:24022302|PMID:24033266|PMID:25741868|PMID:26000814|PMID:26117366|PMID:26296077|PMID:27153395|PMID:27312774|PMID:28492532|PMID:29980418|PMID:31010158 10049235 CV38432 NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) variant HP:0000822 Hypertension IAGP H RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Hypertension PMID:10079102|PMID:11903352|PMID:12595585|PMID:12791040|PMID:15146461|PMID:15967693|PMID:16293621|PMID:18160183|PMID:1864608|PMID:20301446|PMID:20947659|PMID:21831682|PMID:22227325|PMID:22451204|PMID:22623374|PMID:23225227|PMID:24022302|PMID:24033266|PMID:25741868|PMID:26000814|PMID:26117366|PMID:26296077|PMID:27153395|PMID:27312774|PMID:28492532|PMID:29980418|PMID:31010158 10049235 CV38432 NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) variant HP:0001300 Parkinsonism IAGP H RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:10079102|PMID:11903352|PMID:12595585|PMID:12791040|PMID:15146461|PMID:15967693|PMID:16293621|PMID:18160183|PMID:1864608|PMID:20301446|PMID:20947659|PMID:21831682|PMID:22227325|PMID:22451204|PMID:22623374|PMID:23225227|PMID:24022302|PMID:24033266|PMID:25741868|PMID:26000814|PMID:26117366|PMID:26296077|PMID:27153395|PMID:27312774|PMID:28492532|PMID:29980418|PMID:31010158 10049235 CV38432 NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) variant HP:0001337 Tremor IAGP H RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: tremors PMID:10079102|PMID:11903352|PMID:12595585|PMID:12791040|PMID:15146461|PMID:15967693|PMID:16293621|PMID:18160183|PMID:1864608|PMID:20301446|PMID:20947659|PMID:21831682|PMID:22227325|PMID:22451204|PMID:22623374|PMID:23225227|PMID:24022302|PMID:24033266|PMID:25741868|PMID:26000814|PMID:26117366|PMID:26296077|PMID:27153395|PMID:27312774|PMID:28492532|PMID:29980418|PMID:31010158 10049235 CV38432 NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) variant HP:0002063 Rigidity IAGP H RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Rigidity PMID:10079102|PMID:11903352|PMID:12595585|PMID:12791040|PMID:15146461|PMID:15967693|PMID:16293621|PMID:18160183|PMID:1864608|PMID:20301446|PMID:20947659|PMID:21831682|PMID:22227325|PMID:22451204|PMID:22623374|PMID:23225227|PMID:24022302|PMID:24033266|PMID:25741868|PMID:26000814|PMID:26117366|PMID:26296077|PMID:27153395|PMID:27312774|PMID:28492532|PMID:29980418|PMID:31010158 10049235 CV38432 NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) variant HP:0002167 Abnormal speech pattern IAGP H RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Abnormality of speech or vocalization PMID:10079102|PMID:11903352|PMID:12595585|PMID:12791040|PMID:15146461|PMID:15967693|PMID:16293621|PMID:18160183|PMID:1864608|PMID:20301446|PMID:20947659|PMID:21831682|PMID:22227325|PMID:22451204|PMID:22623374|PMID:23225227|PMID:24022302|PMID:24033266|PMID:25741868|PMID:26000814|PMID:26117366|PMID:26296077|PMID:27153395|PMID:27312774|PMID:28492532|PMID:29980418|PMID:31010158 10049235 CV38432 NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) variant HP:0002396 Cogwheel rigidity IAGP H RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Cogwheel rigidity PMID:10079102|PMID:11903352|PMID:12595585|PMID:12791040|PMID:15146461|PMID:15967693|PMID:16293621|PMID:18160183|PMID:1864608|PMID:20301446|PMID:20947659|PMID:21831682|PMID:22227325|PMID:22451204|PMID:22623374|PMID:23225227|PMID:24022302|PMID:24033266|PMID:25741868|PMID:26000814|PMID:26117366|PMID:26296077|PMID:27153395|PMID:27312774|PMID:28492532|PMID:29980418|PMID:31010158 10049235 CV38432 NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) variant HP:0003077 Hyperlipidemia IAGP H RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Hyperlipidemia PMID:10079102|PMID:11903352|PMID:12595585|PMID:12791040|PMID:15146461|PMID:15967693|PMID:16293621|PMID:18160183|PMID:1864608|PMID:20301446|PMID:20947659|PMID:21831682|PMID:22227325|PMID:22451204|PMID:22623374|PMID:23225227|PMID:24022302|PMID:24033266|PMID:25741868|PMID:26000814|PMID:26117366|PMID:26296077|PMID:27153395|PMID:27312774|PMID:28492532|PMID:29980418|PMID:31010158 10049235 CV38432 NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) variant HP:0007340 Lower limb muscle weakness IAGP H RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Lower limb muscle weakness PMID:10079102|PMID:11903352|PMID:12595585|PMID:12791040|PMID:15146461|PMID:15967693|PMID:16293621|PMID:18160183|PMID:1864608|PMID:20301446|PMID:20947659|PMID:21831682|PMID:22227325|PMID:22451204|PMID:22623374|PMID:23225227|PMID:24022302|PMID:24033266|PMID:25741868|PMID:26000814|PMID:26117366|PMID:26296077|PMID:27153395|PMID:27312774|PMID:28492532|PMID:29980418|PMID:31010158 10049235 CV38432 NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) variant HP:0100315 Lewy bodies IAGP H RGD:405850206 20240719 GWAS_CATALOG Based on the EFO term ID PMID:33589841 10049239 CV196219 NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532 10049244 CV196236 NM_002335.4(LRP5):c.1968C>T (p.His656=) variant HP:0000939 Osteoporosis IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:25741868|PMID:28492532 10049245 CV196239 NM_002485.5(NBN):c.1124+18C>T variant HP:0006721 Acute lymphoblastic leukemia IAGP H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Acute lymphocytic leukemia PMID:25741868|PMID:28492532 10049267 CV196319 NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter) variant HP:0000729 Autistic behavior IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868|PMID:30504930 10049269 CV196332 NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys) variant HP:0040144 L-2-hydroxyglutaric aciduria IAGP H RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria PMID:20052767|PMID:25741868|PMID:26467025|PMID:28492532 10049275 CV196362 NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:23919265|PMID:25741868|PMID:25960145|PMID:28492532|PMID:28818389|PMID:30155738|PMID:30611313 10049277 CV196365 NM_182961.4(SYNE1):c.17203-7_17203-6del variant HP:0001251 Ataxia IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:28492532 10049285 CV196400 NM_001267550.2(TTN):c.28547G>A (p.Arg9516His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10049286 CV196401 NM_000540.3(RYR1):c.14130-8C>G variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:25741868|PMID:28492532 10049308 CV190210 NM_000100.4(CSTB):c.29A>C (p.Gln10Pro) variant HP:0002123 Generalized myoclonic seizure IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:26467025|PMID:28492532 10049315 CV190221 NM_000169.3(GLA):c.124A>C (p.Met42Leu) variant HP:0001071 Angiokeratoma corporis diffusum IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum PMID:12175777|PMID:15492942|PMID:15712228|PMID:18205205|PMID:23935525|PMID:25741868|PMID:26415523|PMID:27560961|PMID:27657681|PMID:28492532|PMID:31036492|PMID:32802993|PMID:8875188 10049317 CV190223 NM_000169.3(GLA):c.194+17A>G variant HP:0001071 Angiokeratoma corporis diffusum IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Fabry syndrome PMID:25741868|PMID:28492532 10049321 CV190232 NM_000261.2(MYOC):c.366C>T (p.Gly122=) variant HP:0001087 Developmental glaucoma IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Developmental glaucoma PMID:12868033|PMID:14627955|PMID:15851979|PMID:25741868|PMID:28492532 10049326 CV190238 NM_000283.4(PDE6B):c.299G>A (p.Arg100His) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22334370|PMID:24033266|PMID:25472526|PMID:25741868|PMID:26667666|PMID:28492532|PMID:28981474|PMID:30609409|PMID:30998820|PMID:31964843|PMID:32531858|PMID:34906470 10049326 CV190238 NM_000283.4(PDE6B):c.299G>A (p.Arg100His) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:22334370|PMID:24033266|PMID:25472526|PMID:25741868|PMID:26667666|PMID:28492532|PMID:28981474|PMID:30609409|PMID:30998820|PMID:31964843|PMID:32531858|PMID:34906470 10049333 CV190250 NM_000327.4(ROM1):c.47G>A (p.Arg16His) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532|PMID:9331261 10049333 CV190250 NM_000327.4(ROM1):c.47G>A (p.Arg16His) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532|PMID:9331261 10049334 CV190251 NM_000327.4(ROM1):c.81G>T (p.Leu27=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532|PMID:9331261 10049336 CV190253 NM_000327.4(ROM1):c.323C>T (p.Thr108Met) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24265693|PMID:28492532|PMID:8595413|PMID:9187681 10049339 CV190259 NM_001278116.2(L1CAM):c.36C>A (p.Leu12=) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:28492532 10049343 CV190264 NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10393062|PMID:23105016|PMID:25741868|PMID:25775262|PMID:26868535|PMID:27917291|PMID:28492532|PMID:30998820|PMID:31429209|PMID:31456290|PMID:31964843|PMID:32037395|PMID:32531858|PMID:33576794|PMID:34057927|PMID:34426522|PMID:35533076|PMID:36140798|PMID:36460718|PMID:36819107 10049343 CV190264 NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10393062|PMID:23105016|PMID:25741868|PMID:25775262|PMID:26868535|PMID:27917291|PMID:28492532|PMID:30998820|PMID:31429209|PMID:31456290|PMID:31964843|PMID:32037395|PMID:32531858|PMID:33576794|PMID:34057927|PMID:34426522|PMID:35533076|PMID:36140798|PMID:36460718|PMID:36819107 10049349 CV190277 NM_000539.3(RHO):c.360C>T (p.Gly120=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10049354 CV190285 NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) variant HP:0002197 Generalized-onset seizure IAGP H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Generalised epilepsy PMID:25741868|PMID:26467025|PMID:28492532 10049356 CV190287 NM_000726.5(CACNB4):c.36G>A (p.Ala12=) variant HP:0002197 Generalized-onset seizure IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Generalised epilepsy PMID:28492532 10049362 CV190299 NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10049363 CV190300 NM_001029883.3(PCARE):c.3059A>G (p.Gln1020Arg) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10049364 CV190301 NM_001029883.3(PCARE):c.537T>C (p.Pro179=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10049367 CV190309 NM_001029883.3(PCARE):c.3177T>C (p.Pro1059=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 10049370 CV190316 NM_012418.4(FSCN2):c.381G>A (p.Pro127=) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10049383 CV190332 NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=) variant HP:0030051 Tip-toe gait IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Tip-toe gait PMID:28492532|PMID:37091313 10049409 CV190381 NM_001845.6(COL4A1):c.19G>C (p.Val7Leu) variant HP:0002132 Porencephalic cyst IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Porencephalic cyst PMID:25741868|PMID:26467025|PMID:28492532 10049410 CV190384 NM_001927.4(DES):c.216C>A (p.Ser72Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532|PMID:30615648|PMID:30764827|PMID:30847666|PMID:31953240 10049422 CV190403 NM_002900.3(RBP3):c.2650G>A (p.Val884Met) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:19074801|PMID:24963161|PMID:25741868|PMID:27829784|PMID:28492532 10049422 CV190403 NM_002900.3(RBP3):c.2650G>A (p.Val884Met) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:19074801|PMID:24963161|PMID:25741868|PMID:27829784|PMID:28492532 10049423 CV190404 NM_002900.3(RBP3):c.837G>A (p.Thr279=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10049423 CV190404 NM_002900.3(RBP3):c.837G>A (p.Thr279=) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10049425 CV190406 NM_002900.3(RBP3):c.1514A>T (p.His505Leu) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:19074801|PMID:28492532 10049426 CV190407 NM_002900.3(RBP3):c.1093G>A (p.Glu365Lys) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 10049427 CV190408 NM_002900.3(RBP3):c.2168C>T (p.Pro723Leu) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:19074801|PMID:28492532 10049428 CV190409 NM_002900.3(RBP3):c.973G>A (p.Ala325Thr) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:19074801|PMID:25741868|PMID:28492532 10049436 CV190423 NM_003839.4(TNFRSF11A):c.-9T>C variant HP:0011002 Osteopetrosis IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Osteopetrosis PMID:24033266|PMID:25741868 10049436 CV190423 NM_003839.4(TNFRSF11A):c.-9T>C variant HP:0034159 Paget disease of bone IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Paget disease of bone PMID:24033266|PMID:25741868 10049439 CV190428 NM_004006.3(DMD):c.29G>C (p.Cys10Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10049446 CV190439 NM_004287.5(GOSR2):c.-12G>C variant HP:0002123 Generalized myoclonic seizure IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:25741868 10049447 CV190440 NM_004287.5(GOSR2):c.29+3G>A variant HP:0002123 Generalized myoclonic seizure IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:17576681|PMID:28492532|PMID:9536098 10049479 CV190490 NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) variant HP:0002123 Generalized myoclonic seizure IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:25741868|PMID:28492532 10049567 CV190617 NM_024426.6(WT1):c.123G>C (p.Pro41=) variant HP:0002667 Nephroblastoma IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Wilms tumor PMID:25741868|PMID:28492532|PMID:38054408 10049568 CV190618 NM_024426.6(WT1):c.345C>T (p.Pro115=) variant HP:0002667 Nephroblastoma IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Wilms tumor PMID:25741868|PMID:26467025|PMID:28492532 10049576 CV190629 NM_001201543.2(FAM161A):c.176G>A (p.Gly59Glu) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 10049577 CV190630 NM_001201543.2(FAM161A):c.165T>G (p.Ala55=) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10049584 CV190638 NM_033100.4(CDHR1):c.1A>G (p.Met1Val) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:26306921|PMID:28492532|PMID:31816670|PMID:31964843|PMID:32037395|PMID:32681094|PMID:34906470 10049584 CV190638 NM_033100.4(CDHR1):c.1A>G (p.Met1Val) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26306921|PMID:28492532|PMID:31816670|PMID:31964843|PMID:32037395|PMID:32681094|PMID:34906470 10049586 CV190640 NM_033337.3(CAV3):c.-2C>T variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10049594 CV190649 NM_133497.4(KCNV2):c.48G>C (p.Trp16Cys) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10049594 CV190649 NM_133497.4(KCNV2):c.48G>C (p.Trp16Cys) variant HP:0000648 Optic atrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:28492532 10049607 CV190668 NM_153240.5(NPHP3):c.105G>A (p.Lys35=) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10049607 CV190668 NM_153240.5(NPHP3):c.105G>A (p.Lys35=) variant HP:0000112 Nephropathy IAGP H RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nephropathy PMID:25741868|PMID:28492532 10049612 CV190674 NM_182894.3(VSX2):c.336G>A (p.Ser112=) variant HP:0000568 Microphthalmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Decreased size of globe of eye PMID:28492532 10049619 CV190683 NM_201548.5(CERKL):c.27G>A (p.Arg9=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10049620 CV190684 NM_201548.5(CERKL):c.66C>G (p.Pro22=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10049621 CV190685 NM_203288.2(RP9):c.34G>A (p.Ala12Thr) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10049644 CV190731 NM_001128178.3(NPHP1):c.941C>G (p.Ala314Gly) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10049645 CV190732 NM_001128178.3(NPHP1):c.867A>G (p.Gln289=) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:28492532 10049646 CV190733 NM_001128178.3(NPHP1):c.912A>G (p.Gln304=) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10049652 CV190743 NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:21911583|PMID:25741868|PMID:26720470|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29555955|PMID:30834176|PMID:31964843|PMID:32307445 10049656 CV190748 NM_000431.4(MVK):c.924C>T (p.Leu308=) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:18414213|PMID:25741868|PMID:28492532 10049674 CV190775 NM_001023570.4(IQCB1):c.877-10G>A variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10049689 CV190794 NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10049691 CV190797 NM_001849.4(COL6A2):c.988G>A (p.Asp330Asn) variant HP:0030051 Tip-toe gait IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Tip-toe gait PMID:25741868|PMID:28492532 10049694 CV190804 NM_002335.4(LRP5):c.2193C>T (p.Asn731=) variant HP:0000939 Osteoporosis IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:25741868|PMID:26467025|PMID:28492532 10049695 CV190805 NM_002335.4(LRP5):c.2236C>T (p.Arg746Trp) variant HP:0000939 Osteoporosis IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:25741868|PMID:28492532|PMID:28494495|PMID:30452590 10049721 CV190849 NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) variant HP:0100753 Schizophrenia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:18523009|PMID:25741868|PMID:28492532 10049735 CV190869 NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:18414213|PMID:22287014|PMID:25741868|PMID:26467025|PMID:27980752|PMID:28492532|PMID:34600502 10049736 CV190870 NM_014363.6(SACS):c.13717A>C (p.Asn4573His) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:19779133|PMID:22287014|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28832565|PMID:31519934|PMID:36233161 10049737 CV190871 NM_014363.6(SACS):c.8133G>A (p.Ser2711=) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:28492532 10049738 CV190872 NM_014363.6(SACS):c.2643G>C (p.Glu881Asp) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:28492532 10049739 CV190873 NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 10049740 CV190875 NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 10049743 CV190880 NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) variant HP:0000648 Optic atrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:28492532|PMID:32483926 10049751 CV190889 NM_018100.4(EFHC1):c.1675T>C (p.Leu559=) variant HP:0002121 Generalized non-motor (absence) seizure IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Absence seizure PMID:28492532 10049779 CV190935 NM_000540.3(RYR1):c.14717C>G (p.Ala4906Gly) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:11741831|PMID:12642598|PMID:23558838|PMID:25741868|PMID:28492532|PMID:30611313 10049797 CV190956 NM_000071.3(CBS):c.992C>T (p.Ala331Val) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:22267502|PMID:25741868|PMID:28492532|PMID:33057012|PMID:8528202|PMID:9156316 10049802 CV190964 NM_000218.3(KCNQ1):c.1394-6C>T variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10049803 CV190965 NM_000238.4(KCNH2):c.2659C>T (p.Arg887Cys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10049803 CV190965 NM_000238.4(KCNH2):c.2659C>T (p.Arg887Cys) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10049804 CV190967 NM_001128178.3(NPHP1):c.986T>C (p.Ile329Thr) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10049811 CV190975 NM_001278116.2(L1CAM):c.1379+3G>A variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 10049813 CV190978 NM_000541.5(SAG):c.875G>A (p.Arg292Gln) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10049816 CV190982 NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10049827 CV191002 NM_001165963.4(SCN1A):c.1889G>A (p.Arg630Gln) variant HP:0001250 Seizure IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 10049833 CV191009 NM_001458.5(FLNC):c.1698C>T (p.Ser566=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10049841 CV191022 NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) variant HP:0001250 Seizure IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Seizures PMID:19763161|PMID:25741868|PMID:28492532 10049847 CV191034 NM_004006.3(DMD):c.1150-4T>A variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10049870 CV191062 NM_015102.5(NPHP4):c.1319C>T (p.Ser440Leu) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10049892 CV191096 NM_024753.5(TTC21B):c.1358T>A (p.Met453Lys) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:28492532 10049914 CV191125 NM_001267550.2(TTN):c.31807G>A (p.Val10603Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10049918 CV191130 NM_000048.4(ASL):c.837G>C (p.Thr279=) variant HP:0025630 Argininosuccinic aciduria IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Argininosuccinic Aciduria PMID:28492532 10049925 CV191143 NM_000256.3(MYBPC3):c.1090G>C (p.Ala364Pro) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17576681|PMID:20513729|PMID:21302287|PMID:25740977|PMID:28492532|PMID:30645170|PMID:34556856|PMID:9536098 10049931 CV191153 NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10958763|PMID:18024811|PMID:19028736|PMID:22229821|PMID:24265693|PMID:25741868|PMID:26593885|PMID:26720470|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30718709|PMID:31429209|PMID:32307445|PMID:33706644 10049931 CV191153 NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) variant HP:0000608 Macular degeneration IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:10958763|PMID:18024811|PMID:19028736|PMID:22229821|PMID:24265693|PMID:25741868|PMID:26593885|PMID:26720470|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30718709|PMID:31429209|PMID:32307445|PMID:33706644 10049938 CV191165 NM_000540.3(RYR1):c.1172G>A (p.Arg391His) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:25741868|PMID:28492532 10049952 CV191187 NM_000245.4(MET):c.2584-7del variant HP:0005584 Renal cell carcinoma IAGP H RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:25741868|PMID:28492532 10049952 CV191187 NM_000245.4(MET):c.2584-7del variant HP:0011797 Papillary renal cell carcinoma type 1 IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma type 1 PMID:25741868|PMID:28492532 10049983 CV191235 NM_006017.3(PROM1):c.1345G>A (p.Val449Met) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25910913|PMID:28492532 10049997 CV191253 NM_014780.5(CUL7):c.2563A>G (p.Lys855Glu) variant HP:0001510 Growth delay IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation PMID:25741868|PMID:28492532 10049997 CV191253 NM_014780.5(CUL7):c.2563A>G (p.Lys855Glu) variant HP:0004322 Short stature IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:28492532 10050000 CV191257 NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20352026|PMID:22277662|PMID:25741868|PMID:26969326|PMID:28492532|PMID:30245029 10050003 CV191261 NM_016247.4(IMPG2):c.1243A>G (p.Asn415Asp) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10050010 CV191269 NM_018418.5(SPATA7):c.1428G>A (p.Ser476=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 10050017 CV191285 NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26467025|PMID:28492532|PMID:32714618 10050017 CV191285 NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu) variant HP:0004322 Short stature IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:26467025|PMID:28492532|PMID:32714618 10050024 CV191294 NM_144573.4(NEXN):c.1653A>G (p.Leu551=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10050041 CV191320 NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26467025|PMID:28492532 10050041 CV191320 NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:25741868|PMID:26467025|PMID:28492532 10050047 CV191333 NM_001278116.2(L1CAM):c.1547-4T>A variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:28492532 10050055 CV191347 NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10050061 CV191358 NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10050061 CV191358 NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn) variant HP:0000648 Optic atrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:28492532 10050074 CV191375 NM_003383.5(VLDLR):c.1901G>A (p.Arg634His) variant HP:0001321 Cerebellar hypoplasia IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:28492532 10050083 CV191396 NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) variant HP:0030051 Tip-toe gait IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Tip-toe gait PMID:23653251|PMID:25214167|PMID:25741863|PMID:25741868|PMID:28492532|PMID:29881221|PMID:30560358|PMID:34426522 10050098 CV191412 NM_014425.5(INVS):c.1971C>G (p.Asp657Glu) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532|PMID:31308072 10050099 CV191413 NM_014425.5(INVS):c.1925A>G (p.Lys642Arg) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10050100 CV191416 NM_015102.5(NPHP4):c.1533G>A (p.Pro511=) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10050101 CV191417 NM_016247.4(IMPG2):c.2372A>G (p.Glu791Gly) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10050102 CV191419 NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17990063|PMID:25741868|PMID:26467025|PMID:28492532 10050113 CV191435 NM_031220.4(PITPNM3):c.1688C>T (p.Thr563Met) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532|PMID:30718709 10050114 CV191437 NM_031433.4(MFRP):c.1635G>A (p.Ala545=) variant HP:0000546 Retinal degeneration IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:28492532 10050120 CV191451 NM_000335.5(SCN5A):c.2013C>T (p.Ser671=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:24033266|PMID:25741868|PMID:28492532|PMID:37732247 10050128 CV191461 NM_001267550.2(TTN):c.32970_32987del (p.10987_10989EEY[1]) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10050135 CV191469 NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Nonprogressive mental retardation PMID:25741868|PMID:26467025|PMID:28492532 10050143 CV191487 NM_000182.5(HADHA):c.1418C>A (p.Ala473Asp) variant HP:0100950 Decreased 3-hydroxyacyl-CoA dehydrogenase level IAGP H RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:25741868|PMID:28492532 10050144 CV191490 NM_001128178.3(NPHP1):c.1270-4C>T variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:28492532 10050145 CV191491 NM_000283.4(PDE6B):c.1781G>T (p.Gly594Val) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:34906470 10050145 CV191491 NM_000283.4(PDE6B):c.1781G>T (p.Gly594Val) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532|PMID:34906470 10050151 CV191502 NM_000520.6(HEXA):c.1527-6T>C variant HP:0025754 Reduced beta-hexosaminidase A activity IAGP H RGD:8554872 20240820 ClinVar ClinVar Annotator: match by term: Hexosaminidase A Deficiency PMID:25741868|PMID:26467025|PMID:28492532|PMID:8081943|PMID:9090523 10050153 CV191504 NM_000719.7(CACNA1C):c.2073C>T (p.Asn691=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10050154 CV191505 NM_000719.7(CACNA1C):c.2068G>A (p.Asp690Asn) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10050156 CV191507 NM_000726.5(CACNB4):c.1437G>A (p.Gln479=) variant HP:0002197 Generalized-onset seizure IAGP H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Generalised epilepsy PMID:26467025|PMID:28492532 10050167 CV191519 NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26084686|PMID:27296017|PMID:28087566|PMID:28492532|PMID:28798025|PMID:30847666|PMID:32851336|PMID:32880476 10050168 CV191520 NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20333770|PMID:21069908|PMID:21519034|PMID:25741868|PMID:26103963|PMID:28492532|PMID:30487145 10050168 CV191520 NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20333770|PMID:21069908|PMID:21519034|PMID:25741868|PMID:26103963|PMID:28492532|PMID:30487145 10050176 CV191535 NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10050180 CV191543 NM_003322.6(TULP1):c.1376T>C (p.Ile459Thr) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24154662|PMID:25741868|PMID:28492532|PMID:3203739|PMID:32037395 10050192 CV191568 NM_014425.5(INVS):c.2686G>A (p.Val896Ile) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532|PMID:31131822|PMID:31308072|PMID:31328266|PMID:33323469|PMID:34426522 10050193 CV191569 NM_014425.5(INVS):c.2785A>G (p.Ser929Gly) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10050194 CV191570 NM_014425.5(INVS):c.2311G>A (p.Asp771Asn) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10050195 CV191571 NM_014425.5(INVS):c.2776G>A (p.Ala926Thr) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10050198 CV191574 NM_015102.5(NPHP4):c.1632C>T (p.Ala544=) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:28492532 10050205 CV191583 NM_019098.5(CNGB3):c.1607T>C (p.Met536Thr) variant HP:0011516 Achromatopsia IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:28492532 10050210 CV191589 NM_020975.6(RET):c.2454G>A (p.Glu818=) variant HP:0002666 Pheochromocytoma IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:25741868|PMID:28492532 10050213 CV191595 NM_024753.5(TTC21B):c.1697A>G (p.His566Arg) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:21258341|PMID:25741868|PMID:28492532 10050215 CV191597 NM_025114.4(CEP290):c.1214C>T (p.Thr405Ile) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10050225 CV191611 NM_206933.4(USH2A):c.2992A>G (p.Arg998Gly) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868 10050229 CV191616 NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) variant HP:0001324 Muscle weakness IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868|PMID:28492532 10050229 CV191616 NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) variant HP:0003560 Muscular dystrophy IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:25741868|PMID:28492532 10050235 CV191627 NM_000180.4(GUCY2D):c.2921G>A (p.Arg974His) variant HP:0008020 Cone dystrophy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy progressive PMID:28492532 10050236 CV191628 NM_000257.4(MYH7):c.1755C>T (p.Ile585=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:20800588|PMID:24503780|PMID:25741868|PMID:28492532|PMID:33297573 10050236 CV191628 NM_000257.4(MYH7):c.1755C>T (p.Ile585=) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20800588|PMID:24503780|PMID:25741868|PMID:28492532|PMID:33297573 10050256 CV191654 NM_001297.5(CNGB1):c.1204G>A (p.Asp402Asn) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24938718|PMID:25741868|PMID:28492532 10050256 CV191654 NM_001297.5(CNGB1):c.1204G>A (p.Asp402Asn) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24938718|PMID:25741868|PMID:28492532 10050294 CV191706 NM_015346.4(ZFYVE26):c.2742C>T (p.Ser914=) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 10050305 CV191718 NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) variant HP:0011097 Epileptic spasm IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: West syndrome PMID:23934111|PMID:23935176|PMID:25326637|PMID:25741868|PMID:25772804|PMID:26467025|PMID:28379373|PMID:28492532|PMID:28628100|PMID:28708303|PMID:29186148|PMID:29844171|PMID:31558572|PMID:32860008 10050311 CV191725 NM_025114.4(CEP290):c.1384G>A (p.Val462Ile) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10050317 CV191735 NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21552264|PMID:25741868|PMID:26092869|PMID:28492532 10050327 CV191753 NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln) variant HP:0000608 Macular degeneration IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:25741868|PMID:28492532 10050331 CV191760 NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 10050332 CV191761 NM_001278116.2(L1CAM):c.1962C>T (p.Asp654=) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 10050335 CV191764 NM_000441.2(SLC26A4):c.1730T>C (p.Val577Ala) variant HP:0000365 Hearing impairment IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:29293505|PMID:29320412|PMID:34680964 10050338 CV191768 NM_000541.5(SAG):c.1132G>A (p.Val378Ile) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18175313|PMID:25741868|PMID:28492532|PMID:9501883 10050338 CV191768 NM_000541.5(SAG):c.1132G>A (p.Val378Ile) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:18175313|PMID:25741868|PMID:28492532|PMID:9501883 10050342 CV191774 NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10050354 CV191796 NM_003640.5(ELP1):c.1814A>G (p.Tyr605Cys) variant HP:0002885 Medulloblastoma IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:25741868|PMID:28492532 10050365 CV191815 NM_014425.5(INVS):c.3080G>A (p.Arg1027His) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10050370 CV191822 NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10050380 CV191834 NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:22135276|PMID:24033266|PMID:25741868|PMID:26969326|PMID:28492532|PMID:29148562|PMID:34426522 10050382 CV191838 NM_024753.5(TTC21B):c.2168G>A (p.Arg723Gln) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10050386 CV191844 NM_153240.5(NPHP3):c.2172-4A>G variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10050398 CV191862 NM_000180.4(GUCY2D):c.3098C>T (p.Ser1033Leu) variant HP:0008020 Cone dystrophy IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cone dystrophy progressive PMID:28492532 10050433 CV191918 NM_006204.4(PDE6C):c.2037-7T>C variant HP:0011516 Achromatopsia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Rod monochromacy PMID:28492532 10050441 CV191927 NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10050441 CV191927 NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn) variant HP:0000112 Nephropathy IAGP H RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nephropathy PMID:25741868|PMID:28492532 10050442 CV191928 NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15776426|PMID:25741868|PMID:28492532 10050461 CV191956 NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:26766544|PMID:27623334|PMID:28041643|PMID:28492532|PMID:28765526|PMID:29555955|PMID:30718709|PMID:31130284|PMID:31387115|PMID:31964843|PMID:32581362|PMID:33546218|PMID:33576794|PMID:33749171|PMID:34229535|PMID:35260635|PMID:35627310|PMID:35656873|PMID:35836572|PMID:36460718 10050461 CV191956 NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26766544|PMID:27623334|PMID:28041643|PMID:28492532|PMID:28765526|PMID:29555955|PMID:30718709|PMID:31130284|PMID:31387115|PMID:31964843|PMID:32581362|PMID:33546218|PMID:33576794|PMID:33749171|PMID:34229535|PMID:35260635|PMID:35627310|PMID:35656873|PMID:35836572|PMID:36460718 10050461 CV191956 NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) variant HP:0008020 Cone dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25741868|PMID:26766544|PMID:27623334|PMID:28041643|PMID:28492532|PMID:28765526|PMID:29555955|PMID:30718709|PMID:31130284|PMID:31387115|PMID:31964843|PMID:32581362|PMID:33546218|PMID:33576794|PMID:33749171|PMID:34229535|PMID:35260635|PMID:35627310|PMID:35656873|PMID:35836572|PMID:36460718 10050466 CV191962 NM_153240.5(NPHP3):c.2442T>C (p.Tyr814=) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10050469 CV191966 NM_206933.4(USH2A):c.3489C>T (p.Asp1163=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10050480 CV191983 NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10050482 CV191986 NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20333770|PMID:25741868|PMID:28492532 10050485 CV191991 NM_001844.5(COL2A1):c.1115G>A (p.Gly372Glu) variant HP:0005743 Avascular necrosis of the capital femoral epiphysis IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Avascular necrosis of the capital femoral epiphysis PMID:17078022|PMID:19344236|PMID:25604898|PMID:25741868|PMID:28492532|PMID:32333414|PMID:7695699|PMID:8218237|PMID:9016532 10050494 CV192007 NM_004006.3(DMD):c.2261G>T (p.Gly754Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10050507 CV192029 NM_015102.5(NPHP4):c.2425A>G (p.Lys809Glu) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10050524 CV192056 NM_025114.4(CEP290):c.1716A>G (p.Leu572=) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10050535 CV192072 NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:30086531 10050538 CV192080 NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) variant HP:0002014 Diarrhea IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Watery stool PMID:23010199|PMID:25741868|PMID:28492532|PMID:28667292 10050538 CV192080 NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) variant HP:0002373 Febrile seizure (within the age range of 3 months to 6 years) IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Fever induced seizures PMID:23010199|PMID:25741868|PMID:28492532|PMID:28667292 10050538 CV192080 NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) variant HP:0006934 Congenital nystagmus IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Congenital nystagmus PMID:23010199|PMID:25741868|PMID:28492532|PMID:28667292 10050538 CV192080 NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) variant HP:0011947 Respiratory tract infection IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Respiratory infections PMID:23010199|PMID:25741868|PMID:28492532|PMID:28667292 10050541 CV192085 NM_000540.3(RYR1):c.2319C>T (p.Asp773=) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:25741868|PMID:28492532 10050546 CV192090 NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20156848|PMID:24108129|PMID:25356970|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30167989 10050548 CV192092 NM_001330078.2(NRXN1):c.3499C>T (p.Arg1167Ter) variant HP:0001513 Obesity IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 10050549 CV192093 NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:26787102|PMID:28492532|PMID:33576794|PMID:34426522 10050549 CV192093 NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26787102|PMID:28492532|PMID:33576794|PMID:34426522 10050549 CV192093 NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) variant HP:0000648 Optic atrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:26787102|PMID:28492532|PMID:33576794|PMID:34426522 10050556 CV192106 NM_001252024.2(TRPM1):c.2485G>A (p.Glu829Lys) variant HP:0000648 Optic atrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:28492532 10050563 CV192114 NM_004006.3(DMD):c.2330T>C (p.Leu777Pro) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:29365344|PMID:33644936 10050570 CV192122 NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15111602|PMID:28492532 10050588 CV192151 NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) variant HP:0030051 Tip-toe gait IAGP H RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Tip-toe gait PMID:25741868|PMID:26467025|PMID:28492532|PMID:37091313 10050593 CV192158 NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21633164|PMID:25741868|PMID:28492532 10050601 CV192168 NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23396983|PMID:24033266|PMID:24476948|PMID:25741868|PMID:26383259|PMID:26467025|PMID:28492532 10050607 CV192177 NM_000100.4(CSTB):c.121G>A (p.Val41Met) variant HP:0002123 Generalized myoclonic seizure IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:25741868|PMID:26467025|PMID:28492532 10050615 CV192188 NM_000169.3(GLA):c.369+1G>A variant HP:0001071 Angiokeratoma corporis diffusum IAGP H RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum PMID:10916280|PMID:25741868|PMID:29186537|PMID:30988410|PMID:31010832 10050617 CV192191 NM_000180.4(GUCY2D):c.271G>C (p.Ala91Pro) variant HP:0008020 Cone dystrophy IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cone dystrophy progressive PMID:28492532 10050618 CV192192 NM_000180.4(GUCY2D):c.519C>T (p.Tyr173=) variant HP:0008020 Cone dystrophy IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cone dystrophy progressive PMID:28492532 10050619 CV192193 NM_000180.4(GUCY2D):c.369C>T (p.Gly123=) variant HP:0008020 Cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cone dystrophy progressive PMID:28492532 10050622 CV192200 NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) variant HP:0008672 Calcium oxalate nephrolithiasis IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:25741868|PMID:27238910|PMID:27939258|PMID:28492532|PMID:32432561 10050625 CV192205 NM_000217.3(KCNA1):c.*9G>A variant HP:0002411 Myokymia IAGP H RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Myokymia PMID:25741868|PMID:26467025 10050632 CV192218 NM_000283.4(PDE6B):c.485C>T (p.Ser162Leu) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 10050639 CV192225 NM_000327.4(ROM1):c.812T>C (p.Met271Thr) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16799052|PMID:25741868|PMID:28492532|PMID:7904211 10050639 CV192225 NM_000327.4(ROM1):c.812T>C (p.Met271Thr) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16799052|PMID:25741868|PMID:28492532|PMID:7904211 10050640 CV192226 NM_000327.4(ROM1):c.686G>A (p.Arg229His) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20335603|PMID:25741868|PMID:28492532|PMID:3442652 10050640 CV192226 NM_000327.4(ROM1):c.686G>A (p.Arg229His) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20335603|PMID:25741868|PMID:28492532|PMID:3442652 10050648 CV192242 NM_000520.6(HEXA):c.298G>T (p.Val100Phe) variant HP:0025754 Reduced beta-hexosaminidase A activity IAGP H RGD:8554872 20240820 ClinVar ClinVar Annotator: match by term: Hexosaminidase A Deficiency PMID:28492532 10050657 CV192259 NM_000719.7(CACNA1C):c.50-3C>T variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10050685 CV192304 NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser) variant HP:6000310 Preterm premature rupture of membranes IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Preterm premature rupture of membranes PMID:25741868|PMID:28492532|PMID:32161841 10050687 CV192306 NM_001458.5(FLNC):c.597C>T (p.Ala199=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 10050703 CV192329 NM_002335.4(LRP5):c.295G>A (p.Val99Met) variant HP:0000939 Osteoporosis IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:25741868|PMID:28492532 10050704 CV192332 NM_002381.5(MATN3):c.518C>A (p.Ala173Asp) variant HP:0002654 Multiple epiphyseal dysplasia IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia PMID:18205203 10050711 CV192343 NM_002693.3(POLG):c.32G>A (p.Gly11Asp) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17950645|PMID:18487244|PMID:18546365|PMID:19103152|PMID:19251978|PMID:19862739|PMID:20818383|PMID:21259344|PMID:21484424|PMID:21880868|PMID:22494076|PMID:23084792|PMID:23430834|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31085725|PMID:32391929|PMID:32445240|PMID:33233646|PMID:34052969|PMID:34670123|PMID:37184518 10050732 CV192373 NM_004281.4(BAG3):c.487C>T (p.Pro163Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10050733 CV192375 NM_004287.5(GOSR2):c.57G>A (p.Met19Ile) variant HP:0002123 Generalized myoclonic seizure IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:25741868|PMID:26467025|PMID:28492532 10050756 CV192406 NM_005506.4(SCARB2):c.246G>C (p.Arg82=) variant HP:0002123 Generalized myoclonic seizure IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:25741868|PMID:26467025|PMID:28492532 10050761 CV192411 NM_005802.5(TOPORS):c.74C>G (p.Ser25Trp) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10050761 CV192411 NM_005802.5(TOPORS):c.74C>G (p.Ser25Trp) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10050762 CV192412 NM_005802.5(TOPORS):c.58C>T (p.Pro20Ser) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10050766 CV192416 NM_005957.5(MTHFR):c.151C>T (p.Arg51Trp) variant HP:0100753 Schizophrenia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:25741868|PMID:28492532 10050767 CV192417 NM_006005.3(WFS1):c.20C>T (p.Pro7Leu) variant HP:0005978 Type II diabetes mellitus IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Type II diabetes mellitus PMID:25741868|PMID:28492532 10050770 CV192422 NM_006269.2(RP1):c.515T>G (p.Leu172Arg) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22334370|PMID:28041643|PMID:28492532|PMID:29068140|PMID:32565670 10050770 CV192422 NM_006269.2(RP1):c.515T>G (p.Leu172Arg) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:22334370|PMID:28041643|PMID:28492532|PMID:29068140|PMID:32565670 10050777 CV192431 NM_006915.3(RP2):c.260C>T (p.Thr87Ile) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20625056|PMID:23150612|PMID:25741868|PMID:28492532 10050784 CV192442 NM_012210.4(TRIM32):c.480G>A (p.Met160Ile) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10050803 CV192466 NM_015102.5(NPHP4):c.39T>G (p.Leu13=) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10050805 CV192471 NM_015629.4(PRPF31):c.138T>C (p.Asp46=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:19506198|PMID:28492532 10050805 CV192471 NM_015629.4(PRPF31):c.138T>C (p.Asp46=) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:19506198|PMID:28492532 10050808 CV192474 NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) variant HP:0000175 Cleft palate IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cleft of palate PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 10050808 CV192474 NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) variant HP:0000369 Low-set ears IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Melotia PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 10050808 CV192474 NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) variant HP:0000690 Agenesis of maxillary lateral incisor IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Missing upper lateral incisor PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 10050808 CV192474 NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) variant HP:0000776 Congenital diaphragmatic hernia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Diaphragmatic hernia PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 10050808 CV192474 NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) variant HP:0001250 Seizure IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Seizures PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 10050808 CV192474 NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) variant HP:0001263 Global developmental delay IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 10050808 CV192474 NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) variant HP:0002162 Low posterior hairline IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Low hairline at back of neck PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 10050808 CV192474 NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) variant HP:0009062 Infantile axial hypotonia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypotonia, axial, in infancy PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 10050808 CV192474 NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) variant HP:0011344 Severe global developmental delay IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Severe psychomotor retardation PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 10050808 CV192474 NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) variant HP:0012736 Profound global developmental delay IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Psychomotor retardation, profound PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 10050837 CV192517 NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10050845 CV192532 NM_022367.4(SEMA4A):c.84G>A (p.Thr28=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10050848 CV192536 NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:22842227|PMID:22842229|PMID:22842230|PMID:25741868|PMID:26018082|PMID:28492532|PMID:32865313 10050856 CV192550 NM_032575.3(GLIS2):c.239A>T (p.Asp80Val) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10050860 CV192556 NM_033337.3(CAV3):c.312G>A (p.Val104=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10050884 CV192597 NM_198506.5(LRIT3):c.379G>T (p.Asp127Tyr) variant HP:0000648 Optic atrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:28492532|PMID:32483926 10050886 CV192603 NM_201253.3(CRB1):c.600A>G (p.Thr200=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10050897 CV192618 NM_000283.4(PDE6B):c.2344G>A (p.Val782Met) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10050898 CV192621 NM_001278116.2(L1CAM):c.2657G>A (p.Arg886Gln) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:28492532 10050902 CV192628 NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10050920 CV192655 NM_004006.3(DMD):c.2575A>T (p.Thr859Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10050942 CV192692 NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:21258341|PMID:22773737|PMID:24876116|PMID:25741868|PMID:28492532 10050950 CV192707 NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10050989 CV192769 NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10050990 CV192770 NM_015102.5(NPHP4):c.3028G>A (p.Asp1010Asn) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10050991 CV192771 NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10050992 CV192773 NM_015102.5(NPHP4):c.2818-20C>T variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10050993 CV192774 NM_015102.5(NPHP4):c.3036C>T (p.Pro1012=) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10050994 CV192775 NM_015102.5(NPHP4):c.2892C>T (p.Ala964=) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10050994 CV192775 NM_015102.5(NPHP4):c.2892C>T (p.Ala964=) variant HP:0000112 Nephropathy IAGP H RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 10051017 CV192807 NM_000321.3(RB1):c.2212-15A>G variant HP:0009919 Retinoblastoma IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:28492532 10051018 CV192808 NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) variant HP:0008255 Transient neonatal diabetes mellitus IAGP H RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:27538677|PMID:28492532|PMID:32027066|PMID:32792356 10051019 CV192812 NM_001278116.2(L1CAM):c.3015C>T (p.Ile1005=) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:28492532 10051026 CV192820 NM_001035.3(RYR2):c.2449C>G (p.Pro817Ala) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10051026 CV192820 NM_001035.3(RYR2):c.2449C>G (p.Pro817Ala) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10051027 CV192821 NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Nonprogressive mental retardation PMID:25741868|PMID:28492532 10051029 CV192827 NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25097241|PMID:26667666|PMID:28492532|PMID:29550188 10051030 CV192828 NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30367527|PMID:30902645|PMID:36819107 10051030 CV192828 NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532|PMID:30367527|PMID:30902645|PMID:36819107 10051044 CV192851 NM_014714.4(IFT140):c.2829G>A (p.Pro943=) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 10051056 CV192866 NM_213599.3(ANO5):c.2521C>G (p.His841Asp) variant HP:0006785 Limb-girdle muscular dystrophy IAGP H RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:23606453|PMID:24022920|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31395899|PMID:32399949|PMID:32403337|PMID:32528171 10051060 CV192870 NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26498160|PMID:28492532 10051071 CV192881 NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:15769782|PMID:25342278|PMID:25741868|PMID:28492532|PMID:28771489|PMID:33495597|PMID:33642254 10051071 CV192881 NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:15769782|PMID:25342278|PMID:25741868|PMID:28492532|PMID:28771489|PMID:33495597|PMID:33642254 10051083 CV192896 NM_001142800.2(EYS):c.3568+5T>C variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10051083 CV192896 NM_001142800.2(EYS):c.3568+5T>C variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10051089 CV192902 NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25208129|PMID:25741868|PMID:28356264|PMID:28492532 10051094 CV192912 NM_004006.3(DMD):c.3101C>T (p.Ser1034Phe) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10051118 CV192945 NM_153240.5(NPHP3):c.3281G>A (p.Arg1094Gln) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10051120 CV192949 NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532|PMID:33528103 10051126 CV192957 NM_001267550.2(TTN):c.56535G>A (p.Thr18845=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10051140 CV192972 NM_001845.6(COL4A1):c.1466-6C>T variant HP:0002132 Porencephalic cyst IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Porencephalic cyst PMID:28492532 10051146 CV192979 NM_004006.3(DMD):c.3269A>T (p.Gln1090Leu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10051147 CV192982 NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:25819062|PMID:28492532 10051153 CV192989 NM_015102.5(NPHP4):c.3454C>T (p.Pro1152Ser) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10051155 CV192991 NM_015346.4(ZFYVE26):c.4737C>G (p.Ser1579Arg) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 10051160 CV192997 NM_025114.4(CEP290):c.2487A>G (p.Glu829=) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10051160 CV192997 NM_025114.4(CEP290):c.2487A>G (p.Glu829=) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 10051161 CV192999 NM_001267550.2(TTN):c.3988C>T (p.Arg1330Cys) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868 10051166 CV193004 NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:30847666 10051168 CV193006 NM_001267550.2(TTN):c.59316G>A (p.Pro19772=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10051171 CV193011 NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:12628722|PMID:17521870|PMID:20542340|PMID:22112859|PMID:22267749|PMID:24906243|PMID:25281569|PMID:25741868|PMID:26776584|PMID:28492532|PMID:28771489|PMID:32731933|PMID:33407484|PMID:33782553|PMID:34400558|PMID:35653365 10051171 CV193011 NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:12628722|PMID:17521870|PMID:20542340|PMID:22112859|PMID:22267749|PMID:24906243|PMID:25281569|PMID:25741868|PMID:26776584|PMID:28492532|PMID:28771489|PMID:32731933|PMID:33407484|PMID:33782553|PMID:34400558|PMID:35653365 10051183 CV193026 NM_001297.5(CNGB1):c.2370-9C>T variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10051184 CV193029 NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) variant HP:0000631 Retinal arterial tortuosity IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Retinal arterial tortuosity PMID:25741868|PMID:28492532 10051184 CV193029 NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) variant HP:0002132 Porencephalic cyst IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Porencephalic cyst PMID:25741868|PMID:28492532 10051184 CV193029 NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) variant HP:0010636 Schizencephaly IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: SCHIZENCEPHALY PMID:25741868|PMID:28492532 10051189 CV193039 NM_004006.3(DMD):c.3344T>C (p.Ile1115Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10051190 CV193040 NM_004187.5(KDM5C):c.4304G>A (p.Arg1435His) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:28492532 10051208 CV193069 NM_024753.5(TTC21B):c.3264-3C>G variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:17576681|PMID:21258341|PMID:25741868|PMID:28492532|PMID:9536098 10051217 CV193080 NM_001267550.2(TTN):c.61366G>A (p.Gly20456Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10051220 CV193084 NM_001267550.2(TTN):c.63273T>C (p.Asp21091=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10051222 CV193086 NM_001267550.2(TTN):c.64338T>C (p.Ala21446=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10051224 CV193089 NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) variant HP:0000286 Epicanthus IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epicanthal fold PMID:25741868|PMID:28492532|PMID:29892087|PMID:31737537 10051224 CV193089 NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) variant HP:0000750 Delayed speech and language development IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Delayed speech and language development PMID:25741868|PMID:28492532|PMID:29892087|PMID:31737537 10051224 CV193089 NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:29892087|PMID:31737537 10051224 CV193089 NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:29892087|PMID:31737537 10051224 CV193089 NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) variant HP:0002194 Delayed gross motor development IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Delayed gross motor development PMID:25741868|PMID:28492532|PMID:29892087|PMID:31737537 10051224 CV193089 NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) variant HP:0004442 Sagittal craniosynostosis IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sagittal craniosynostosis PMID:25741868|PMID:28492532|PMID:29892087|PMID:31737537 10051224 CV193089 NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) variant HP:0004443 Lambdoidal craniosynostosis IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lambdoidal craniosynostosis PMID:25741868|PMID:28492532|PMID:29892087|PMID:31737537 10051224 CV193089 NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) variant HP:0011623 Muscular ventricular septal defect IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular ventricular septal defect PMID:25741868|PMID:28492532|PMID:29892087|PMID:31737537 10051227 CV193093 NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10051230 CV193096 NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) variant HP:0002076 Migraine IAGP H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Migraine PMID:22249839|PMID:25741868|PMID:27959697|PMID:28007337|PMID:28492532|PMID:29056246|PMID:29100083|PMID:30283815|PMID:31468518|PMID:31487502 10051231 CV193099 NM_001142800.2(EYS):c.4402G>C (p.Asp1468His) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25097241|PMID:25741868|PMID:26667666|PMID:28492532|PMID:29550188|PMID:34906470 10051231 CV193099 NM_001142800.2(EYS):c.4402G>C (p.Asp1468His) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25097241|PMID:25741868|PMID:26667666|PMID:28492532|PMID:29550188|PMID:34906470 10051232 CV193100 NM_001142800.2(EYS):c.5644+5G>A variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:25741868|PMID:28492532|PMID:29641573|PMID:31960602|PMID:32218477|PMID:9536098 10051235 CV193103 NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) variant HP:0001250 Seizure IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:20729507|PMID:25741868|PMID:26467025|PMID:28492532 10051240 CV193110 NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10051251 CV193130 NM_004187.5(KDM5C):c.4338C>T (p.His1446=) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 10051255 CV193137 NM_015102.5(NPHP4):c.3575G>A (p.Arg1192Gln) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10051263 CV193150 NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25097241|PMID:25741868|PMID:28492532|PMID:29398085|PMID:29970488|PMID:32483926 10051263 CV193150 NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25097241|PMID:25741868|PMID:28492532|PMID:29398085|PMID:29970488|PMID:32483926 10051269 CV193156 NM_153240.5(NPHP3):c.3809T>C (p.Leu1270Pro) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10051270 CV193157 NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:12872122|PMID:28492532 10051279 CV193166 NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn) variant HP:0030051 Tip-toe gait IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Tip-toe gait PMID:25741868|PMID:28492532|PMID:37091313 10051281 CV193169 NM_000257.4(MYH7):c.3779G>C (p.Arg1260Pro) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10051284 CV193175 NM_001297.5(CNGB1):c.2656G>A (p.Ala886Thr) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 10051286 CV193179 NM_001252024.2(TRPM1):c.4499C>T (p.Thr1500Met) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532|PMID:35457050 10051291 CV193185 NM_004006.3(DMD):c.3696A>C (p.Ala1232=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10051296 CV193193 NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15776426|PMID:21546380|PMID:25741868|PMID:28492532 10051296 CV193193 NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met) variant HP:0000112 Nephropathy IAGP H RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nephropathy PMID:15776426|PMID:21546380|PMID:25741868|PMID:28492532 10051310 CV193217 NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10051314 CV193221 NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24440382|PMID:25163546|PMID:25741868|PMID:26559152|PMID:28492532|PMID:30993396|PMID:33692775|PMID:37549721 10051314 CV193221 NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24440382|PMID:25163546|PMID:25741868|PMID:26559152|PMID:28492532|PMID:30993396|PMID:33692775|PMID:37549721 10051318 CV193226 NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp) variant HP:0030051 Tip-toe gait IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Tip-toe gait PMID:28492532|PMID:37091313 10051319 CV193227 NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23396983|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28771489 10051321 CV193229 NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26516846|PMID:27854218|PMID:28492532 10051330 CV193238 NM_001267550.2(TTN):c.80527T>C (p.Leu26843=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10051333 CV193241 NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:30847666 10051350 CV193260 NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26969326|PMID:27344577|PMID:27460420|PMID:28492532|PMID:31479088|PMID:33297549 10051357 CV193271 NM_001035.3(RYR2):c.3356G>A (p.Arg1119His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25351510|PMID:25741868|PMID:25925909|PMID:28404607|PMID:28492532|PMID:35276540 10051369 CV193288 NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:29517769|PMID:29961767 10051375 CV193299 NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:23167750|PMID:25741868|PMID:28492532 10051382 CV193308 NM_000335.5(SCN5A):c.5433G>A (p.Ser1811=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:25741868|PMID:28492532 10051384 CV193311 NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30847666 10051402 CV193334 NM_002471.4(MYH6):c.3979-8C>T variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10051405 CV193340 NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10051417 CV193356 NM_001267550.2(TTN):c.95245G>A (p.Glu31749Lys) variant HP:0004756 Ventricular tachycardia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532 10051418 CV193357 NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26516846|PMID:28492532|PMID:34756330 10051433 CV193386 NM_000169.3(GLA):c.469C>T (p.Gln157Ter) variant HP:0001071 Angiokeratoma corporis diffusum IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum PMID:10666480|PMID:12175777|PMID:15712228|PMID:15776423|PMID:16595074|PMID:18849176|PMID:23826564|PMID:23935525|PMID:25741868|PMID:28492532|PMID:29361493|PMID:7531540|PMID:9100224|PMID:9268104 10051434 CV193387 NM_000169.3(GLA):c.485G>A (p.Trp162Ter) variant HP:0001071 Angiokeratoma corporis diffusum IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum PMID:10649504|PMID:10666480|PMID:11668641|PMID:12175777|PMID:15776423|PMID:25741868|PMID:26415523|PMID:28492532 10051445 CV193406 NM_000282.4(PCCA):c.223G>C (p.Ala75Pro) variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:10329019|PMID:12385775|PMID:23648696|PMID:27900673|PMID:28492532 10051447 CV193410 NM_000310.4(PPT1):c.329A>G (p.Asn110Ser) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:30541466|PMID:33528079|PMID:35693655 10051450 CV193415 NM_000329.3(RPE65):c.168A>G (p.Pro56=) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10051451 CV193416 NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:33919104|PMID:34790974 10051474 CV193450 NM_001127644.2(GABRA1):c.27C>A (p.Asp9Glu) variant HP:0002197 Generalized-onset seizure IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Generalised epilepsy PMID:25741868|PMID:28492532 10051511 CV193518 NM_003124.5(SPR):c.629G>A (p.Arg210Gln) variant HP:0001332 Dystonia IAGP H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Dystonia PMID:28492532 10051513 CV193520 NM_003322.6(TULP1):c.184C>T (p.Pro62Ser) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10051518 CV193530 NM_003923.3(FOXH1):c.499T>C (p.Phe167Leu) variant HP:0001360 Holoprosencephaly IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly PMID:28492532 10051518 CV193530 NM_003923.3(FOXH1):c.499T>C (p.Phe167Leu) variant HP:0002139 Arrhinencephaly IAGP H RGD:8554872 20230905 ClinVar ClinVar Annotator: match by term: ARHINENCEPHALY PMID:28492532 10051536 CV193560 NM_004820.5(CYP7B1):c.835G>A (p.Asp279Asn) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:28492532 10051544 CV193571 NM_005476.7(GNE):c.466T>C (p.Tyr156His) variant HP:0001873 Thrombocytopenia IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:24796702|PMID:25741868|PMID:26980148|PMID:28320138|PMID:28492532|PMID:31064749 10051545 CV193573 NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) variant HP:0000097 Focal segmental glomerulosclerosis IAGP H RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:26467025|PMID:28492532 10051545 CV193573 NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) variant HP:0002123 Generalized myoclonic seizure IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:25741868|PMID:26467025|PMID:28492532 10051546 CV193574 NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26467025|PMID:28492532 10051546 CV193574 NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) variant HP:0002123 Generalized myoclonic seizure IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:25741868|PMID:26467025|PMID:28492532 10051547 CV193575 NM_005670.4(EPM2A):c.600G>T (p.Gln200His) variant HP:0002123 Generalized myoclonic seizure IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532 10051550 CV193580 NM_005802.5(TOPORS):c.2161A>G (p.Arg721Gly) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10051553 CV193583 NM_005802.5(TOPORS):c.2862A>C (p.Thr954=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10051554 CV193584 NM_005802.5(TOPORS):c.2344A>G (p.Thr782Ala) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18509552|PMID:28492532 10051560 CV193593 NM_006261.5(PROP1):c.425C>T (p.Ala142Val) variant HP:0000141 Amenorrhea IAGP H RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:28492532|PMID:32870266|PMID:36407308|PMID:38096238 10051566 CV193603 NM_001110219.3(GJB6):c.177A>G (p.Gly59=) variant HP:0007529 Hidrotic ectodermal dysplasia IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 10051567 CV193605 NM_006915.3(RP2):c.844C>T (p.Arg282Trp) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10862093|PMID:10937588|PMID:11992260|PMID:22334370|PMID:24033266|PMID:25741868|PMID:28492532 10051578 CV193625 NM_014336.5(AIPL1):c.305G>A (p.Arg102Gln) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10051579 CV193627 NM_014425.5(INVS):c.114T>C (p.Ser38=) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10051581 CV193630 NM_015102.5(NPHP4):c.267C>T (p.Ile89=) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10051582 CV193631 NM_015102.5(NPHP4):c.279G>T (p.Glu93Asp) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10051583 CV193632 NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15776426|PMID:21068128|PMID:21546380|PMID:22550138|PMID:24033266|PMID:25741868|PMID:28492532 10051645 CV193722 NM_031433.4(MFRP):c.159T>C (p.Gly53=) variant HP:0000546 Retinal degeneration IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:28492532 10051646 CV193723 NM_031433.4(MFRP):c.160C>G (p.Arg54Gly) variant HP:0000546 Retinal degeneration IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:28492532 10051653 CV193730 NM_032575.3(GLIS2):c.522+10G>A variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10051657 CV193734 NM_001267550.2(TTN):c.186C>T (p.Arg62=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10051660 CV193737 NM_144631.6(ZNF513):c.290C>T (p.Ala97Val) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10051661 CV193738 NM_144631.6(ZNF513):c.519C>T (p.Ser173=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10051663 CV193740 NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) variant HP:0000545 Myopia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Nearsightedness PMID:25741868|PMID:28492532 10051663 CV193740 NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) variant HP:0000924 Abnormality of the skeletal system IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Skeletal anomalies PMID:25741868|PMID:28492532 10051663 CV193740 NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) variant HP:0000973 Cutis laxa IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypoelastic skin PMID:25741868|PMID:28492532 10051663 CV193740 NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) variant HP:0001634 Mitral valve prolapse IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Mitral valve prolapse PMID:25741868|PMID:28492532 10051663 CV193740 NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) variant HP:0003549 Abnormality of connective tissue IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormality of connective tissue PMID:25741868|PMID:28492532 10051663 CV193740 NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) variant HP:0100324 Scleroderma IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Pseudoscleroderma PMID:25741868|PMID:28492532 10051672 CV193756 NM_173660.5(DOK7):c.331+9C>T variant HP:0001989 Fetal akinesia sequence IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia sequence PMID:25741868|PMID:28492532 10051673 CV193758 NM_173660.5(DOK7):c.134C>T (p.Ser45Leu) variant HP:0001989 Fetal akinesia sequence IAGP H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fetal akinesia sequence PMID:17439981|PMID:20012313|PMID:20562457|PMID:22661499|PMID:23657916|PMID:25741868|PMID:28492532 10051674 CV193760 NM_144596.4(TTC8):c.267C>A (p.Arg89=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16308660|PMID:28492532 10051675 CV193761 NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14520415|PMID:25741868|PMID:28492532 10051694 CV193792 NM_015102.5(NPHP4):c.4145G>A (p.Gly1382Glu) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10051703 CV193804 NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile) variant HP:0030051 Tip-toe gait IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Tip-toe gait PMID:28492532|PMID:37091313 10051711 CV193814 NM_001267550.2(TTN):c.102811G>A (p.Val34271Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 10051754 CV193874 NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10051806 CV193934 NM_001297.5(CNGB1):c.3305G>A (p.Arg1102Gln) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10051822 CV193954 NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10051823 CV193955 NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10051824 CV193956 NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10051828 CV193961 NM_001267550.2(TTN):c.7469G>A (p.Arg2490His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10051828 CV193961 NM_001267550.2(TTN):c.7469G>A (p.Arg2490His) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:25741868 10051829 CV193962 NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10051831 CV193966 NM_138694.4(PKHD1):c.4920A>G (p.Val1640=) variant HP:0000113 Polycystic kidney dysplasia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:12874454|PMID:25741868|PMID:28492532 10051889 CV194029 NM_006445.4(PRPF8):c.5352C>T (p.Asn1784=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10051889 CV194029 NM_006445.4(PRPF8):c.5352C>T (p.Asn1784=) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 10051900 CV194051 NM_001851.6(COL9A1):c.2159G>A (p.Arg720Gln) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10051900 CV194051 NM_001851.6(COL9A1):c.2159G>A (p.Arg720Gln) variant HP:0000648 Optic atrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:28492532 10051906 CV194057 NM_004006.3(DMD):c.4811C>G (p.Pro1604Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10051907 CV194059 NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile) variant HP:0001735 Acute pancreatitis IAGP H RGD:405850206 20240719 GWAS_CATALOG Based on the EFO term ID PMID:27114598 10051910 CV194062 NM_005045.4(RELN):c.5200C>G (p.Leu1734Val) variant HP:0001339 Lissencephaly IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:25741868|PMID:26467025|PMID:28492532|PMID:29671837 10051958 CV194128 NM_001035.3(RYR2):c.4736T>C (p.Val1579Ala) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:26743400|PMID:28377322 10051966 CV194136 NM_002471.4(MYH6):c.5491G>A (p.Glu1831Lys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:30775854|PMID:30847666 10051983 CV194156 NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10051984 CV194157 NM_001035.3(RYR2):c.5712G>A (p.Leu1904=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10051994 CV194170 NM_005120.3(MED12):c.5400+6C>T variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 10052000 CV194179 NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Nonprogressive mental retardation PMID:25741868|PMID:26467025|PMID:28492532|PMID:30564623|PMID:31692161 10052004 CV194187 NM_000719.7(CACNA1C):c.4624-8G>A variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10052010 CV194195 NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) variant HP:0030051 Tip-toe gait IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Tip-toe gait PMID:25741868|PMID:26467025|PMID:28492532|PMID:30564623|PMID:37091313 10052018 CV194206 NM_025114.4(CEP290):c.5013-7A>C variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:28492532 10052024 CV194216 NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20108432|PMID:23755871|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29555955|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32619608|PMID:35119454 10052026 CV194219 NM_000719.7(CACNA1C):c.4727-10C>T variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10052027 CV194220 NM_000719.7(CACNA1C):c.4760C>T (p.Ala1587Val) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:30847666 10052043 CV194245 NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10052043 CV194245 NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10052066 CV194275 NM_000179.3(MSH6):c.742C>G (p.Arg248Gly) variant HP:0012114 Endometrial carcinoma IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868|PMID:28492532 10052067 CV194276 NM_000179.3(MSH6):c.1223C>G (p.Pro408Arg) variant HP:0012114 Endometrial carcinoma IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868|PMID:28492532|PMID:34326862 10052068 CV194278 NM_000180.4(GUCY2D):c.1290C>T (p.Ala430=) variant HP:0008020 Cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cone dystrophy progressive PMID:28492532 10052069 CV194279 NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17964524|PMID:25097241|PMID:25741868|PMID:26626312|PMID:28492532|PMID:32483926|PMID:34426522 10052069 CV194279 NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) variant HP:0008020 Cone dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cone dystrophy progressive PMID:17964524|PMID:25097241|PMID:25741868|PMID:26626312|PMID:28492532|PMID:32483926|PMID:34426522 10052073 CV194288 NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10052081 CV194297 NM_000371.4(TTR):c.384C>T (p.Ala128=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:14640030|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10052081 CV194297 NM_000371.4(TTR):c.384C>T (p.Ala128=) variant HP:0030843 Cardiac amyloidosis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:14640030|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10052084 CV194300 NM_001278116.2(L1CAM):c.396C>T (p.Ala132=) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:26467025|PMID:28492532 10052085 CV194301 NM_001278116.2(L1CAM):c.256G>A (p.Val86Met) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 10052086 CV194302 NM_001278116.2(L1CAM):c.386G>A (p.Arg129Gln) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 10052092 CV194311 NM_000515.5(GH1):c.387C>T (p.Tyr129=) variant HP:0000824 Decreased response to growth hormone stimulation test IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Decreased response to growth hormone stimulation test PMID:28492532 10052096 CV194319 NM_000540.3(RYR1):c.271-7C>G variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:25741868|PMID:28492532 10052104 CV194328 NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser) variant HP:0002197 Generalized-onset seizure IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Generalised epilepsy PMID:25741868|PMID:28492532 10052105 CV194330 NM_000883.4(IMPDH1):c.336C>T (p.Ala112=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10052108 CV194334 NM_001012720.2(RGR):c.385G>A (p.Val129Ile) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10052119 CV194356 NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) variant HP:0009830 Peripheral neuropathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10862709|PMID:25741868|PMID:26392352|PMID:28492532|PMID:30122514 10052137 CV194383 NM_003865.3(HESX1):c.525G>A (p.Ala175=) variant HP:0100842 Septo-optic dysplasia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: De morsier syndrome PMID:17148560|PMID:28492532 10052158 CV194413 NM_005327.7(HADH):c.486A>G (p.Arg162=) variant HP:0000825 Hyperinsulinemic hypoglycemia IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia PMID:28492532|PMID:29280746|PMID:34055426|PMID:34547194 10052160 CV194416 NM_170707.4(LMNA):c.643C>T (p.Leu215=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10052161 CV194418 NM_005592.4(MUSK):c.486+7G>C variant HP:0001989 Fetal akinesia sequence IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia sequence PMID:25741868|PMID:28492532 10052162 CV194419 NM_005592.4(MUSK):c.486G>C (p.Arg162Ser) variant HP:0001989 Fetal akinesia sequence IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia sequence PMID:25741868|PMID:28492532 10052172 CV194429 NM_006204.4(PDE6C):c.742A>G (p.Asn248Asp) variant HP:0011516 Achromatopsia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Rod monochromacy PMID:28492532 10052174 CV194431 NM_006269.2(RP1):c.6196G>A (p.Asp2066Asn) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11527933|PMID:25741868|PMID:28492532 10052175 CV194434 NM_006269.2(RP1):c.4299A>G (p.Ala1433=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10052176 CV194435 NM_006269.2(RP1):c.3532G>T (p.Asp1178Tyr) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10052177 CV194436 NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10052191 CV194456 NM_014425.5(INVS):c.367C>T (p.Arg123Trp) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10052208 CV194483 NM_020433.5(JPH2):c.1380G>A (p.Ala460=) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10052236 CV194518 NM_031433.4(MFRP):c.355A>G (p.Ile119Val) variant HP:0000546 Retinal degeneration IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:25741868|PMID:28492532 10052269 CV194567 NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:27930701|PMID:28492532|PMID:30279520 10052283 CV194587 NM_000719.7(CACNA1C):c.5091+8G>A variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10052284 CV194588 NM_001148.6(ANK2):c.11010C>T (p.Thr3670=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10052285 CV194589 NM_001110556.2(FLNA):c.6871G>A (p.Gly2291Ser) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Nonprogressive mental retardation PMID:25741868|PMID:28492532 10052303 CV194615 NM_000719.7(CACNA1C):c.5202C>T (p.Gly1734=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10052304 CV194616 NM_000719.7(CACNA1C):c.5307C>T (p.Asn1769=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10052305 CV194617 NM_001142800.2(EYS):c.8080A>G (p.Ile2694Val) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532|PMID:32037395|PMID:3248392 10052315 CV194631 NM_006445.4(PRPF8):c.6792G>A (p.Ser2264=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10052320 CV194639 NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Nonprogressive mental retardation PMID:25741868|PMID:26467025|PMID:28492532 10052321 CV194641 NM_001148.6(ANK2):c.11538C>T (p.Leu3846=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10052329 CV194652 NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val) variant HP:0000365 Hearing impairment IAGP H RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 10052333 CV194659 NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25633834|PMID:28492532 10052338 CV194666 NM_005751.5(AKAP9):c.10767G>A (p.Leu3589=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10052340 CV194670 NM_206933.4(USH2A):c.8730T>A (p.Phe2910Leu) variant HP:0000365 Hearing impairment IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:28492532|PMID:30311386 10052341 CV194672 NM_000719.7(CACNA1C):c.5772G>C (p.Leu1924=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10052342 CV194673 NM_000719.7(CACNA1C):c.5706A>G (p.Glu1902=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10052349 CV194683 NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:11710958|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7599634|PMID:7849724 10052360 CV194699 NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25260352|PMID:25633834|PMID:25741868|PMID:28492532|PMID:30847666 10052360 CV194699 NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25260352|PMID:25633834|PMID:25741868|PMID:28492532|PMID:30847666 10052364 CV194706 NM_004006.3(DMD):c.6732G>C (p.Gln2244His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10052374 CV194721 NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10052377 CV194724 NM_001458.5(FLNC):c.7862G>A (p.Arg2621Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:30086531 10052386 CV194739 NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10052397 CV194759 NM_025114.4(CEP290):c.6523-6T>C variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:28492532 10052407 CV194770 NM_000540.3(RYR1):c.7923C>G (p.Leu2641=) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:20681998|PMID:25741868|PMID:26467025|PMID:28492532 10052408 CV194771 NM_004006.3(DMD):c.7179A>T (p.Lys2393Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10052415 CV194779 NM_000023.4(SGCA):c.421C>A (p.Arg141Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:12746421|PMID:18285821|PMID:25741868|PMID:25802880|PMID:26467025|PMID:28492532|PMID:31931849|PMID:34426522 10052419 CV194787 NM_001379270.1(CNGA1):c.179G>T (p.Gly60Val) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10052423 CV194799 NM_000169.3(GLA):c.661C>T (p.Gln221Ter) variant HP:0001071 Angiokeratoma corporis diffusum IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum PMID:10666480|PMID:12175777|PMID:17656478|PMID:25741868|PMID:28492532 10052424 CV194800 NM_000169.3(GLA):c.801+3A>G variant HP:0001071 Angiokeratoma corporis diffusum IAGP H RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum PMID:15712228|PMID:15806320|PMID:16595074|PMID:25741868 10052425 CV194801 NM_000169.3(GLA):c.695T>G (p.Ile232Ser) variant HP:0001071 Angiokeratoma corporis diffusum IAGP H RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum PMID:25741868 10052429 CV194809 NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser) variant HP:0008181 Abetalipoproteinemia IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Abetalipoproteinemia PMID:28492532 10052431 CV194814 NM_001128178.3(NPHP1):c.330-4G>A variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10052432 CV194815 NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10052438 CV194823 NM_000314.8(PTEN):c.424C>T (p.Arg142Trp) variant HP:0000256 Macrocephaly IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: large head PMID:16506206|PMID:17873882|PMID:19340001|PMID:19458356|PMID:22491738|PMID:25669429|PMID:25741868|PMID:26534844|PMID:26773036|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:34793697|PMID:35982159|PMID:36270489|PMID:38335860|PMID:38645101 10052438 CV194823 NM_000314.8(PTEN):c.424C>T (p.Arg142Trp) variant HP:0000729 Autistic behavior IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:16506206|PMID:17873882|PMID:19340001|PMID:19458356|PMID:22491738|PMID:25669429|PMID:25741868|PMID:26534844|PMID:26773036|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:34793697|PMID:35982159|PMID:36270489|PMID:38335860|PMID:38645101 10052438 CV194823 NM_000314.8(PTEN):c.424C>T (p.Arg142Trp) variant HP:0012758 Neurodevelopmental delay IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Neurodevelopmental delay PMID:16506206|PMID:17873882|PMID:19340001|PMID:19458356|PMID:22491738|PMID:25669429|PMID:25741868|PMID:26534844|PMID:26773036|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:34793697|PMID:35982159|PMID:36270489|PMID:38335860|PMID:38645101 10052451 CV194843 NM_000520.6(HEXA):c.536A>G (p.His179Arg) variant HP:0025754 Reduced beta-hexosaminidase A activity IAGP H RGD:8554872 20240820 ClinVar ClinVar Annotator: match by term: Hexosaminidase A Deficiency PMID:22789865|PMID:28492532 10052453 CV194849 NM_000719.7(CACNA1C):c.666C>T (p.Asn222=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10052460 CV194856 NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 10052469 CV194867 NM_001023570.4(IQCB1):c.322C>T (p.Leu108Phe) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10052471 CV194870 NM_001039348.3(EFEMP1):c.418C>T (p.Arg140Trp) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26162006|PMID:28492532 10052472 CV194871 NM_001042432.2(CLN3):c.270T>G (p.Phe90Leu) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10052511 CV194927 NM_004698.4(PRPF3):c.501A>G (p.Thr167=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10052520 CV194938 NM_005609.4(PYGM):c.660G>A (p.Gln220=) variant HP:0030051 Tip-toe gait IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Tip-toe gait PMID:25741868|PMID:25987006|PMID:28492532|PMID:28967462|PMID:29881221|PMID:34906502|PMID:35628876|PMID:38374194 10052525 CV194945 NM_006343.3(MERTK):c.791C>G (p.Ala264Gly) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24265693|PMID:25741868|PMID:28492532 10052558 CV194986 NM_001379286.1(ZNF423):c.1132G>A (p.Ala378Thr) variant HP:0000648 Optic atrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:28492532 10052561 CV194994 NM_018100.4(EFHC1):c.916A>G (p.Lys306Glu) variant HP:0002121 Generalized non-motor (absence) seizure IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Absence seizure PMID:28492532 10052563 CV194996 NM_018418.5(SPATA7):c.364T>A (p.Leu122Ile) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10052581 CV195020 NM_024675.4(PALB2):c.2505C>T (p.Ser835=) variant HP:0003002 Breast carcinoma IAGP H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Breast cancer PMID:25741868|PMID:28492532|PMID:30287823 10052590 CV195036 NM_152443.3(RDH12):c.317G>A (p.Arg106Gln) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10052591 CV195037 NM_152443.3(RDH12):c.195A>C (p.Arg65=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10052592 CV195038 NM_152443.3(RDH12):c.300C>T (p.Ser100=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10052593 CV195039 NM_152443.3(RDH12):c.210dup (p.Arg71fs) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17964524|PMID:22065924|PMID:25741868|PMID:28492532|PMID:30902645|PMID:32014858|PMID:34001834 10052596 CV195042 NM_153240.5(NPHP3):c.864T>A (p.Thr288=) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10052596 CV195042 NM_153240.5(NPHP3):c.864T>A (p.Thr288=) variant HP:0000112 Nephropathy IAGP H RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nephropathy PMID:25741868|PMID:28492532 10052601 CV195053 NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile) variant HP:0001250 Seizure IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:25818041|PMID:28492532|PMID:29056246|PMID:29720203 10052609 CV195065 NM_198859.4(PRICKLE2):c.444C>T (p.Arg148=) variant HP:0002123 Generalized myoclonic seizure IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532 10052638 CV195107 NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:21514828|PMID:21965348|PMID:22705209|PMID:23204524|PMID:24033266|PMID:24195946|PMID:25461839|PMID:25741868|PMID:25960145|PMID:26467025|PMID:28492532|PMID:30788618 10052641 CV195112 NM_004006.3(DMD):c.7747A>G (p.Thr2583Ala) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10052646 CV195118 NM_001267550.2(TTN):c.16551G>A (p.Ser5517=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10052648 CV195121 NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:25326635|PMID:25741868|PMID:28492532 10052649 CV195122 NM_001035.3(RYR2):c.8147A>T (p.Lys2716Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28404607|PMID:28492532|PMID:28790152|PMID:29447731|PMID:30847666|PMID:31078384 10052649 CV195122 NM_001035.3(RYR2):c.8147A>T (p.Lys2716Ile) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28404607|PMID:28492532|PMID:28790152|PMID:29447731|PMID:30847666|PMID:31078384 10052654 CV195129 NM_004006.3(DMD):c.7988C>G (p.Thr2663Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10052659 CV195134 NM_025114.4(CEP290):c.7416T>A (p.Ser2472Arg) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:28492532 10052664 CV195140 NM_004006.3(DMD):c.8147A>G (p.Gln2716Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10052665 CV195142 NM_004006.3(DMD):c.8076A>G (p.Gln2692=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10052674 CV195153 NM_004006.3(DMD):c.8226A>G (p.Gln2742=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10052700 CV195185 NM_032119.4(ADGRV1):c.12208G>A (p.Val4070Ile) variant HP:0000365 Hearing impairment IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28157192|PMID:28492532|PMID:30311386 10052712 CV195206 NM_000143.4(FH):c.892G>C (p.Ala298Pro) variant HP:0007437 Multiple cutaneous leiomyomas IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Multiple cutaneous leiomyomas PMID:22764886|PMID:28492532 10052719 CV195216 NM_000180.4(GUCY2D):c.1499C>T (p.Pro500Leu) variant HP:0008020 Cone dystrophy IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cone dystrophy progressive PMID:28492532 10052720 CV195217 NM_000180.4(GUCY2D):c.1513C>T (p.Leu505=) variant HP:0008020 Cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cone dystrophy progressive PMID:28492532 10052732 CV195239 NM_001384910.1(GUCA1A):c.526C>T (p.Leu176Phe) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26766544|PMID:28025326|PMID:28492532|PMID:29555955|PMID:32531858 10052733 CV195241 NM_001278116.2(L1CAM):c.591T>C (p.Asn197=) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10797421|PMID:28492532 10052734 CV195242 NM_001278116.2(L1CAM):c.603C>T (p.Ser201=) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 10052738 CV195251 NM_000540.3(RYR1):c.526G>A (p.Glu176Lys) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:21118704|PMID:25741868|PMID:28326467|PMID:28492532|PMID:30236257|PMID:33037202 10052738 CV195251 NM_000540.3(RYR1):c.526G>A (p.Glu176Lys) variant HP:0034733 Anesthesic-triggered malignant hyperthermia IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Anesthesic-triggered malignant hyperthermia PMID:21118704|PMID:25741868|PMID:28326467|PMID:28492532|PMID:30236257|PMID:33037202 10052751 CV195274 NM_201548.5(CERKL):c.820+9G>A variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10052778 CV195315 NM_003001.5(SDHC):c.420A>G (p.Gly140=) variant HP:0100723 Gastrointestinal stroma tumor IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Gastrointestinal stroma tumor PMID:25741868|PMID:28492532 10052781 CV195325 NM_004287.5(GOSR2):c.478-4C>G variant HP:0002123 Generalized myoclonic seizure IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532 10052791 CV195341 NM_005055.5(RAPSN):c.957G>C (p.Val319=) variant HP:0001989 Fetal akinesia sequence IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia sequence PMID:28492532 10052799 CV195351 NM_006005.3(WFS1):c.683G>A (p.Arg228His) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24033266|PMID:25133958|PMID:25741868|PMID:28432734|PMID:28492532 10052799 CV195351 NM_006005.3(WFS1):c.683G>A (p.Arg228His) variant HP:0005978 Type II diabetes mellitus IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:24033266|PMID:25133958|PMID:25741868|PMID:28432734|PMID:28492532 10052801 CV195353 NM_006214.4(PHYH):c.678+5G>T variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14974078|PMID:20818383|PMID:25741868|PMID:28041643|PMID:28492532|PMID:32581362|PMID:34426522 10052801 CV195353 NM_006214.4(PHYH):c.678+5G>T variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:14974078|PMID:20818383|PMID:25741868|PMID:28041643|PMID:28492532|PMID:32581362|PMID:34426522 10052802 CV195354 NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln) variant HP:0002123 Generalized myoclonic seizure IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Myoclonus seizures PMID:25741868|PMID:28492532 10052815 CV195369 NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:21153841|PMID:25741868|PMID:28492532|PMID:3257969 10052815 CV195369 NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:21153841|PMID:25741868|PMID:28492532|PMID:3257969 10052821 CV195381 NM_015629.4(PRPF31):c.527+9G>T variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10052831 CV195392 NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10052835 CV195397 NM_020184.4(CNNM4):c.2130+5G>A variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:25741868|PMID:28492532|PMID:30718709|PMID:9536098 10052846 CV195418 NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:21258341|PMID:25741868|PMID:28492532 10052851 CV195425 NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:28492532 10052851 CV195425 NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 10052852 CV195426 NM_025114.4(CEP290):c.341G>A (p.Arg114His) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10052857 CV195432 NM_031433.4(MFRP):c.770G>A (p.Arg257His) variant HP:0000546 Retinal degeneration IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:25741868|PMID:28492532 10052879 CV195463 NM_004006.3(DMD):c.9032C>T (p.Pro3011Leu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10052883 CV195467 NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:12846734|PMID:14741187|PMID:15805161|PMID:21493627|PMID:25646624|PMID:25701400|PMID:25741868|PMID:28492532|PMID:33532864|PMID:33716212 10052892 CV195480 NM_004006.3(DMD):c.9198G>A (p.Ser3066=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10052898 CV195489 NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:25741868|PMID:28492532 10052905 CV195502 NM_206933.4(USH2A):c.13478G>A (p.Arg4493His) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24033266|PMID:24938718|PMID:25078356|PMID:25741868|PMID:28492532 10052909 CV195508 NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) variant HP:0000161 Median cleft upper lip IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Median cleft upper lip PMID:24033266|PMID:25741868|PMID:28492532 10052909 CV195508 NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) variant HP:0000175 Cleft palate IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cleft of palate PMID:24033266|PMID:25741868|PMID:28492532 10052909 CV195508 NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) variant HP:0000204 Cleft upper lip IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Harelip PMID:24033266|PMID:25741868|PMID:28492532 10052909 CV195508 NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) variant HP:0000892 Bifid ribs IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Split ribs PMID:24033266|PMID:25741868|PMID:28492532 10052909 CV195508 NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) variant HP:0001555 Asymmetry of the thorax IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Asymmetric chest PMID:24033266|PMID:25741868|PMID:28492532 10052909 CV195508 NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) variant HP:0006970 Periventricular leukomalacia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Periventricular leukomalacia PMID:24033266|PMID:25741868|PMID:28492532 10052909 CV195508 NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) variant HP:0100543 Cognitive impairment IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Intellectual impairment PMID:24033266|PMID:25741868|PMID:28492532 10052917 CV195518 NM_001267550.2(TTN):c.19744C>T (p.Arg6582Ter) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:22335739|PMID:23975875|PMID:25589632|PMID:25741868|PMID:26701604|PMID:28492532 10052921 CV195522 NM_004006.3(DMD):c.9564-5A>G variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10052930 CV195533 NM_001035.3(RYR2):c.10059C>A (p.Leu3353=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10052930 CV195533 NM_001035.3(RYR2):c.10059C>A (p.Leu3353=) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10052938 CV195545 NM_000048.4(ASL):c.467C>T (p.Pro156Leu) variant HP:0025630 Argininosuccinic aciduria IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Argininosuccinic Aciduria PMID:24166829|PMID:25741868|PMID:28492532|PMID:29773863|PMID:31030429 10052939 CV195546 NM_000048.4(ASL):c.502C>T (p.Arg168Cys) variant HP:0000717 Autism IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 10052939 CV195546 NM_000048.4(ASL):c.502C>T (p.Arg168Cys) variant HP:0025630 Argininosuccinic aciduria IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Argininosuccinic Aciduria PMID:25741868 10052948 CV195559 NM_000163.5(GHR):c.718T>C (p.Tyr240His) variant HP:0001250 Seizure IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures PMID:10984309|PMID:25741868|PMID:28492532 10052948 CV195559 NM_000163.5(GHR):c.718T>C (p.Tyr240His) variant HP:0001328 Specific learning disability IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:10984309|PMID:25741868|PMID:28492532 10052948 CV195559 NM_000163.5(GHR):c.718T>C (p.Tyr240His) variant HP:0002970 Genu varum IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genu varum PMID:10984309|PMID:25741868|PMID:28492532 10052948 CV195559 NM_000163.5(GHR):c.718T>C (p.Tyr240His) variant HP:0004322 Short stature IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:10984309|PMID:25741868|PMID:28492532 10052948 CV195559 NM_000163.5(GHR):c.718T>C (p.Tyr240His) variant HP:0004482 Relative macrocephaly IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Relative macrocephaly PMID:10984309|PMID:25741868|PMID:28492532 10052948 CV195559 NM_000163.5(GHR):c.718T>C (p.Tyr240His) variant HP:0005026 Mesomelic/rhizomelic limb shortening IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mesomelic/rhizomelic limb shortening PMID:10984309|PMID:25741868|PMID:28492532 10052948 CV195559 NM_000163.5(GHR):c.718T>C (p.Tyr240His) variant HP:0008873 Disproportionate short-limb short stature IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disproportionate short-limb short stature PMID:10984309|PMID:25741868|PMID:28492532 10052949 CV195560 NM_000169.3(GLA):c.1072G>A (p.Glu358Lys) variant HP:0001071 Angiokeratoma corporis diffusum IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum PMID:12429061|PMID:15339079|PMID:15712228|PMID:15713906|PMID:18154965|PMID:21598360|PMID:25741868|PMID:26297554|PMID:26415523|PMID:28492532|PMID:8807334|PMID:9452068 10052950 CV195561 NM_000169.3(GLA):c.1157A>C (p.Gln386Pro) variant HP:0001071 Angiokeratoma corporis diffusum IAGP H RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum PMID:16595074|PMID:23935525|PMID:24033266|PMID:25382311|PMID:25741868|PMID:28492532 10052951 CV195562 NM_000169.3(GLA):c.1087C>T (p.Arg363Cys) variant HP:0001071 Angiokeratoma corporis diffusum IAGP H RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum PMID:11668641|PMID:12175777|PMID:15003450|PMID:15924232|PMID:19387866|PMID:21138548|PMID:21598360|PMID:22063097|PMID:25741868|PMID:25762495|PMID:26937405|PMID:27916943|PMID:28302345|PMID:28492532|PMID:28615118|PMID:28749998|PMID:29437868|PMID:29661900|PMID:30103270|PMID:31860127|PMID:32442237 10052952 CV195563 NM_000169.3(GLA):c.1235_1236del (p.Thr412fs) variant HP:0001071 Angiokeratoma corporis diffusum IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum PMID:11668641|PMID:15712228|PMID:16595074|PMID:1668641|PMID:19287194|PMID:20505683|PMID:22551898|PMID:23935525|PMID:25741868|PMID:28492532|PMID:28728877|PMID:29079200|PMID:29770213|PMID:30386727 10052969 CV195595 NM_000719.7(CACNA1C):c.1113+4C>T variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17576681|PMID:28492532|PMID:9536098 10052983 CV195617 NM_000245.4(MET):c.1932C>T (p.His644=) variant HP:0005584 Renal cell carcinoma IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:28492532 10053038 CV195695 NM_005957.5(MTHFR):c.1064C>T (p.Pro355Leu) variant HP:0100753 Schizophrenia IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:25741868 10053045 CV195704 NM_006516.4(SLC2A1):c.972+7del variant HP:0001332 Dystonia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Dystonic movements PMID:28492532 10053075 CV195744 NM_020975.6(RET):c.1300A>G (p.Ser434Gly) variant HP:0002666 Pheochromocytoma IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:25741868|PMID:28492532 10053095 CV195775 NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10053100 CV195783 NM_173660.5(DOK7):c.1305C>T (p.Gly435=) variant HP:0001989 Fetal akinesia sequence IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia sequence PMID:28492532 10053101 CV195784 NM_173660.5(DOK7):c.1403_1408del (p.Gly468_Pro469del) variant HP:0001989 Fetal akinesia sequence IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fetal akinesia sequence PMID:25741868|PMID:28492532 10053102 CV195785 NM_173660.5(DOK7):c.994C>T (p.Arg332Cys) variant HP:0001989 Fetal akinesia sequence IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia sequence PMID:28492532 10053103 CV195786 NM_173660.5(DOK7):c.1313C>G (p.Thr438Arg) variant HP:0001989 Fetal akinesia sequence IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Fetal akinesia sequence PMID:28492532 10053104 CV195788 NM_173660.5(DOK7):c.918C>T (p.Ala306=) variant HP:0001989 Fetal akinesia sequence IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia sequence PMID:25741868|PMID:28492532 10053105 CV195789 NM_173660.5(DOK7):c.1305C>A (p.Gly435=) variant HP:0001989 Fetal akinesia sequence IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia sequence PMID:28492532 10053108 CV195794 NM_201253.3(CRB1):c.2462C>T (p.Thr821Met) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17964524|PMID:25741868|PMID:27884173|PMID:28492532 10053111 CV195799 NM_004006.3(DMD):c.10128A>G (p.Leu3376=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10053113 CV195801 NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24033266|PMID:25741868|PMID:28492532 10053134 CV195827 NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:23934111|PMID:25741868|PMID:26467025|PMID:26969326|PMID:28492532|PMID:3442652|PMID:35813073 10053156 CV195865 NM_001128178.3(NPHP1):c.771+134G>A variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10053158 CV195870 NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16530715|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25079577|PMID:25079599|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26943801|PMID:27302843|PMID:27848944|PMID:28492532|PMID:29676688|PMID:30476936|PMID:31216405|PMID:31374812|PMID:31831025|PMID:31884617|PMID:33003980|PMID:33776059|PMID:34234304|PMID:36785559 10053158 CV195870 NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) variant HP:0002269 Abnormality of neuronal migration IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Abnormality of neuronal migration PMID:16530715|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25079577|PMID:25079599|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26943801|PMID:27302843|PMID:27848944|PMID:28492532|PMID:29676688|PMID:30476936|PMID:31216405|PMID:31374812|PMID:31831025|PMID:31884617|PMID:33003980|PMID:33776059|PMID:34234304|PMID:36785559 10053164 CV195880 NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20029649|PMID:22328824|PMID:25681002|PMID:25741868|PMID:26780318|PMID:28492532|PMID:29555955|PMID:29925512|PMID:30060493|PMID:31456290|PMID:31816670 10053166 CV195885 NM_000390.4(CHM):c.957A>G (p.Thr319=) variant HP:0001139 Choroideremia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Choroideremia PMID:28492532 10053176 CV195900 NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:25741868|PMID:25851414|PMID:28492532|PMID:30274917|PMID:35460704 10053177 CV195901 NM_000532.5(PCCB):c.877G>A (p.Asp293Asn) variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:25741868|PMID:28492532 10053184 CV195911 NM_001127644.2(GABRA1):c.612C>T (p.Arg204=) variant HP:0002197 Generalized-onset seizure IAGP H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Generalised epilepsy PMID:28492532 10053199 CV195931 NM_001298.3(CNGA3):c.740C>T (p.Thr247Met) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24903488|PMID:25741868|PMID:28492532 10053199 CV195931 NM_001298.3(CNGA3):c.740C>T (p.Thr247Met) variant HP:0007803 Monochromacy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Colorblindness, total PMID:24903488|PMID:25741868|PMID:28492532 10053212 CV195948 NM_004006.3(DMD):c.733A>G (p.Ile245Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10053217 CV195955 NM_004385.5(VCAN):c.4546A>G (p.Lys1516Glu) variant HP:0007773 Vitreoretinopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Vitreoretinal abnormality PMID:28492532 10053218 CV195956 NM_004385.5(VCAN):c.6767T>C (p.Leu2256Pro) variant HP:0007773 Vitreoretinopathy IAGP H RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Vitreoretinal degeneration PMID:25741868|PMID:28492532 10053219 CV195961 NM_004385.5(VCAN):c.6902T>G (p.Phe2301Cys) variant HP:0007773 Vitreoretinopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Vitreoretinal abnormality PMID:28492532 10053240 CV195994 NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12955714|PMID:17603484|PMID:18060660|PMID:20301750|PMID:20738327|PMID:25741868|PMID:26969326|PMID:28492532|PMID:30311386|PMID:33046911|PMID:33879153|PMID:34426522|PMID:34837038 10053240 CV195994 NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr) variant HP:0005978 Type II diabetes mellitus IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:12955714|PMID:17603484|PMID:18060660|PMID:20301750|PMID:20738327|PMID:25741868|PMID:26969326|PMID:28492532|PMID:30311386|PMID:33046911|PMID:33879153|PMID:34426522|PMID:34837038 10053254 CV196012 NM_012469.4(PRPF6):c.891C>T (p.Leu297=) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10053258 CV196017 NM_014425.5(INVS):c.913G>A (p.Val305Ile) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10053260 CV196019 NM_014476.6(PDLIM3):c.1027A>G (p.Thr343Ala) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10053266 CV196029 NM_015102.5(NPHP4):c.945G>A (p.Thr315=) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10053275 CV196042 NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10053280 CV196048 NM_018100.4(EFHC1):c.1306C>T (p.Arg436Cys) variant HP:0002121 Generalized non-motor (absence) seizure IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Absence seizure PMID:28370826|PMID:28492532 10053295 CV196071 NM_024753.5(TTC21B):c.796-3T>C variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:17576681|PMID:28492532|PMID:9536098 10053300 CV196078 NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Nonprogressive mental retardation PMID:21901791|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 10053332 CV196116 NM_001377.3(DYNC2H1):c.12082G>T (p.Gly4028Cys) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10053335 CV196121 NM_000540.3(RYR1):c.11811G>A (p.Ser3937=) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:25741868|PMID:28492532 10053359 CV196152 NM_000096.4(CP):c.1632A>T (p.Glu544Asp) variant HP:0025498 Aceruloplasminemia IAGP H RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Aceruloplasminaemia PMID:25741868|PMID:28492532 10053369 CV196169 NM_000310.4(PPT1):c.904A>G (p.Ile302Val) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Nonprogressive mental retardation PMID:25741868|PMID:28492532 10053375 CV196179 NM_001278116.2(L1CAM):c.1002C>T (p.Tyr334=) variant HP:0001258 Spastic paraplegia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 10053377 CV196182 NM_000440.3(PDE6A):c.1214A>G (p.Asn405Ser) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10053389 CV196196 NM_000719.7(CACNA1C):c.1385G>A (p.Arg462Gln) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10053396 CV196206 NM_001023570.4(IQCB1):c.814C>G (p.Gln272Glu) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10053421 CV196242 NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) variant HP:0001320 Cerebellar vermis hypoplasia IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebellar vermis hypoplasia PMID:25533962|PMID:25741868|PMID:26865513|PMID:28492532|PMID:29761117|PMID:31474318 10053421 CV196242 NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) variant HP:0001321 Cerebellar hypoplasia IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25533962|PMID:25741868|PMID:26865513|PMID:28492532|PMID:29761117|PMID:31474318 10053439 CV196267 NM_005506.4(SCARB2):c.1136C>T (p.Ala379Val) variant HP:0002123 Generalized myoclonic seizure IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:25741868|PMID:28492532 10053441 CV196270 NM_170707.4(LMNA):c.1551G>A (p.Gln517=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:17377071|PMID:18414213|PMID:18549403|PMID:19638735|PMID:24001739|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10053441 CV196270 NM_170707.4(LMNA):c.1551G>A (p.Gln517=) variant HP:0001644 Dilated cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE PMID:17377071|PMID:18414213|PMID:18549403|PMID:19638735|PMID:24001739|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10053442 CV196271 NM_005592.4(MUSK):c.929A>C (p.Gln310Pro) variant HP:0001989 Fetal akinesia sequence IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia sequence PMID:28492532 10053456 CV196294 NM_015102.5(NPHP4):c.1089G>T (p.Val363=) variant HP:0000090 Nephronophthisis IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10053459 CV196298 NM_015404.4(WHRN):c.1943C>A (p.Ser648Tyr) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20352026|PMID:22277662|PMID:25741868|PMID:26969326|PMID:28492532 10053488 CV196335 NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) variant HP:0009059 Congenital generalized lipodystrophy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital generalized lipodystrophy PMID:25741868|PMID:26467025|PMID:28492532 10053511 CV196371 NM_000540.3(RYR1):c.13142C>G (p.Ala4381Gly) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:28492532 10053512 CV196372 NM_000540.3(RYR1):c.13271A>C (p.Glu4424Ala) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:25741868|PMID:28492532 10053513 CV196374 NM_000540.3(RYR1):c.13044G>A (p.Ala4348=) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:25741868|PMID:28492532 10053515 CV196376 NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:25741868|PMID:28492532 10053523 CV196386 NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Nonprogressive mental retardation PMID:25741868|PMID:26467025|PMID:28492532|PMID:31692161 10053524 CV196388 NM_000540.3(RYR1):c.13680T>C (p.Phe4560=) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:25741868|PMID:28492532 10053535 CV196407 NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:21118704|PMID:24433488|PMID:25741868|PMID:26467025|PMID:28492532 10053539 CV196411 NM_001267550.2(TTN):c.29219A>G (p.Asn9740Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10054143 OPN1MW3 opsin 1, medium wave sensitive 3 gene HP:0000717 Autism IAGP RGD:14351525 H RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10054143 OPN1MW3 opsin 1, medium wave sensitive 3 gene HP:0001744 Splenomegaly IAGP RGD:152981171 H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 10054143 OPN1MW3 opsin 1, medium wave sensitive 3 gene HP:0004313 Decreased circulating antibody concentration IAGP RGD:152981171 H RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Decreased antibody level in blood PMID:25741868 10054337 MNX1-AS2 MNX1 antisense RNA 2 gene HP:0000717 Autism IAGP RGD:14351950 H RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10054344 DANT2 DXZ4 associated non-coding transcript 2, distal gene HP:0000717 Autism IAGP RGD:14351525 H RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10054370 DANT1 DXZ4 associated non-coding transcript 1, proximal gene HP:0000717 Autism IAGP RGD:14351525 H RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10054577 CV200756 Single allele variant HP:0000717 Autism IAGP H RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Autism 10054580 CV200757 Single allele variant HP:0000717 Autism IAGP H RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Autism 10054586 CV187802 NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter) variant HP:0001250 Seizure IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizures PMID:12083760|PMID:17347258|PMID:18076640|PMID:18930999|PMID:21868258|PMID:23195492|PMID:25741868|PMID:26096185|PMID:28492532|PMID:29852413 10054601 CV187772 NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) variant HP:0001250 Seizure IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizures PMID:12566275|PMID:17347258|PMID:18930999|PMID:23195492|PMID:23934111|PMID:24168886|PMID:25741868|PMID:26096185|PMID:26232052|PMID:26467025|PMID:28492532|PMID:29186148 10054653 CV187723 NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs) variant HP:0200134 Epileptic encephalopathy IAGP H RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:11359211|PMID:14504318|PMID:17054684|PMID:18930999|PMID:21719429|PMID:25741868|PMID:26096185|PMID:26993267|PMID:28492532|PMID:32581362 10054672 CV187768 NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Nonprogressive mental retardation PMID:25741868|PMID:26096185 10054702 CV187842 NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter) variant HP:0001250 Seizure IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizures PMID:17054684|PMID:17347258|PMID:18930999|PMID:23808377|PMID:25741868|PMID:26096185|PMID:27465585|PMID:28492532 10054787 CV196498 NM_000069.3(CACNA1S):c.2047C>T (p.Arg683Cys) variant HP:0034733 Anesthesic-triggered malignant hyperthermia IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Anesthesic-triggered malignant hyperthermia PMID:24195946|PMID:25741868|PMID:26467025|PMID:28326467|PMID:28492532 10054852 CV197956 NM_024422.6(DSC2):c.371A>G (p.His124Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054853 CV197952 NM_024422.6(DSC2):c.631-13dup variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054854 CV197944 NM_024422.6(DSC2):c.1510A>G (p.Ser504Gly) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054855 CV197940 NM_024422.6(DSC2):c.2033C>T (p.Thr678Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054856 CV197961 NM_024422.6(DSC2):c.23G>T (p.Gly8Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:24704780|PMID:25741868|PMID:28492532|PMID:29970176|PMID:30847666|PMID:32009526|PMID:35470680 10054857 CV197960 NM_024422.6(DSC2):c.26C>G (p.Ser9Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10054860 CV197953 NM_024422.4(DSC2):c.604G>A (p.Asp202Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 10054861 CV197951 NM_024422.6(DSC2):c.745A>C (p.Thr249Pro) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054862 CV197950 NM_024422.6(DSC2):c.901A>G (p.Thr301Ala) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054863 CV197949 NM_024422.6(DSC2):c.994T>C (p.Tyr332His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10054864 CV197947 NM_024422.6(DSC2):c.1231A>G (p.Lys411Glu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054866 CV197943 NM_024422.6(DSC2):c.1521-13T>A variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10054869 CV197937 NM_024422.6(DSC2):c.2245A>C (p.Lys749Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:30122538 10054870 CV197936 NM_024422.6(DSC2):c.2298G>C (p.Gln766His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:25819062|PMID:28492532|PMID:30847666 10054871 CV197935 NM_024422.6(DSC2):c.2318G>C (p.Gly773Ala) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054873 CV197929 NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:21636032|PMID:24033266|PMID:25516398|PMID:25741868|PMID:28492532 10054874 CV197962 NM_024422.6(DSC2):c.4G>A (p.Glu2Lys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:20864495|PMID:25741868|PMID:26264440|PMID:28471438|PMID:28492532 10054875 CV197959 NM_024422.6(DSC2):c.34G>A (p.Gly12Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:21636032|PMID:25351510|PMID:25741868|PMID:28492532 10054876 CV197939 NM_024422.6(DSC2):c.2125+1del variant HP:0001644 Dilated cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE PMID:16199547|PMID:23911551|PMID:24033266|PMID:25741868|PMID:28153106|PMID:28492532|PMID:31931689|PMID:33662488 10054879 CV197957 NM_024422.6(DSC2):c.370C>T (p.His124Tyr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10054880 CV197948 NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054881 CV197946 NM_024422.6(DSC2):c.1276G>A (p.Glu426Lys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24585727|PMID:25741868|PMID:25820315|PMID:28588093 10054882 CV197941 NM_024422.6(DSC2):c.1789G>T (p.Val597Phe) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25447171|PMID:25741868|PMID:28492532 10054883 CV197931 NM_024422.6(DSC2):c.2576A>G (p.Tyr859Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054890 CV198002 NM_001943.5(DSG2):c.2750C>T (p.Ala917Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054891 CV198004 NM_001943.5(DSG2):c.2880C>G (p.Ser960Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054892 CV198008 NM_001943.5(DSG2):c.3118G>A (p.Val1040Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:27135274|PMID:28492532|PMID:29178656 10054893 CV197964 NM_001943.5(DSG2):c.98A>G (p.Asn33Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:27532257|PMID:28492532|PMID:31983221 10054895 CV197966 NM_001943.5(DSG2):c.216+3A>C variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10054896 CV197967 NM_001943.5(DSG2):c.220C>A (p.His74Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10054901 CV197976 NM_001943.5(DSG2):c.880A>G (p.Lys294Glu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:16505173|PMID:23071725|PMID:24033266|PMID:24070718|PMID:25741868|PMID:26138720|PMID:26272908|PMID:28492532|PMID:30847666|PMID:30885746|PMID:33762593|PMID:34036930 10054902 CV197977 NM_001943.5(DSG2):c.889G>A (p.Asp297Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:20031616|PMID:20857253|PMID:21606396|PMID:25741868|PMID:25820315|PMID:28492532|PMID:28588093|PMID:30847666 10054903 CV197979 NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:21606396|PMID:21636032|PMID:23178689|PMID:23889974|PMID:25741868|PMID:25820315|PMID:28492532|PMID:29016939|PMID:34998950 10054905 CV197981 NM_001943.5(DSG2):c.1195G>A (p.Glu399Lys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:32826072 10054906 CV197983 NM_001943.5(DSG2):c.1481A>C (p.Asp494Ala) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23514727|PMID:25741868|PMID:28492532|PMID:29178656|PMID:30996762 10054909 CV197987 NM_001943.5(DSG2):c.1795T>C (p.Cys599Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054910 CV197989 NM_001943.5(DSG2):c.1843A>G (p.Ile615Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054911 CV197990 NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23071725|PMID:25741868|PMID:28492532|PMID:29773157|PMID:30847666|PMID:31983221|PMID:32826072|PMID:33652588 10054912 CV197991 NM_001943.5(DSG2):c.1959G>A (p.Met653Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054914 CV197997 NM_001943.5(DSG2):c.2399C>G (p.Ser800Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:28588093 10054915 CV197998 NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:16773573|PMID:20031617|PMID:20708101|PMID:24055113|PMID:25213555|PMID:25741868|PMID:26633542|PMID:27532257|PMID:28454995|PMID:28492532|PMID:28567303|PMID:30615648|PMID:30847666|PMID:32114801|PMID:32516855|PMID:34426522|PMID:36621286 10054915 CV197998 NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16773573|PMID:20031617|PMID:20708101|PMID:24055113|PMID:25213555|PMID:25741868|PMID:26633542|PMID:27532257|PMID:28454995|PMID:28492532|PMID:28567303|PMID:30615648|PMID:30847666|PMID:32114801|PMID:32516855|PMID:34426522|PMID:36621286 10054916 CV198001 NM_001943.5(DSG2):c.2690C>A (p.Ala897Asp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054917 CV198003 NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23514727|PMID:25741868|PMID:27005929|PMID:28492532|PMID:29178656|PMID:29802319 10054918 CV198005 NM_001943.5(DSG2):c.2906C>T (p.Ala969Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25351510|PMID:25741868|PMID:28492532|PMID:29396286|PMID:29606362 10054919 CV198009 NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:18678517|PMID:21606390|PMID:23071725|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26498160|PMID:28492532|PMID:28818065|PMID:31983221 10054922 CV197973 NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:17105751|PMID:19279339|PMID:21606390|PMID:23671136|PMID:25741868|PMID:28492532|PMID:31402444|PMID:33087929 10054923 CV197978 NM_001943.4(DSG2):c.1015del variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:17105751|PMID:25741868|PMID:28492532|PMID:31386562|PMID:31638835|PMID:33087929 10054926 CV197969 NM_001943.5(DSG2):c.562G>A (p.Glu188Lys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054927 CV197974 NM_001943.5(DSG2):c.862G>A (p.Val288Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:30847666|PMID:30985088|PMID:32880476|PMID:37477868 10054930 CV197995 NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054933 CV197020 NM_004415.4(DSP):c.237C>T (p.Ser79=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054934 CV197039 NM_004415.4(DSP):c.1344G>A (p.Leu448=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10054935 CV197060 NM_004415.4(DSP):c.3018A>G (p.Leu1006=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054936 CV197101 NM_004415.4(DSP):c.6192T>C (p.Asn2064=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054941 CV197665 NM_000138.5(FBN1):c.5917+3A>G variant HP:0001083 Ectopia lentis IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Lens dislocation PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10055020 CV197829 NM_000138.5(FBN1):c.139G>A (p.Gly47Ser) variant HP:0000268 Dolichocephaly IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: narrow skull shape PMID:25741868|PMID:28492532 10055020 CV197829 NM_000138.5(FBN1):c.139G>A (p.Gly47Ser) variant HP:0000678 Dental crowding IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Tooth size discrepancy PMID:25741868|PMID:28492532 10055020 CV197829 NM_000138.5(FBN1):c.139G>A (p.Gly47Ser) variant HP:0001166 Arachnodactyly IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long slender fingers PMID:25741868|PMID:28492532 10055020 CV197829 NM_000138.5(FBN1):c.139G>A (p.Gly47Ser) variant HP:0001382 Joint hypermobility IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Flexible joints PMID:25741868|PMID:28492532 10055020 CV197829 NM_000138.5(FBN1):c.139G>A (p.Gly47Ser) variant HP:0001659 Aortic regurgitation IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Aortic valve regurgitation PMID:25741868|PMID:28492532 10055020 CV197829 NM_000138.5(FBN1):c.139G>A (p.Gly47Ser) variant HP:0002705 High, narrow palate IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Narrow, highly arched roof of mouth PMID:25741868|PMID:28492532 10055162 CV197619 NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) variant HP:0012727 Thoracic aortic aneurysm IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic PMID:11826022|PMID:17627385|PMID:17657824|PMID:18435798|PMID:19293843|PMID:19618372|PMID:19863550|PMID:25101912|PMID:25741868|PMID:26272055|PMID:26621581|PMID:27112580|PMID:28492532|PMID:29357934 10055199 CV197340 NM_000238.4(KCNH2):c.342C>T (p.Pro114=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055199 CV197340 NM_000238.4(KCNH2):c.342C>T (p.Pro114=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:25741868|PMID:28492532 10055200 CV197328 NM_000238.4(KCNH2):c.524C>A (p.Ala175Asp) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055201 CV197327 NM_000238.4(KCNH2):c.558C>T (p.Gly186=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26467025|PMID:28492532 10055202 CV197298 NM_000238.4(KCNH2):c.1128+1784C>T variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:26467025|PMID:28566242 10055203 CV197293 NM_000238.4(KCNH2):c.1149C>T (p.Asp383=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055203 CV197293 NM_000238.4(KCNH2):c.1149C>T (p.Asp383=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10055204 CV197282 NM_000238.4(KCNH2):c.1353G>A (p.Pro451=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055204 CV197282 NM_000238.4(KCNH2):c.1353G>A (p.Pro451=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:25741868|PMID:28492532 10055205 CV197272 NM_000238.4(KCNH2):c.1581G>A (p.Ala527=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055205 CV197272 NM_000238.4(KCNH2):c.1581G>A (p.Ala527=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:25741868|PMID:28492532 10055206 CV197266 NM_000238.4(KCNH2):c.1683G>A (p.Ala561=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055206 CV197266 NM_000238.4(KCNH2):c.1683G>A (p.Ala561=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10055207 CV197263 NM_000238.4(KCNH2):c.1692A>G (p.Leu564=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10055207 CV197263 NM_000238.4(KCNH2):c.1692A>G (p.Leu564=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10055208 CV197235 NM_000238.4(KCNH2):c.1956T>C (p.Tyr652=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10807545|PMID:14760488|PMID:17224687|PMID:21063070|PMID:21109023|PMID:21779290|PMID:24033266|PMID:25028483|PMID:25741868|PMID:26467025|PMID:28492532 10055208 CV197235 NM_000238.4(KCNH2):c.1956T>C (p.Tyr652=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:10807545|PMID:14760488|PMID:17224687|PMID:21063070|PMID:21109023|PMID:21779290|PMID:24033266|PMID:25028483|PMID:25741868|PMID:26467025|PMID:28492532 10055211 CV197207 NM_000238.4(KCNH2):c.2398+105del variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:24033266|PMID:25741868 10055213 CV197205 NM_000238.4(KCNH2):c.2398+179G>A variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868 10055214 CV197204 NM_000238.4(KCNH2):c.2398+234C>T variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868 10055215 CV197201 NM_000238.4(KCNH2):c.2454G>A (p.Ser818=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055215 CV197201 NM_000238.4(KCNH2):c.2454G>A (p.Ser818=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:25741868|PMID:28492532 10055216 CV197193 NM_000238.4(KCNH2):c.2607G>A (p.Pro869=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055216 CV197193 NM_000238.4(KCNH2):c.2607G>A (p.Pro869=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10055217 CV197164 NM_000238.4(KCNH2):c.2904G>A (p.Pro968=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055217 CV197164 NM_000238.4(KCNH2):c.2904G>A (p.Pro968=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:25741868|PMID:28492532 10055218 CV197157 NM_000238.4(KCNH2):c.2994C>T (p.Phe998=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055218 CV197157 NM_000238.4(KCNH2):c.2994C>T (p.Phe998=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10055219 CV197150 NM_000238.4(KCNH2):c.3079C>A (p.Leu1027Ile) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055219 CV197150 NM_000238.4(KCNH2):c.3079C>A (p.Leu1027Ile) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10055220 CV197138 NM_000238.4(KCNH2):c.3153-15C>T variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055220 CV197138 NM_000238.4(KCNH2):c.3153-15C>T variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10055221 CV197134 NM_000238.4(KCNH2):c.3331-14del variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055222 CV197132 NM_000238.3(KCNH2):c.3331-14_3331-13delTG variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055223 CV197133 NM_000238.4(KCNH2):c.3331-13del variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055225 CV197130 NM_000238.4(KCNH2):c.3348G>A (p.Ala1116=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055225 CV197130 NM_000238.4(KCNH2):c.3348G>A (p.Ala1116=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10055227 CV197371 NM_000238.4(KCNH2):c.51C>G (p.Thr17=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:18752142|PMID:25741868|PMID:28492532 10055227 CV197371 NM_000238.4(KCNH2):c.51C>G (p.Thr17=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:18752142|PMID:25741868|PMID:28492532 10055228 CV197341 NM_000238.3(KCNH2):c.341C>G (p.Pro114Arg) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055231 CV197335 NM_000238.4(KCNH2):c.387C>G (p.Phe129Leu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055232 CV197334 NM_000238.4(KCNH2):c.398T>C (p.Met133Thr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:32893267 10055232 CV197334 NM_000238.4(KCNH2):c.398T>C (p.Met133Thr) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:32893267 10055233 CV197333 NM_000238.4(KCNH2):c.440A>G (p.His147Arg) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055234 CV197331 NM_000238.4(KCNH2):c.455C>G (p.Thr152Ser) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055234 CV197331 NM_000238.4(KCNH2):c.455C>G (p.Thr152Ser) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10055236 CV197326 NM_000238.4(KCNH2):c.563C>T (p.Ala188Val) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26746457|PMID:28492532 10055237 CV197321 NM_000238.4(KCNH2):c.602C>T (p.Thr201Met) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055239 CV197318 NM_000238.4(KCNH2):c.719C>T (p.Pro240Leu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055241 CV197312 NM_000238.4(KCNH2):c.812G>A (p.Arg271His) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055242 CV197308 NM_000238.4(KCNH2):c.868G>C (p.Ala290Pro) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055244 CV197304 NM_000238.4(KCNH2):c.959C>G (p.Ser320Trp) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23631430|PMID:25741868|PMID:28492532|PMID:32893267 10055244 CV197304 NM_000238.4(KCNH2):c.959C>G (p.Ser320Trp) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23631430|PMID:25741868|PMID:28492532|PMID:32893267 10055245 CV197303 NM_000238.4(KCNH2):c.983G>A (p.Arg328His) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055245 CV197303 NM_000238.4(KCNH2):c.983G>A (p.Arg328His) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10055246 CV197301 NM_000238.4(KCNH2):c.1043T>A (p.Phe348Tyr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055247 CV197300 NM_000238.4(KCNH2):c.1096C>T (p.Arg366Ter) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:11468227|PMID:15840476|PMID:18808722|PMID:19038855|PMID:19862833|PMID:23158531|PMID:24606995|PMID:25741868|PMID:28492532|PMID:29020304|PMID:36102233 10055248 CV197299 NM_000238.4(KCNH2):c.1128G>A (p.Gln376=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10753933|PMID:10973849|PMID:11854117|PMID:15840476|PMID:17576681|PMID:19038855|PMID:19716085|PMID:19841300|PMID:20301308|PMID:21777565|PMID:23631430|PMID:25294783|PMID:255267|PMID:25741868|PMID:25929701|PMID:26066609|PMID:28492532|PMID:28794082|PMID:32893267|PMID:34135346|PMID:34319147|PMID:36102233|PMID:36197721|PMID:9536098 10055248 CV197299 NM_000238.4(KCNH2):c.1128G>A (p.Gln376=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10753933|PMID:10973849|PMID:11854117|PMID:15840476|PMID:17576681|PMID:19038855|PMID:19716085|PMID:19841300|PMID:20301308|PMID:21777565|PMID:23631430|PMID:25294783|PMID:255267|PMID:25741868|PMID:25929701|PMID:26066609|PMID:28492532|PMID:28794082|PMID:32893267|PMID:34135346|PMID:34319147|PMID:36102233|PMID:36197721|PMID:9536098 10055249 CV197297 NM_000238.4(KCNH2):c.1129-2A>G variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16199547|PMID:19862833|PMID:26669661|PMID:28492532 10055250 CV197291 NM_000238.4(KCNH2):c.1193G>A (p.Trp398Ter) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19716085|PMID:19862833|PMID:28492532 10055253 CV197287 NM_000238.4(KCNH2):c.1282T>C (p.Ser428Pro) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23631430|PMID:25741868 10055254 CV197283 NM_000238.4(KCNH2):c.1330G>T (p.Glu444Ter) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:23631430|PMID:28492532 10055255 CV197281 NM_000238.4(KCNH2):c.1415G>C (p.Arg472Pro) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055256 CV197279 NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10753933|PMID:20301308|PMID:21777565|PMID:22764740|PMID:25741868|PMID:25947924|PMID:26467025|PMID:26746457|PMID:28492532|PMID:28606196|PMID:28704380|PMID:29192238|PMID:30327538|PMID:31696929|PMID:35688147 10055256 CV197279 NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10753933|PMID:20301308|PMID:21777565|PMID:22764740|PMID:25741868|PMID:25947924|PMID:26467025|PMID:26746457|PMID:28492532|PMID:28606196|PMID:28704380|PMID:29192238|PMID:30327538|PMID:31696929|PMID:35688147 10055257 CV197278 NM_000238.4(KCNH2):c.1471G>A (p.Val491Ile) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23631430|PMID:25741868|PMID:26066609|PMID:28492532 10055257 CV197278 NM_000238.4(KCNH2):c.1471G>A (p.Val491Ile) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:23631430|PMID:25741868|PMID:26066609|PMID:28492532 10055258 CV197277 NM_000238.4(KCNH2):c.1496T>G (p.Leu499Arg) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:18004376|PMID:19843919|PMID:25417810|PMID:2563738|PMID:28492532 10055261 CV197273 NM_000238.4(KCNH2):c.1525G>A (p.Asp509Asn) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23631430|PMID:25741868|PMID:28492532|PMID:31737537|PMID:32893267|PMID:34546463|PMID:35911527|PMID:805146 10055261 CV197273 NM_000238.4(KCNH2):c.1525G>A (p.Asp509Asn) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23631430|PMID:25741868|PMID:28492532|PMID:31737537|PMID:32893267|PMID:34546463|PMID:35911527|PMID:805146 10055262 CV197271 NM_000238.4(KCNH2):c.1583G>A (p.Arg528Gln) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:15181157|PMID:28492532 10055269 CV197258 NM_000238.4(KCNH2):c.1733A>C (p.His578Pro) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10565858|PMID:25741868|PMID:32893267 10055271 CV197248 NM_000238.4(KCNH2):c.1904A>G (p.Asn635Ser) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19841300|PMID:22949429|PMID:28492532 10055273 CV197244 NM_000238.4(KCNH2):c.1916T>A (p.Ile639Asn) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055274 CV197240 NM_000238.4(KCNH2):c.1945+6T>C variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:15364333|PMID:17576681|PMID:28492532|PMID:9536098 10055275 CV197236 NM_000238.4(KCNH2):c.1956T>A (p.Tyr652Ter) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055276 CV197234 NM_000238.4(KCNH2):c.2026C>T (p.Gln676Ter) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:26669661|PMID:28492532 10055277 CV197230 NM_000238.4(KCNH2):c.2104C>T (p.Gln702Ter) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868 10055278 CV197232 NM_000238.4(KCNH2):c.2081G>A (p.Arg694His) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23207121|PMID:28492532 10055279 CV197228 NM_000238.4(KCNH2):c.2144C>T (p.Ala715Val) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23174487|PMID:24033266|PMID:25741868|PMID:26958806|PMID:28492532 10055279 CV197228 NM_000238.4(KCNH2):c.2144C>T (p.Ala715Val) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:23174487|PMID:24033266|PMID:25741868|PMID:26958806|PMID:28492532 10055280 CV197227 NM_000238.4(KCNH2):c.2145G>A (p.Ala715=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:15840476|PMID:17576681|PMID:19716085|PMID:19841300|PMID:23124029|PMID:23382499|PMID:23995044|PMID:25741868|PMID:28492532|PMID:32893267|PMID:36138163|PMID:36197721|PMID:543451|PMID:9536098 10055280 CV197227 NM_000238.4(KCNH2):c.2145G>A (p.Ala715=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:15840476|PMID:17576681|PMID:19716085|PMID:19841300|PMID:23124029|PMID:23382499|PMID:23995044|PMID:25741868|PMID:28492532|PMID:32893267|PMID:36138163|PMID:36197721|PMID:543451|PMID:9536098 10055281 CV197225 NM_000238.4(KCNH2):c.2192A>C (p.His731Pro) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26669661|PMID:28492532 10055284 CV197220 NM_000238.4(KCNH2):c.2360T>A (p.Ile787Asn) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055285 CV197219 NM_000238.4(KCNH2):c.2366T>C (p.Ile789Thr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:21440677|PMID:23174487|PMID:26958806|PMID:28492532 10055286 CV197218 NM_000238.4(KCNH2):c.2380G>A (p.Val794Ile) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:31696929 10055286 CV197218 NM_000238.4(KCNH2):c.2380G>A (p.Val794Ile) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:31696929 10055287 CV197217 NM_000238.4(KCNH2):c.2386G>A (p.Val796Met) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055288 CV197216 NM_000238.4(KCNH2):c.2386G>C (p.Val796Leu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055292 CV197211 NM_000238.4(KCNH2):c.2398+5G>T variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:15840476|PMID:17576681|PMID:19716085|PMID:19841300|PMID:22677073|PMID:24103226|PMID:28492532|PMID:36197721|PMID:9536098 10055298 CV197197 NM_000238.4(KCNH2):c.2504G>A (p.Arg835Gln) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25140878|PMID:25741868|PMID:28492532|PMID:29247119|PMID:30847666 10055301 CV197194 NM_000238.4(KCNH2):c.2606C>T (p.Pro869Leu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:29255176|PMID:31696929 10055301 CV197194 NM_000238.4(KCNH2):c.2606C>T (p.Pro869Leu) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:29255176|PMID:31696929 10055302 CV197192 NM_000238.4(KCNH2):c.2665T>G (p.Leu889Val) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055302 CV197192 NM_000238.4(KCNH2):c.2665T>G (p.Leu889Val) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10055303 CV197190 NM_000238.4(KCNH2):c.2690A>T (p.Lys897Met) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055303 CV197190 NM_000238.4(KCNH2):c.2690A>T (p.Lys897Met) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10055305 CV197187 NM_000238.4(KCNH2):c.2719G>A (p.Ala907Thr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055306 CV197181 NM_000238.4(KCNH2):c.2758C>G (p.Arg920Gly) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:30847666 10055306 CV197181 NM_000238.4(KCNH2):c.2758C>G (p.Arg920Gly) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:30847666 10055307 CV197178 NM_000238.4(KCNH2):c.2770G>A (p.Gly924Arg) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19716085|PMID:23338923|PMID:25741868|PMID:26746457|PMID:28492532 10055308 CV197177 NM_000238.4(KCNH2):c.2774G>C (p.Gly925Ala) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055309 CV197176 NM_000238.4(KCNH2):c.2774G>T (p.Gly925Val) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:15840476|PMID:25741868|PMID:28492532|PMID:32893267 10055309 CV197176 NM_000238.4(KCNH2):c.2774G>T (p.Gly925Val) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:15840476|PMID:25741868|PMID:28492532|PMID:32893267 10055310 CV197173 NM_000238.4(KCNH2):c.2780G>A (p.Trp927Ter) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19716085|PMID:19862833|PMID:23158531|PMID:28492532 10055311 CV197172 NM_000238.4(KCNH2):c.2780G>T (p.Trp927Leu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055311 CV197172 NM_000238.4(KCNH2):c.2780G>T (p.Trp927Leu) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:25741868|PMID:28492532 10055312 CV197170 NM_000238.4(KCNH2):c.2788A>C (p.Ser930Arg) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055314 CV197156 NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:17576861|PMID:19716085|PMID:19862833|PMID:20850565|PMID:25741868|PMID:26669661|PMID:26846766|PMID:28492532 10055314 CV197156 NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10973849|PMID:17576861|PMID:19716085|PMID:19862833|PMID:20850565|PMID:25741868|PMID:26669661|PMID:26846766|PMID:28492532 10055315 CV197155 NM_000238.4(KCNH2):c.3007G>T (p.Asp1003Tyr) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868 10055316 CV197153 NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10753933|PMID:10973849|PMID:14642687|PMID:15572053|PMID:17576861|PMID:19862833|PMID:20301308|PMID:21777565|PMID:23631430|PMID:25741868|PMID:28492532|PMID:30847666|PMID:32383558 10055317 CV197152 NM_000238.4(KCNH2):c.3052C>G (p.Pro1018Ala) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:28798025|PMID:29517769|PMID:30276209|PMID:30847666 10055317 CV197152 NM_000238.4(KCNH2):c.3052C>G (p.Pro1018Ala) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:28798025|PMID:29517769|PMID:30276209|PMID:30847666 10055318 CV197149 NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16414944|PMID:19716085|PMID:19926013|PMID:20541041|PMID:22581653|PMID:25741868|PMID:28492532|PMID:28704380|PMID:29925740|PMID:30530868|PMID:31696929|PMID:32508047|PMID:33764691 10055318 CV197149 NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10973849|PMID:16414944|PMID:19716085|PMID:19926013|PMID:20541041|PMID:22581653|PMID:25741868|PMID:28492532|PMID:28704380|PMID:29925740|PMID:30530868|PMID:31696929|PMID:32508047|PMID:33764691 10055319 CV197141 NM_000238.4(KCNH2):c.3119G>A (p.Ser1040Asn) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055320 CV197137 NM_000238.4(KCNH2):c.3247A>G (p.Thr1083Ala) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055320 CV197137 NM_000238.4(KCNH2):c.3247A>G (p.Thr1083Ala) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10055321 CV197135 NM_000238.4(KCNH2):c.3305C>T (p.Thr1102Ile) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055321 CV197135 NM_000238.4(KCNH2):c.3305C>T (p.Thr1102Ile) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10055322 CV197129 NM_000238.4(KCNH2):c.3365C>T (p.Pro1122Leu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055322 CV197129 NM_000238.4(KCNH2):c.3365C>T (p.Pro1122Leu) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10055323 CV197369 NM_000238.4(KCNH2):c.77-1G>A variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16199547|PMID:19862833|PMID:28492532 10055324 CV197368 NM_000238.4(KCNH2):c.80G>A (p.Arg27His) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:32893267 10055326 CV197363 NM_000238.4(KCNH2):c.125T>C (p.Ile42Thr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17905336|PMID:25417810|PMID:28492532|PMID:31557540|PMID:32475984 10055327 CV197362 NM_000238.3(KCNH2):c.133A>G (p.Asn45Asp) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055328 CV197361 NM_000238.4(KCNH2):c.136G>A (p.Asp46Asn) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17905336|PMID:28492532|PMID:30244407 10055331 CV197356 NM_000238.4(KCNH2):c.167G>T (p.Arg56Leu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:11854117|PMID:28492532 10055332 CV197354 NM_000238.4(KCNH2):c.188C>A (p.Pro63His) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23631430|PMID:25741868|PMID:28492532 10055333 CV197353 NM_000238.4(KCNH2):c.214C>T (p.Pro72Ser) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19716085|PMID:21440677|PMID:23158531|PMID:25417810|PMID:25741868|PMID:28492532|PMID:30847666|PMID:32475984 10055334 CV197351 NM_000238.3(KCNH2):c.247G>C (p.Ala83Pro) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055335 CV197349 NM_000238.3(KCNH2):c.266C>T (p.Ala89Val) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055336 CV197348 NM_000238.4(KCNH2):c.274C>T (p.Arg92Cys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055336 CV197348 NM_000238.4(KCNH2):c.274C>T (p.Arg92Cys) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:25741868|PMID:28492532 10055337 CV197347 NM_000238.4(KCNH2):c.275G>T (p.Arg92Leu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868 10055338 CV197346 NM_000238.4(KCNH2):c.284A>C (p.Glu95Ala) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23098067|PMID:28492532 10055342 CV197373 NM_000238.4(KCNH2):c.31C>T (p.Gln11Ter) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055344 CV197374 NM_000238.4(KCNH2):c.26C>T (p.Ala9Val) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26746457|PMID:28492532|PMID:32893267 10055344 CV197374 NM_000238.4(KCNH2):c.26C>T (p.Ala9Val) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:26746457|PMID:28492532|PMID:32893267 10055347 CV197332 NM_000238.4(KCNH2):c.453del (p.Thr152fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10483966|PMID:10862094|PMID:10973849|PMID:15176425|PMID:19862833|PMID:23098067|PMID:24015048|PMID:24606995|PMID:26063740|PMID:28492532|PMID:29622001 10055349 CV197323 NM_000238.4(KCNH2):c.565_568del (p.Gly189fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055351 CV197311 NM_000238.4(KCNH2):c.826del (p.Cys276fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:22677073|PMID:23631430|PMID:28492532 10055352 CV197322 NM_000238.4(KCNH2):c.572del (p.Pro191fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:26496715|PMID:28492532 10055354 CV197315 NM_000238.4(KCNH2):c.735_754dup (p.Arg252fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19862833|PMID:28492532 10055354 CV197315 NM_000238.4(KCNH2):c.735_754dup (p.Arg252fs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:19862833|PMID:28492532 10055356 CV197309 NM_000238.4(KCNH2):c.850_868del (p.Ser284fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055357 CV197310 NM_000238.4(KCNH2):c.853_859del (p.Ala285fs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055358 CV197306 NM_000238.4(KCNH2):c.885del (p.Leu296fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055363 CV197290 NM_000238.4(KCNH2):c.1201_1204dup (p.His402fs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055367 CV197274 NM_000238.3(KCNH2):c.1498_1524del27 (p.Ile500_Phe508del) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:7889573 10055369 CV197260 NM_000238.4(KCNH2):c.1701del (p.Trp568fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16414944|PMID:19862833|PMID:28492532 10055370 CV197247 NM_000238.3(KCNH2):c.1911_1912delGA (p.Lys638Aspfs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055378 CV197185 NM_000238.4(KCNH2):c.2724_2728dup (p.Pro910fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:25741868|PMID:28492532|PMID:34319147 10055381 CV197183 NM_000238.3(KCNH2):c.2731_2732dupGG (p.Arg912Alafs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055384 CV197175 NM_000238.4(KCNH2):c.2775dup (p.Pro926fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16922724|PMID:19862833|PMID:20181576|PMID:21419236|PMID:25741868|PMID:26669661|PMID:27000522|PMID:28492532|PMID:30369311|PMID:32383558 10055384 CV197175 NM_000238.4(KCNH2):c.2775dup (p.Pro926fs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10973849|PMID:16922724|PMID:19862833|PMID:20181576|PMID:21419236|PMID:25741868|PMID:26669661|PMID:27000522|PMID:28492532|PMID:30369311|PMID:32383558 10055385 CV197174 NM_000238.4(KCNH2):c.2777del (p.Pro926fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055385 CV197174 NM_000238.4(KCNH2):c.2777del (p.Pro926fs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10973849|PMID:19862833|PMID:28492532 10055386 CV197169 NM_000238.4(KCNH2):c.2783_2789del (p.Gly928fs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055387 CV197171 NM_000238.4(KCNH2):c.2785dup (p.Glu929fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:15840476|PMID:19862833|PMID:25741868|PMID:28492532|PMID:29555771 10055387 CV197171 NM_000238.4(KCNH2):c.2785dup (p.Glu929fs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:15840476|PMID:19862833|PMID:25741868|PMID:28492532|PMID:29555771 10055391 CV197165 NM_000238.4(KCNH2):c.2892dup (p.Gly965fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10086971|PMID:19716085|PMID:28492532|PMID:29497013 10055393 CV197158 NM_000238.4(KCNH2):c.2966-2_2967dup variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:27920829|PMID:28492532 10055393 CV197158 NM_000238.4(KCNH2):c.2966-2_2967dup variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:27920829|PMID:28492532 10055394 CV197159 NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10753933|PMID:10973849|PMID:19716085|PMID:19862833|PMID:20301308|PMID:21777565|PMID:23098067|PMID:25741868|PMID:26669661|PMID:26715165|PMID:28492532|PMID:28861002|PMID:32893267 10055394 CV197159 NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10753933|PMID:10973849|PMID:19716085|PMID:19862833|PMID:20301308|PMID:21777565|PMID:23098067|PMID:25741868|PMID:26669661|PMID:26715165|PMID:28492532|PMID:28861002|PMID:32893267 10055395 CV197151 NM_000238.4(KCNH2):c.3079dup (p.Leu1027fs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055396 CV197143 NM_000238.4(KCNH2):c.3099_3109del (p.Pro1034fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:15572050|PMID:21483829|PMID:27920829|PMID:28492532 10055397 CV197148 NM_000238.4(KCNH2):c.3096_3099dup (p.Pro1034fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19716085|PMID:19841300|PMID:19862833|PMID:21483829|PMID:25741868|PMID:28492532 10055397 CV197148 NM_000238.4(KCNH2):c.3096_3099dup (p.Pro1034fs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:19716085|PMID:19841300|PMID:19862833|PMID:21483829|PMID:25741868|PMID:28492532 10055398 CV197147 NM_000238.4(KCNH2):c.3103del (p.Arg1035fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:15840476|PMID:19862833|PMID:21063070|PMID:28492532 10055400 CV197142 NM_000238.4(KCNH2):c.3105_3112dup (p.Val1038fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055400 CV197142 NM_000238.4(KCNH2):c.3105_3112dup (p.Val1038fs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10973849|PMID:19862833|PMID:28492532 10055402 CV197139 NM_000238.4(KCNH2):c.3136del (p.Gln1046fs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055403 CV197136 NM_000238.4(KCNH2):c.3251dup (p.Pro1086fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:27920829|PMID:28492532 10055405 CV197367 NM_000238.4(KCNH2):c.81dup (p.Lys28Ter) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055406 CV197350 NM_000238.4(KCNH2):c.244_252dup (p.Gln84_Ala85insIleAlaGln) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:11468227|PMID:23098067|PMID:28492532 10055406 CV197350 NM_000238.4(KCNH2):c.244_252dup (p.Gln84_Ala85insIleAlaGln) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:11468227|PMID:23098067|PMID:28492532 10055407 CV197330 NM_000238.3(KCNH2):c.472+1G>C variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055408 CV197296 NM_000238.4(KCNH2):c.1129-1G>A variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16199547|PMID:19862833|PMID:26669661|PMID:28492532 10055410 CV197270 NM_000238.4(KCNH2):c.1600C>A (p.Arg534Ser) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10690305|PMID:16432067|PMID:28492532|PMID:9600240 10055412 CV197265 NM_000238.4(KCNH2):c.1684C>T (p.His562Tyr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:12407082|PMID:15242738|PMID:16432067|PMID:18004376|PMID:22949429|PMID:25417810|PMID:25819988|PMID:28492532 10055414 CV197257 NM_000238.4(KCNH2):c.1742C>A (p.Ser581Ter) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19716085|PMID:19862833|PMID:28492532 10055415 CV197256 NM_000238.4(KCNH2):c.1754G>T (p.Trp585Leu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:25417810|PMID:28492532 10055418 CV197251 NM_000238.4(KCNH2):c.1881C>A (p.Phe627Leu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:11854117|PMID:18848812|PMID:24217263|PMID:24322056|PMID:25417810|PMID:28492532 10055421 CV197242 NM_000238.4(KCNH2):c.1943G>A (p.Gly648Asp) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055423 CV197239 NM_000238.4(KCNH2):c.1946-2A>C variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16199547|PMID:19862833|PMID:23631430|PMID:28492532 10055424 CV197337 NM_000238.4(KCNH2):c.373_374insGTGG (p.Phe125fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055424 CV197337 NM_000238.4(KCNH2):c.373_374insGTGG (p.Phe125fs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10973849|PMID:19862833|PMID:28492532 10055426 CV197226 NM_000238.4(KCNH2):c.2168G>A (p.Cys723Tyr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868 10055427 CV197224 NM_000238.4(KCNH2):c.2200C>T (p.Arg734Cys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:34495297 10055427 CV197224 NM_000238.4(KCNH2):c.2200C>T (p.Arg734Cys) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:34495297 10055429 CV197357 NM_000238.4(KCNH2):c.156C>A (p.Cys52Ter) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055430 CV197355 NM_000238.4(KCNH2):c.170C>T (p.Ala57Val) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055432 CV197338 NM_000238.3(KCNH2):c.361delG (p.Ala121Leufs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055433 CV197319 NM_000238.4(KCNH2):c.678del (p.Ala228fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:25741868|PMID:28492532 10055434 CV197294 NM_000238.4(KCNH2):c.1142del (p.Gly381fs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055435 CV197286 NM_000238.4(KCNH2):c.1285del (p.Ala429fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055436 CV197253 NM_000238.4(KCNH2):c.1815del (p.Ser606fs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055437 CV197233 NM_000238.4(KCNH2):c.2053del (p.Arg685fs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055440 CV197166 NM_000238.4(KCNH2):c.2857del (p.Leu953fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055441 CV197154 NM_000238.4(KCNH2):c.3017del (p.Gly1006fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:12877697|PMID:15840476|PMID:19862833|PMID:25741868|PMID:28492532 10055442 CV197145 NM_000238.4(KCNH2):c.3107del (p.Gly1036fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:23631430|PMID:28449774|PMID:28492532 10055443 CV197146 NM_000238.4(KCNH2):c.3107dup (p.Asp1037fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10086971|PMID:10973849|PMID:11222472|PMID:15572050|PMID:19716085|PMID:21483829|PMID:23098067|PMID:24530480|PMID:27920829|PMID:28492532 10055444 CV197366 NM_000238.4(KCNH2):c.100del (p.Ala34fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19716085|PMID:19862833|PMID:28492532 10055444 CV197366 NM_000238.4(KCNH2):c.100del (p.Ala34fs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10973849|PMID:19716085|PMID:19862833|PMID:28492532 10055445 CV197365 NM_000238.4(KCNH2):c.106del (p.Val36fs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055446 CV197358 NM_000238.4(KCNH2):c.154del (p.Cys52fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055446 CV197358 NM_000238.4(KCNH2):c.154del (p.Cys52fs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10973849|PMID:19862833|PMID:28492532 10055448 CV197473 NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10807545|PMID:18426444|PMID:20851114|PMID:21779290|PMID:23890619|PMID:24033266|PMID:25741868|PMID:28492532 10055448 CV197473 NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:10807545|PMID:18426444|PMID:20851114|PMID:21779290|PMID:23890619|PMID:24033266|PMID:25741868|PMID:28492532 10055449 CV197488 NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:12402336|PMID:25741868|PMID:28492532 10055449 CV197488 NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:12402336|PMID:25741868|PMID:28492532 10055450 CV197500 NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:18752142|PMID:23174487|PMID:23392653|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29197658 10055450 CV197500 NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:18752142|PMID:23174487|PMID:23392653|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29197658 10055451 CV197429 NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:14998624|PMID:21956039|PMID:23130128|PMID:23392653|PMID:25741868|PMID:28492532|PMID:29532034|PMID:30571187|PMID:9386136 10055453 CV197434 NM_000218.3(KCNQ1):c.587A>C (p.Lys196Thr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:29532034|PMID:30571187 10055455 CV197438 NM_000218.3(KCNQ1):c.642C>A (p.Cys214Ter) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19862833|PMID:28492532|PMID:9323054 10055457 CV197441 NM_000218.3(KCNQ1):c.707T>C (p.Leu236Pro) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:29532034|PMID:30571187 10055458 CV197443 NM_000218.3(KCNQ1):c.757T>C (p.Ser253Pro) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055460 CV197447 NM_000218.3(KCNQ1):c.827C>T (p.Ser276Phe) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868 10055461 CV197448 NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:1584047|PMID:19490272|PMID:19632626|PMID:19716085|PMID:20301308|PMID:21451124|PMID:22456477|PMID:23158531|PMID:25741868|PMID:26344792|PMID:28438721|PMID:28492532|PMID:28532774|PMID:31737537|PMID:32893267|PMID:34428338|PMID:9781056 10055462 CV197450 NM_000218.3(KCNQ1):c.922-3C>A variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17576681|PMID:28492532|PMID:9536098 10055463 CV197451 NM_000218.3(KCNQ1):c.946G>T (p.Gly316Trp) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19808498|PMID:20981542|PMID:28492532|PMID:31737537 10055465 CV197453 NM_000218.3(KCNQ1):c.961C>T (p.Gln321Ter) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19862833|PMID:28492532|PMID:9323054 10055466 CV197454 NM_000218.3(KCNQ1):c.962A>C (p.Gln321Pro) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055467 CV197455 NM_000218.3(KCNQ1):c.965C>G (p.Thr322Arg) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16414944|PMID:17470695|PMID:18004376|PMID:18400097|PMID:19716085|PMID:22949429|PMID:23092362|PMID:24314077|PMID:28492532 10055469 CV197459 NM_000218.3(KCNQ1):c.1009A>T (p.Ile337Phe) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055471 CV197461 NM_000218.2(KCNQ1):c.1025T>C (p.Leu342Pro) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055472 CV197466 NM_000218.3(KCNQ1):c.1033-2A>C variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16199547|PMID:19862833|PMID:28492532|PMID:31737537|PMID:32383558|PMID:9323054 10055474 CV197468 NM_000218.3(KCNQ1):c.1033G>A (p.Gly345Arg) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10220144|PMID:14678125|PMID:24762593|PMID:26496715|PMID:28492532|PMID:8528244|PMID:9272155 10055475 CV197469 NM_000218.3(KCNQ1):c.1049G>T (p.Gly350Val) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23631430|PMID:25741868|PMID:28492532 10055479 CV197475 NM_000218.3(KCNQ1):c.1128+5G>A variant HP:0000365 Hearing impairment IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:19716085|PMID:23788249|PMID:25525159|PMID:25741868|PMID:27707468|PMID:28492532|PMID:30311386 10055479 CV197475 NM_000218.3(KCNQ1):c.1128+5G>A variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19716085|PMID:23788249|PMID:25525159|PMID:25741868|PMID:27707468|PMID:28492532|PMID:30311386 10055479 CV197475 NM_000218.3(KCNQ1):c.1128+5G>A variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:19716085|PMID:23788249|PMID:25525159|PMID:25741868|PMID:27707468|PMID:28492532|PMID:30311386 10055480 CV197483 NM_000218.3(KCNQ1):c.1383T>A (p.Tyr461Ter) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19862833|PMID:24070608|PMID:28492532|PMID:9323054 10055481 CV197476 NM_000218.3(KCNQ1):c.1142G>A (p.Cys381Tyr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25639344|PMID:25741868|PMID:28492532 10055482 CV197479 NM_000218.3(KCNQ1):c.1251+2T>C variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868 10055483 CV197481 NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19124472|PMID:25741868|PMID:25854863|PMID:28492532|PMID:30615648 10055483 CV197481 NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:19124472|PMID:25741868|PMID:25854863|PMID:28492532|PMID:30615648 10055484 CV197484 NM_000218.3(KCNQ1):c.1394-1G>T variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16199547|PMID:17905336|PMID:19632626|PMID:19862833|PMID:20301308|PMID:234493|PMID:23631430|PMID:25525159|PMID:25741868|PMID:26318259|PMID:280145|PMID:28438721|PMID:28492532|PMID:30099333|PMID:33029862|PMID:34135346|PMID:38489124|PMID:738035|PMID:752693|PMID:9323054 10055484 CV197484 NM_000218.3(KCNQ1):c.1394-1G>T variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:16199547|PMID:17905336|PMID:19632626|PMID:19862833|PMID:20301308|PMID:234493|PMID:23631430|PMID:25525159|PMID:25741868|PMID:26318259|PMID:280145|PMID:28438721|PMID:28492532|PMID:30099333|PMID:33029862|PMID:34135346|PMID:38489124|PMID:738035|PMID:752693|PMID:9323054 10055486 CV197487 NM_000218.3(KCNQ1):c.1464C>A (p.Asp488Glu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055486 CV197487 NM_000218.3(KCNQ1):c.1464C>A (p.Asp488Glu) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10055488 CV197496 NM_000218.3(KCNQ1):c.1685+1G>A variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16199547|PMID:19862833|PMID:25741868|PMID:28492532|PMID:31737537|PMID:34505893|PMID:9323054 10055489 CV197491 NM_000218.3(KCNQ1):c.1545G>T (p.Lys515Asn) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055490 CV197493 NM_000218.3(KCNQ1):c.1660G>A (p.Val554Met) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:32893267 10055492 CV197497 NM_000218.3(KCNQ1):c.1686G>T (p.Arg562Ser) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:22456477|PMID:22727609|PMID:28492532|PMID:30170673 10055493 CV197501 NM_000218.3(KCNQ1):c.1762A>T (p.Ile588Phe) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:27041150|PMID:28492532 10055495 CV197504 NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10024302|PMID:16981927|PMID:19716085|PMID:19825999|PMID:23098067|PMID:23631430|PMID:24033266|PMID:25187895|PMID:25741868|PMID:26669661|PMID:27479201|PMID:28492532|PMID:29095814|PMID:29532034|PMID:30847666|PMID:31737537|PMID:32686758|PMID:32893267|PMID:34505893 10055497 CV197506 NM_000218.3(KCNQ1):c.1794G>A (p.Lys598=) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17576681|PMID:19716085|PMID:22456477|PMID:28492532|PMID:31737537|PMID:9536098 10055498 CV197507 NM_000218.3(KCNQ1):c.1801C>T (p.Gln601Ter) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10024302|PMID:23098067|PMID:23631430|PMID:25187895|PMID:28492532 10055499 CV197508 NM_000218.3(KCNQ1):c.1811A>T (p.Gln604Leu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055500 CV197509 NM_000218.3(KCNQ1):c.1829C>A (p.Thr610Asn) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:31337358 10055500 CV197509 NM_000218.3(KCNQ1):c.1829C>A (p.Thr610Asn) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:31337358 10055501 CV197510 NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19716085|PMID:24033266|PMID:25741868|PMID:26704558|PMID:28492532|PMID:32383558|PMID:34495297|PMID:37589201 10055501 CV197510 NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:19716085|PMID:24033266|PMID:25741868|PMID:26704558|PMID:28492532|PMID:32383558|PMID:34495297|PMID:37589201 10055502 CV197511 NM_000218.3(KCNQ1):c.1999G>A (p.Val667Met) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:29420653 10055502 CV197511 NM_000218.3(KCNQ1):c.1999G>A (p.Val667Met) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:29420653 10055505 CV197408 NM_000218.3(KCNQ1):c.64G>C (p.Gly22Arg) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:34505893 10055507 CV197431 NM_000218.3(KCNQ1):c.551dup (p.Tyr184Ter) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19862833|PMID:28492532|PMID:34505893|PMID:9323054 10055509 CV197422 NM_000218.3(KCNQ1):c.387-5T>A variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19027783|PMID:1918417|PMID:19184172|PMID:25741868|PMID:28438721|PMID:28492532|PMID:28944242 10055510 CV197423 NM_000218.3(KCNQ1):c.392T>C (p.Leu131Pro) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:29532034|PMID:30571187 10055511 CV197427 NM_000218.3(KCNQ1):c.477+1G>A variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:12566525|PMID:15466642|PMID:16987820|PMID:19716085|PMID:22539601|PMID:22629021|PMID:24033266|PMID:24552659|PMID:25741868|PMID:28492532|PMID:29037160|PMID:9386136 10055511 CV197427 NM_000218.3(KCNQ1):c.477+1G>A variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10973849|PMID:12566525|PMID:15466642|PMID:16987820|PMID:19716085|PMID:22539601|PMID:22629021|PMID:24033266|PMID:24552659|PMID:25741868|PMID:28492532|PMID:29037160|PMID:9386136 10055512 CV197414 NM_000218.3(KCNQ1):c.242C>T (p.Pro81Leu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055513 CV197415 NM_000218.3(KCNQ1):c.251C>G (p.Pro84Arg) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055514 CV197416 NM_000218.3(KCNQ1):c.296C>G (p.Pro99Arg) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24631775|PMID:25741868|PMID:28492532|PMID:29247119 10055516 CV197418 NM_000218.3(KCNQ1):c.343G>A (p.Glu115Lys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055521 CV197486 NM_000218.3(KCNQ1):c.1446del (p.Asn483fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19862833|PMID:28492532|PMID:9323054 10055522 CV197462 NM_000218.3(KCNQ1):c.1029_1031dup (p.Ala344_Gly345insAla) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055523 CV197464 NM_000218.3(KCNQ1):c.1032+5dup variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055524 CV197494 NM_000218.3(KCNQ1):c.1660del (p.Val554fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10024302|PMID:16981927|PMID:19825999|PMID:23098067|PMID:23631430|PMID:25187895|PMID:28492532|PMID:32893267 10055525 CV197498 NM_000218.3(KCNQ1):c.1686del variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10024302|PMID:10654932|PMID:18165683|PMID:19693805|PMID:19825999|PMID:23098067|PMID:23631430|PMID:24033266|PMID:25187895|PMID:25741868|PMID:28492532 10055525 CV197498 NM_000218.3(KCNQ1):c.1686del variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10024302|PMID:10654932|PMID:18165683|PMID:19693805|PMID:19825999|PMID:23098067|PMID:23631430|PMID:24033266|PMID:25187895|PMID:25741868|PMID:28492532 10055526 CV197410 NM_000218.3(KCNQ1):c.165_187del (p.Gly57fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19862833|PMID:27871843|PMID:28492532|PMID:9323054 10055526 CV197410 NM_000218.3(KCNQ1):c.165_187del (p.Gly57fs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:19862833|PMID:27871843|PMID:28492532|PMID:9323054 10055527 CV197412 NM_000218.2(KCNQ1):c.201_221del21 (p.Ala68_Pro74del) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055528 CV197424 NM_000218.3(KCNQ1):c.403del (p.Val135fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19716085|PMID:19862833|PMID:24033266|PMID:28492532|PMID:34505893|PMID:9323054 10055532 CV197437 NM_000218.3(KCNQ1):c.605A>G (p.Asp202Gly) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:30571187 10055537 CV197463 NM_000218.3(KCNQ1):c.1031C>G (p.Ala344Gly) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16922724|PMID:17088455|PMID:17470695|PMID:19490272|PMID:24217263|PMID:27920829|PMID:28492532|PMID:9386136 10055538 CV197471 NM_000218.3(KCNQ1):c.1081C>T (p.Gln361Ter) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19862833|PMID:28492532|PMID:9323054 10055540 CV197478 NM_000218.3(KCNQ1):c.1201C>T (p.Arg401Trp) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25741868|PMID:28492532 10055540 CV197478 NM_000218.3(KCNQ1):c.1201C>T (p.Arg401Trp) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:24033266|PMID:25741868|PMID:28492532 10055541 CV197482 NM_000218.3(KCNQ1):c.1355G>T (p.Arg452Leu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:34930020 10055544 CV197499 NM_000218.3(KCNQ1):c.1706A>G (p.Lys569Arg) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868 10055545 CV197502 NM_000218.3(KCNQ1):c.1763T>C (p.Ile588Thr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:27251404|PMID:28492532 10055546 CV197426 NM_000218.3(KCNQ1):c.448G>A (p.Ala150Thr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:29532034|PMID:30571187|PMID:3189954|PMID:31899541 10055546 CV197426 NM_000218.3(KCNQ1):c.448G>A (p.Ala150Thr) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:29532034|PMID:30571187|PMID:3189954|PMID:31899541 10055548 CV197421 NM_000218.3(KCNQ1):c.377A>T (p.His126Leu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19841300|PMID:25348405|PMID:28492532 10055549 CV197436 NM_000218.3(KCNQ1):c.603_604+9del variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16199547|PMID:19862833|PMID:25741868|PMID:28492532|PMID:9323054 10055550 CV197458 NM_000218.3(KCNQ1):c.1004_1005del (p.Phe335fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19862833|PMID:28492532|PMID:9323054 10055551 CV197480 NM_000218.2(KCNQ1):c.1252delG (p.Val418Terfs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055552 CV197419 NM_000218.3(KCNQ1):c.364dup (p.Cys122fs) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:15840476|PMID:19716085|PMID:19862833|PMID:24665220|PMID:25741868|PMID:28492532|PMID:30609406|PMID:9323054 10055557 CV196477 NM_170707.4(LMNA):c.1157+6C>G variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10055558 CV196486 NM_005572.4(LMNA):c.1712G>A (p.Arg571His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:10580070|PMID:11102973|PMID:25741868|PMID:28492532|PMID:28686329|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 10055558 CV196486 NM_005572.4(LMNA):c.1712G>A (p.Arg571His) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10580070|PMID:11102973|PMID:25741868|PMID:28492532|PMID:28686329|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 10055601 CV197886 NM_002474.3(MYH11):c.3563G>A (p.Arg1188Gln) variant HP:0004942 Aortic aneurysm IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Aortic dilatation PMID:25741868|PMID:28492532 10055658 CV196757 NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile) variant HP:0003563 Decreased LDL cholesterol concentration IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hypobetalipoproteinemia PMID:25741868|PMID:28492532 10055659 CV196755 NM_174936.4(PCSK9):c.1380A>G (p.Val460=) variant HP:0003563 Decreased LDL cholesterol concentration IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hypobetalipoproteinemia PMID:25741868|PMID:28492532 10055662 CV196560 NM_001035.3(RYR2):c.2253T>G (p.Thr751=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055662 CV196560 NM_001035.3(RYR2):c.2253T>G (p.Thr751=) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10055664 CV196566 NM_001035.3(RYR2):c.2574G>A (p.Thr858=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055664 CV196566 NM_001035.3(RYR2):c.2574G>A (p.Thr858=) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10055665 CV196580 NM_001035.3(RYR2):c.3720C>T (p.Ala1240=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055665 CV196580 NM_001035.3(RYR2):c.3720C>T (p.Ala1240=) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10055667 CV196604 NM_001035.3(RYR2):c.5373C>A (p.Thr1791=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055667 CV196604 NM_001035.3(RYR2):c.5373C>A (p.Thr1791=) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10055669 CV196620 NM_001035.3(RYR2):c.6738G>T (p.Ser2246=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055669 CV196620 NM_001035.3(RYR2):c.6738G>T (p.Ser2246=) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10055670 CV196638 NM_001035.3(RYR2):c.7542G>A (p.Leu2514=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055670 CV196638 NM_001035.3(RYR2):c.7542G>A (p.Leu2514=) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10055672 CV196646 NM_001035.3(RYR2):c.8367T>C (p.Ile2789=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055672 CV196646 NM_001035.3(RYR2):c.8367T>C (p.Ile2789=) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10055674 CV196681 NM_001035.3(RYR2):c.11476+10A>C variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055676 CV196711 NM_001035.3(RYR2):c.12492G>A (p.Gln4164=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:18752142|PMID:25741868|PMID:28492532 10055676 CV196711 NM_001035.3(RYR2):c.12492G>A (p.Gln4164=) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:18752142|PMID:25741868|PMID:28492532 10055677 CV196723 NM_001035.3(RYR2):c.12858C>T (p.Ser4286=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055677 CV196723 NM_001035.3(RYR2):c.12858C>T (p.Ser4286=) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10055679 CV197016 NM_000335.5(SCN5A):c.42C>T (p.Arg14=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:25741868|PMID:28492532 10055680 CV197000 NM_001099404.2(SCN5A):c.648G>A (p.Ser216=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868 10055681 CV196987 NM_000335.5(SCN5A):c.1141-4C>T variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868 10055682 CV196966 NM_000335.5(SCN5A):c.1821C>T (p.Gly607=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:37732247 10055683 CV196965 NM_000335.5(SCN5A):c.1842A>G (p.Pro614=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:25741868|PMID:28492532 10055684 CV196950 NM_000335.5(SCN5A):c.2253C>T (p.Val751=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:25741868|PMID:28492532 10055686 CV196924 NM_000335.5(SCN5A):c.3048G>A (p.Thr1016=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23105938|PMID:25741868|PMID:28492532 10055687 CV196897 NM_000335.5(SCN5A):c.3879C>T (p.Ala1293=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:24033266|PMID:25741868|PMID:28492532 10055688 CV196862 NM_000335.5(SCN5A):c.4932G>A (p.Thr1644=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:25741868|PMID:28492532 10055689 CV196834 NM_000335.5(SCN5A):c.5799C>T (p.Ser1933=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:24033266|PMID:25741868|PMID:28492532 10055691 CV198377 NM_020297.4(ABCC9):c.2826T>C (p.Tyr942=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055693 CV198070 NM_001103.4(ACTN2):c.2644G>A (p.Ala882Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055696 CV198042 NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln) variant HP:0011664 Left ventricular noncompaction cardiomyopathy IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction PMID:25741868|PMID:28492532|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31737537 10055703 CV198050 NM_001103.4(ACTN2):c.794C>T (p.Ala265Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:30847666 10055705 CV198051 NM_001103.4(ACTN2):c.926C>T (p.Pro309Leu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055711 CV198058 NM_001103.4(ACTN2):c.1748A>G (p.Glu583Gly) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055715 CV198062 NM_001103.4(ACTN2):c.2161C>T (p.Arg721Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25611685|PMID:25741868|PMID:28492532 10055724 CV198350 NM_014391.3(ANKRD1):c.346-19_346-18del variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10055724 CV198350 NM_014391.3(ANKRD1):c.346-19_346-18del variant HP:0005160 Total anomalous pulmonary venous return IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Total anomalous pulmonary venous return PMID:28492532 10055725 CV198349 NM_014391.3(ANKRD1):c.346-15_346-14del variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055725 CV198349 NM_014391.3(ANKRD1):c.346-15_346-14del variant HP:0005160 Total anomalous pulmonary venous return IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Total anomalous pulmonary venous return PMID:25741868|PMID:28492532 10055726 CV198347 NM_014391.3(ANKRD1):c.346-14_346-9del variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10055729 CV198341 NM_014391.2(ANKRD1):c.652-16delT variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 10055744 CV198233 NM_004281.4(BAG3):c.855G>A (p.Thr285=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055763 CV198514 NM_001198944.1(DTNA):c.176A>G (p.His59Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 10055782 CV198367 NM_004517.4(ILK):c.448+12del variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 10055783 CV198369 NM_004517.3(ILK):c.1081C>T (p.Leu361=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 10055784 CV198363 NM_004517.4(ILK):c.65A>G (p.Asn22Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10055788 CV198538 NM_020433.5(JPH2):c.128A>G (p.Asn43Ser) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10055789 CV198527 NM_020433.5(JPH2):c.1729G>A (p.Glu577Lys) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10055790 CV198537 NM_020433.5(JPH2):c.385T>G (p.Tyr129Asp) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10055791 CV198536 NM_020433.5(JPH2):c.458T>C (p.Val153Ala) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10055792 CV198535 NM_020433.5(JPH2):c.572C>G (p.Pro191Arg) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10055793 CV198534 NM_020433.5(JPH2):c.637C>T (p.Arg213Trp) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10055794 CV198533 NM_020433.5(JPH2):c.661T>C (p.Phe221Leu) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10055795 CV198532 NM_020433.5(JPH2):c.856A>G (p.Thr286Ala) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:22584458|PMID:23834499|PMID:24033266|PMID:25741868|PMID:28492532 10055795 CV198532 NM_020433.5(JPH2):c.856A>G (p.Thr286Ala) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:22584458|PMID:23834499|PMID:24033266|PMID:25741868|PMID:28492532 10055795 CV198532 NM_020433.5(JPH2):c.856A>G (p.Thr286Ala) variant HP:0004755 Supraventricular tachycardia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: SVT PMID:22584458|PMID:23834499|PMID:24033266|PMID:25741868|PMID:28492532 10055799 CV198529 NM_020433.5(JPH2):c.1424G>A (p.Arg475His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055799 CV198529 NM_020433.5(JPH2):c.1424G>A (p.Arg475His) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10055800 CV198526 NM_020433.5(JPH2):c.1896G>C (p.Glu632Asp) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10055805 CV198506 NM_002230.4(JUP):c.286G>A (p.Glu96Lys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055807 CV198504 NM_002230.4(JUP):c.427G>A (p.Ala143Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:20525856|PMID:23299917|PMID:24033266|PMID:25445213|PMID:25741868|PMID:27005929|PMID:28492532 10055818 CV198489 NM_002230.4(JUP):c.1130G>A (p.Arg377His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:25765472|PMID:28492532 10055821 CV198486 NM_002230.4(JUP):c.1582G>A (p.Val528Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:30847666 10055844 CV198281 NM_032578.4(MYPN):c.3493+14del variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 10055845 CV198280 NM_032578.3(MYPN):c.3493+14_3493+19delCTGGGA variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 10055846 CV198282 NM_032578.4(MYPN):c.3493+15_3493+20del variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10055853 CV198264 NM_032578.4(MYPN):c.1012C>T (p.Arg338Cys) variant HP:0001712 Left ventricular hypertrophy IAGP H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:25741868|PMID:28492532|PMID:29447731|PMID:30847666|PMID:31110529|PMID:33297573 10055853 CV198264 NM_032578.4(MYPN):c.1012C>T (p.Arg338Cys) variant HP:0011664 Left ventricular noncompaction cardiomyopathy IAGP H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:29447731|PMID:30847666|PMID:31110529|PMID:33297573 10055854 CV198265 NM_032578.4(MYPN):c.1105G>A (p.Asp369Asn) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10055862 CV198277 NM_032578.3(MYPN):c.3233C>A (p.Ala1078Asp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 10055867 CV198253 NM_006393.2(NEBL):c.259-16dupT variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 10055868 CV198254 NM_006393.2(NEBL):c.259-16delT variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 10055884 CV198081 NM_144573.4(NEXN):c.687+23del variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10055886 CV198075 NM_144573.4(NEXN):c.242A>T (p.Asp81Val) variant HP:0001712 Left ventricular hypertrophy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:24033266|PMID:28492532|PMID:33029862 10055888 CV198078 NM_144573.4(NEXN):c.512T>C (p.Ile171Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10055890 CV198082 NM_144573.4(NEXN):c.856C>T (p.Arg286Trp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:28798025 10055895 CV198089 NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055895 CV198089 NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile) variant HP:0001644 Dilated cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE PMID:25741868|PMID:28492532 10055900 CV198098 NM_144573.4(NEXN):c.1618A>G (p.Met540Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28087566|PMID:28492532 10055905 CV198091 NM_144573.4(NEXN):c.1430T>C (p.Ile477Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055913 CV198083 NM_144573.4(NEXN):c.874G>A (p.Asp292Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:30847666 10055918 CV198166 NM_014476.6(PDLIM3):c.696C>T (p.Asp232=) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10055919 CV198164 NM_014476.6(PDLIM3):c.896G>A (p.Ser299Asn) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10055921 CV198170 NM_014476.6(PDLIM3):c.29C>T (p.Pro10Leu) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10055922 CV198169 NM_014476.6(PDLIM3):c.60C>A (p.Gly20=) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10055924 CV198165 NM_014476.6(PDLIM3):c.715G>A (p.Asp239Asn) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:28492532 10055925 CV198163 NM_014476.6(PDLIM3):c.926G>A (p.Arg309Gln) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10055926 CV198161 NM_014476.6(PDLIM3):c.1082A>G (p.Tyr361Cys) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10055927 CV198171 NM_014476.6(PDLIM3):c.11C>T (p.Thr4Met) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532|PMID:34802252 10055929 CV198393 NM_001005242.3(PKP2):c.2168-6T>C variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055930 CV198451 NM_001005242.3(PKP2):c.387G>A (p.Gln129=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055932 CV198183 NM_002667.5(PLN):c.145G>A (p.Val49Met) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26573135|PMID:28492532 10055935 CV198180 NM_002667.5(PLN):c.63_64dup (p.Gln22fs) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:12639993|PMID:17655857|PMID:21167350|PMID:25611685|PMID:25741868|PMID:26535225|PMID:27532257|PMID:28492532|PMID:35470680|PMID:35653365 10055935 CV198180 NM_002667.5(PLN):c.63_64dup (p.Gln22fs) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:12639993|PMID:17655857|PMID:21167350|PMID:25611685|PMID:25741868|PMID:26535225|PMID:27532257|PMID:28492532|PMID:35470680|PMID:35653365 10055939 CV198197 NM_001134363.3(RBM20):c.1451C>T (p.Thr484Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25351510|PMID:25741868|PMID:28492532 10055942 CV198211 NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:29892087|PMID:31983221 10055948 CV198186 NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:29628476|PMID:30847666 10055955 CV198202 NM_001134363.2(RBM20):c.1668G>C (p.Gln556His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 10055960 CV198209 NM_001134363.3(RBM20):c.1922G>A (p.Arg641Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055965 CV198218 NM_001134363.3(RBM20):c.2588C>G (p.Pro863Arg) variant HP:0001644 Dilated cardiomyopathy IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE PMID:25741868|PMID:28492532 10055977 CV198203 NM_001134363.3(RBM20):c.1748G>A (p.Gly583Asp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055978 CV198193 NM_001134363.2(RBM20):c.783_801dup19 (p.Ser268Aspfs) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 10055980 CV198177 NM_000337.6(SGCD):c.402T>C (p.Ala134=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055982 CV198286 NM_014000.3(VCL):c.81C>T (p.His27=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055986 CV198304 NM_014000.3(VCL):c.2467C>T (p.Arg823Trp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:30847666 10056018 CV198633 NM_001032386.2(SUOX):c.332T>A (p.Val111Asp) variant HP:0003643 Sulfite oxidase deficiency IAGP H RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Sulfite oxidase deficiency PMID:12112661|PMID:9428520 10056022 CV198618 NM_000404.4(GLB1):c.1577dup (p.Trp527fs) variant HP:0008166 Decreased beta-galactosidase activity IAGP H RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Beta galactosidase 1 deficiency PMID:10338095|PMID:15986423|PMID:16941474|PMID:17309651|PMID:18524657|PMID:21637542|PMID:25741868|PMID:25936995|PMID:28492532|PMID:31761138 10056026 CV198605 NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18606970|PMID:20301603|PMID:25167861|PMID:25741868 10056040 CV199387 NM_001267550.2(TTN):c.39690G>A (p.Ala13230=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10056045 CV199297 NM_001267550.2(TTN):c.48624T>C (p.Pro16208=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056046 CV199287 NM_001267550.2(TTN):c.49278T>C (p.Ala16426=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056047 CV199242 NM_001267550.2(TTN):c.52409C>A (p.Pro17470Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056059 CV198744 NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10056069 CV199531 NM_001267550.2(TTN):c.21276C>T (p.Thr7092=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 10056077 CV199810 NM_003098.3(SNTA1):c.1204C>T (p.Arg402Trp) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10056092 CV199803 NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) variant HP:0002092 Pulmonary arterial hypertension IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32692933|PMID:33110422|PMID:33526094|PMID:34132118|PMID:34715861|PMID:35170262|PMID:35626240 10056092 CV199803 NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) variant HP:0002093 Respiratory insufficiency IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Respiratory insufficiency PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32692933|PMID:33110422|PMID:33526094|PMID:34132118|PMID:34715861|PMID:35170262|PMID:35626240 10056092 CV199803 NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) variant HP:0010444 Pulmonic regurgitation IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pulmonary insufficiency PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32692933|PMID:33110422|PMID:33526094|PMID:34132118|PMID:34715861|PMID:35170262|PMID:35626240 10056097 CV199790 NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg) variant HP:0000365 Hearing impairment IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:28492532|PMID:30311386 10056104 CV199796 NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) variant HP:0030051 Tip-toe gait IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Tip-toe gait PMID:16786513|PMID:17221871|PMID:17630210|PMID:21802952|PMID:22250184|PMID:25741863|PMID:25741868|PMID:28492532|PMID:28967462|PMID:29143597|PMID:29881221|PMID:37769369 10056111 CV199855 NM_001693.4(ATP6V1B2):c.1516C>T (p.Arg506Ter) variant HP:0012758 Neurodevelopmental delay IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental delay PMID:24913193|PMID:25741868|PMID:28396750|PMID:31581539|PMID:31655144 10056114 CV199867 NM_002087.4(GRN):c.462+1G>C variant HP:0002145 Frontotemporal dementia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:23463024 10056115 CV199869 NM_002087.4(GRN):c.882T>G (p.Tyr294Ter) variant HP:0002145 Frontotemporal dementia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:23463024 10056116 CV199870 NM_002087.4(GRN):c.1212C>A (p.Cys404Ter) variant HP:0002145 Frontotemporal dementia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 10056117 CV199871 NM_002087.4(GRN):c.1246dup (p.Cys416fs) variant HP:0002145 Frontotemporal dementia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:23463024 10056118 CV199866 NM_002087.4(GRN):c.87dup (p.Cys30fs) variant HP:0002145 Frontotemporal dementia IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:16862116|PMID:16950801|PMID:22608501|PMID:28492532|PMID:29724592|PMID:30992141 10056119 CV199868 NM_002087.4(GRN):c.708+1G>A variant HP:0002145 Frontotemporal dementia IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:16199547|PMID:16862116|PMID:16950801|PMID:17030534|PMID:22608501|PMID:23463024|PMID:25741868|PMID:28430294|PMID:28492532|PMID:28749476|PMID:30054184|PMID:30992141 10056125 CV199892 NM_003239.5(TGFB3):c.787G>C (p.Asp263His) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25835445 10056144 CV200304 NM_001243279.3(ACSF3):c.29G>A (p.Arg10Gln) variant HP:0002912 Methylmalonic acidemia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:28492532 10056150 CV200305 NM_001243279.3(ACSF3):c.119C>T (p.Ser40Leu) variant HP:0002912 Methylmalonic acidemia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:28492532 10056151 CV200153 NM_000048.4(ASL):c.614C>T (p.Ala205Val) variant HP:0025630 Argininosuccinic aciduria IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Argininosuccinic Aciduria PMID:24166829|PMID:25741868|PMID:28492532 10056152 CV200155 NM_000048.4(ASL):c.688A>G (p.Met230Val) variant HP:0025630 Argininosuccinic aciduria IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinic Aciduria PMID:28492532 10056155 CV200147 NM_000048.4(ASL):c.392C>T (p.Thr131Met) variant HP:0025630 Argininosuccinic aciduria IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Argininosuccinic Aciduria PMID:12384776|PMID:25087612|PMID:25741868|PMID:28492532 10056176 CV200131 NM_000108.5(DLD):c.100A>G (p.Thr34Ala) variant HP:0002928 Decreased activity of the pyruvate dehydrogenase complex IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency PMID:25741868|PMID:28492532 10056181 CV200139 NM_000108.5(DLD):c.763A>C (p.Met255Leu) variant HP:0002928 Decreased activity of the pyruvate dehydrogenase complex IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency PMID:25741868|PMID:28492532 10056182 CV200140 NM_000108.5(DLD):c.788G>A (p.Arg263His) variant HP:0002928 Decreased activity of the pyruvate dehydrogenase complex IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency PMID:25741868|PMID:28492532 10056197 CV200349 NM_001985.3(ETFB):c.292C>T (p.Arg98Cys) variant HP:0012622 Chronic kidney disease IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:24215330|PMID:25741868|PMID:28492532 10056209 CV200068 NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10056210 CV200184 NM_000155.4(GALT):c.864C>T (p.Asn288=) variant HP:0004919 Galactose intolerance IAGP H RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Galactose intolerance PMID:22944367|PMID:25741868|PMID:28492532 10056210 CV200184 NM_000155.4(GALT):c.864C>T (p.Asn288=) variant HP:0012024 Hypergalactosemia IAGP H RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Galactosemia PMID:22944367|PMID:25741868|PMID:28492532 10056212 CV200001 NM_000182.5(HADHA):c.573+8dup variant HP:0100950 Decreased 3-hydroxyacyl-CoA dehydrogenase level IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:28492532 10056213 CV199998 NM_000182.5(HADHA):c.1392+10G>A variant HP:0100950 Decreased 3-hydroxyacyl-CoA dehydrogenase level IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:25741868|PMID:28492532 10056214 CV199996 NM_000182.5(HADHA):c.1690-6G>A variant HP:0100950 Decreased 3-hydroxyacyl-CoA dehydrogenase level IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:28492532 10056215 CV199994 NM_000182.5(HADHA):c.2146+16T>C variant HP:0100950 Decreased 3-hydroxyacyl-CoA dehydrogenase level IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:25741868|PMID:28492532 10056216 CV200004 NM_000182.5(HADHA):c.-25C>G variant HP:0100950 Decreased 3-hydroxyacyl-CoA dehydrogenase level IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 10056218 CV199999 NM_000182.5(HADHA):c.982G>A (p.Gly328Arg) variant HP:0100950 Decreased 3-hydroxyacyl-CoA dehydrogenase level IAGP H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:26109258|PMID:35383965 10056269 CV200251 NM_000282.4(PCCA):c.145C>T (p.Arg49Cys) variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 10056270 CV200252 NM_000282.4(PCCA):c.328G>C (p.Val110Leu) variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 10056271 CV200029 NM_000532.5(PCCB):c.49C>A (p.Leu17Met) variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:10447268|PMID:10780784|PMID:12007220|PMID:12757933|PMID:15464417|PMID:25741868|PMID:27896094|PMID:28492532 10056301 CV200257 NM_014252.4(SLC25A15):c.182G>A (p.Arg61His) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28337550|PMID:28492532 10056317 CV200273 NM_003850.3(SUCLA2):c.236C>T (p.Ser79Leu) variant HP:0001263 Global developmental delay IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retarded psychomotor development PMID:25741868|PMID:28492532 10056334 CV200393 NM_014520.4(MYBBP1A):c.139C>T (p.Gln47Ter) variant HP:0000717 Autism IAGP H RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Autism 10056335 CV200392 NM_000228.3(LAMB3):c.133T>G (p.Ser45Ala) variant HP:0000717 Autism IAGP H RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Autism 10056424 CV200501 NM_000030.3(AGXT):c.481G>A (p.Gly161Ser) variant HP:0000121 Nephrocalcinosis IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:17460142|PMID:17495019|PMID:19479957|PMID:24055001|PMID:24718375|PMID:25629080|PMID:25741868|PMID:28492532|PMID:28893421|PMID:35695965 10056424 CV200501 NM_000030.3(AGXT):c.481G>A (p.Gly161Ser) variant HP:0000787 Nephrolithiasis IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Nephrolithiasis PMID:17460142|PMID:17495019|PMID:19479957|PMID:24055001|PMID:24718375|PMID:25629080|PMID:25741868|PMID:28492532|PMID:28893421|PMID:35695965 10056449 CV200557 NM_000030.3(AGXT):c.823A>C (p.Ser275Arg) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:19479957|PMID:22923379|PMID:24718375 10056611 CV200708 NM_024741.3(ZNF408):c.1363C>T (p.His455Tyr) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:23716654|PMID:25741868|PMID:28559085|PMID:29982478|PMID:6897033 10056612 CV200709 NM_024741.3(ZNF408):c.377G>A (p.Ser126Asn) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:23716654|PMID:26167114|PMID:28492532|PMID:33247286 10056613 CV200711 NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:25882705|PMID:28492532|PMID:3196484 10056615 CV200727 NM_002253.4(KDR):c.2615-23C>T variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056616 CV200726 NM_002253.4(KDR):c.2656C>A (p.Leu886Ile) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056617 CV200725 NM_002253.4(KDR):c.2676T>A (p.Ile892=) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056618 CV200724 NM_002253.4(KDR):c.2705T>A (p.Leu902Gln) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056619 CV200723 NM_002253.4(KDR):c.2721G>C (p.Lys907Asn) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056620 CV200732 NM_002253.4(KDR):c.2380G>A (p.Gly794Arg) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056621 CV200731 NM_002253.4(KDR):c.2509+20T>A variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056622 CV200730 NM_002253.4(KDR):c.2510-27del variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056623 CV200729 NM_002253.4(KDR):c.2544G>T (p.Val848=) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056624 CV200728 NM_002253.4(KDR):c.2598A>C (p.Ala866=) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056625 CV200722 NM_002253.4(KDR):c.3405-4C>T variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056626 CV200721 NM_002253.4(KDR):c.3441C>G (p.Pro1147=) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056627 CV200720 NM_002253.4(KDR):c.3465G>A (p.Glu1155=) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056628 CV200719 NM_002253.4(KDR):c.3487C>T (p.Leu1163Phe) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056629 CV200740 NM_182925.5(FLT4):c.2542+20del variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056630 CV200741 NM_182925.5(FLT4):c.2542+18del variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056631 CV200742 NM_182925.5(FLT4):c.2542+12A>G variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056632 CV200743 NM_182925.5(FLT4):c.2519del (p.Phe840fs) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056633 CV200744 NM_182925.5(FLT4):c.2507G>A (p.Ser836Asn) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056634 CV200745 NM_182925.5(FLT4):c.2502T>A (p.Asp834Glu) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056635 CV200746 NM_182925.5(FLT4):c.2498A>C (p.Tyr833Ser) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056636 CV200747 NM_182925.5(FLT4):c.2496C>G (p.Ser832=) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056637 CV200748 NM_182925.5(FLT4):c.2470C>A (p.Leu824Met) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056638 CV200749 NM_182925.5(FLT4):c.2433C>A (p.Gly811=) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056639 CV200750 NM_182925.5(FLT4):c.2414A>C (p.His805Pro) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056640 CV200751 NM_182925.5(FLT4):c.2407-6C>G variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056641 CV200752 NM_182925.5(FLT4):c.2407-7C>T variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056642 CV200739 NM_182925.5(FLT4):c.2647+31del variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056643 CV200733 NM_182925.5(FLT4):c.3076del (p.Glu1026fs) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056644 CV200734 NM_182925.5(FLT4):c.3072del (p.Met1025fs) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056645 CV200735 NM_182925.5(FLT4):c.3065C>T (p.Ala1022Val) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056646 CV200736 NM_182925.5(FLT4):c.3064del (p.Ala1022fs) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056647 CV200737 NM_182925.5(FLT4):c.3056del (p.Phe1019fs) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056648 CV200738 NM_182925.5(FLT4):c.3002-9A>C variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056649 CV200753 NM_002019.4(FLT1):c.2439_2466del (p.Tyr815fs) variant HP:0003003 Colon cancer IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Colon carcinoma 10056678 CV200983 NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:20301500|PMID:24033266|PMID:25741868|PMID:25807282|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362|PMID:36788019|PMID:39033378 10056678 CV200983 NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) variant HP:0000548 Cone/cone-rod dystrophy IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:20301500|PMID:24033266|PMID:25741868|PMID:25807282|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362|PMID:36788019|PMID:39033378 10056678 CV200983 NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20301500|PMID:24033266|PMID:25741868|PMID:25807282|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362|PMID:36788019|PMID:39033378 10056678 CV200983 NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20301500|PMID:24033266|PMID:25741868|PMID:25807282|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362|PMID:36788019|PMID:39033378 10056678 CV200983 NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) variant HP:0001321 Cerebellar hypoplasia IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:20301500|PMID:24033266|PMID:25741868|PMID:25807282|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362|PMID:36788019|PMID:39033378 10056681 CV200986 NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) variant HP:0000510 Rod-cone dystrophy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:32581362 10056681 CV200986 NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) variant HP:0000548 Cone/cone-rod dystrophy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:32581362 10056681 CV200986 NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) variant HP:0001249 Intellectual disability IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:32581362 10056681 CV200986 NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) variant HP:0001321 Cerebellar hypoplasia IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:32581362 10056687 CV196500 NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 10056687 CV196500 NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) variant HP:0034733 Anesthesic-triggered malignant hyperthermia IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Anesthesic-triggered malignant hyperthermia PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 10056690 CV197045 NM_004415.4(DSP):c.1731G>A (p.Met577Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056691 CV197064 NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:29253866 10056692 CV197079 NM_004415.4(DSP):c.4943A>G (p.Gln1648Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24125834|PMID:25741868|PMID:28492532 10056693 CV197081 NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25351510|PMID:25741868|PMID:28492532|PMID:30165862 10056696 CV197092 NM_004415.4(DSP):c.5779C>G (p.Gln1927Glu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10056699 CV197024 NM_004415.4(DSP):c.273+3A>G variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:34352074|PMID:9536098 10056700 CV197025 NM_004415.4(DSP):c.424C>T (p.Leu142Phe) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:29334134|PMID:29420653|PMID:31983221 10056702 CV197027 NM_004415.4(DSP):c.521G>T (p.Cys174Phe) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666|PMID:33029862|PMID:33722762 10056703 CV197028 NM_004415.4(DSP):c.616G>A (p.Ala206Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25693453|PMID:25741868|PMID:28492532 10056706 CV197032 NM_004415.4(DSP):c.888C>G (p.Tyr296Ter) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532 10056708 CV197035 NM_004415.4(DSP):c.1012C>T (p.Leu338Phe) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056709 CV197036 NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25227139|PMID:25741868|PMID:26399581|PMID:28492532|PMID:34317553|PMID:34352074|PMID:36768812 10056710 CV197037 NM_004415.4(DSP):c.1102A>T (p.Ile368Phe) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056711 CV197040 NM_004415.4(DSP):c.1426G>A (p.Val476Met) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056712 CV197041 NM_004415.4(DSP):c.1468C>T (p.Arg490Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:30699244 10056716 CV197046 NM_004415.4(DSP):c.2027G>A (p.Arg676His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056720 CV197050 NM_004415.4(DSP):c.2468C>T (p.Ser823Leu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:30847666 10056721 CV197051 NM_004415.4(DSP):c.2552T>A (p.Leu851Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:16917092|PMID:25741868|PMID:26604139|PMID:27332903|PMID:28492532|PMID:29062697|PMID:37589201 10056723 CV197053 NM_004415.4(DSP):c.2622C>G (p.Ile874Met) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:32826072 10056725 CV197056 NM_004415.4(DSP):c.2765C>T (p.Thr922Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056726 CV197057 NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26383259|PMID:26743238|PMID:28492532|PMID:31333075|PMID:31568572 10056728 CV197059 NM_004415.4(DSP):c.2985G>A (p.Glu995=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10056729 CV197065 NM_004415.4(DSP):c.3661A>G (p.Ile1221Val) variant HP:0001644 Dilated cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE PMID:25741868|PMID:28492532 10056730 CV197066 NM_004415.4(DSP):c.3701A>G (p.Asn1234Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056731 CV197067 NM_004415.4(DSP):c.3715C>T (p.Leu1239Phe) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056732 CV197071 NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:20716751|PMID:23137101|PMID:24503780|PMID:24704780|PMID:25227139|PMID:25741868|PMID:26383259|PMID:28436997|PMID:28492532|PMID:29062697|PMID:31402444|PMID:31447099 10056734 CV197075 NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26406308|PMID:27153395|PMID:28492532|PMID:31983221 10056735 CV197076 NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:20716751|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25516398|PMID:25741868|PMID:28492532|PMID:29062697|PMID:29178656|PMID:29633331|PMID:30382575|PMID:33996946 10056735 CV197076 NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) variant HP:0001644 Dilated cardiomyopathy IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy PMID:20716751|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25516398|PMID:25741868|PMID:28492532|PMID:29062697|PMID:29178656|PMID:29633331|PMID:30382575|PMID:33996946 10056736 CV197080 NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:20129281|PMID:20152563|PMID:21723241|PMID:24033266|PMID:24070718|PMID:25741868|PMID:28471438|PMID:28492532|PMID:31333075|PMID:31568572 10056736 CV197080 NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro) variant HP:0011664 Left ventricular noncompaction cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Left ventricular non-compaction cardiomyopathy PMID:20129281|PMID:20152563|PMID:21723241|PMID:24033266|PMID:24070718|PMID:25741868|PMID:28471438|PMID:28492532|PMID:31333075|PMID:31568572 10056737 CV197077 NM_004415.4(DSP):c.4492A>G (p.Lys1498Glu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056738 CV197078 NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:30847666 10056739 CV197083 NM_004415.4(DSP):c.5035C>T (p.His1679Tyr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056741 CV197087 NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:20716751|PMID:24503780|PMID:25227139|PMID:25616645|PMID:25741868|PMID:25820315|PMID:26314686|PMID:28492532|PMID:28588093|PMID:29759408|PMID:31386562|PMID:32592540|PMID:33460606|PMID:34352074|PMID:35083019 10056746 CV197095 NM_004415.4(DSP):c.5827A>G (p.Arg1943Gly) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056747 CV197096 NM_004415.4(DSP):c.5881G>A (p.Val1961Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23396983|PMID:25351510|PMID:25741868|PMID:28492532 10056748 CV197097 NM_004415.4(DSP):c.5984T>C (p.Leu1995Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:29016939|PMID:31737537 10056750 CV197100 NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26656175|PMID:28492532 10056751 CV197102 NM_004415.4(DSP):c.6248G>A (p.Arg2083His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:31983221 10056752 CV197106 NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 10056752 CV197106 NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) variant HP:0011664 Left ventricular noncompaction cardiomyopathy IAGP H RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 10056754 CV197110 NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:12101406|PMID:21756917|PMID:23671136|PMID:25741868|PMID:25820315|PMID:27532257|PMID:28442525|PMID:28492532|PMID:28588093|PMID:29759408|PMID:31386562|PMID:31402444|PMID:32969603|PMID:35444050|PMID:37461109 10056755 CV197109 NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056758 CV197115 NM_004415.4(DSP):c.7310A>G (p.Glu2437Gly) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056760 CV197123 NM_004415.4(DSP):c.8330C>A (p.Pro2777His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:27374306|PMID:28492532|PMID:28784889|PMID:28798025 10056763 CV197127 NM_004415.4(DSP):c.8531G>T (p.Gly2844Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24598986|PMID:25741868|PMID:28492532|PMID:29555771 10056764 CV197017 NM_004415.4(DSP):c.47G>C (p.Arg16Pro) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056774 CV197069 NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:20716751|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29062697|PMID:31402444|PMID:31983221|PMID:32372669 10056776 CV197104 NM_004415.4(DSP):c.6273del (p.Ala2092fs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:24033266|PMID:28492532 10056781 CV197126 NM_004415.4(DSP):c.8529_8540del (p.2827_2830SGSR[4]) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:21636032|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532 10056785 CV197070 NM_004415.4(DSP):c.3800G>A (p.Arg1267Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056786 CV197073 NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056788 CV197098 NM_004415.4(DSP):c.6055G>T (p.Ala2019Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24967631|PMID:25741868|PMID:28492532|PMID:28798025|PMID:31402444|PMID:37589201 10056790 CV197105 NM_004415.4(DSP):c.6319G>C (p.Val2107Leu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:20716751|PMID:25741868|PMID:28492532 10056791 CV197116 NM_004415.4(DSP):c.7575C>T (p.Gly2525=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056807 CV196456 NM_170707.4(LMNA):c.344A>T (p.Glu115Val) variant HP:0001644 Dilated cardiomyopathy IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:29237675 10056807 CV196456 NM_170707.4(LMNA):c.344A>T (p.Glu115Val) variant HP:0009830 Peripheral neuropathy IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532|PMID:29237675 10056809 CV196461 NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:11503164|PMID:12629077|PMID:12927431|PMID:14615128|PMID:16174718|PMID:25741868|PMID:262236|PMID:27506821|PMID:27884249|PMID:28492532|PMID:31980526|PMID:32727917|PMID:34999423 10056809 CV196461 NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) variant HP:0001644 Dilated cardiomyopathy IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy PMID:11503164|PMID:12629077|PMID:12927431|PMID:14615128|PMID:16174718|PMID:25741868|PMID:262236|PMID:27506821|PMID:27884249|PMID:28492532|PMID:31980526|PMID:32727917|PMID:34999423 10056810 CV196462 NM_170707.4(LMNA):c.466C>T (p.Arg156Cys) variant HP:0001644 Dilated cardiomyopathy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE PMID:25741868|PMID:28492532 10056811 CV196463 NM_170707.4(LMNA):c.471G>A (p.Thr157=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:11102973|PMID:17377071|PMID:22326558|PMID:23853504|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 10056811 CV196463 NM_170707.4(LMNA):c.471G>A (p.Thr157=) variant HP:0001644 Dilated cardiomyopathy IAGP H RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE PMID:11102973|PMID:17377071|PMID:22326558|PMID:23853504|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 10056813 CV196467 NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) variant HP:0001678 Atrioventricular block IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Atrioventricular block PMID:17377071|PMID:23183350|PMID:24033266|PMID:25741868|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29943882|PMID:30007954|PMID:30420677|PMID:32155092|PMID:33673806|PMID:34975533 10056816 CV196470 NM_170707.4(LMNA):c.768G>A (p.Val256=) variant HP:0001644 Dilated cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE PMID:24033266|PMID:25741868|PMID:28492532|PMID:28679633|PMID:4740717 10056817 CV196473 NM_170707.4(LMNA):c.871G>A (p.Glu291Lys) variant HP:0001644 Dilated cardiomyopathy IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy PMID:17377071|PMID:20301609|PMID:20301717|PMID:25498755|PMID:25741868 10056818 CV196479 NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:17377071|PMID:25741868|PMID:28082330|PMID:28492532|PMID:28663758|PMID:29773157|PMID:30847666|PMID:31383942|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36646731|PMID:37246508 10056818 CV196479 NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) variant HP:0001644 Dilated cardiomyopathy IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy PMID:17377071|PMID:25741868|PMID:28082330|PMID:28492532|PMID:28663758|PMID:29773157|PMID:30847666|PMID:31383942|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36646731|PMID:37246508 10056823 CV196488 NM_170707.4(LMNA):c.1880G>A (p.Arg627His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:31264968 10056823 CV196488 NM_170707.4(LMNA):c.1880G>A (p.Arg627His) variant HP:0001644 Dilated cardiomyopathy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE PMID:25741868|PMID:28492532|PMID:31264968 10056839 CV196468 NM_170707.4(LMNA):c.647G>A (p.Arg216His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23183350|PMID:25741868|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29892087|PMID:29943882|PMID:30007954|PMID:30420677|PMID:32376792|PMID:32880476|PMID:34495297|PMID:34768595|PMID:36971006 10056839 CV196468 NM_170707.4(LMNA):c.647G>A (p.Arg216His) variant HP:0001644 Dilated cardiomyopathy IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy PMID:23183350|PMID:25741868|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29892087|PMID:29943882|PMID:30007954|PMID:30420677|PMID:32376792|PMID:32880476|PMID:34495297|PMID:34768595|PMID:36971006 10056840 CV196480 NM_170707.4(LMNA):c.1401G>A (p.Trp467Ter) variant HP:0001644 Dilated cardiomyopathy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE PMID:18585512|PMID:18926329|PMID:25741868|PMID:28333919|PMID:28492532 10056842 CV196487 NM_005572.4(LMNA):c.1714C>T (p.Arg572Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056861 CV197521 NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) variant HP:0000843 Hyperparathyroidism IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism PMID:12652570|PMID:23321498|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30755392|PMID:30869828|PMID:31431315|PMID:32130200|PMID:32761341|PMID:34313384|PMID:34939938 10056861 CV197521 NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) variant HP:0001332 Dystonia IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dystonia PMID:12652570|PMID:23321498|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30755392|PMID:30869828|PMID:31431315|PMID:32130200|PMID:32761341|PMID:34313384|PMID:34939938 10056861 CV197521 NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) variant HP:0002376 Developmental regression IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental regression PMID:12652570|PMID:23321498|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30755392|PMID:30869828|PMID:31431315|PMID:32130200|PMID:32761341|PMID:34313384|PMID:34939938 10056861 CV197521 NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) variant HP:0002415 Leukodystrophy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:12652570|PMID:23321498|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30755392|PMID:30869828|PMID:31431315|PMID:32130200|PMID:32761341|PMID:34313384|PMID:34939938 10056861 CV197521 NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) variant HP:0002500 Abnormal cerebral white matter morphology IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebral white matter PMID:12652570|PMID:23321498|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30755392|PMID:30869828|PMID:31431315|PMID:32130200|PMID:32761341|PMID:34313384|PMID:34939938 10056902 CV196756 NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp) variant HP:0003563 Decreased LDL cholesterol concentration IAGP H RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hypobetalipoproteinemia PMID:16211558|PMID:16465619|PMID:17804797|PMID:19022446|PMID:19191301|PMID:21943799|PMID:23663650|PMID:24252255|PMID:24808179|PMID:25741868|PMID:25744035|PMID:26332594|PMID:26467025|PMID:27516387|PMID:27765764|PMID:28008010|PMID:28492532|PMID:29127338|PMID:29259136|PMID:30710474|PMID:31106297|PMID:33147992 10056903 CV196758 NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) variant HP:0003563 Decreased LDL cholesterol concentration IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Hypobetalipoproteinemia PMID:16183066|PMID:16571601|PMID:16912035|PMID:17380167|PMID:17765244|PMID:19081568|PMID:19191301|PMID:23375686|PMID:24033266|PMID:24808179|PMID:25741868|PMID:26374825|PMID:26633542|PMID:27206942|PMID:27280970|PMID:28008010|PMID:28492532|PMID:28777095|PMID:28994502|PMID:29259136|PMID:29724976|PMID:30293936|PMID:31491741|PMID:31949048|PMID:32044282|PMID:32058034|PMID:32719484|PMID:33147992|PMID:33269076|PMID:33303402|PMID:33533259|PMID:34521694|PMID:34526433|PMID:35929461|PMID:36087353|PMID:37469559 10056905 CV197379 NM_020975.6(RET):c.2542A>G (p.Met848Val) variant HP:0002666 Pheochromocytoma IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:25741868|PMID:28492532 10056910 CV197386 NM_020975.6(RET):c.3314C>T (p.Ala1105Val) variant HP:0002666 Pheochromocytoma IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:22729463|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33827484 10056913 CV197378 NM_020975.6(RET):c.2234A>T (p.His745Leu) variant HP:0002666 Pheochromocytoma IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:25741868 10056916 CV198033 NM_000540.3(RYR1):c.14304-6C>A variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:25741868|PMID:28492532 10056918 CV198022 NM_000540.3(RYR1):c.2645C>T (p.Ala882Val) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:24215330|PMID:25741868|PMID:28492532|PMID:37937776 10056920 CV198024 NM_000540.3(RYR1):c.3236C>G (p.Ser1079Cys) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:25741868|PMID:28492532 10056924 CV198028 NM_000540.3(RYR1):c.5384C>T (p.Pro1795Leu) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:25741868|PMID:28492532 10056925 CV198031 NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:12565913|PMID:25741868|PMID:25987458|PMID:27447704|PMID:28492532|PMID:32236737|PMID:33333461|PMID:34463354|PMID:34535181|PMID:34809703 10056927 CV198035 NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:24706162|PMID:25637381|PMID:25741868|PMID:25882082|PMID:28492532|PMID:30155320 10056927 CV198035 NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu) variant HP:0034733 Anesthesic-triggered malignant hyperthermia IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Anesthesic-triggered malignant hyperthermia PMID:24706162|PMID:25637381|PMID:25741868|PMID:25882082|PMID:28492532|PMID:30155320 10056929 CV198021 NM_000540.3(RYR1):c.2551G>A (p.Val851Met) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:25741868|PMID:28492532 10056930 CV198027 NM_000540.3(RYR1):c.5234C>G (p.Thr1745Arg) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:25741868 10056931 CV198030 NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26994242|PMID:28003660|PMID:28492532 10056931 CV198030 NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) variant HP:0003789 Minicore myopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:25741868|PMID:26994242|PMID:28003660|PMID:28492532 10056931 CV198030 NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) variant HP:0034733 Anesthesic-triggered malignant hyperthermia IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Anesthesic-triggered malignant hyperthermia PMID:25741868|PMID:26994242|PMID:28003660|PMID:28492532 10056933 CV196542 NM_001035.3(RYR2):c.1319C>T (p.Ala440Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056933 CV196542 NM_001035.3(RYR2):c.1319C>T (p.Ala440Val) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10056934 CV196564 NM_001035.3(RYR2):c.2482C>T (p.Pro828Ser) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10056935 CV196577 NM_001035.3(RYR2):c.3517A>G (p.Met1173Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056935 CV196577 NM_001035.3(RYR2):c.3517A>G (p.Met1173Val) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10056936 CV196582 NM_001035.3(RYR2):c.3897C>G (p.Ile1299Met) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056938 CV196588 NM_001035.3(RYR2):c.4096A>G (p.Thr1366Ala) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056938 CV196588 NM_001035.3(RYR2):c.4096A>G (p.Thr1366Ala) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10056939 CV196595 NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23595086|PMID:25741868|PMID:26332594|PMID:26498160|PMID:27538377|PMID:27756708|PMID:28492532 10056940 CV196661 NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25041964|PMID:25741868|PMID:28404607|PMID:28492532|PMID:31402444|PMID:31568572|PMID:34213952|PMID:37904629 10056940 CV196661 NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:24033266|PMID:25041964|PMID:25741868|PMID:28404607|PMID:28492532|PMID:31402444|PMID:31568572|PMID:34213952|PMID:37904629 10056941 CV196722 NM_001035.3(RYR2):c.12826G>A (p.Val4276Met) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056942 CV196724 NM_001035.3(RYR2):c.12917T>C (p.Phe4306Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26569459|PMID:28492532 10056947 CV196510 NM_001035.3(RYR2):c.458C>T (p.Thr153Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28404607|PMID:28449774|PMID:28492532|PMID:31337358|PMID:37589201 10056947 CV196510 NM_001035.3(RYR2):c.458C>T (p.Thr153Ile) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28404607|PMID:28449774|PMID:28492532|PMID:31337358|PMID:37589201 10056954 CV196520 NM_001035.3(RYR2):c.719A>C (p.His240Pro) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868 10056960 CV196529 NM_001035.3(RYR2):c.893G>A (p.Arg298His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056960 CV196529 NM_001035.3(RYR2):c.893G>A (p.Arg298His) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10056961 CV196530 NM_001035.3(RYR2):c.963A>T (p.Lys321Asn) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868 10056964 CV196533 NM_001035.3(RYR2):c.1144G>A (p.Val382Met) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28404607|PMID:28492532|PMID:30847666 10056964 CV196533 NM_001035.3(RYR2):c.1144G>A (p.Val382Met) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28404607|PMID:28492532|PMID:30847666 10056965 CV196534 NM_001035.3(RYR2):c.1172C>G (p.Ala391Gly) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28404607|PMID:28492532 10056965 CV196534 NM_001035.3(RYR2):c.1172C>G (p.Ala391Gly) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28404607|PMID:28492532 10056967 CV196538 NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:15466642|PMID:15887426|PMID:16188589|PMID:16436635|PMID:19926015|PMID:21478052|PMID:21964171|PMID:23152493|PMID:24025405|PMID:25741868|PMID:28492532 10056967 CV196538 NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:15466642|PMID:15887426|PMID:16188589|PMID:16436635|PMID:19926015|PMID:21478052|PMID:21964171|PMID:23152493|PMID:24025405|PMID:25741868|PMID:28492532 10056969 CV196540 NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:12106942|PMID:12459180|PMID:15544015|PMID:17062961|PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22787013|PMID:23549275|PMID:23871484|PMID:24025405|PMID:24033266|PMID:25087098|PMID:25193700|PMID:25440180|PMID:25741868|PMID:26153920|PMID:26743238|PMID:27114410|PMID:27452199|PMID:27538377|PMID:27646203|PMID:28158428|PMID:28422759|PMID:28449774|PMID:28492532|PMID:29477366 10056969 CV196540 NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) variant HP:0001663 Ventricular fibrillation IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:12106942|PMID:12459180|PMID:15544015|PMID:17062961|PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22787013|PMID:23549275|PMID:23871484|PMID:24025405|PMID:24033266|PMID:25087098|PMID:25193700|PMID:25440180|PMID:25741868|PMID:26153920|PMID:26743238|PMID:27114410|PMID:27452199|PMID:27538377|PMID:27646203|PMID:28158428|PMID:28422759|PMID:28449774|PMID:28492532|PMID:29477366 10056969 CV196540 NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:12106942|PMID:12459180|PMID:15544015|PMID:17062961|PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22787013|PMID:23549275|PMID:23871484|PMID:24025405|PMID:24033266|PMID:25087098|PMID:25193700|PMID:25440180|PMID:25741868|PMID:26153920|PMID:26743238|PMID:27114410|PMID:27452199|PMID:27538377|PMID:27646203|PMID:28158428|PMID:28422759|PMID:28449774|PMID:28492532|PMID:29477366 10056970 CV196541 NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22787013|PMID:23595086|PMID:23871484|PMID:25440180|PMID:25554238|PMID:25741868|PMID:26114861|PMID:26132555|PMID:26153920|PMID:27452199|PMID:28422759|PMID:28449774|PMID:28492532 10056972 CV196545 NM_001035.3(RYR2):c.1561G>A (p.Glu521Lys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056973 CV196546 NM_001035.3(RYR2):c.1614G>A (p.Ala538=) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056973 CV196546 NM_001035.3(RYR2):c.1614G>A (p.Ala538=) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10056975 CV196549 NM_001035.3(RYR2):c.1675A>G (p.Ile559Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056977 CV196552 NM_001035.3(RYR2):c.1775G>A (p.Gly592Glu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056977 CV196552 NM_001035.3(RYR2):c.1775G>A (p.Gly592Glu) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10056980 CV196555 NM_001035.3(RYR2):c.1973A>G (p.Asn658Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:29453246|PMID:30615648|PMID:31155924|PMID:31513939|PMID:37477868 10056980 CV196555 NM_001035.3(RYR2):c.1973A>G (p.Asn658Ser) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:29453246|PMID:30615648|PMID:31155924|PMID:31513939|PMID:37477868 10056980 CV196555 NM_001035.3(RYR2):c.1973A>G (p.Asn658Ser) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532|PMID:29453246|PMID:30615648|PMID:31155924|PMID:31513939|PMID:37477868 10056981 CV196556 NM_001035.3(RYR2):c.2038G>A (p.Asp680Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10056981 CV196556 NM_001035.3(RYR2):c.2038G>A (p.Asp680Asn) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868 10056982 CV196558 NM_001035.3(RYR2):c.2138G>C (p.Trp713Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056982 CV196558 NM_001035.3(RYR2):c.2138G>C (p.Trp713Ser) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10056983 CV196561 NM_001035.3(RYR2):c.2350A>T (p.Ile784Phe) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:33664309 10056983 CV196561 NM_001035.3(RYR2):c.2350A>T (p.Ile784Phe) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532|PMID:33664309 10056984 CV196563 NM_001035.3(RYR2):c.2399T>C (p.Val800Ala) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056984 CV196563 NM_001035.3(RYR2):c.2399T>C (p.Val800Ala) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10056986 CV196567 NM_001035.3(RYR2):c.2629C>T (p.His877Tyr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056986 CV196567 NM_001035.3(RYR2):c.2629C>T (p.His877Tyr) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10056987 CV196569 NM_001035.3(RYR2):c.2828T>C (p.Leu943Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25351510|PMID:25741868|PMID:28074886|PMID:28404607|PMID:28492532|PMID:29396561|PMID:31112425|PMID:32152366|PMID:32508047 10056987 CV196569 NM_001035.3(RYR2):c.2828T>C (p.Leu943Ser) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25351510|PMID:25741868|PMID:28074886|PMID:28404607|PMID:28492532|PMID:29396561|PMID:31112425|PMID:32152366|PMID:32508047 10056989 CV196571 NM_001035.3(RYR2):c.3025C>T (p.Arg1009Trp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28404607|PMID:28492532|PMID:30615648|PMID:35026164 10056989 CV196571 NM_001035.3(RYR2):c.3025C>T (p.Arg1009Trp) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28404607|PMID:28492532|PMID:30615648|PMID:35026164 10056990 CV196573 NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:19216760|PMID:23396983|PMID:24033266|PMID:25741868|PMID:25925909|PMID:27153395|PMID:27532257|PMID:28404607|PMID:28492532|PMID:29368431|PMID:30847666 10056990 CV196573 NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:19216760|PMID:23396983|PMID:24033266|PMID:25741868|PMID:25925909|PMID:27153395|PMID:27532257|PMID:28404607|PMID:28492532|PMID:29368431|PMID:30847666 10056991 CV196574 NM_001035.3(RYR2):c.3164G>A (p.Arg1055His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:32009526 10056991 CV196574 NM_001035.3(RYR2):c.3164G>A (p.Arg1055His) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532|PMID:32009526 10056992 CV196575 NM_001035.3(RYR2):c.3295G>A (p.Gly1099Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056992 CV196575 NM_001035.3(RYR2):c.3295G>A (p.Gly1099Arg) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10056993 CV196576 NM_001035.3(RYR2):c.3425C>T (p.Ala1142Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10056996 CV196581 NM_001035.3(RYR2):c.3823G>A (p.Gly1275Ser) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10056998 CV196586 NM_001035.3(RYR2):c.4010A>G (p.Tyr1337Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:31513939 10056998 CV196586 NM_001035.3(RYR2):c.4010A>G (p.Tyr1337Cys) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:31513939 10056998 CV196586 NM_001035.3(RYR2):c.4010A>G (p.Tyr1337Cys) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532|PMID:31513939 10057000 CV196590 NM_001035.3(RYR2):c.4361A>G (p.Asp1454Gly) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057000 CV196590 NM_001035.3(RYR2):c.4361A>G (p.Asp1454Gly) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10057003 CV196593 NM_001035.3(RYR2):c.4585A>C (p.Thr1529Pro) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28404607|PMID:32746448 10057003 CV196593 NM_001035.3(RYR2):c.4585A>C (p.Thr1529Pro) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28404607|PMID:32746448 10057004 CV196596 NM_001035.3(RYR2):c.4693C>G (p.Pro1565Ala) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23810894|PMID:25616645|PMID:25741868|PMID:25820315|PMID:28404607|PMID:28492532|PMID:31402444|PMID:32048431 10057005 CV196597 NM_001035.3(RYR2):c.4780G>A (p.Val1594Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057006 CV196598 NM_001035.3(RYR2):c.4828C>T (p.Arg1610Ter) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10057007 CV196600 NM_001035.3(RYR2):c.4912T>A (p.Ser1638Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057008 CV196601 NM_001035.3(RYR2):c.4990G>T (p.Val1664Phe) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:29453246|PMID:33500567 10057008 CV196601 NM_001035.3(RYR2):c.4990G>T (p.Val1664Phe) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:24033266|PMID:25741868|PMID:28492532|PMID:29453246|PMID:33500567 10057009 CV196603 NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16272262|PMID:19926015|PMID:21616285|PMID:22787013|PMID:24025405|PMID:26114861|PMID:27452199|PMID:28237968|PMID:28492532|PMID:29032884|PMID:29434162|PMID:31112425 10057010 CV196605 NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28404607|PMID:28492532|PMID:35353122 10057010 CV196605 NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28404607|PMID:28492532|PMID:35353122 10057012 CV196607 NM_001035.3(RYR2):c.5717T>C (p.Met1906Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:29951146|PMID:33658040 10057012 CV196607 NM_001035.3(RYR2):c.5717T>C (p.Met1906Thr) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532|PMID:29951146|PMID:33658040 10057013 CV196608 NM_001035.3(RYR2):c.5761C>T (p.Arg1921Trp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28404607|PMID:28492532|PMID:29453246 10057013 CV196608 NM_001035.3(RYR2):c.5761C>T (p.Arg1921Trp) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28404607|PMID:28492532|PMID:29453246 10057014 CV196609 NM_001035.3(RYR2):c.5762G>A (p.Arg1921Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:29544603|PMID:32152366 10057014 CV196609 NM_001035.3(RYR2):c.5762G>A (p.Arg1921Gln) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532|PMID:29544603|PMID:32152366 10057015 CV196610 NM_001035.3(RYR2):c.5821C>A (p.Arg1941Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057015 CV196610 NM_001035.3(RYR2):c.5821C>A (p.Arg1941Ser) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10057017 CV196612 NM_001035.3(RYR2):c.6445A>G (p.Ile2149Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28404607|PMID:28492532 10057017 CV196612 NM_001035.3(RYR2):c.6445A>G (p.Ile2149Val) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28404607|PMID:28492532 10057029 CV196630 NM_001035.3(RYR2):c.7114C>A (p.Leu2372Ile) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10057031 CV196632 NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:15131021|PMID:16188589|PMID:16391617|PMID:19398665|PMID:19926015|PMID:20106799|PMID:22221940|PMID:23595086|PMID:24025405|PMID:24033266|PMID:24136861|PMID:25741868|PMID:26189708|PMID:28237968|PMID:28492532|PMID:28600387|PMID:29434162|PMID:29453246|PMID:30847666|PMID:31112425|PMID:31737537|PMID:33825858 10057038 CV196640 NM_001035.3(RYR2):c.7925G>A (p.Arg2642Lys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057038 CV196640 NM_001035.3(RYR2):c.7925G>A (p.Arg2642Lys) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10057039 CV196642 NM_001035.3(RYR2):c.8041A>T (p.Met2681Leu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057039 CV196642 NM_001035.3(RYR2):c.8041A>T (p.Met2681Leu) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10057040 CV196648 NM_001035.3(RYR2):c.8408G>A (p.Arg2803Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057040 CV196648 NM_001035.3(RYR2):c.8408G>A (p.Arg2803Gln) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10057042 CV196502 NM_001035.3(RYR2):c.19G>A (p.Gly7Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:28686619|PMID:33179747|PMID:36070930|PMID:37328711 10057042 CV196502 NM_001035.3(RYR2):c.19G>A (p.Gly7Ser) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532|PMID:28686619|PMID:33179747|PMID:36070930|PMID:37328711 10057044 CV196504 NM_001035.3(RYR2):c.37T>C (p.Phe13Leu) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532|PMID:29884292|PMID:30197081|PMID:31112425|PMID:32152366|PMID:35931078 10057045 CV196652 NM_001035.3(RYR2):c.9085A>G (p.Ile3029Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057045 CV196652 NM_001035.3(RYR2):c.9085A>G (p.Ile3029Val) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10057046 CV196653 NM_001035.3(RYR2):c.9125C>A (p.Ala3042Glu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057046 CV196653 NM_001035.3(RYR2):c.9125C>A (p.Ala3042Glu) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10057049 CV196657 NM_001035.3(RYR2):c.9412T>C (p.Tyr3138His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057050 CV196658 NM_001035.3(RYR2):c.9518C>T (p.Thr3173Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28404607|PMID:28492532 10057050 CV196658 NM_001035.3(RYR2):c.9518C>T (p.Thr3173Ile) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28404607|PMID:28492532 10057051 CV196660 NM_001035.3(RYR2):c.9625C>A (p.Pro3209Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057051 CV196660 NM_001035.3(RYR2):c.9625C>A (p.Pro3209Thr) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10057052 CV196662 NM_001035.3(RYR2):c.9820A>G (p.Asn3274Asp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057053 CV196663 NM_001035.3(RYR2):c.9911A>G (p.Gln3304Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057053 CV196663 NM_001035.3(RYR2):c.9911A>G (p.Gln3304Arg) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10057056 CV196668 NM_001035.3(RYR2):c.10523T>C (p.Ile3508Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28404607|PMID:28492532|PMID:28771489|PMID:35026164 10057056 CV196668 NM_001035.3(RYR2):c.10523T>C (p.Ile3508Thr) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28404607|PMID:28492532|PMID:28771489|PMID:35026164 10057057 CV196669 NM_001035.3(RYR2):c.10528C>A (p.Arg3510Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28404607|PMID:28492532|PMID:29247119|PMID:29396561|PMID:32508047 10057057 CV196669 NM_001035.3(RYR2):c.10528C>A (p.Arg3510Ser) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:24033266|PMID:25741868|PMID:28404607|PMID:28492532|PMID:29247119|PMID:29396561|PMID:32508047 10057058 CV196670 NM_001035.3(RYR2):c.10529G>A (p.Arg3510His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28404607|PMID:28492532 10057058 CV196670 NM_001035.3(RYR2):c.10529G>A (p.Arg3510His) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28404607|PMID:28492532 10057060 CV196672 NM_001035.3(RYR2):c.10640C>T (p.Thr3547Met) variant HP:0001635 Congestive heart failure IAGP H RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28404607|PMID:28492532 10057060 CV196672 NM_001035.3(RYR2):c.10640C>T (p.Thr3547Met) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28404607|PMID:28492532 10057060 CV196672 NM_001035.3(RYR2):c.10640C>T (p.Thr3547Met) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28404607|PMID:28492532 10057063 CV196676 NM_001035.3(RYR2):c.11140T>G (p.Phe3714Val) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10057067 CV196682 NM_001035.3(RYR2):c.11497G>A (p.Asp3833Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26743238|PMID:28492532|PMID:28771489|PMID:30615648|PMID:32152366 10057067 CV196682 NM_001035.3(RYR2):c.11497G>A (p.Asp3833Asn) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:26743238|PMID:28492532|PMID:28771489|PMID:30615648|PMID:32152366 10057071 CV196689 NM_001035.3(RYR2):c.11919T>G (p.Asp3973Glu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28404607|PMID:28492532|PMID:29453246|PMID:32233023 10057071 CV196689 NM_001035.3(RYR2):c.11919T>G (p.Asp3973Glu) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28404607|PMID:28492532|PMID:29453246|PMID:32233023 10057076 CV196697 NM_001035.3(RYR2):c.12077T>G (p.Leu4026Trp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10057076 CV196697 NM_001035.3(RYR2):c.12077T>G (p.Leu4026Trp) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868 10057077 CV196698 NM_001035.3(RYR2):c.12217G>A (p.Asp4073Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10057077 CV196698 NM_001035.3(RYR2):c.12217G>A (p.Asp4073Asn) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868 10057078 CV196699 NM_001035.3(RYR2):c.12239A>G (p.Tyr4080Cys) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532|PMID:31112425 10057080 CV196702 NM_001035.3(RYR2):c.12272C>T (p.Ala4091Val) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19398665|PMID:26132555|PMID:26256814|PMID:28492532|PMID:31112425 10057081 CV196703 NM_001035.3(RYR2):c.12283G>A (p.Gly4095Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:34691145|PMID:35932045 10057081 CV196703 NM_001035.3(RYR2):c.12283G>A (p.Gly4095Ser) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532|PMID:34691145|PMID:35932045 10057083 CV196705 NM_001035.3(RYR2):c.12298G>A (p.Val4100Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057083 CV196705 NM_001035.3(RYR2):c.12298G>A (p.Val4100Ile) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10057087 CV196709 NM_001035.3(RYR2):c.12427A>C (p.Lys4143Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057087 CV196709 NM_001035.3(RYR2):c.12427A>C (p.Lys4143Gln) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10057090 CV196714 NM_001035.3(RYR2):c.12545A>C (p.Glu4182Ala) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:19926015|PMID:25741868|PMID:28492532 10057096 CV196721 NM_001035.3(RYR2):c.12700G>A (p.Ala4234Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057096 CV196721 NM_001035.3(RYR2):c.12700G>A (p.Ala4234Thr) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10057099 CV196727 NM_001035.3(RYR2):c.13270G>C (p.Ala4424Pro) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868 10057103 CV196673 NM_001035.3(RYR2):c.10897G>A (p.Glu3633Lys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057103 CV196673 NM_001035.3(RYR2):c.10897G>A (p.Glu3633Lys) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10057106 CV196734 NM_001035.3(RYR2):c.13666G>C (p.Ala4556Pro) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23671135|PMID:25741868|PMID:27538377|PMID:28492532|PMID:28798025 10057106 CV196734 NM_001035.3(RYR2):c.13666G>C (p.Ala4556Pro) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:23671135|PMID:25741868|PMID:27538377|PMID:28492532|PMID:28798025 10057109 CV196739 NM_001035.3(RYR2):c.14159T>C (p.Leu4720Pro) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:25741905|PMID:39481677 10057111 CV196742 NM_001035.3(RYR2):c.14288A>G (p.Asn4763Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:29453246|PMID:29915097|PMID:31535183 10057119 CV196750 NM_001035.3(RYR2):c.14869T>A (p.Cys4957Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057119 CV196750 NM_001035.3(RYR2):c.14869T>A (p.Cys4957Ser) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10057121 CV196752 NM_001035.3(RYR2):c.14884T>A (p.Tyr4962Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:22787013|PMID:24025405|PMID:25741868|PMID:28492532 10057121 CV196752 NM_001035.3(RYR2):c.14884T>A (p.Tyr4962Asn) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:22787013|PMID:24025405|PMID:25741868|PMID:28492532 10057123 CV196505 NM_001035.3(RYR2):c.184C>T (p.Leu62Phe) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:19926015|PMID:23871484|PMID:25741868|PMID:28492532|PMID:29453246 10057123 CV196505 NM_001035.3(RYR2):c.184C>T (p.Leu62Phe) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:19926015|PMID:23871484|PMID:25741868|PMID:28492532|PMID:29453246 10057125 CV196523 NM_001035.3(RYR2):c.796G>A (p.Ala266Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:29247119 10057125 CV196523 NM_001035.3(RYR2):c.796G>A (p.Ala266Thr) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532|PMID:29247119 10057126 CV196527 NM_001035.3(RYR2):c.848+1G>A variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:16199547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29453246|PMID:37347419 10057126 CV196527 NM_001035.3(RYR2):c.848+1G>A variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:16199547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29453246|PMID:37347419 10057129 CV196544 NM_001035.3(RYR2):c.1454G>A (p.Arg485Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26656175|PMID:27054166|PMID:28404607|PMID:28492532|PMID:30403697|PMID:30471092|PMID:34088380 10057129 CV196544 NM_001035.3(RYR2):c.1454G>A (p.Arg485Gln) variant HP:0004756 Ventricular tachycardia IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:26656175|PMID:27054166|PMID:28404607|PMID:28492532|PMID:30403697|PMID:30471092|PMID:34088380 10057129 CV196544 NM_001035.3(RYR2):c.1454G>A (p.Arg485Gln) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:26656175|PMID:27054166|PMID:28404607|PMID:28492532|PMID:30403697|PMID:30471092|PMID:34088380 10057132 CV196557 NM_001035.3(RYR2):c.2050C>A (p.Pro684Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:30847666 10057132 CV196557 NM_001035.3(RYR2):c.2050C>A (p.Pro684Thr) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532|PMID:30847666 10057133 CV196568 NM_001035.3(RYR2):c.2656G>T (p.Ala886Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10057134 CV196572 NM_001035.3(RYR2):c.3037C>T (p.Arg1013Trp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26220970|PMID:28492532|PMID:29899727 10057134 CV196572 NM_001035.3(RYR2):c.3037C>T (p.Arg1013Trp) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:26220970|PMID:28492532|PMID:29899727 10057135 CV196583 NM_001035.3(RYR2):c.3899T>C (p.Met1300Thr) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10057136 CV196587 NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057137 CV196599 NM_001035.3(RYR2):c.4882A>G (p.Met1628Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057137 CV196599 NM_001035.3(RYR2):c.4882A>G (p.Met1628Val) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10057138 CV196602 NM_001035.3(RYR2):c.5096G>A (p.Arg1699His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:29453246 10057138 CV196602 NM_001035.3(RYR2):c.5096G>A (p.Arg1699His) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532|PMID:29453246 10057140 CV196616 NM_001035.3(RYR2):c.6532G>A (p.Val2178Ile) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:22787013|PMID:25741868|PMID:28492532 10057143 CV196643 NM_001035.3(RYR2):c.8205C>A (p.Asp2735Glu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057143 CV196643 NM_001035.3(RYR2):c.8205C>A (p.Asp2735Glu) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10057144 CV196644 NM_001035.3(RYR2):c.8228A>G (p.Tyr2743Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057144 CV196644 NM_001035.3(RYR2):c.8228A>G (p.Tyr2743Cys) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10057145 CV196645 NM_001035.3(RYR2):c.8262G>C (p.Gln2754His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28404607|PMID:28492532|PMID:29453246 10057145 CV196645 NM_001035.3(RYR2):c.8262G>C (p.Gln2754His) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28404607|PMID:28492532|PMID:29453246 10057146 CV196647 NM_001035.3(RYR2):c.8378G>A (p.Arg2793Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28404607|PMID:28492532 10057146 CV196647 NM_001035.3(RYR2):c.8378G>A (p.Arg2793Gln) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28404607|PMID:28492532 10057148 CV196659 NM_001035.3(RYR2):c.9569G>A (p.Arg3190Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25351510|PMID:25741868|PMID:28237968|PMID:28492532|PMID:31195250|PMID:35668055 10057148 CV196659 NM_001035.3(RYR2):c.9569G>A (p.Arg3190Gln) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25351510|PMID:25741868|PMID:28237968|PMID:28492532|PMID:31195250|PMID:35668055 10057150 CV196666 NM_001035.3(RYR2):c.10266G>C (p.Gln3422His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25041964|PMID:25741868|PMID:28492532|PMID:35819174 10057150 CV196666 NM_001035.3(RYR2):c.10266G>C (p.Gln3422His) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25041964|PMID:25741868|PMID:28492532|PMID:35819174 10057152 CV196690 NM_001035.3(RYR2):c.11934G>A (p.Met3978Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10057155 CV196712 NM_001035.3(RYR2):c.12526G>A (p.Val4176Met) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10057155 CV196712 NM_001035.3(RYR2):c.12526G>A (p.Val4176Met) variant HP:0004758 Effort-induced polymorphic ventricular tachycardia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868 10057165 CV196720 NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28404607|PMID:28492532|PMID:29453246|PMID:30975432 10057167 CV196993 NM_000335.5(SCN5A):c.857C>T (p.Ala286Val) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10057168 CV196908 NM_000335.5(SCN5A):c.3537G>A (p.Ala1179=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:25741868|PMID:28492532 10057171 CV197003 NM_000335.5(SCN5A):c.611+1G>A variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:16199547|PMID:19167345|PMID:20129283|PMID:20301690|PMID:22789973|PMID:24606995|PMID:25741868|PMID:26111534|PMID:26798387|PMID:28492532|PMID:29709101|PMID:29798782|PMID:29806494|PMID:29884292|PMID:31737537|PMID:32893267|PMID:36143288|PMID:37746560 10057172 CV197014 NM_000335.5(SCN5A):c.86C>T (p.Ala29Val) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23098067|PMID:25741868|PMID:28492532|PMID:28611029|PMID:33221895 10057173 CV197012 NM_000335.5(SCN5A):c.262A>G (p.Ser88Gly) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:32746448|PMID:32880476 10057177 CV197007 NM_000335.5(SCN5A):c.539G>T (p.Gly180Val) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868 10057181 CV197002 NM_001099404.2(SCN5A):c.615T>A (p.Tyr205Ter) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:22064211|PMID:24033266|PMID:25741868 10057182 CV196998 NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:19716085|PMID:20129283|PMID:22277643|PMID:22789973|PMID:25741868|PMID:26173111|PMID:26467377|PMID:27232914|PMID:27287068|PMID:28492532|PMID:30193851|PMID:31447099|PMID:32048431|PMID:32893267|PMID:34546463 10057188 CV196995 NM_000335.5(SCN5A):c.787G>A (p.Val263Ile) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:33552729|PMID:36516610 10057190 CV196992 NM_000335.5(SCN5A):c.889G>A (p.Asp297Asn) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:25741868|PMID:28492532 10057193 CV196985 NM_000335.5(SCN5A):c.1247A>G (p.Tyr416Cys) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:25741868|PMID:28069705 10057194 CV196984 NM_000335.5(SCN5A):c.1273G>A (p.Ala425Thr) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:30059973 10057195 CV196983 NM_000335.5(SCN5A):c.1355G>A (p.Gly452Asp) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:25741868|PMID:28492532 10057196 CV196981 NM_000335.5(SCN5A):c.1373G>A (p.Arg458His) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23299917|PMID:25741868|PMID:25904541|PMID:28492532 10057197 CV196980 NM_000335.5(SCN5A):c.1398G>T (p.Leu466Phe) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:24721456|PMID:25741868|PMID:28492532|PMID:32893267|PMID:36588553 10057200 CV196976 NM_000335.5(SCN5A):c.1537C>T (p.Arg513Cys) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:25904541|PMID:27554632|PMID:28492532|PMID:28878402|PMID:34678660 10057202 CV196973 NM_000335.5(SCN5A):c.1654G>T (p.Gly552Trp) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:25904541|PMID:26746457|PMID:28492532|PMID:31020160|PMID:34930020 10057203 CV196971 NM_000335.5(SCN5A):c.1706G>A (p.Arg569Gln) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:31696929 10057204 CV196968 NM_000335.5(SCN5A):c.1820G>A (p.Gly607Asp) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:32470535|PMID:34935411|PMID:35026164 10057205 CV196967 NM_000335.5(SCN5A):c.1820G>T (p.Gly607Val) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:29038103|PMID:30847666 10057206 CV196963 NM_000335.5(SCN5A):c.1889C>T (p.Thr630Met) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:24613995|PMID:25741868|PMID:28492532|PMID:30847666|PMID:36516610|PMID:37732247 10057210 CV196960 NM_000335.5(SCN5A):c.1939G>T (p.Ala647Ser) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10057211 CV196957 NM_000335.5(SCN5A):c.1993G>T (p.Ala665Ser) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:22216297|PMID:23631430|PMID:25741868|PMID:28492532|PMID:30847666|PMID:33996946|PMID:34127479|PMID:34302607 10057216 CV196949 NM_000335.5(SCN5A):c.2291T>C (p.Met764Thr) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:20129283|PMID:25741868|PMID:29343803|PMID:29907895|PMID:30371189|PMID:32893267 10057217 CV196948 NM_000335.5(SCN5A):c.2330T>A (p.Phe777Tyr) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868 10057218 CV196946 NM_000335.5(SCN5A):c.2431C>T (p.Arg811Cys) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:35052356|PMID:36927930 10057219 CV196942 NM_000335.5(SCN5A):c.2575C>T (p.Gln859Ter) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:20129283|PMID:22789973|PMID:28492532 10057220 CV196940 NM_000335.5(SCN5A):c.2614G>A (p.Asp872Asn) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:26656175|PMID:28492532|PMID:30847666|PMID:32091595 10057223 CV196935 NM_000335.5(SCN5A):c.2756T>C (p.Phe919Ser) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10057225 CV196931 NM_000335.5(SCN5A):c.2848C>T (p.Pro950Ser) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10057226 CV196930 NM_000335.5(SCN5A):c.2859C>G (p.Asp953Glu) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10057227 CV196929 NM_000335.5(SCN5A):c.2924G>A (p.Arg975Gln) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:26746457|PMID:28492532|PMID:29517769|PMID:30847666|PMID:31737537|PMID:36973604 10057228 CV196923 NM_000335.5(SCN5A):c.3061C>T (p.Pro1021Ser) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23174487|PMID:24033266|PMID:25741868|PMID:27566755|PMID:28492532|PMID:30079003 10057229 CV196928 NM_000335.5(SCN5A):c.2956C>T (p.Arg986Trp) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23631430|PMID:25741868|PMID:28492532 10057230 CV196927 NM_000335.5(SCN5A):c.2962C>T (p.Arg988Trp) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23321620|PMID:25741868|PMID:28492532|PMID:30165862|PMID:32268277 10057233 CV196922 NM_000335.5(SCN5A):c.3093C>T (p.Gly1031=) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23098067|PMID:24033266|PMID:25741868|PMID:28492532 10057234 CV196921 NM_000335.5(SCN5A):c.3094G>A (p.Glu1032Lys) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:26669661|PMID:28492532|PMID:30847666 10057235 CV196916 NM_000335.5(SCN5A):c.3232T>A (p.Ser1078Thr) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:25904541|PMID:28492532 10057236 CV196915 NM_000335.5(SCN5A):c.3322A>G (p.Ser1108Gly) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10057238 CV196913 NM_000335.5(SCN5A):c.3401G>T (p.Ser1134Ile) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:24667783|PMID:25741868|PMID:26071830|PMID:28492532|PMID:30847666|PMID:32009526|PMID:32893267 10057239 CV196911 NM_000335.5(SCN5A):c.3464A>G (p.Asp1155Gly) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:31638414|PMID:37461109 10057240 CV196907 NM_000335.5(SCN5A):c.3538G>T (p.Val1180Leu) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10057241 CV196904 NM_000335.5(SCN5A):c.3574C>T (p.Arg1192Trp) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:25904541|PMID:28492532|PMID:31776209|PMID:36721086 10057242 CV196903 NM_000335.5(SCN5A):c.3626T>C (p.Phe1209Ser) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:27635072|PMID:28492532|PMID:30059973|PMID:32893267 10057245 CV196896 NM_000335.5(SCN5A):c.3923G>A (p.Arg1308His) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:26801742|PMID:28492532|PMID:33764691 10057249 CV196891 NM_000335.5(SCN5A):c.4067C>T (p.Ala1356Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23631430|PMID:25741868|PMID:25904541|PMID:27153395|PMID:28492532|PMID:28589536|PMID:30193851|PMID:32893267|PMID:33258288|PMID:35663620 10057249 CV196891 NM_000335.5(SCN5A):c.4067C>T (p.Ala1356Val) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23631430|PMID:25741868|PMID:25904541|PMID:27153395|PMID:28492532|PMID:28589536|PMID:30193851|PMID:32893267|PMID:33258288|PMID:35663620 10057250 CV196890 NM_000335.5(SCN5A):c.4106A>G (p.Asp1369Gly) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:30279931|PMID:32533946 10057252 CV196886 NM_000335.5(SCN5A):c.4242+1G>C variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:16199547|PMID:20129283|PMID:22789973|PMID:23631430|PMID:24033266|PMID:25741868|PMID:28341781|PMID:28492532|PMID:31447099|PMID:34930020 10057257 CV196877 NM_000335.5(SCN5A):c.4394T>C (p.Ile1465Thr) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868 10057258 CV196876 NM_000335.5(SCN5A):c.4400T>C (p.Val1467Ala) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10057259 CV196874 NM_000335.5(SCN5A):c.4406T>C (p.Ile1469Thr) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10057265 CV196863 NM_000335.5(SCN5A):c.4867G>A (p.Val1623Ile) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:29544605|PMID:32893267 10057267 CV196860 NM_000335.5(SCN5A):c.4978G>A (p.Gly1660Arg) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:20129283|PMID:235504|PMID:24136861|PMID:25741868|PMID:28492532|PMID:28781330|PMID:30193851|PMID:32268277|PMID:32533946|PMID:32893267|PMID:35052356|PMID:35305865|PMID:748006 10057270 CV196857 NM_000335.5(SCN5A):c.5024T>C (p.Met1675Thr) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868 10057273 CV196854 NM_000335.5(SCN5A):c.5137G>A (p.Asp1713Asn) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10057274 CV196853 NM_000335.5(SCN5A):c.5141G>C (p.Gly1714Ala) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10057275 CV196852 NM_000335.5(SCN5A):c.5182G>A (p.Asp1728Asn) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:25741868|PMID:28492532 10057276 CV196851 NM_000335.5(SCN5A):c.5218G>T (p.Asp1740Tyr) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:32893267 10057282 CV196845 NM_000335.5(SCN5A):c.5432C>T (p.Ser1811Leu) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10057283 CV196842 NM_000335.5(SCN5A):c.5479G>A (p.Ala1827Thr) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:31983221 10057285 CV196839 NM_000335.5(SCN5A):c.5589G>T (p.Glu1863Asp) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10057288 CV196835 NM_000335.5(SCN5A):c.5737A>G (p.Arg1913Gly) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:18056581|PMID:25741868|PMID:28492532 10057289 CV196832 NM_000335.5(SCN5A):c.5842G>A (p.Ala1948Thr) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:25741868|PMID:28492532 10057290 CV196831 NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:15840476|PMID:19862833|PMID:23936059|PMID:24388587|PMID:25741868|PMID:27532257|PMID:28370132|PMID:28492532|PMID:28600387|PMID:29396561|PMID:29961767|PMID:31447099|PMID:32533946|PMID:33087929|PMID:36129056 10057293 CV196826 NM_000335.5(SCN5A):c.6043G>A (p.Val2015Met) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:24895455|PMID:25741868|PMID:26282245|PMID:27650965|PMID:28069705|PMID:28492532|PMID:29907873|PMID:30662450|PMID:30847666|PMID:33083013|PMID:35932045 10057295 CV196926 NM_000335.5(SCN5A):c.2963G>A (p.Arg988Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23321620|PMID:24190697|PMID:25741868|PMID:28341781|PMID:28492532|PMID:31696929|PMID:32893267 10057295 CV196926 NM_000335.5(SCN5A):c.2963G>A (p.Arg988Gln) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23321620|PMID:24190697|PMID:25741868|PMID:28341781|PMID:28492532|PMID:31696929|PMID:32893267 10057315 CV196868 NM_000335.5(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10448858|PMID:14654377|PMID:18697752|PMID:20728579|PMID:23098067|PMID:24667783|PMID:25741868|PMID:26022185|PMID:26467377|PMID:28492532|PMID:7651517|PMID:7889574 10057317 CV196843 NM_000335.5(SCN5A):c.5461_5464del (p.Glu1822fs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:16686678|PMID:16798729|PMID:17897635|PMID:18361072|PMID:20129283|PMID:21167176|PMID:21566136|PMID:22705208|PMID:24582607|PMID:25741868|PMID:26392562|PMID:28492532|PMID:32268277|PMID:35052356 10057320 CV196972 NM_000335.5(SCN5A):c.1705C>G (p.Arg569Gly) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:25904541|PMID:28492532|PMID:30662450|PMID:32233023 10057321 CV196964 NM_000335.5(SCN5A):c.1880C>T (p.Pro627Leu) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormal heart rate PMID:22360817|PMID:24033266|PMID:25741868|PMID:25904541|PMID:27566755|PMID:28323875|PMID:28492532 10057322 CV196959 NM_000335.5(SCN5A):c.1951G>C (p.Asp651His) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10057323 CV196958 NM_000335.5(SCN5A):c.1993G>A (p.Ala665Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23631430|PMID:25741868|PMID:28492532|PMID:29907895|PMID:30847666|PMID:31696929|PMID:31983221 10057323 CV196958 NM_000335.5(SCN5A):c.1993G>A (p.Ala665Thr) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23631430|PMID:25741868|PMID:28492532|PMID:29907895|PMID:30847666|PMID:31696929|PMID:31983221 10057327 CV196919 NM_000335.5(SCN5A):c.3121G>A (p.Asp1041Asn) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25650408|PMID:25741868|PMID:28492532|PMID:32893267 10057328 CV196912 NM_000335.5(SCN5A):c.3436A>G (p.Thr1146Ala) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10057330 CV196900 NM_000335.5(SCN5A):c.3706G>A (p.Val1236Ile) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868 10057332 CV196880 NM_000335.5(SCN5A):c.4296+6T>C variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10057333 CV196888 NM_000335.5(SCN5A):c.4168G>A (p.Gly1390Arg) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:30244407|PMID:31737537|PMID:32431610 10057338 CV196844 NM_000335.5(SCN5A):c.5455G>A (p.Ala1819Thr) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:11562792|PMID:25741868 10057339 CV196838 NM_000335.5(SCN5A):c.5605G>A (p.Ala1869Thr) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23631430|PMID:25741868|PMID:28492532|PMID:32048431 10057340 CV196833 NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:16686678|PMID:16798729|PMID:24631775|PMID:25741868|PMID:27287068|PMID:28370132|PMID:28492532|PMID:29247119|PMID:30059973|PMID:31130284|PMID:33221895|PMID:36007526|PMID:36129056 10057348 CV196494 NM_003000.3(SDHB):c.210dup (p.Met71fs) variant HP:0002666 Pheochromocytoma IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Chromaffin tumors PMID:11897817|PMID:19454582|PMID:19802898|PMID:28492532 10057348 CV196494 NM_003000.3(SDHB):c.210dup (p.Met71fs) variant HP:0100723 Gastrointestinal stroma tumor IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumors PMID:11897817|PMID:19454582|PMID:19802898|PMID:28492532 10057350 CV196491 NM_003000.3(SDHB):c.481del (p.Asp161fs) variant HP:0002666 Pheochromocytoma IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:19454582|PMID:19802898|PMID:25394176|PMID:28492532|PMID:31194233 10057350 CV196491 NM_003000.3(SDHB):c.481del (p.Asp161fs) variant HP:0100723 Gastrointestinal stroma tumor IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gastrointestinal stroma tumor PMID:19454582|PMID:19802898|PMID:25394176|PMID:28492532|PMID:31194233 10057351 CV196489 NM_003000.3(SDHB):c.718_721del (p.Leu240fs) variant HP:0002666 Pheochromocytoma IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Chromaffin tumors PMID:16314641|PMID:16317055|PMID:19454582|PMID:28492532|PMID:30549360|PMID:30877234 10057351 CV196489 NM_003000.3(SDHB):c.718_721del (p.Leu240fs) variant HP:0100723 Gastrointestinal stroma tumor IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumors PMID:16314641|PMID:16317055|PMID:19454582|PMID:28492532|PMID:30549360|PMID:30877234 10057353 CV196493 NM_003000.3(SDHB):c.269G>A (p.Arg90Gln) variant HP:0002666 Pheochromocytoma IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:17102082|PMID:19351833|PMID:20208144|PMID:21520333|PMID:23175444|PMID:25741868|PMID:26102504|PMID:26269449|PMID:28492532|PMID:31216007|PMID:33558524|PMID:34906457 10057353 CV196493 NM_003000.3(SDHB):c.269G>A (p.Arg90Gln) variant HP:0100723 Gastrointestinal stroma tumor IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gastrointestinal stroma tumor PMID:17102082|PMID:19351833|PMID:20208144|PMID:21520333|PMID:23175444|PMID:25741868|PMID:26102504|PMID:26269449|PMID:28492532|PMID:31216007|PMID:33558524|PMID:34906457 10057382 CV198127 NM_001927.4(DES):c.976C>T (p.His326Tyr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057383 CV198128 NM_001927.4(DES):c.1027G>A (p.Asp343Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057384 CV198130 NM_001927.4(DES):c.1123C>T (p.Arg375Trp) variant HP:0001644 Dilated cardiomyopathy IAGP H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy PMID:25741868|PMID:28074886|PMID:28492532|PMID:30847666 10057404 CV198568 NM_004006.3(DMD):c.7472A>G (p.Gln2491Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:26467025|PMID:28492532 10057405 CV198594 NM_004006.3(DMD):c.1028G>A (p.Arg343His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:12467752|PMID:25741868|PMID:26467025|PMID:28492532 10057406 CV198593 NM_004006.3(DMD):c.1666G>A (p.Asp556Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532|PMID:29604111 10057407 CV198591 NM_004006.3(DMD):c.1888A>G (p.Thr630Ala) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10057408 CV198586 NM_004006.3(DMD):c.2824A>G (p.Met942Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057413 CV198572 NM_004006.3(DMD):c.5933G>T (p.Arg1978Leu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10057414 CV198570 NM_004006.3(DMD):c.6101A>T (p.Gln2034Leu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10057415 CV198569 NM_004006.3(DMD):c.6179C>T (p.Thr2060Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10057417 CV198566 NM_004006.3(DMD):c.8308G>A (p.Asp2770Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10057417 CV198566 NM_004006.3(DMD):c.8308G>A (p.Asp2770Asn) variant HP:0002269 Abnormality of neuronal migration IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Abnormality of neuronal migration PMID:28492532 10057418 CV198564 NM_004006.3(DMD):c.8974G>A (p.Val2992Met) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10057419 CV198563 NM_004006.3(DMD):c.9299A>G (p.Asn3100Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 10057422 CV198587 NM_004006.3(DMD):c.2734G>A (p.Val912Met) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057424 CV198583 NM_004006.3(DMD):c.3191T>C (p.Met1064Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10057425 CV198580 NM_004006.3(DMD):c.3937A>G (p.Met1313Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10057426 CV198577 NM_004006.3(DMD):c.5203C>T (p.Arg1735Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:15655674|PMID:25741868|PMID:28492532 10057429 CV198574 NM_004006.3(DMD):c.5785G>C (p.Val1929Leu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10057435 CV198589 NM_004006.3(DMD):c.2273A>C (p.Asp758Ala) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 10057441 CV198313 NM_007078.3(LDB3):c.398C>T (p.Pro133Leu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057445 CV198318 NM_007078.3(LDB3):c.794G>A (p.Arg265His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:33552729 10057454 CV198330 NM_007078.3(LDB3):c.1594G>C (p.Ala532Pro) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23396983|PMID:24033266|PMID:25741868|PMID:28492532 10057458 CV198307 NM_007078.3(LDB3):c.54G>T (p.Gln18His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:27005929|PMID:28492532 10057459 CV198308 NM_007078.3(LDB3):c.91C>T (p.Arg31Trp) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:29255176|PMID:35581137 10057463 CV198387 NM_001005242.3(PKP2):c.2392G>A (p.Val798Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24558114|PMID:25741868|PMID:28492532|PMID:30260051|PMID:30279520 10057464 CV198443 NM_001005242.3(PKP2):c.611G>A (p.Arg204His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:27697855|PMID:27930701|PMID:28492532 10057465 CV198437 NM_001005242.3(PKP2):c.928G>A (p.Val310Met) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057466 CV198432 NM_001005242.3(PKP2):c.1095G>A (p.Met365Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25351510|PMID:25741868|PMID:28492532 10057467 CV198389 NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:16567567|PMID:20603720|PMID:21606396|PMID:21636032|PMID:22781308|PMID:23085127|PMID:23863954|PMID:23871674|PMID:25741868|PMID:25820315|PMID:28492532|PMID:31737537|PMID:34469894 10057470 CV198385 NM_001005242.3(PKP2):c.2405C>A (p.Ser802Tyr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057476 CV198445 NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:24352520|PMID:25395996|PMID:25650408|PMID:25741868|PMID:25998140|PMID:27085656|PMID:28471438|PMID:28492532|PMID:29192238|PMID:30662450|PMID:32443836|PMID:34426522|PMID:35712781 10057477 CV198444 NM_001005242.3(PKP2):c.586C>T (p.Arg196Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28255936|PMID:28492532 10057478 CV198441 NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:21606390|PMID:23889974|PMID:23911551|PMID:24070718|PMID:24704780|PMID:25326635|PMID:25741868|PMID:25820315|PMID:26138720|PMID:26314686|PMID:27532257|PMID:28492532|PMID:28588093|PMID:29038103|PMID:29247119|PMID:29759408|PMID:34120153 10057480 CV198436 NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25351510|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30847666 10057480 CV198436 NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys) variant HP:0001663 Ventricular fibrillation IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:25351510|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30847666 10057480 CV198436 NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys) variant HP:0030843 Cardiac amyloidosis IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:25351510|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30847666 10057481 CV198430 NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:17010805|PMID:19880068|PMID:20152563|PMID:23183494|PMID:24967631|PMID:25741868|PMID:28472724|PMID:28492532|PMID:31319917|PMID:32268277|PMID:34135346 10057483 CV198429 NM_001005242.3(PKP2):c.1170+5G>A variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10057487 CV198421 NM_001005242.3(PKP2):c.1415A>G (p.Lys472Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057488 CV198420 NM_001005242.3(PKP2):c.1426A>G (p.Ile476Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:31983221 10057489 CV198418 NM_001005242.3(PKP2):c.1451C>T (p.Thr484Met) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:31983221 10057490 CV198415 NM_001005242.3(PKP2):c.1537A>G (p.Asn513Asp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:31737537|PMID:35026164|PMID:36720007|PMID:38254962 10057493 CV198459 NM_001005242.3(PKP2):c.14G>A (p.Gly5Asp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25447171|PMID:25650408|PMID:25741868|PMID:28492532|PMID:30847666 10057494 CV198458 NM_001005242.3(PKP2):c.19C>T (p.Pro7Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28045975|PMID:28492532|PMID:33029862 10057497 CV198408 NM_001005242.3(PKP2):c.1696A>G (p.Ile566Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10057499 CV198405 NM_001005242.3(PKP2):c.1717C>T (p.Gln573Ter) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24920660|PMID:25741868|PMID:25820315|PMID:26850880|PMID:28588093|PMID:32294163|PMID:34550725 10057500 CV198401 NM_001005242.3(PKP2):c.1819C>T (p.Arg607Ter) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:18382419|PMID:20400443|PMID:22019812|PMID:23465095|PMID:23871674|PMID:23911551|PMID:24125834|PMID:25741868|PMID:28431057|PMID:28492532|PMID:29178656|PMID:30790397|PMID:30847666|PMID:31386562|PMID:31402444 10057501 CV198403 NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:27930701|PMID:28166282|PMID:28492532|PMID:31983221|PMID:33500567 10057504 CV198398 NM_001005242.3(PKP2):c.1952G>A (p.Arg651His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:30763825 10057505 CV198457 NM_001005242.3(PKP2):c.202G>A (p.Gly68Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10057507 CV198395 NM_001005242.3(PKP2):c.2167+1G>A variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:16199547|PMID:23911551|PMID:25741868|PMID:26743238|PMID:28492532|PMID:31638835|PMID:36138163 10057524 CV198400 NM_001005242.3(PKP2):c.1881del (p.Lys628fs) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:16549640|PMID:17010805|PMID:20031617|PMID:20857253|PMID:21723241|PMID:23354045|PMID:23911551|PMID:24070718|PMID:24576884|PMID:24585727|PMID:24768880|PMID:24967631|PMID:25741868|PMID:25971409|PMID:26590176|PMID:28097316|PMID:28492532|PMID:29221435|PMID:31386562|PMID:31402444|PMID:33087929|PMID:34550725 10057524 CV198400 NM_001005242.3(PKP2):c.1881del (p.Lys628fs) variant HP:0011675 Arrhythmia IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:15489853|PMID:16549640|PMID:17010805|PMID:20031617|PMID:20857253|PMID:21723241|PMID:23354045|PMID:23911551|PMID:24070718|PMID:24576884|PMID:24585727|PMID:24768880|PMID:24967631|PMID:25741868|PMID:25971409|PMID:26590176|PMID:28097316|PMID:28492532|PMID:29221435|PMID:31386562|PMID:31402444|PMID:33087929|PMID:34550725 10057527 CV198383 NM_001005242.3(PKP2):c.2480G>A (p.Arg827Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:30847666 10057531 CV198434 NM_001005242.3(PKP2):c.976G>A (p.Ala326Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23514727|PMID:25741868|PMID:28431057|PMID:28492532|PMID:31319917 10057532 CV198427 NM_001005242.3(PKP2):c.1171-2A>G variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:16199547|PMID:16549640|PMID:20031617|PMID:20857253|PMID:23671136|PMID:23911551|PMID:24125834|PMID:25196244|PMID:25741868|PMID:25820315|PMID:28492532|PMID:28588093|PMID:30847666 10057533 CV198413 NM_001005242.3(PKP2):c.1612C>T (p.Leu538Phe) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057537 CV198417 NM_001005242.3(PKP2):c.1511del (p.Gly504fs) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:17010805|PMID:19358943|PMID:20031617|PMID:20152563|PMID:20400443|PMID:23183494|PMID:23810883|PMID:23810894|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24704780|PMID:24967631|PMID:25741868|PMID:26467025|PMID:26850880|PMID:28492532|PMID:28588093|PMID:29606362|PMID:29940860|PMID:30161220|PMID:30790397|PMID:31702781|PMID:32102357|PMID:33652588|PMID:34134068|PMID:35712781|PMID:36008935 10057538 CV198172 NM_000337.6(SGCD):c.15G>C (p.Glu5Asp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057558 CV198478 NM_003673.4(TCAP):c.353C>T (p.Ala118Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24037902|PMID:25741868|PMID:26467025|PMID:28492532 10057561 CV198471 NM_003673.4(TCAP):c.113G>T (p.Cys38Phe) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:32451364|PMID:34540776 10057562 CV198157 NM_024334.3(TMEM43):c.896G>C (p.Arg299Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:21391237|PMID:23555315|PMID:23812740|PMID:25741868|PMID:26840987|PMID:28492532 10057567 CV198160 NM_024334.3(TMEM43):c.1141G>A (p.Gly381Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057568 CV198140 NM_024334.3(TMEM43):c.98C>T (p.Ser33Leu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057569 CV198151 NM_024334.3(TMEM43):c.601G>A (p.Asp201Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057570 CV198152 NM_024334.3(TMEM43):c.659G>A (p.Arg220His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:32880476 10057571 CV198153 NM_024334.3(TMEM43):c.661C>T (p.Arg221Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057572 CV198154 NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:21636032|PMID:23178689|PMID:23299917|PMID:24033266|PMID:25741868|PMID:25820315|PMID:28492532|PMID:30847666 10057573 CV198155 NM_024334.3(TMEM43):c.751G>A (p.Asp251Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057574 CV198156 NM_024334.3(TMEM43):c.859C>T (p.His287Tyr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:29247119|PMID:31604776 10057577 CV198141 NM_024334.3(TMEM43):c.214G>A (p.Val72Met) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:27532257|PMID:28492532 10057579 CV198142 NM_024334.3(TMEM43):c.244C>G (p.Pro82Ala) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057580 CV198143 NM_024334.3(TMEM43):c.286C>G (p.Arg96Gly) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057581 CV198145 NM_024334.3(TMEM43):c.337G>A (p.Val113Met) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057582 CV198146 NM_024334.3(TMEM43):c.344T>C (p.Leu115Pro) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057586 CV198149 NM_024334.3(TMEM43):c.424G>C (p.Glu142Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057608 CV199270 NM_001267550.2(TTN):c.50390G>A (p.Arg16797His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057609 CV199269 NM_001267550.2(TTN):c.50400A>T (p.Lys16800Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057618 CV199144 NM_001267550.2(TTN):c.62891C>A (p.Pro20964His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10057639 CV198781 NM_001267550.2(TTN):c.97612C>T (p.Arg32538Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10057644 CV199701 NM_001267550.2(TTN):c.7628C>G (p.Thr2543Ser) variant HP:0001645 Sudden cardiac death IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest PMID:25741868|PMID:28492532 10057644 CV199701 NM_001267550.2(TTN):c.7628C>G (p.Thr2543Ser) variant HP:0031628 Aborted sudden cardiac death IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest PMID:25741868|PMID:28492532 10057651 CV199571 NM_001267550.2(TTN):c.16790C>T (p.Ser5597Phe) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10057656 CV199459 NM_001267550.2(TTN):c.29042-2A>C variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23396983|PMID:24033266|PMID:25589632|PMID:25741868|PMID:26777568|PMID:28492532|PMID:30535219 10057657 CV199454 NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter) variant HP:0003198 Myopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy PMID:22335739|PMID:23975875|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26701604|PMID:28492532 10057668 CV199344 NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:22335739|PMID:23975875|PMID:24033266|PMID:24503780|PMID:25589632|PMID:25741868|PMID:27532257|PMID:27869827|PMID:28492532|PMID:30333491|PMID:31737537|PMID:32964742|PMID:33106378|PMID:33500567|PMID:33874732 10057669 CV199342 NM_001267550.2(TTN):c.44816-1G>A variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23975875|PMID:25589632|PMID:25741868|PMID:27869827|PMID:28492532|PMID:32964742 10057672 CV199304 NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter) variant HP:0001644 Dilated cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE PMID:21520333|PMID:23418287|PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 10057678 CV199277 NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23975875|PMID:25163546|PMID:25589632|PMID:25741868|PMID:28492532|PMID:30847666 10057692 CV199203 NM_001267550.2(TTN):c.55432+5G>C variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17576681|PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532|PMID:28822653|PMID:9536098 10057698 CV199156 NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 10057716 CV198944 NM_001267550.2(TTN):c.82240C>T (p.Arg27414Ter) variant HP:0001709 Third degree atrioventricular block IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Third degree atrioventricular block PMID:23975875|PMID:25589632|PMID:28492532|PMID:31251381|PMID:31983221|PMID:34135346 10057725 CV198841 NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23975875|PMID:25589632|PMID:25741868|PMID:27930701|PMID:28492532|PMID:30535219|PMID:33874732 10057734 CV199768 NM_001267550.2(TTN):c.658C>T (p.Arg220Ter) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25589632|PMID:25741868|PMID:27493940|PMID:28492532|PMID:32778822 10057760 CV199090 NM_001267550.2(TTN):c.67421del (p.Lys22474fs) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532|PMID:31983221 10057767 CV199039 NM_001267550.2(TTN):c.72848_72849del (p.Lys24283fs) variant HP:0001644 Dilated cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE PMID:25741868 10057783 CV198910 NM_001267550.2(TTN):c.86387_86391del (p.Arg28796fs) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 10057794 CV198826 NM_001267550.2(TTN):c.94103_94107del (p.Ile31368fs) variant HP:0001634 Mitral valve prolapse IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mitral valve prolapse PMID:22335739|PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532|PMID:35653365|PMID:36264615 10057808 CV199661 NM_001267550.2(TTN):c.11183dup (p.Leu3729fs) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25589632|PMID:25741868|PMID:31112426|PMID:31691645|PMID:34495297 10057819 CV199141 NM_001267550.2(TTN):c.63025C>T (p.Arg21009Ter) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23975875|PMID:25589632|PMID:25741868|PMID:28045975|PMID:28492532 10057830 CV198685 NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) variant HP:0002515 Waddling gait IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Waddling gait PMID:18948003|PMID:23975875|PMID:24395473|PMID:25589632|PMID:25741868|PMID:27796757|PMID:28295036|PMID:28492532|PMID:29435569 10057830 CV198685 NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) variant HP:0003198 Myopathy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy PMID:18948003|PMID:23975875|PMID:24395473|PMID:25589632|PMID:25741868|PMID:27796757|PMID:28295036|PMID:28492532|PMID:29435569 10057830 CV198685 NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) variant HP:0003325 Limb-girdle muscle weakness IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Limb-girdle muscle weakness PMID:18948003|PMID:23975875|PMID:24395473|PMID:25589632|PMID:25741868|PMID:27796757|PMID:28295036|PMID:28492532|PMID:29435569 10057830 CV198685 NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) variant HP:0003797 Limb-girdle muscle atrophy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Limb-girdle muscle atrophy PMID:18948003|PMID:23975875|PMID:24395473|PMID:25589632|PMID:25741868|PMID:27796757|PMID:28295036|PMID:28492532|PMID:29435569 10057830 CV198685 NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) variant HP:0003805 Rimmed vacuoles IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rimmed vacuoles PMID:18948003|PMID:23975875|PMID:24395473|PMID:25589632|PMID:25741868|PMID:27796757|PMID:28295036|PMID:28492532|PMID:29435569 10057830 CV198685 NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) variant HP:0006785 Limb-girdle muscular dystrophy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:18948003|PMID:23975875|PMID:24395473|PMID:25589632|PMID:25741868|PMID:27796757|PMID:28295036|PMID:28492532|PMID:29435569 10057830 CV198685 NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) variant HP:0007340 Lower limb muscle weakness IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lower limb muscle weakness PMID:18948003|PMID:23975875|PMID:24395473|PMID:25589632|PMID:25741868|PMID:27796757|PMID:28295036|PMID:28492532|PMID:29435569 10057830 CV198685 NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) variant HP:0008956 Proximal lower limb amyotrophy IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proximal lower limb amyotrophy PMID:18948003|PMID:23975875|PMID:24395473|PMID:25589632|PMID:25741868|PMID:27796757|PMID:28295036|PMID:28492532|PMID:29435569 10057830 CV198685 NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) variant HP:0011808 Decreased patellar reflex IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Decreased patellar reflex PMID:18948003|PMID:23975875|PMID:24395473|PMID:25589632|PMID:25741868|PMID:27796757|PMID:28295036|PMID:28492532|PMID:29435569 10057852 CV199453 NM_001267550.2(TTN):c.29314G>A (p.Val9772Met) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10057853 CV199452 NM_001267550.2(TTN):c.29762T>C (p.Ile9921Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057854 CV199451 NM_001267550.2(TTN):c.30166G>T (p.Gly10056Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10057856 CV199449 NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) variant HP:0000496 Abnormality of eye movement IAGP H RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormality of eye movement PMID:24459294|PMID:25741868|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 10057856 CV199449 NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) variant HP:0000750 Delayed speech and language development IAGP H RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Delayed speech and language development PMID:24459294|PMID:25741868|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 10057856 CV199449 NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) variant HP:0001252 Hypotonia IAGP H RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:24459294|PMID:25741868|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 10057856 CV199449 NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) variant HP:0001290 Generalized hypotonia IAGP H RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:24459294|PMID:25741868|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 10057856 CV199449 NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24459294|PMID:25741868|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 10057856 CV199449 NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) variant HP:0002167 Abnormal speech pattern IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Abnormality of speech or vocalization PMID:24459294|PMID:25741868|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 10057856 CV199449 NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) variant HP:0002194 Delayed gross motor development IAGP H RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Delayed gross motor development PMID:24459294|PMID:25741868|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 10057863 CV199439 NM_001267550.2(TTN):c.31441A>G (p.Thr10481Ala) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10057869 CV199432 NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10057871 CV199430 NM_001267550.2(TTN):c.32093G>A (p.Arg10698Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10057901 CV199393 NM_001267550.2(TTN):c.39115A>C (p.Thr13039Pro) variant HP:0030051 Tip-toe gait IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Tip-toe gait PMID:25741868|PMID:28492532|PMID:37091313 10057913 CV199381 NM_001267550.2(TTN):c.40757C>T (p.Ala13586Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10057921 CV199373 NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 10057926 CV199365 NM_001267550.2(TTN):c.42434T>C (p.Met14145Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10057951 CV199322 NM_001267550.2(TTN):c.46363G>A (p.Asp15455Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057965 CV199302 NM_001267550.2(TTN):c.48394C>T (p.Arg16132Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:30021846|PMID:30959811 10057968 CV199299 NM_001267550.2(TTN):c.48509A>G (p.Asn16170Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10057979 CV199283 NM_001267550.2(TTN):c.49814T>G (p.Val16605Gly) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868 10057984 CV199272 NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 10057988 CV199263 NM_001267550.2(TTN):c.50797G>A (p.Ala16933Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10057996 CV199251 NM_001267550.2(TTN):c.51704G>A (p.Arg17235Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:32041989 10058003 CV199237 NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:28750076|PMID:33552729 10058016 CV199216 NM_001267550.2(TTN):c.54518C>A (p.Pro18173Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10058019 CV199212 NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10058031 CV199192 NM_001267550.2(TTN):c.57646A>G (p.Ile19216Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26516846|PMID:28492532 10058032 CV199191 NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 10058038 CV199182 NM_001267550.2(TTN):c.58601G>A (p.Ser19534Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10058048 CV199167 NM_001267550.2(TTN):c.60140G>A (p.Arg20047Lys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10058050 CV199165 NM_001267550.2(TTN):c.60197C>T (p.Pro20066Leu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30086531 10058057 CV199157 NM_001267550.2(TTN):c.61484G>A (p.Arg20495His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 10058062 CV199149 NM_001267550.2(TTN):c.62425G>A (p.Ala20809Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10058064 CV199147 NM_001267550.2(TTN):c.62507G>A (p.Arg20836Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10058067 CV199143 NM_001267550.2(TTN):c.62995T>G (p.Phe20999Val) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868 10058070 CV199139 NM_001267550.2(TTN):c.63109C>T (p.Arg21037Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10058077 CV199133 NM_001267550.2(TTN):c.63577C>T (p.Arg21193Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:28771489|PMID:30847666 10058078 CV199132 NM_001267550.2(TTN):c.63581T>C (p.Leu21194Pro) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10058080 CV199127 NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:17576681|PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532|PMID:31561939|PMID:31983221|PMID:32235935|PMID:9536098 10058081 CV199126 NM_001267550.2(TTN):c.64195G>A (p.Asp21399Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10058084 CV199753 NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26467025|PMID:27321809|PMID:28492532|PMID:30847666 10058085 CV199122 NM_001267550.2(TTN):c.64454G>A (p.Arg21485Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10058097 CV199108 NM_001267550.2(TTN):c.65776G>A (p.Val21926Met) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10058098 CV199107 NM_001267550.2(TTN):c.65782C>T (p.Arg21928Trp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10058099 CV199106 NM_001267550.2(TTN):c.65794G>A (p.Gly21932Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10058101 CV199104 NM_001267550.2(TTN):c.66568G>C (p.Gly22190Arg) variant HP:0001645 Sudden cardiac death IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest PMID:25741868|PMID:28492532 10058101 CV199104 NM_001267550.2(TTN):c.66568G>C (p.Gly22190Arg) variant HP:0031628 Aborted sudden cardiac death IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest PMID:25741868|PMID:28492532 10058109 CV199093 NM_001267550.2(TTN):c.67282G>T (p.Val22428Leu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10058136 CV199054 NM_001267550.2(TTN):c.71789A>T (p.Lys23930Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10058149 CV199035 NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10058159 CV199022 NM_001267550.2(TTN):c.74965G>A (p.Val24989Met) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10058165 CV199012 NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26467025|PMID:26901136 10058166 CV199011 NM_001267550.2(TTN):c.76019T>A (p.Val25340Asp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 10058175 CV199000 NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10058175 CV199000 NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10058175 CV199000 NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) variant HP:0001645 Sudden cardiac death IAGP H RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10058175 CV199000 NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) variant HP:0031628 Aborted sudden cardiac death IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10058176 CV198999 NM_001267550.2(TTN):c.76952T>C (p.Val25651Ala) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 10058194 CV198969 NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10058194 CV198969 NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10058197 CV198965 NM_001267550.2(TTN):c.79909G>A (p.Val26637Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10058206 CV198952 NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val) variant HP:0001712 Left ventricular hypertrophy IAGP H RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:25741868|PMID:26467025|PMID:28492532|PMID:31983221 10058212 CV198943 NM_001267550.2(TTN):c.82385C>T (p.Thr27462Met) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:31983221 10058215 CV198937 NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr) variant HP:0030051 Tip-toe gait IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Tip-toe gait PMID:24033266|PMID:25741868|PMID:28492532|PMID:37091313 10058224 CV198924 NM_001267550.2(TTN):c.84385G>T (p.Val28129Phe) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10058272 CV198858 NM_001267550.2(TTN):c.90913T>C (p.Tyr30305His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10058280 CV198851 NM_001267550.2(TTN):c.91366G>A (p.Gly30456Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10058282 CV198849 NM_001267550.2(TTN):c.91399C>T (p.Arg30467Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 10058291 CV198838 NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10058291 CV198838 NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10058315 CV198810 NM_001267550.2(TTN):c.95521A>G (p.Asn31841Asp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868 10058327 CV198791 NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10058329 CV198788 NM_001267550.2(TTN):c.97442G>A (p.Gly32481Glu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10058340 CV198773 NM_001267550.2(TTN):c.98591T>C (p.Val32864Ala) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10058356 CV198754 NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) variant HP:0000496 Abnormality of eye movement IAGP H RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormality of eye movement PMID:24459294|PMID:25741868|PMID:26272908|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 10058356 CV198754 NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) variant HP:0000750 Delayed speech and language development IAGP H RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Delayed speech and language development PMID:24459294|PMID:25741868|PMID:26272908|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 10058356 CV198754 NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) variant HP:0001252 Hypotonia IAGP H RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:24459294|PMID:25741868|PMID:26272908|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 10058356 CV198754 NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) variant HP:0001290 Generalized hypotonia IAGP H RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:24459294|PMID:25741868|PMID:26272908|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 10058356 CV198754 NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24459294|PMID:25741868|PMID:26272908|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 10058356 CV198754 NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) variant HP:0002167 Abnormal speech pattern IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Abnormality of speech or vocalization PMID:24459294|PMID:25741868|PMID:26272908|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 10058356 CV198754 NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) variant HP:0002194 Delayed gross motor development IAGP H RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Delayed gross motor development PMID:24459294|PMID:25741868|PMID:26272908|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 10058357 CV198753 NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) variant HP:0000496 Abnormality of eye movement IAGP H RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormality of eye movement PMID:25741868|PMID:26272908|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 10058357 CV198753 NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) variant HP:0000750 Delayed speech and language development IAGP H RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Delayed speech and language development PMID:25741868|PMID:26272908|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 10058357 CV198753 NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) variant HP:0001252 Hypotonia IAGP H RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:25741868|PMID:26272908|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 10058357 CV198753 NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) variant HP:0001290 Generalized hypotonia IAGP H RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:26272908|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 10058357 CV198753 NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26272908|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 10058357 CV198753 NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) variant HP:0002167 Abnormal speech pattern IAGP H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Abnormality of speech or vocalization PMID:25741868|PMID:26272908|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 10058357 CV198753 NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) variant HP:0002194 Delayed gross motor development IAGP H RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Delayed gross motor development PMID:25741868|PMID:26272908|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 10058363 CV198746 NM_001267550.2(TTN):c.101213G>A (p.Arg33738His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10058374 CV198730 NM_001267550.2(TTN):c.103679A>G (p.Lys34560Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10058378 CV198726 NM_001267550.2(TTN):c.104168G>T (p.Arg34723Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10058383 CV198721 NM_001267550.2(TTN):c.104519G>A (p.Arg34840Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:27662471|PMID:28492532|PMID:28831623 10058398 CV198705 NM_001267550.2(TTN):c.105482C>A (p.Thr35161Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10058403 CV198699 NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23975875|PMID:25589632|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31983221 10058413 CV198692 NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:29988065|PMID:33552729 10058416 CV198688 NM_001267550.2(TTN):c.107339G>A (p.Arg35780His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10058428 CV199730 NM_001267550.2(TTN):c.4262G>A (p.Arg1421Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868 10058430 CV199728 NM_001267550.2(TTN):c.4289C>A (p.Ala1430Glu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10058434 CV199723 NM_001267550.2(TTN):c.4990C>T (p.Arg1664Trp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10058437 CV199720 NM_001267550.2(TTN):c.5577G>T (p.Arg1859Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25447171|PMID:25741868|PMID:28492532 10058439 CV199718 NM_001267550.2(TTN):c.5698G>A (p.Val1900Met) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868 10058442 CV199715 NM_001267550.2(TTN):c.5875T>A (p.Phe1959Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 10058447 CV199710 NM_001267550.2(TTN):c.6462C>G (p.Ile2154Met) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10058454 CV199700 NM_001267550.2(TTN):c.7682T>C (p.Ile2561Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10058473 CV199673 NM_001267550.2(TTN):c.9851A>G (p.Lys3284Arg) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:31983221 10058475 CV199671 NM_001267550.2(TTN):c.10049C>T (p.Pro3350Leu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10058476 CV199670 NM_001267550.2(TTN):c.10067C>T (p.Thr3356Ile) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10058522 CV199613 NM_001267550.2(TTN):c.11567A>G (p.Asn3856Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10058532 CV199598 NM_001267550.2(TTN):c.13883C>T (p.Ser4628Phe) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10058540 CV199588 NM_001267550.2(TTN):c.14662C>G (p.Pro4888Ala) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10058543 CV199585 NM_001267550.2(TTN):c.14911T>G (p.Cys4971Gly) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10058547 CV199774 NM_001267550.2(TTN):c.415C>T (p.Arg139Trp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10058550 CV199580 NM_001267550.2(TTN):c.15986G>A (p.Gly5329Asp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25163546|PMID:25741868|PMID:28492532 10058551 CV199579 NM_001267550.2(TTN):c.16010A>G (p.Asn5337Ser) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10058565 CV199563 NM_001267550.2(TTN):c.17871A>T (p.Gln5957His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10058567 CV199561 NM_001267550.2(TTN):c.18037T>C (p.Tyr6013His) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 10058569 CV199559 NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10058571 CV199557 NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10058572 CV199556 NM_001267550.2(TTN):c.18407G>A (p.Arg6136Gln) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10058573 CV199555 NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr) variant HP:0001657 Prolonged QT interval IAGP H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26516846|PMID:27930701|PMID:28135719|PMID:28492532|PMID:31785789 10058582 CV199545 NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10058594 CV199533 NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg) variant HP:0030051 Tip-toe gait IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Tip-toe gait PMID:25741868|PMID:26467025|PMID:28492532|PMID:37091313 10058601 CV199526 NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:10462489|PMID:11717165|PMID:12145747|PMID:12669942|PMID:17444505|PMID:1745277|PMID:18948003|PMID:21617319|PMID:21810661|PMID:22335739|PMID:23418287|PMID:23518707|PMID:24033266|PMID:24105469|PMID:24395473|PMID:25741868|PMID:28492532 10058603 CV199524 NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10058603 CV199524 NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) variant HP:0001639 Hypertrophic cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10058614 CV199513 NM_001267550.2(TTN):c.22420G>A (p.Ala7474Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10058619 CV199508 NM_001267550.2(TTN):c.22922C>T (p.Ser7641Leu) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26467025 10058632 CV199492 NM_001267550.2(TTN):c.24769C>G (p.Leu8257Val) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:37091313 10058632 CV199492 NM_001267550.2(TTN):c.24769C>G (p.Leu8257Val) variant HP:0030051 Tip-toe gait IAGP H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Tip-toe gait PMID:25741868|PMID:28492532|PMID:37091313 10058647 CV199476 NM_001267550.2(TTN):c.26464G>A (p.Ala8822Thr) variant HP:0001638 Cardiomyopathy IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10058684 CV199977 NM_000016.6(ACADM):c.797A>G (p.Asp266Gly) variant HP:0011097 Epileptic spasm IAGP H RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epileptic spasms PMID:15832312|PMID:16763904|PMID:18450854|PMID:18836889|PMID:19224950|PMID:19780764|PMID:20434380|PMID:22542437|PMID:23798014|PMID:24718418|PMID:25087612|PMID:25741868|PMID:26467025|PMID:27477829|PMID:28492532|PMID:31836396|PMID:33580884 10058699 CV200245 NM_000017.4(ACADS):c.1108A>G (p.Met370Val) variant HP:0005978 Type II diabetes mellitus IAGP H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:18523805|PMID:25741868|PMID:28492532 10058717 CV200340 NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) variant HP:0003198 Myopathy IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Myopathy PMID:14517516|PMID:19327992|PMID:21429517|PMID:23798014|PMID:25214167|PMID:25741868|PMID:26385305|PMID:28492532|PMID:30194637|PMID:30904546|PMID:31589614|PMID:32710939|PMID:34106991 10058717 CV200340 NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) variant HP:0003201 Rhabdomyolysis IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:14517516|PMID:19327992|PMID:21429517|PMID:23798014|PMID:25214167|PMID:25741868|PMID:26385305|PMID:28492532|PMID:30194637|PMID:30904546|PMID:31589614|PMID:32710939|PMID:34106991 10058735 CV200150 NM_000048.4(ASL):c.507G>C (p.Trp169Cys) variant HP:0025630 Argininosuccinic aciduria IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Argininosuccinic Aciduria PMID:25741868|PMID:28492532|PMID:31943503 10058736 CV200152 NM_000048.4(ASL):c.545G>A (p.Arg182Gln) variant HP:0025630 Argininosuccinic aciduria IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Argininosuccinic Aciduria PMID:12384776|PMID:19703900|PMID:21744316|PMID:24166829|PMID:25741868|PMID:28492532 10058737 CV200154 NM_000048.4(ASL):c.649C>T (p.Arg217Ter) variant HP:0025630 Argininosuccinic aciduria IAGP H RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Argininosuccinic Aciduria PMID:2263616|PMID:24166829|PMID:25741868|PMID:28492532|PMID:30285816|PMID:31990680 10058738 CV200156 NM_000048.4(ASL):c.925G>A (p.Gly309Arg) variant HP:0025630 Argininosuccinic aciduria IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Argininosuccinic Aciduria PMID:12384776|PMID:25741868|PMID:27604308|PMID:32778825 10058739 CV200159 NM_000048.4(ASL):c.1193C>A (p.Ala398Asp) variant HP:0025630 Argininosuccinic aciduria IAGP H RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Argininosuccinic Aciduria PMID:11747433|PMID:12384776|PMID:24166829|PMID:25741868|PMID:28492532|PMID:31943503|PMID:9045711 10058741 CV200161 NM_000048.4(ASL):c.1297A>C (p.Ser433Arg) variant HP:0025630 Argininosuccinic aciduria IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Argininosuccinic Aciduria PMID:24166829|PMID:25741868|PMID:28492532|PMID:30285816 10058743 CV200146 NM_000048.4(ASL):c.291+1G>T variant HP:0025630 Argininosuccinic aciduria IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Argininosuccinic Aciduria PMID:16199547|PMID:2263616|PMID:24166829|PMID:25741868|PMID:28492532 10058744 CV200148 NM_000048.4(ASL):c.436C>T (p.Arg146Trp) variant HP:0025630 Argininosuccinic aciduria IAGP H RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Argininosuccinic Aciduria PMID:24166829|PMID:25741868|PMID:28251416|PMID:28492532|PMID:31426867|PMID:31709144|PMID:31943503 10058745 CV200149 NM_000048.4(ASL):c.437G>A (p.Arg146Gln) variant HP:0025630 Argininosuccinic aciduria IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Argininosuccinic Aciduria PMID:24166829|PMID:25741868|PMID:28251416|PMID:28492532 10058746 CV200151 NM_000048.4(ASL):c.533_557dup (p.Arg186_Leu187insGlyThrAspProArgLeuTer) variant HP:0025630 Argininosuccinic aciduria IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinic Aciduria PMID:2263616|PMID:24166829|PMID:28492532 10058747 CV200158 NM_000048.4(ASL):c.1045_1057del (p.Val349fs) variant HP:0025630 Argininosuccinic aciduria IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Argininosuccinic Aciduria PMID:12384776|PMID:16941645|PMID:1705937|PMID:21710918|PMID:24166829|PMID:25741868|PMID:28492532|PMID:31943503|PMID:9045711 10058798 CV200182 NM_000155.4(GALT):c.367C>T (p.Arg123Ter) variant HP:0004919 Galactose intolerance IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Galactose intolerance PMID:22944367|PMID:25741868|PMID:28492532|PMID:29252199|PMID:31194682 10058798 CV200182 NM_000155.4(GALT):c.367C>T (p.Arg123Ter) variant HP:0012024 Hypergalactosemia IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Galactosemia PMID:22944367|PMID:25741868|PMID:28492532|PMID:29252199|PMID:31194682 10058800 CV200000 NM_000182.5(HADHA):c.955G>A (p.Gly319Ser) variant HP:0100950 Decreased 3-hydroxyacyl-CoA dehydrogenase level IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:25741868|PMID:28492532|PMID:30682426|PMID:33638202 10058801 CV199995 NM_000182.5(HADHA):c.1916_1919dup (p.Glu641fs) variant HP:0100950 Decreased 3-hydroxyacyl-CoA dehydrogenase level IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:21103935|PMID:21549624|PMID:22459206|PMID:25741868|PMID:28492532|PMID:7738175 10058838 CV200053 NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) variant HP:0002912 Methylmalonic acidemia IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:15523652|PMID:15781192|PMID:25741868|PMID:25959030|PMID:26270765|PMID:28492532|PMID:32754920 10058839 CV200054 NM_172250.3(MMAA):c.593_596del (p.Thr198fs) variant HP:0002912 Methylmalonic acidemia IAGP H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:12438653|PMID:15523652|PMID:15781192|PMID:22614770|PMID:23026888|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28497574 10058840 CV200055 NM_172250.3(MMAA):c.988C>T (p.Arg330Ter) variant HP:0002912 Methylmalonic acidemia IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:15523652|PMID:21114891|PMID:23026888|PMID:25741868|PMID:28492532|PMID:28497574 10058841 CV200228 NM_052845.4(MMAB):c.569G>A (p.Arg190His) variant HP:0002912 Methylmalonic acidemia IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:16410054|PMID:16439175|PMID:19625202|PMID:23707710|PMID:24059531|PMID:25741868|PMID:28492532|PMID:29039164|PMID:29197662 10058842 CV200226 NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) variant HP:0002912 Methylmalonic acidemia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:16410054|PMID:21604717|PMID:22614770|PMID:24033266|PMID:25741868|PMID:28492532 10058843 CV200227 NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup) variant HP:0002912 Methylmalonic acidemia IAGP H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:16410054|PMID:22695176|PMID:25741868|PMID:28492532 10058847 CV199952 NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) variant HP:0002156 Homocystinuria IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Homocystinuria PMID:11261516|PMID:16311595|PMID:16714133|PMID:17853453|PMID:18245139|PMID:19370762|PMID:19700356|PMID:25398587|PMID:25672861|PMID:25689098|PMID:25741868|PMID:26825575|PMID:26990548|PMID:28492532|PMID:34356170 10058847 CV199952 NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) variant HP:0012120 Methylmalonic aciduria IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria PMID:11261516|PMID:16311595|PMID:16714133|PMID:17853453|PMID:18245139|PMID:19370762|PMID:19700356|PMID:25398587|PMID:25672861|PMID:25689098|PMID:25741868|PMID:26825575|PMID:26990548|PMID:28492532|PMID:34356170 10058856 CV200116 NM_000255.4(MMUT):c.982C>T (p.Leu328Phe) variant HP:0002912 Methylmalonic acidemia IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:15643616|PMID:17113806|PMID:22727635|PMID:23430940|PMID:25125334|PMID:25741868|PMID:27167370|PMID:28492532 10058857 CV200115 NM_000255.4(MMUT):c.1084-10A>G variant HP:0002912 Methylmalonic acidemia IAGP H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:23430940|PMID:25741868|PMID:27167370|PMID:27591164|PMID:28492532|PMID:30041674|PMID:31622506 10058858 CV200114 NM_000255.4(MMUT):c.1106G>A (p.Arg369His) variant HP:0002912 Methylmalonic acidemia IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:16281286|PMID:16490061|PMID:17075691|PMID:17113806|PMID:22614770|PMID:25125334|PMID:25741868|PMID:26790480|PMID:27167370|PMID:27751223|PMID:28492532|PMID:9285782|PMID:9929975 10058861 CV200111 NM_000255.4(MMUT):c.1560+1G>T variant HP:0002912 Methylmalonic acidemia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:10923046|PMID:15643616|PMID:15781192|PMID:16199547|PMID:16435223|PMID:17075691|PMID:21114891|PMID:25689098|PMID:27233228|PMID:28492532 10058863 CV200108 NM_000255.4(MMUT):c.1885A>G (p.Arg629Gly) variant HP:0002912 Methylmalonic acidemia IAGP H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:19862841|PMID:32754920|PMID:36717752 10058866 CV200124 NM_000255.4(MMUT):c.572C>A (p.Ala191Glu) variant HP:0001939 Abnormality of metabolism/homeostasis IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abnormality of metabolism/homeostasis PMID:15643616|PMID:16281286|PMID:17113806|PMID:17957493|PMID:20549364|PMID:24059531|PMID:25741868|PMID:27233228|PMID:28492532 10058866 CV200124 NM_000255.4(MMUT):c.572C>A (p.Ala191Glu) variant HP:0002912 Methylmalonic acidemia IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:15643616|PMID:16281286|PMID:17113806|PMID:17957493|PMID:20549364|PMID:24059531|PMID:25741868|PMID:27233228|PMID:28492532 10058867 CV200123 NM_000255.4(MMUT):c.682C>T (p.Arg228Ter) variant HP:0002912 Methylmalonic acidemia IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:15643616|PMID:15781192|PMID:17470278|PMID:19088183|PMID:25741868|PMID:26790480|PMID:27233228|PMID:28492532 10058868 CV200121 NM_000255.4(MMUT):c.753+2T>A variant HP:0002912 Methylmalonic acidemia IAGP H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:15781192|PMID:16199547|PMID:16281286|PMID:21048060|PMID:24033266|PMID:25741868|PMID:25959030|PMID:28492532 10058882 CV200255 NM_000282.4(PCCA):c.1397T>C (p.Met466Thr) variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 10058883 CV200256 NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg) variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:10101253|PMID:10780784|PMID:12385775|PMID:27825584|PMID:28492532 10058884 CV200253 NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:22156789|PMID:25741868|PMID:28492532|PMID:30274917|PMID:30705822 10058885 CV200034 NM_000532.5(PCCB):c.655-2A>G variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:15464417|PMID:16199547|PMID:25741868|PMID:28492532|PMID:33923806 10058886 CV200037 NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter) variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:15464417|PMID:22334403|PMID:23430860|PMID:25741868|PMID:28492532 10058887 CV200039 NM_000532.5(PCCB):c.1202C>A (p.Thr401Lys) variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 10058888 CV200033 NM_000532.5(PCCB):c.649dup (p.Val217fs) variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:15464417|PMID:28492532 10058891 CV200031 NM_000532.5(PCCB):c.563G>C (p.Gly188Ala) variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:12559849|PMID:22033733|PMID:23053474|PMID:25741868|PMID:27825584|PMID:27900673|PMID:28492532|PMID:30274917 10058892 CV200032 NM_000532.5(PCCB):c.611C>T (p.Ala204Val) variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532|PMID:28853722 10058893 CV200036 NM_000532.5(PCCB):c.890G>A (p.Arg297His) variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:25741868|PMID:28492532 10058895 CV200040 NM_000532.5(PCCB):c.1384G>A (p.Val462Ile) variant HP:0003571 Propionic acidemia IAGP H RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Propionic acidemia 10058908 CV200092 NM_003060.4(SLC22A5):c.1451G>T (p.Gly484Val) variant HP:0011003 High myopia IAGP H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Severe Myopia PMID:18673259|PMID:25741868|PMID:26633542|PMID:26828774|PMID:28074886|PMID:28492532|PMID:28841266|PMID:36343260 10058931 CV188197 NM_006017.3(PROM1):c.2077-521A>G variant HP:0000548 Cone/cone-rod dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY PMID:26153215 10058931 CV188197 NM_006017.3(PROM1):c.2077-521A>G variant HP:0000556 Retinal dystrophy IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:26153215 10058939 CV200999 CHRDL1, 2-BP DEL, 807TC variant HP:0000485 Megalocornea IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Megalocornea 10058943 CV201011 DRAM2, 1-BP DEL, 140G variant HP:0030635 Retinal dystrophy with early macular involvement IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: RETINAL DYSTROPHY WITH EARLY MACULAR INVOLVEMENT 10058945 CV201014 DRAM2, 3-BP DEL, NT64 variant HP:0030635 Retinal dystrophy with early macular involvement IAGP H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: RETINAL DYSTROPHY WITH EARLY MACULAR INVOLVEMENT 10059032 LINC01456 long intergenic non-protein coding RNA 1456 gene HP:0000717 Autism IAGP RGD:14351525 H RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10059032 LINC01456 long intergenic non-protein coding RNA 1456 gene HP:0000717 Autism IAGP RGD:14351968 H RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10059135 STT3A-AS1 STT3A antisense RNA 1 gene HP:0001249 Intellectual disability IAGP RGD:42723297 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 10059135 STT3A-AS1 STT3A antisense RNA 1 gene HP:0100753 Schizophrenia IAGP RGD:14351588 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 10059213 LINC01595 long intergenic non-protein coding RNA 1595 gene HP:0025020 Elevated prostate-specific antigen level severity IAGP H RGD:8657378|PMID:19914098 20190318 RGD DNA:SNP:intron: (rs182420) 10059485 LINC01388 long intergenic non-protein coding RNA 1388 gene HP:0100753 Schizophrenia IAGP RGD:14352406 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 10059559 LINC01022 long intergenic non-protein coding RNA 1022 gene HP:0000717 Autism IAGP RGD:14351950 H RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10071 ACP2 acid phosphatase 2, lysosomal gene HP:0001249 Intellectual disability IAGP RGD:42723466 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability 10071 ACP2 acid phosphatase 2, lysosomal gene HP:0001639 Hypertrophic cardiomyopathy IAGP RGD:13609448 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10071 ACP2 acid phosphatase 2, lysosomal gene HP:0001639 Hypertrophic cardiomyopathy IAGP RGD:151781766 H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 10071 ACP2 acid phosphatase 2, lysosomal gene HP:0001989 Fetal akinesia sequence IAGP RGD:151719920 H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia sequence PMID:17686188|PMID:28492532 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0000007 Autosomal recessive inheritance IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0000093 Proteinuria IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0000262 Turricephaly IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0000369 Low-set ears IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0000403 Recurrent otitis media IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0000460 Narrow nose IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0000684 Delayed eruption of teeth IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0000689 Dental malocclusion IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0000707 Abnormality of the nervous system IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0000768 Pectus carinatum IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0000790 Hematuria IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0000821 Hypothyroidism IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0000821 Hypothyroidism IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0000822 Hypertension IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0000824 Decreased response to growth hormone stimulation test IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0000926 Platyspondyly IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0000926 Platyspondyly IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0000946 Hypoplastic ilia IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0000979 Purpura IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0000988 Skin rash IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0001034 Hypermelanotic macule IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0001045 Vitiligo IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0001045 Vitiligo IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0001249 Intellectual disability IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0001250 Seizure IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0001256 Intellectual disability, mild IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0001257 Spasticity IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0001257 Spasticity IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0001263 Global developmental delay IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0001263 Global developmental delay IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0001264 Spastic diplegia IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0001270 Motor delay IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0001369 Arthritis IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0001370 Rheumatoid arthritis IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0001386 Joint swelling IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0001552 Barrel-shaped chest IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0001875 Neutropenia IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0001876 Pancytopenia IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0001888 Lymphopenia IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0001890 Autoimmune hemolytic anemia IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0001973 Autoimmune thrombocytopenia IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0001973 Autoimmune thrombocytopenia IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002007 Frontal bossing IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002072 Chorea IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002090 Pneumonia IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002090 Pneumonia IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002091 Restrictive ventilatory defect IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002119 Ventriculomegaly IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002205 Recurrent respiratory infections IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002315 Headache IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002478 Progressive spastic quadriplegia IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002514 Cerebral calcification IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002514 Cerebral calcification IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002518 Abnormal periventricular white matter morphology IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002633 Vasculitis IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002650 Scoliosis IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002657 Spondylometaphyseal dysplasia IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002694 Sclerosis of skull base IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002716 Lymphadenopathy IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002719 Recurrent infections IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002725 Systemic lupus erythematosus IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002725 Systemic lupus erythematosus IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002751 Kyphoscoliosis IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002808 Kyphosis IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002938 Lumbar hyperlordosis IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002958 Immune dysregulation IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002960 Autoimmunity IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002960 Autoimmunity IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0002979 Bowing of the legs IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0003016 Metaphyseal widening IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0003025 Metaphyseal irregularity IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0003301 Irregular vertebral endplates IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0003326 Myalgia IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0003493 Antinuclear antibody positivity IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0003493 Antinuclear antibody positivity IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0003521 Disproportionate short-trunk short stature IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0003577 Congenital onset IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0003621 Juvenile onset IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0004322 Short stature IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0004322 Short stature IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0004979 Metaphyseal sclerosis IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0005374 Cellular immunodeficiency IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0005387 Combined immunodeficiency IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0005403 T lymphocytopenia IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0005576 Tubulointerstitial fibrosis IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0005681 Juvenile rheumatoid arthritis IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0005681 Juvenile rheumatoid arthritis IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0007526 Hypopigmented skin patches on arms IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0009826 Limb undergrowth IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0009882 Short distal phalanx of finger IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0011108 Recurrent sinusitis IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0011463 Childhood onset IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0011800 Midface retrusion IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0011800 Midface retrusion IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0012115 Hepatitis IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0012514 Lower limb pain IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0012622 Chronic kidney disease IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0020151 Anti-dsDNA antibody positivity IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0030038 Enchondroma IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0030047 Abnormal lateral ventricle morphology IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0030320 Increased intervertebral space IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0030880 Raynaud phenomenon IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0030880 Raynaud phenomenon IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0032252 Granuloma IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0100255 Metaphyseal dysplasia IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0100255 Metaphyseal dysplasia IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0100866 Short iliac bones IAGP H RGD:8699517 20230821 HPO MIM:607944 10073 ACP5 acid phosphatase 5, tartrate resistant gene HP:0410263 Brain imaging abnormality IAGP H RGD:8699517 20230821 HPO ORPHA:1855 10216 ATP7A ATPase copper transporting alpha gene HP:0000010 Recurrent urinary tract infections IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0000015 Bladder diverticulum IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0000015 Bladder diverticulum IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0000015 Bladder diverticulum IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0000023 Inguinal hernia IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0000023 Inguinal hernia IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0000126 Hydronephrosis IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0000174 Abnormal palate morphology IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0000218 High palate IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0000239 Large fontanelles IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0000248 Brachycephaly IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0000252 Microcephaly IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0000252 Microcephaly IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0000269 Prominent occiput IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0000270 Delayed cranial suture closure IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0000271 Abnormality of the face IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0000275 Narrow face IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0000276 Long face IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0000293 Full cheeks IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0000298 Mask-like facies IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0000343 Long philtrum IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0000343 Long philtrum IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0000347 Micrognathia IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0000348 High forehead IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0000348 High forehead IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0000444 Convex nasal ridge IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0000472 Long neck IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0000494 Downslanted palpebral fissures IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0000708 Atypical behavior IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0000717 Autism IAGP RGD:14351525 H RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10216 ATP7A ATPase copper transporting alpha gene HP:0000759 Abnormal peripheral nervous system morphology IAGP H RGD:8699517 20230821 HPO MIM:300489 10216 ATP7A ATPase copper transporting alpha gene HP:0000767 Pectus excavatum IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0000767 Pectus excavatum IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0000767 Pectus excavatum IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0000768 Pectus carinatum IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0000768 Pectus carinatum IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0000774 Narrow chest IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0000774 Narrow chest IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0000774 Narrow chest IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0000885 Broad ribs IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0000894 Short clavicles IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0000916 Broad clavicles IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0000926 Platyspondyly IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0000926 Platyspondyly IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0000929 Abnormal skull morphology IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0000934 Chondrocalcinosis IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0000938 Osteopenia IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0000939 Osteoporosis IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0000939 Osteoporosis IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0000939 Osteoporosis IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0000939 Osteoporosis IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0000944 Abnormal metaphysis morphology IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0000952 Jaundice IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0000958 Dry skin IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0000973 Cutis laxa IAGP H RGD:11252182|PMID:7842019 20160628 RGD DNA:snp:intron:c.4268+3A>T (human) 10216 ATP7A ATPase copper transporting alpha gene HP:0000973 Cutis laxa IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0000974 Hyperextensible skin IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0000974 Hyperextensible skin IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0000974 Hyperextensible skin IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0000977 Soft skin IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0000978 Bruising susceptibility IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0000978 Bruising susceptibility IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0000987 Atypical scarring of skin IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0000987 Atypical scarring of skin IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0001010 Hypopigmentation of the skin IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0001072 Thickened skin IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0001156 Brachydactyly IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0001241 Capitate-hamate fusion IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0001249 Intellectual disability IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0001249 Intellectual disability IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0001249 Intellectual disability IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0001249 Intellectual disability IAGP RGD:38494810 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Nonprogressive mental retardation PMID:25741868|PMID:28492532 10216 ATP7A ATPase copper transporting alpha gene HP:0001249 Intellectual disability IAGP RGD:38597595 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 10216 ATP7A ATPase copper transporting alpha gene HP:0001249 Intellectual disability IAGP RGD:38597596 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Nonprogressive mental retardation PMID:25741868|PMID:28492532 10216 ATP7A ATPase copper transporting alpha gene HP:0001250 Seizure IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0001250 Seizure IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0001250 Seizure IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0001252 Hypotonia IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0001252 Hypotonia IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0001252 Hypotonia IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0001257 Spasticity IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0001263 Global developmental delay IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0001263 Global developmental delay IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0001265 Hyporeflexia IAGP H RGD:8699517 20230821 HPO MIM:300489 10216 ATP7A ATPase copper transporting alpha gene HP:0001276 Hypertonia IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0001276 Hypertonia IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0001278 Orthostatic hypotension IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0001324 Muscle weakness IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0001328 Specific learning disability IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0001377 Limited elbow extension IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0001382 Joint hypermobility IAGP H RGD:8699517 20240118 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0001382 Joint hypermobility IAGP H RGD:8699517 20240118 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0001382 Joint hypermobility IAGP H RGD:8699517 20240118 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0001382 Joint hypermobility IAGP H RGD:8699517 20240118 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0001385 Hip dysplasia IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0001396 Cholestasis IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0001419 X-linked recessive inheritance IAGP H RGD:8699517 20230821 HPO MIM:300489 10216 ATP7A ATPase copper transporting alpha gene HP:0001419 X-linked recessive inheritance IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0001419 X-linked recessive inheritance IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0001510 Growth delay IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0001510 Growth delay IAGP H RGD:8699517 20241212 HPO ORPHA:388 10216 ATP7A ATPase copper transporting alpha gene HP:0001511 Intrauterine growth retardation IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0001511 Intrauterine growth retardation IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0001531 Failure to thrive in infancy IAGP H RGD:8699517 20230821 HPO ORPHA:388 10216 ATP7A ATPase copper transporting alpha gene HP:0001537 Umbilical hernia IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0001561 Polyhydramnios IAGP H RGD:8699517 20241212 HPO ORPHA:388 10216 ATP7A ATPase copper transporting alpha gene HP:0001582 Redundant skin IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0001596 Alopecia IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0001761 Pes cavus IAGP H RGD:8699517 20230821 HPO MIM:300489 10216 ATP7A ATPase copper transporting alpha gene HP:0001763 Pes planus IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0001763 Pes planus IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0001824 Weight loss IAGP H RGD:8699517 20230821 HPO ORPHA:388 10216 ATP7A ATPase copper transporting alpha gene HP:0001943 Hypoglycemia IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0002014 Diarrhea IAGP H RGD:8699517 20230821 HPO ORPHA:388 10216 ATP7A ATPase copper transporting alpha gene HP:0002015 Dysphagia IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0002017 Nausea and vomiting IAGP H RGD:8699517 20230821 HPO ORPHA:388 10216 ATP7A ATPase copper transporting alpha gene HP:0002017 Nausea and vomiting IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0002019 Constipation IAGP H RGD:8699517 20230821 HPO ORPHA:388 10216 ATP7A ATPase copper transporting alpha gene HP:0002020 Gastroesophageal reflux IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0002024 Malabsorption IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0002027 Abdominal pain IAGP H RGD:8699517 20230821 HPO ORPHA:388 10216 ATP7A ATPase copper transporting alpha gene HP:0002028 Chronic diarrhea IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0002033 Poor suck IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0002036 Hiatus hernia IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0002036 Hiatus hernia IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0002045 Hypothermia IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0002045 Hypothermia IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0002045 Hypothermia IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0002072 Chorea IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0002170 Intracranial hemorrhage IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0002170 Intracranial hemorrhage IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0002208 Coarse hair IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0002208 Coarse hair IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0002224 Woolly hair IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0002239 Gastrointestinal hemorrhage IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0002251 Aganglionic megacolon IAGP H RGD:8699517 20230821 HPO ORPHA:388 10216 ATP7A ATPase copper transporting alpha gene HP:0002299 Brittle hair IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0002317 Unsteady gait IAGP H RGD:8699517 20230821 HPO MIM:300489 10216 ATP7A ATPase copper transporting alpha gene HP:0002376 Developmental regression IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0002376 Developmental regression IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0002421 Poor head control IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0002460 Distal muscle weakness IAGP H RGD:8699517 20230821 HPO MIM:300489 10216 ATP7A ATPase copper transporting alpha gene HP:0002514 Cerebral calcification IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0002521 Hypsarrhythmia IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0002578 Gastroparesis IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0002617 Vascular dilatation IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0002617 Vascular dilatation IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0002645 Wormian bones IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0002645 Wormian bones IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0002650 Scoliosis IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0002673 Coxa valga IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0002673 Coxa valga IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0002705 High, narrow palate IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0002748 Rickets IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0002749 Osteomalacia IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0002754 Osteomyelitis IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0002757 Recurrent fractures IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0002797 Osteolysis IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0002808 Kyphosis IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0002808 Kyphosis IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0002812 Coxa vara IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0002827 Hip dislocation IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0002857 Genu valgum IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0002857 Genu valgum IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0002862 Bladder carcinoma IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0002936 Distal sensory impairment IAGP H RGD:8699517 20230821 HPO MIM:300489 10216 ATP7A ATPase copper transporting alpha gene HP:0002991 Abnormal fibula morphology IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0003016 Metaphyseal widening IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0003019 Abnormality of the wrist IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0003066 Limited knee extension IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0003172 Abnormal pubic bone morphology IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0003270 Abdominal distention IAGP H RGD:8699517 20241212 HPO ORPHA:388 10216 ATP7A ATPase copper transporting alpha gene HP:0003276 Pelvic bone exostoses IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0003445 EMG: neuropathic changes IAGP H RGD:8699517 20230821 HPO MIM:300489 10216 ATP7A ATPase copper transporting alpha gene HP:0003487 Babinski sign IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0003593 Infantile onset IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0003621 Juvenile onset IAGP H RGD:8699517 20230821 HPO MIM:300489 10216 ATP7A ATPase copper transporting alpha gene HP:0003677 Slowly progressive IAGP H RGD:8699517 20230821 HPO MIM:300489 10216 ATP7A ATPase copper transporting alpha gene HP:0003693 Distal amyotrophy IAGP H RGD:8699517 20230821 HPO MIM:300489 10216 ATP7A ATPase copper transporting alpha gene HP:0003777 Pili torti IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0003819 Death in childhood IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0003874 Humerus varus IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0004279 Short palm IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0004322 Short stature IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0004322 Short stature IAGP H RGD:8699517 20230821 HPO ORPHA:388 10216 ATP7A ATPase copper transporting alpha gene HP:0004387 Enterocolitis IAGP H RGD:8699517 20241212 HPO ORPHA:388 10216 ATP7A ATPase copper transporting alpha gene HP:0004408 Abnormality of the sense of smell IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0004474 Persistent open anterior fontanelle IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0005054 Metaphyseal spurs IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0005214 Intestinal obstruction IAGP H RGD:8699517 20230821 HPO ORPHA:388 10216 ATP7A ATPase copper transporting alpha gene HP:0005293 Venous insufficiency IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0005293 Venous insufficiency IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0005302 Carotid artery tortuosity IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0005344 Abnormal carotid artery morphology IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0005599 Hypopigmentation of hair IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0005743 Avascular necrosis of the capital femoral epiphysis IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0005792 Short humerus IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0006000 Ureteral obstruction IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0006487 Bowing of the long bones IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0006507 Aplasia/hypoplasia of the humerus IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0006579 Prolonged neonatal jaundice IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0006660 Aplastic clavicle IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0007269 Spinal muscular atrophy IAGP H RGD:8699517 20230821 HPO MIM:300489 10216 ATP7A ATPase copper transporting alpha gene HP:0007420 Spontaneous hematomas IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0008070 Sparse hair IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0008070 Sparse hair IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0008368 Tarsal synostosis IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0008818 Large iliac wing IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0008872 Feeding difficulties in infancy IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0009556 Absent tibia IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0010562 Keloids IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0010837 Decreased circulating ceruloplasmin concentration IAGP H RGD:11252186|PMID:21208200 20160628 RGD DNA:mutations:multiple 10216 ATP7A ATPase copper transporting alpha gene HP:0010837 Decreased circulating ceruloplasmin concentration IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0010837 Decreased circulating ceruloplasmin concentration IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0011097 Epileptic spasm IAGP H RGD:8699517 20230821 HPO MIM:309400 10216 ATP7A ATPase copper transporting alpha gene HP:0011967 Decreased circulating copper concentration IAGP H RGD:11252186|PMID:21208200 20160628 RGD DNA:mutations:multiple 10216 ATP7A ATPase copper transporting alpha gene HP:0011967 Decreased circulating copper concentration IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0011968 Feeding difficulties IAGP H RGD:8699517 20241212 HPO ORPHA:388 10216 ATP7A ATPase copper transporting alpha gene HP:0012115 Hepatitis IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0012378 Fatigue IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0012719 Functional abnormality of the gastrointestinal tract IAGP H RGD:8699517 20230821 HPO ORPHA:388 10216 ATP7A ATPase copper transporting alpha gene HP:0025270 Abnormal esophagus physiology IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0031369 Colon perforation IAGP H RGD:8699517 20241212 HPO ORPHA:388 10216 ATP7A ATPase copper transporting alpha gene HP:0034754 Bilious emesis IAGP H RGD:8699517 20241212 HPO ORPHA:388 10216 ATP7A ATPase copper transporting alpha gene HP:0100240 Synostosis of joints IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0100541 Femoral hernia IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0100545 Arterial stenosis IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0100633 Esophagitis IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0100699 Scarring IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0100777 Exostoses IAGP H RGD:8699517 20230821 HPO MIM:304150 10216 ATP7A ATPase copper transporting alpha gene HP:0100777 Exostoses IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0100777 Exostoses IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0100790 Hernia IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0100806 Sepsis IAGP H RGD:8699517 20230821 HPO ORPHA:388 10216 ATP7A ATPase copper transporting alpha gene HP:0100806 Sepsis IAGP H RGD:8699517 20230821 HPO ORPHA:565 10216 ATP7A ATPase copper transporting alpha gene HP:0100874 Thick hair IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:0200021 Down-sloping shoulders IAGP H RGD:8699517 20230821 HPO ORPHA:198 10216 ATP7A ATPase copper transporting alpha gene HP:6000224 Delayed passage of meconium IAGP H RGD:8699517 20241212 HPO ORPHA:388 10241 CEACAM1 CEA cell adhesion molecule 1 gene HP:0100753 Schizophrenia IAGP RGD:14351801 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0000006 Autosomal dominant inheritance IAGP H RGD:8699517 20230821 HPO MIM:601005 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0000006 Autosomal dominant inheritance IAGP H RGD:8699517 20230821 HPO MIM:611875 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0000006 Autosomal dominant inheritance IAGP H RGD:8699517 20230821 HPO MIM:618447 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0000006 Autosomal dominant inheritance IAGP H RGD:8699517 20230821 HPO MIM:620029 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0000160 Narrow mouth IAGP H RGD:8699517 20230821 HPO MIM:620029 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0000219 Thin upper lip vermilion IAGP H RGD:8699517 20230821 HPO MIM:601005 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0000219 Thin upper lip vermilion IAGP H RGD:8699517 20230821 HPO MIM:620029 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0000233 Thin vermilion border IAGP H RGD:8699517 20230821 HPO MIM:620029 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0000311 Round face IAGP H RGD:8699517 20230821 HPO MIM:601005 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0000311 Round face IAGP H RGD:8699517 20230821 HPO MIM:620029 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0000347 Micrognathia IAGP H RGD:8699517 20230821 HPO MIM:620029 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0000365 Hearing impairment IAGP H RGD:8699517 20230821 HPO ORPHA:101016 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0000369 Low-set ears IAGP H RGD:8699517 20230821 HPO MIM:620029 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0000520 Proptosis IAGP H RGD:8699517 20230821 HPO MIM:620029 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0000586 Shallow orbits IAGP H RGD:8699517 20230821 HPO MIM:620029 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0000609 Optic nerve hypoplasia IAGP H RGD:8699517 20230821 HPO MIM:620029 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0000691 Microdontia IAGP H RGD:8699517 20230821 HPO MIM:601005 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0000717 Autism IAGP H RGD:8699517 20230821 HPO MIM:601005 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0000729 Autistic behavior IAGP RGD:10044546 H RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0000729 Autistic behavior IAGP RGD:156435457 H RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0000750 Delayed speech and language development IAGP H RGD:8699517 20230821 HPO MIM:620029 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0000821 Hypothyroidism IAGP H RGD:8699517 20230821 HPO MIM:601005 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001159 Syndactyly IAGP H RGD:8699517 20230821 HPO MIM:618447 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001195 Single umbilical artery IAGP H RGD:8699517 20230821 HPO MIM:601005 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001197 Abnormality of prenatal development or birth IAGP H RGD:8699517 20230821 HPO ORPHA:101016 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001249 Intellectual disability IAGP H RGD:8699517 20230821 HPO MIM:601005 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001249 Intellectual disability IAGP H RGD:8699517 20230821 HPO MIM:618447 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001249 Intellectual disability IAGP H RGD:8699517 20230821 HPO MIM:620029 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001249 Intellectual disability IAGP RGD:40814391 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001249 Intellectual disability IAGP RGD:40814392 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001249 Intellectual disability IAGP RGD:40814433 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001250 Seizure IAGP H RGD:8699517 20230821 HPO MIM:601005 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001250 Seizure IAGP H RGD:8699517 20230821 HPO MIM:620029 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001250 Seizure IAGP H RGD:8699517 20230821 HPO ORPHA:101016 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001250 Seizure IAGP RGD:12741737 H RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:34163037 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001250 Seizure IAGP RGD:151758210 H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:33818783 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001252 Hypotonia IAGP H RGD:8699517 20230821 HPO MIM:601005 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001252 Hypotonia IAGP H RGD:8699517 20230821 HPO MIM:620029 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001263 Global developmental delay IAGP H RGD:8699517 20230821 HPO MIM:601005 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001263 Global developmental delay IAGP H RGD:8699517 20230821 HPO MIM:620029 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001270 Motor delay IAGP H RGD:8699517 20230821 HPO MIM:620029 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001270 Motor delay IAGP RGD:15015291 H RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Motor delay 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001279 Syncope IAGP H RGD:8699517 20230821 HPO MIM:611875 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001279 Syncope IAGP H RGD:8699517 20230821 HPO MIM:618447 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001279 Syncope IAGP H RGD:8699517 20230821 HPO ORPHA:101016 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001279 Syncope IAGP H RGD:8699517 20230821 HPO ORPHA:130 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001371 Flexion contracture IAGP H RGD:8699517 20230821 HPO MIM:620029 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001601 Laryngomalacia IAGP H RGD:8699517 20230821 HPO MIM:620029 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001629 Ventricular septal defect IAGP H RGD:8699517 20230821 HPO MIM:601005 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001635 Congestive heart failure IAGP RGD:9692736 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001636 Tetralogy of Fallot IAGP H RGD:8699517 20230821 HPO MIM:601005 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001638 Cardiomyopathy IAGP RGD:10046151 H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25184293|PMID:25741868|PMID:26230511|PMID:26386135|PMID:27502440|PMID:28492532|PMID:29046645|PMID:30345660 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001639 Hypertrophic cardiomyopathy IAGP RGD:10046254 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:32145446 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001639 Hypertrophic cardiomyopathy IAGP RGD:401948061 H RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:33797204 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001639 Hypertrophic cardiomyopathy IAGP RGD:8640321 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20817017|PMID:22840528|PMID:24439875|PMID:25260352|PMID:25741868|PMID:26230511|PMID:26498160|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001640 Cardiomegaly IAGP H RGD:8699517 20230821 HPO MIM:601005 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001643 Patent ductus arteriosus IAGP H RGD:8699517 20230821 HPO MIM:601005 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001645 Sudden cardiac death IAGP H RGD:8699517 20230821 HPO MIM:611875 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001645 Sudden cardiac death IAGP H RGD:8699517 20230821 HPO MIM:618447 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001645 Sudden cardiac death IAGP H RGD:8699517 20230821 HPO ORPHA:101016 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001645 Sudden cardiac death IAGP RGD:10044530 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001645 Sudden cardiac death IAGP RGD:11040158 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Sudden cardiac death 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001645 Sudden cardiac death IAGP RGD:13508783 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Premature sudden cardiac death 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001649 Tachycardia IAGP H RGD:8699517 20230821 HPO ORPHA:130 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001655 Patent foramen ovale IAGP H RGD:8699517 20230821 HPO MIM:601005 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP H RGD:8699517 20230821 HPO MIM:601005 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP H RGD:8699517 20230821 HPO MIM:620029 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044373 H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044405 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044406 H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044518 H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044520 H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044521 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044522 H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26383259|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044523 H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044524 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25633834|PMID:25741868|PMID:27930701|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044525 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044526 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25633834|PMID:25741868|PMID:28492532|PMID:30279520 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044527 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044529 H 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 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044530 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044531 H 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 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044533 H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:30847666 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044534 H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:32233023 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044535 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044536 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044537 H 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 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044540 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044542 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044543 H 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 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044544 H 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 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044546 H RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044547 H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044553 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044557 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044558 H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044559 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:30279520 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044560 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044561 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044562 H RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:34999275 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044565 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044566 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044567 H RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:22584458|PMID:25633834|PMID:25741868|PMID:28492532|PMID:32145446 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044568 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044570 H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044575 H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044577 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:33191761 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044578 H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044580 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044583 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044584 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044585 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044881 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044882 H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25633834|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044883 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044884 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044885 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044886 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044887 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044888 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044889 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044890 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044891 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044892 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044893 H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044894 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26743238|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044895 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044897 H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044899 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044900 H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:31737537 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044901 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044902 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044903 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044904 H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044905 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044907 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044908 H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23631430|PMID:25741868|PMID:27231019|PMID:28341588|PMID:28492532|PMID:31293105|PMID:31737537 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044909 H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26637798|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10044975 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10046144 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10046148 H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:27707468|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10046149 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10046151 H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25184293|PMID:25741868|PMID:26230511|PMID:26386135|PMID:27502440|PMID:28492532|PMID:29046645|PMID:30345660 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10046152 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10046253 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10046254 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:32145446 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10046255 H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25633834|PMID:25650408|PMID:25741868|PMID:26159999|PMID:26173111|PMID:27711072|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10050055 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10050153 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10050154 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10050657 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10050902 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10051227 H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10051983 H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10052004 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10052026 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10052027 H RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:30847666 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10052269 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:27930701|PMID:28492532|PMID:30279520 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10052283 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10052303 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10052304 H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10052333 H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25633834|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10052341 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10052342 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10052360 H RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25260352|PMID:25633834|PMID:25741868|PMID:28492532|PMID:30847666 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10052374 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10052453 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10052969 H RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17576681|PMID:28492532|PMID:9536098 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10053389 H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10408649 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10408660 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10408756 H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10408763 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10408850 H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24690944|PMID:25741868|PMID:27218670|PMID:28492532|PMID:30847666|PMID:31453089 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10408874 H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10766886 H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:20031608|PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10767090 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:10767985 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11039599 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11040002 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23677916|PMID:28492532|PMID:28600387|PMID:32161207 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11040075 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11345011 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11346754 H RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11347507 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11348319 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11348725 H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11348785 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11348953 H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11349310 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11349449 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11351507 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11544097 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11545545 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11545729 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11545902 H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11546030 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11546061 H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11546650 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11547750 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11547752 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11547951 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11548329 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:27005929|PMID:27871843|PMID:28492532|PMID:28493952 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11550153 H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11550179 H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11551599 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11551711 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11581585 H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11602640 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11603702 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11603950 H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11604207 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11606043 H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11606057 H RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11607268 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11607640 H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11607796 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11607828 H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11609729 H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:31539150 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11611706 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11613775 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11614186 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11614452 H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11615215 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11617556 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:30847666 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11618023 H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11618550 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11618755 H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:31737537 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11618800 H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11618903 H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11619865 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11620456 H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11620597 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11620794 H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11620828 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11621183 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11621453 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11623855 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11624446 H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:30847666 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11636976 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11637295 H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11637328 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11638536 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11638544 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11641056 H RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11641168 H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11641209 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11646071 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11650992 H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11657226 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11659335 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11659456 H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11659950 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11663554 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:11664365 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126725141 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126725350 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126725384 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126726431 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126728368 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126728446 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17576681|PMID:28492532|PMID:9536098 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126729300 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126730202 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126732222 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126732315 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126732840 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126733144 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126733360 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126734734 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126735463 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126736000 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126736475 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126736569 H RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25633834|PMID:25741868|PMID:28492532|PMID:34999275 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126736614 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126740237 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126740240 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126740332 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126740888 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126742043 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126744211 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126746236 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126746321 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126746676 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126746697 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126747098 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126747658 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126747921 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126748181 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126748362 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126748549 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126750604 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126751689 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126751758 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126752361 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17576681|PMID:28492532|PMID:9536098 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126754022 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126754359 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126754640 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126754771 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126754994 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126755296 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:29568937 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126756088 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126756282 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126756320 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126756999 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126757239 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126757818 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126758728 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126760256 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126760311 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126761784 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126762004 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126762346 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126764110 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126765870 H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126766942 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126767115 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:29247119 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126768050 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126768119 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126770180 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126770182 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126770877 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126771119 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126771141 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17576681|PMID:28492532|PMID:9536098 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126771452 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126772316 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126772558 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126772685 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126772705 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126773956 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126774959 H RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126908464 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126908613 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126909357 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126910025 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126913269 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126914040 H RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:36436328 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126914150 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126914766 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126914922 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126915960 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126916040 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126917140 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126917272 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126917943 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126918055 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126918463 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126919446 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126919544 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126920664 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126922406 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126922407 H RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17576681|PMID:28492532|PMID:9536098 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126922632 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126922651 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126923609 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126923902 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126924106 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126924552 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:126924824 H RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127232381 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127232735 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127233180 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127233709 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127234978 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127237122 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127238859 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127239446 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127239701 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127240564 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127241171 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127241663 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127245695 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127247164 H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127247241 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127248588 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127248673 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127249123 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127250254 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127250279 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127250283 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127252774 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127253910 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127254009 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127254173 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127254717 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127255873 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127256647 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127256918 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127258313 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127260138 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127260605 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127260743 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127262178 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127262343 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127262375 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127262722 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127264811 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127265526 H RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127266723 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127266840 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127267352 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127269117 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127270571 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127270664 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127273180 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127273804 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127275625 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127276240 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127276366 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127276666 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127276849 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127276896 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127277585 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127277589 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127277802 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127278041 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127278168 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127278277 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127278843 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127279384 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127279853 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127279932 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127280169 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127280588 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127280712 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127281693 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127282222 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127282295 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127282615 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127282802 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127283736 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127286427 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127286668 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127289448 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127290061 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127290271 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127291124 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127291419 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127292049 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127293024 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127293710 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127293810 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127294160 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127294852 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127295944 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127296314 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127296621 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127297631 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127298079 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127298982 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127300071 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127301228 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127301274 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127301498 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127301851 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127302087 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127305446 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127305795 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127309335 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127309443 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127310604 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127310889 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127310980 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127311876 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127312248 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127312380 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127314263 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127314584 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127315230 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127316108 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127316128 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127316425 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127316729 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127316920 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127319038 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127320303 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127320669 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127321435 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127321702 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127322427 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127324862 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127325380 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127326018 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127328104 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127328562 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127328608 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127328649 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127329076 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127329098 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127329715 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127329925 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127330061 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127330110 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127330901 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127331347 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127331931 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127332832 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127333086 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127333516 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127336385 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127336764 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:127337451 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12740989 H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12741276 H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25637381|PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12742086 H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26253506|PMID:28492532|PMID:30025578|PMID:30172029|PMID:31110529|PMID:31408100|PMID:31430211|PMID:32161207 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12833078 H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12833096 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12833170 H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12833319 H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12834049 H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12834750 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12835476 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12835509 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12836230 H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12836452 H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12836810 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12837129 H RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25260352|PMID:25741868|PMID:28492532|PMID:28704380|PMID:31737537 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12837416 H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12837520 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12837833 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12838132 H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12838178 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12838240 H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12838676 H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12838807 H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12839025 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12840534 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12840650 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12840870 H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12841277 H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17576681|PMID:28492532|PMID:9536098 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12841337 H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12841866 H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12842160 H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12842902 H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12843281 H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12843335 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12843411 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12843722 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25500949|PMID:25741868|PMID:27925203|PMID:28492532|PMID:30345660 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12844973 H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12845086 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12845367 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12845432 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12845780 H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12846100 H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12846110 H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12846804 H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12846974 H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12847828 H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12848280 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12896390 H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897010 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897035 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897037 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897053 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897065 H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897113 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897131 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897136 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897152 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897167 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897191 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897209 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897226 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897257 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897367 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897384 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897394 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897407 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897415 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897524 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897546 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897576 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897583 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897591 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897601 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897626 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897637 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897741 H RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17576681|PMID:28492532|PMID:9536098 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897793 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897834 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897836 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897857 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19061337|PMID:23145875|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897876 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897939 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897942 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897952 H RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:28878402 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12897968 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12898053 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17576681|PMID:28492532|PMID:9536098 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12898072 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12898102 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12898193 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12898219 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12898276 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12898284 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12898293 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12898300 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12898316 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12898349 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12898356 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12898377 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12898384 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12898387 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12898458 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12900093 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12900300 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:28600387|PMID:33488405 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12901009 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12901271 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12901928 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12902104 H RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:30847666 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:12913987 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13208187 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13212056 H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13436221 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13446258 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13465466 H RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13465794 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13466776 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13468075 H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13468461 H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13468639 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13469332 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13470383 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25633834|PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13471187 H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13472192 H RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:29396561 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13472426 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13472607 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13472937 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13473003 H RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13474829 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13476010 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13476793 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13476911 H RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23677916|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13477228 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13479205 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13480491 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13480721 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13480931 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13481891 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24981977|PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13483005 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13483431 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13483650 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13484382 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13485125 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13485981 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13486194 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13486306 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13486638 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13487064 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13487405 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13487472 H RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13488093 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13489057 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13489570 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13490102 H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13490928 H RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17576681|PMID:25260352|PMID:25741868|PMID:28492532|PMID:32145446|PMID:9536098 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13491868 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13491924 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13492277 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13492443 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13492478 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13493233 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13493911 H RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13493915 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13494687 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13494690 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13495206 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13495268 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13495437 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13495949 H RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13496108 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13498619 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13501116 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13501425 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13501675 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13502290 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13502373 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13502469 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13503809 H RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25341504|PMID:25741868|PMID:27711072|PMID:28492532|PMID:30662450 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13504090 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13504273 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13519937 H RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13520158 H RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13520462 H RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13521484 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13521646 H RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13521713 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13522346 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13525296 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13525369 H RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13527197 H RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13528611 H RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13528642 H RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium voltage-gated channel subunit alpha1 C gene HP:0001657 Prolonged QT interval IAGP RGD:13528859 H RGD:8554872 20210323 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10268 CACNA1C calcium vo