Sugi Variant

Sugi Variant/DSC2

DSC2 — 1980 ClinVar variants

All ClinVar germline DSC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1029 flagged for review →

52 Pathogenic · 8 Pathogenic/Likely pathogenic · 36 Likely pathogenic · 208 Conflicting · 44 Benign · 31 Benign/Likely benign · 520 Likely benign · 1081 Uncertain significance

Full DSC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1029

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 84

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 568

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 568

Predictors split 377

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 377

All DSC2 variants

Pathogenic 52

  • p.Gln554Ter Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Gln620Ter Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Glu593Ter Multiple submitters Cardiovascular phenotype
  • p.Leu229fs Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Leu396fs Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Pro228_Leu229insTer Multiple submitters Cardiovascular phenotype
  • p.Pro729fs Multiple submitters Cardiovascular phenotype
  • p.Tyr196fs Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.1263+2T>G Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.354+3A>G Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Ala45fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Ala699fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Asn413fs Single submitter
  • p.Asn439fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Asn573_Ser574insTer Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Asp191fs Single submitter Cardiovascular phenotype
  • p.Cys769Ter Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Gln310fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Gln331Ter Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Gln476Ter Single submitter Cardiovascular phenotype
  • p.Gln734Ter Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Gln735Ter Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Glu372Ter Single submitter
  • p.Glu782Ter Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.His351fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Ile342fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Leu195fs Single submitter
  • p.Leu37fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Leu396Ter Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Lys421fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Lys91fs Single submitter Cardiovascular phenotype
  • p.Phe243fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Phe250fs Single submitter Cardiovascular phenotype
  • p.Phe295fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Phe712fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Pro153fs Single submitter Cardiovascular phenotype
  • p.Ser526Ter Single submitter arrhythmogenic right ventricular cardiomyopathy
  • p.Ser611fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Ser614fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Thr168fs Single submitter arrhythmogenic right ventricular cardiomyopathy
  • p.Thr216fs Single submitter familial isolated arrhythmogenic right ventricular dysplasia
  • p.Thr524fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Thr59fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Thr713fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Trp389Ter Single submitter Cardiovascular phenotype
  • p.Trp517fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Tyr171Ter Single submitter Cardiovascular phenotype
  • p.Tyr248Ter Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Tyr282fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Tyr332Ter Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Val458fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Thr477fs No assertion criteria arrhythmogenic right ventricular dysplasia 11

Pathogenic/Likely pathogenic 8

  • p.Gln158fs Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Glu127Ter Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Ile26fs Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Lys42fs Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Phe708fs Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Trp10Ter Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Trp695Ter Multiple submitters Cardiovascular phenotype
  • p.Tyr221Ter Multiple submitters Cardiovascular phenotype

Likely pathogenic 36

  • c.1521-1G>A Multiple submitters Cardiovascular phenotype
  • c.1664-1G>A Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.354+2T>A Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.355-1G>A Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Ser740Ter Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.1264-1G>A Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1264-2A>T Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1520+1G>A Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.154+2T>A Single submitter cardiomyopathy
  • c.1663+1G>A Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1888+2T>C Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2250+1G>C Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2250+1G>T Single submitter Cardiovascular phenotype
  • c.2251-74_2279del Single submitter
  • c.354+1G>T Single submitter
  • c.474+1G>T Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.474+2T>A Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.69+2T>G Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.942+1G>A Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Arg279fs Single submitter
  • p.Asn147fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Asn34fs Single submitter
  • p.Asn546fs Single submitter
  • p.Asp347fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Gln287Ter Single submitter DSC2-related disorder
  • p.Glu236Ter Single submitter
  • p.Ile527fs Single submitter
  • p.Lys42Ter Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Phe250Ser Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Pro641fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Ser308Ter Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Tyr170Ter Single submitter
  • p.Val529fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Val582fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.154+1G>A No assertion criteria arrhythmogenic right ventricular cardiomyopathy
  • c.70-1G>T No assertion criteria arrhythmogenic right ventricular dysplasia 11

Conflicting classifications of pathogenicity 208

  • c.1077+9A>G Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1264-4G>A Single submitter Cardiovascular phenotype
  • c.1521-13T>A Single submitter cardiomyopathy
  • c.1521-5A>G Single submitter cardiomyopathy
  • c.1521-7C>T Single submitter familial isolated arrhythmogenic right ventricular dysplasia
  • c.154+2T>C Single submitter cardiomyopathy
  • c.154+6G>A Single submitter cardiomyopathy
  • c.155-3C>T Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1663+4A>G Single submitter Cardiovascular phenotype
  • c.1664-1G>C Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1888+1G>C Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2125+1del Single submitter DSC2-related disorder
  • c.2126-11T>C Single submitter cardiomyopathy
  • c.2126-7C>G Single submitter familial isolated arrhythmogenic right ventricular dysplasia
  • c.2250+12G>T Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2250+2T>C Single submitter familial isolated arrhythmogenic right ventricular dysplasia
  • c.2250+3A>G Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2251-5T>G Single submitter Cardiovascular phenotype
  • c.2509-116A>G Single submitter cardiomyopathy
  • c.2509-11C>G Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.354+6C>T Single submitter familial isolated arrhythmogenic right ventricular dysplasia
  • c.355-10A>C Single submitter familial isolated arrhythmogenic right ventricular dysplasia
  • c.474+5C>T Single submitter Cardiovascular phenotype
  • c.474+6G>A Single submitter cardiomyopathy
  • c.475-13A>G Single submitter cardiomyopathy
  • c.475-3T>C Single submitter cardiomyopathy
  • c.475-5T>C Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.631-1G>A Single submitter Cardiovascular phenotype
  • c.631-2A>G Single submitter Cardiovascular phenotype
  • c.69+1G>A Single submitter Cardiovascular phenotype
  • c.69+2T>C Single submitter cardiomyopathy
  • c.776-12T>G Single submitter familial isolated arrhythmogenic right ventricular dysplasia
  • c.776-13dup Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.776-13T>G Single submitter cardiomyopathy
  • c.776-3T>C Single submitter cardiomyopathy
  • c.943-1G>A Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Ala133Thr Single submitter arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Ala23= Single submitter cardiomyopathy
  • p.Ala28Ser Single submitter familial dilated cardiomyopathy ⚠
  • p.Ala31_Cys32insTer Single submitter Cardiovascular phenotype
  • p.Ala592Val Single submitter Cardiovascular phenotype ⚠
  • p.Ala596= Single submitter familial isolated arrhythmogenic right ventricular dysplasia
  • p.Ala596Val Single submitter Cardiovascular phenotype ⚠
  • p.Ala718fs Single submitter familial isolated arrhythmogenic right ventricular dysplasia
  • p.Ala763Thr Single submitter Cardiovascular phenotype ⚠
  • p.Ala800fs Single submitter cardiomyopathy
  • p.Ala800Ser Single submitter cardiomyopathy ⚠
  • p.Arg132His Single submitter Cardiovascular phenotype ⚠
  • p.Arg136= Single submitter Cardiovascular phenotype
  • p.Arg16Gln Single submitter cardiomyopathy ⚠
  • p.Arg183Trp Single submitter Cardiovascular phenotype ⚠
  • p.Arg203Cys Single submitter Cardiovascular phenotype ⚠
  • p.Arg279Ser Single submitter cardiomyopathy ⚠
  • p.Arg357His Single submitter arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Arg479Cys Single submitter Cardiovascular phenotype ⚠
  • p.Arg507= Single submitter Cardiovascular phenotype
  • p.Arg51= Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Arg634His Single submitter Cardiovascular phenotype ⚠
  • p.Arg634Leu Single submitter Cardiovascular phenotype ⚠
  • p.Arg680His Single submitter cardiomyopathy ⚠
  • p.Arg680Leu Single submitter cardiomyopathy ⚠
  • p.Arg798Leu Single submitter Cardiovascular phenotype ⚠
  • p.Arg810= Single submitter familial isolated arrhythmogenic right ventricular dysplasia
  • p.Arg833Cys Single submitter Cardiovascular phenotype ⚠
  • p.Arg833His Single submitter Cardiovascular phenotype ⚠
  • p.Arg875Gln Single submitter Cardiovascular phenotype ⚠
  • p.Asn439Asp Single submitter cardiomyopathy ⚠
  • p.Asn523Ser Single submitter cardiomyopathy ⚠
  • p.Asp30Asn Single submitter Cardiovascular phenotype ⚠
  • p.Asp569Glu Single submitter familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Asp640Asn Single submitter familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Asp731Asn Single submitter familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Cys709Tyr Single submitter Cardiovascular phenotype ⚠
  • p.Gln434Arg Single submitter Cardiovascular phenotype ⚠
  • p.Gln638fs Single submitter familial isolated arrhythmogenic right ventricular dysplasia
  • p.Gln638His Single submitter Cardiovascular phenotype ⚠
  • p.Gln72= Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Gln766His Single submitter Cardiovascular phenotype ⚠
  • p.Gln792Ter Single submitter familial isolated arrhythmogenic right ventricular dysplasia
  • p.Glu102Lys Single submitter Cardiovascular phenotype ⚠
  • p.Glu207Lys Single submitter Cardiovascular phenotype ⚠
  • p.Glu245Ala Single submitter Cardiovascular phenotype ⚠
  • p.Glu2Lys Single submitter Cardiovascular phenotype ⚠
  • p.Glu467= Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Glu46Lys Single submitter Cardiovascular phenotype ⚠
  • p.Glu601Ala Single submitter arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Glu825Asp Single submitter arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Glu90= Single submitter Cardiovascular phenotype
  • p.Glu90Ter Single submitter arrhythmogenic right ventricular cardiomyopathy
  • p.Gly12fs Single submitter familial isolated arrhythmogenic right ventricular dysplasia
  • p.Gly220= Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Gly259= Single submitter Cardiovascular phenotype
  • p.Gly286Val Single submitter Cardiovascular phenotype ⚠
  • p.Gly50Asp Single submitter familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Gly516Glu Single submitter Cardiovascular phenotype ⚠
  • p.Gly543Asp Single submitter cardiomyopathy ⚠
  • p.Gly556Glu Single submitter Cardiovascular phenotype ⚠
  • p.Gly657= Single submitter Cardiovascular phenotype
  • p.Gly687Ser Single submitter Cardiovascular phenotype ⚠
  • p.Gly720Arg Single submitter cardiomyopathy ⚠
  • p.Gly755Val Single submitter cardiomyopathy ⚠
  • p.Gly770Asp Single submitter Cardiovascular phenotype ⚠
  • p.Gly779Arg Single submitter cardiomyopathy ⚠
  • p.Gly789= Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Gly799Glu Single submitter familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Gly811fs Single submitter cardiomyopathy
  • p.Gly811Ter Single submitter Cardiovascular phenotype
  • p.Gly863Arg Single submitter Cardiovascular phenotype ⚠
  • p.Gly8Val Single submitter Cardiovascular phenotype ⚠
  • p.His124Arg Single submitter Cardiovascular phenotype ⚠
  • p.His124Tyr Single submitter Cardiovascular phenotype ⚠
  • p.His604Arg Single submitter arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.His679Tyr Single submitter Cardiovascular phenotype ⚠
  • p.His813Pro Single submitter familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Ile109Met Single submitter familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Ile212Val Single submitter Cardiovascular phenotype ⚠
  • p.Ile252fs Single submitter familial isolated arrhythmogenic right ventricular dysplasia
  • p.Ile252Val Single submitter Cardiovascular phenotype ⚠
  • p.Ile285Thr Single submitter arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Ile342Val Single submitter arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Ile475Thr Single submitter familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Ile520Thr Single submitter Cardiovascular phenotype ⚠
  • p.Ile527Met Single submitter familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Ile540Met Single submitter familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Ile565Val Single submitter Cardiovascular phenotype ⚠
  • p.Ile577Leu Single submitter arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Ile577Val Single submitter Cardiovascular phenotype ⚠
  • p.Ile584Val Single submitter cardiomyopathy ⚠
  • p.Ile672Val Single submitter Cardiovascular phenotype ⚠
  • p.Leu294fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Leu48Phe Single submitter Cardiovascular phenotype ⚠
  • p.Leu54= Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Leu732Val Single submitter Cardiovascular phenotype ⚠
  • p.Lys118fs Single submitter Cardiovascular phenotype
  • p.Lys121Asn Single submitter Cardiovascular phenotype ⚠
  • p.Lys281Glu Single submitter Cardiovascular phenotype ⚠
  • p.Lys322Arg Single submitter Cardiovascular phenotype ⚠
  • p.Lys405Ter Single submitter Cardiovascular phenotype
  • p.Lys411Glu Single submitter Cardiovascular phenotype ⚠
  • p.Lys580Glu Single submitter familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Lys749Gln Single submitter Cardiovascular phenotype ⚠
  • p.Met431Val Single submitter arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Met480Val Single submitter cardiomyopathy ⚠
  • p.Met589Lys Single submitter arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Met589Thr Single submitter Cardiovascular phenotype ⚠
  • p.Met899Leu Single submitter Cardiovascular phenotype ⚠
  • p.Phe110Leu Single submitter arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Phe58Val Single submitter Cardiovascular phenotype ⚠
  • p.Phe829fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Pro223= Single submitter familial isolated arrhythmogenic right ventricular dysplasia
  • p.Pro223Ser Single submitter Cardiovascular phenotype ⚠
  • p.Pro289Ser Single submitter Cardiovascular phenotype ⚠
  • p.Pro292Ser Single submitter Cardiovascular phenotype ⚠
  • p.Pro474Leu Single submitter Cardiovascular phenotype ⚠
  • p.Pro599Arg Single submitter familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Pro642= Single submitter familial isolated arrhythmogenic right ventricular dysplasia
  • p.Pro642Ala Single submitter arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Ser143= Single submitter Cardiovascular phenotype
  • p.Ser451Ter Single submitter cardiomyopathy
  • p.Ser504Gly Single submitter cardiomyopathy ⚠
  • p.Ser526Leu Single submitter cardiomyopathy ⚠
  • p.Ser574Asn Single submitter arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Ser614Gly Single submitter Cardiovascular phenotype ⚠
  • p.Ser645fs Single submitter familial isolated arrhythmogenic right ventricular dysplasia
  • p.Ser794Leu Single submitter familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Ser7Phe Single submitter familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Ser824= Single submitter Cardiovascular phenotype
  • p.Ser824Leu Single submitter Cardiovascular phenotype ⚠
  • p.Ser868Phe Single submitter familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Ser89= Single submitter familial isolated arrhythmogenic right ventricular dysplasia
  • p.Ser89Leu Single submitter Cardiovascular phenotype ⚠
  • p.Ser99Thr Single submitter Cardiovascular phenotype ⚠
  • p.Ser99Tyr Single submitter Cardiovascular phenotype ⚠
  • p.Thr216Ala Single submitter cardiomyopathy ⚠
  • p.Thr268Ala Single submitter Cardiovascular phenotype ⚠
  • p.Thr275Met Single submitter Cardiovascular phenotype ⚠
  • p.Thr300Ala Single submitter familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Thr301Ala Single submitter cardiomyopathy ⚠
  • p.Thr305Ile Single submitter Cardiovascular phenotype ⚠
  • p.Thr340Ala Single submitter Cardiovascular phenotype ⚠
  • p.Thr340Asn Single submitter familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Thr358Asn Single submitter Cardiovascular phenotype ⚠
  • p.Thr412fs Single submitter
  • p.Thr59Ile Single submitter Cardiovascular phenotype ⚠
  • p.Thr616Ala Single submitter Cardiovascular phenotype ⚠
  • p.Thr651fs Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Thr713= Single submitter Cardiovascular phenotype
  • p.Thr713Met Single submitter arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Thr721Met Single submitter arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Thr814Met Single submitter Cardiovascular phenotype ⚠
  • p.Trp826Ter Single submitter familial isolated arrhythmogenic right ventricular dysplasia
  • p.Tyr196= Single submitter Cardiovascular phenotype
  • p.Tyr206Cys Single submitter cardiomyopathy ⚠
  • p.Tyr282Ter Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Tyr646_Val647insTer Single submitter arrhythmogenic right ventricular dysplasia 11
  • p.Tyr646Ter Single submitter Cardiovascular phenotype
  • p.Tyr821Ter Single submitter cardiomyopathy
  • p.Val201Ile Single submitter familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Val258Met Single submitter familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Val303Met Single submitter Cardiovascular phenotype ⚠
  • p.Val361Met Single submitter cardiomyopathy ⚠
  • p.Val364Gly Single submitter familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Val486Met Single submitter Cardiovascular phenotype ⚠
  • p.Val518Leu Single submitter Cardiovascular phenotype ⚠
  • p.Val690Leu Single submitter arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Val772Met Single submitter Cardiovascular phenotype ⚠
  • p.Val787Met Single submitter cardiomyopathy ⚠
  • p.Val816Met Single submitter familial isolated arrhythmogenic right ventricular dysplasia ⚠

Benign 44

Benign/Likely benign 31

  • c.1264-5C>T Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • c.2126-20A>T Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.630+19G>A Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.631-13dup Multiple submitters cardiomyopathy
  • c.70-11del Multiple submitters cardiomyopathy
  • c.70-18dup Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • c.70-20G>A Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.70-8dup Multiple submitters Cardiovascular phenotype
  • c.942+13_942+15dup Multiple submitters Cardiovascular phenotype
  • c.943-9dup Multiple submitters cardiomyopathy
  • c.*46A>T Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Ala897fs Multiple submitters Cardiovascular phenotype
  • p.Arg450= Multiple submitters cardiomyopathy
  • p.Asn11_Gly12delinsSerArg Multiple submitters cardiomyopathy
  • p.Asn573= Multiple submitters Cardiovascular phenotype
  • p.Asn736= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Asp879Gly Multiple submitters Cardiovascular phenotype
  • p.Cys872= Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Gln116= Multiple submitters Cardiovascular phenotype
  • p.Gly12Arg Multiple submitters cardiomyopathy
  • p.Gly717= Multiple submitters Cardiovascular phenotype
  • p.Gly790del Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Leu423= Multiple submitters Cardiovascular phenotype
  • p.Phe58= Multiple submitters cardiomyopathy
  • p.Thr117= Multiple submitters Cardiovascular phenotype
  • p.Thr358Ile Multiple submitters Cardiovascular phenotype ⚠
  • p.Thr560= Multiple submitters Cardiovascular phenotype
  • p.Thr673= Multiple submitters Cardiovascular phenotype
  • p.Tyr187= Multiple submitters Cardiovascular phenotype
  • p.Val597Phe Multiple submitters Cardiovascular phenotype
  • c.2509-153_2509-152del No assertion criteria

Likely benign 520

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1077+11G>T Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.1077+15T>C Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.1077+9A>T Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.1520+8C>G Multiple submitters cardiomyopathy
  • c.1521-11A>G Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.1521-14A>G Multiple submitters cardiomyopathy
  • c.1521-43G>A Multiple submitters
  • c.154+9G>A Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.155-15G>A Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.155-17G>T Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.1889-14A>G Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.2126-15dup Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • c.2251-13G>A Multiple submitters cardiomyopathy
  • c.2251-20G>A Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.2509-11C>T Multiple submitters cardiomyopathy
  • c.2509-16T>C Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.2509-18T>C Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.2509-245A>G Multiple submitters
  • c.2509-8C>T Multiple submitters cardiomyopathy
  • c.2509-9C>T Multiple submitters cardiomyopathy
  • c.354+15A>C Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.354+30A>G Multiple submitters
  • c.354+9G>A Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.355-15G>A Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • c.355-9T>C Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • c.474+45C>G Multiple submitters
  • c.475-4C>T Multiple submitters cardiomyopathy
  • c.630+8_630+10delinsTT Multiple submitters
  • c.631-10C>G Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • c.631-135C>T Multiple submitters
  • c.69+103G>C Multiple submitters
  • c.69+9A>G Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.70-7T>G Multiple submitters cardiomyopathy
  • c.70-9A>G Multiple submitters cardiomyopathy
  • c.775+8C>A Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.943-9T>C Multiple submitters cardiomyopathy
  • c.-25C>G Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.-298C>T Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.*137A>G Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Ala4= Multiple submitters Cardiovascular phenotype
  • p.Ala441= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Ala551= Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Ala592= Multiple submitters cardiomyopathy
  • p.Ala627= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Ala753= Multiple submitters Cardiovascular phenotype
  • p.Ala897= Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Arg123= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Arg132= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Arg190= Multiple submitters Cardiovascular phenotype
  • p.Arg531= Multiple submitters cardiomyopathy
  • p.Arg875= Multiple submitters cardiomyopathy
  • p.Asn147= Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Asn239= Multiple submitters cardiomyopathy
  • p.Asn392= Multiple submitters Cardiovascular phenotype
  • p.Asn439= Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Asn53= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Asn546= Multiple submitters cardiomyopathy
  • p.Asn778= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Asp312= Multiple submitters cardiomyopathy
  • p.Asp317= Multiple submitters Cardiovascular phenotype
  • p.Asp347= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Asp370= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Asp380= Multiple submitters cardiomyopathy
  • p.Asp569= Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Asp682= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Asp748= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Asp879= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Cys671= Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Cys677= Multiple submitters cardiomyopathy
  • p.Cys797= Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Gln180= Multiple submitters Cardiovascular phenotype
  • p.Gln326= Multiple submitters Cardiovascular phenotype
  • p.Gln691= Multiple submitters cardiomyopathy
  • p.Gln734= Multiple submitters cardiomyopathy
  • p.Glu114= Multiple submitters cardiomyopathy
  • p.Glu234= Multiple submitters cardiomyopathy
  • p.Glu236= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Glu601= Multiple submitters Cardiovascular phenotype
  • p.Glu877= Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Glu882= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Gly302= Multiple submitters Cardiovascular phenotype
  • p.Gly402= Multiple submitters cardiomyopathy
  • p.Gly436= Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Gly516= Multiple submitters cardiomyopathy
  • p.Gly605= Multiple submitters Cardiovascular phenotype
  • p.Gly686= Multiple submitters cardiomyopathy
  • p.Gly687= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Gly762= Multiple submitters Cardiovascular phenotype
  • p.Gly790= Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Gly8= Multiple submitters cardiomyopathy
  • p.Gly801= Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Gly811= Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Gly812= Multiple submitters Cardiovascular phenotype
  • p.Gly870= Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.His124= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.His604= Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.His791= Multiple submitters Cardiovascular phenotype
  • p.His804= Multiple submitters Cardiovascular phenotype
  • p.His847= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.His849Pro Multiple submitters Cardiovascular phenotype
  • p.Ile211= Multiple submitters Cardiovascular phenotype
  • p.Ile24= Multiple submitters cardiomyopathy
  • p.Ile285= Multiple submitters Cardiovascular phenotype
  • p.Ile520= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Ile527= Multiple submitters Cardiovascular phenotype
  • p.Ile784= Multiple submitters cardiomyopathy
  • p.Ile85= Multiple submitters Cardiovascular phenotype
  • p.Leu120= Multiple submitters Cardiovascular phenotype
  • p.Leu145= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Leu185= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Leu195= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Leu20= Multiple submitters Cardiovascular phenotype
  • p.Leu22= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Leu227= Multiple submitters cardiomyopathy
  • p.Leu229= Multiple submitters Cardiovascular phenotype
  • p.Leu294= Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Leu315= Multiple submitters Cardiovascular phenotype
  • p.Leu335= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Leu43= Multiple submitters cardiomyopathy
  • p.Leu48= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Leu625= Multiple submitters Cardiovascular phenotype
  • p.Leu664= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Leu701= Multiple submitters Cardiovascular phenotype
  • p.Leu706= Multiple submitters cardiomyopathy
  • p.Leu711= Multiple submitters cardiomyopathy
  • p.Leu714= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Leu834= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Lys108= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Lys428= Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Phe112= Multiple submitters Cardiovascular phenotype
  • p.Phe209= Multiple submitters Cardiovascular phenotype
  • p.Phe250= Multiple submitters cardiomyopathy
  • p.Phe576= Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Phe610= Multiple submitters cardiomyopathy
  • p.Pro153= Multiple submitters cardiomyopathy
  • p.Pro290= Multiple submitters Cardiovascular phenotype
  • p.Pro449= Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Ser309= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Ser532= Multiple submitters Cardiovascular phenotype
  • p.Ser659= Multiple submitters cardiomyopathy
  • p.Ser660= Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Ser7= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Ser719= Multiple submitters cardiomyopathy
  • p.Ser752= Multiple submitters cardiomyopathy
  • p.Ser9= Multiple submitters Cardiovascular phenotype
  • p.Thr163= Multiple submitters cardiomyopathy
  • p.Thr21= Multiple submitters Cardiovascular phenotype
  • p.Thr251= Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Thr275= Multiple submitters Cardiovascular phenotype
  • p.Thr278= Multiple submitters cardiomyopathy
  • p.Thr293= Multiple submitters Cardiovascular phenotype
  • p.Thr377= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Thr519= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Thr562= Multiple submitters Cardiovascular phenotype
  • p.Thr678= Multiple submitters cardiomyopathy
  • p.Thr721= Multiple submitters Cardiovascular phenotype
  • p.Thr742= Multiple submitters Cardiovascular phenotype
  • p.Thr771= Multiple submitters Cardiovascular phenotype
  • p.Thr814= Multiple submitters Cardiovascular phenotype
  • p.Thr82= Multiple submitters cardiomyopathy
  • p.Thr856= Multiple submitters Cardiovascular phenotype
  • p.Thr95= Multiple submitters Cardiovascular phenotype
  • p.Tyr248= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Tyr545= Multiple submitters cardiomyopathy
  • p.Tyr646= Multiple submitters Cardiovascular phenotype
  • p.Tyr853= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Tyr857= Multiple submitters Cardiovascular phenotype
  • p.Val325= Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Val35= Multiple submitters Cardiovascular phenotype
  • p.Val378= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Val458= Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Val549= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Val661Ile Multiple submitters cardiomyopathy
  • p.Val79= Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Val838= Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Val865= Multiple submitters cardiomyopathy
  • c.1077+11G>A Single submitter
  • c.1077+233C>T Single submitter
  • c.1077+33A>G Single submitter
  • c.1078-18T>C Single submitter
  • c.1078-4T>A Single submitter familial isolated arrhythmogenic right ventricular dysplasia
  • c.1078-7A>G Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1263+10A>G Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1263+12T>C Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1263+143A>T Single submitter
  • c.1263+14A>T Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1263+197A>T Single submitter
  • c.1263+19A>G Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1263+211A>G Single submitter
  • c.1263+8_1263+10del Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1264-15C>T Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1264-19A>G Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1264-9C>T Single submitter cardiomyopathy
  • c.1520+11T>C Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1520+20A>T Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1521-23_1521-8del Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1521-4A>T Single submitter cardiomyopathy
  • c.154+15A>C Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.154+186T>C Single submitter
  • c.154+198C>T Single submitter
  • c.155-13A>G Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.155-14C>T Single submitter cardiomyopathy
  • c.155-17G>A Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.155-19C>G Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.155-222C>T Single submitter
  • c.1663+9T>C Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1664-10A>G Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1664-19T>C Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1664-23TATTTT[3] Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1664-4C>A Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1888+13G>C Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1888+13G>T Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1888+20G>A Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1888+256_1888+262del Single submitter
  • c.1888+268_1888+274del Single submitter
  • c.1888+51G>A Single submitter
  • c.1888+7A>G Single submitter
  • c.1888+92A>G Single submitter
  • c.1889-10A>G Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1889-20T>G Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.1889-29T>C Single submitter
  • c.1889-36T>C Single submitter
  • c.1889-3C>T Single submitter cardiomyopathy
  • c.2125+10A>T Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2125+11A>G Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2125+16T>A Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2125+189C>T Single submitter
  • c.2125+190G>A Single submitter
  • c.2125+8T>C Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2125+9T>G Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2126-11_2126-8del Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2126-20A>C Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2126-239G>T Single submitter
  • c.2126-4C>A Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2126-6C>T Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2250+12G>A Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2250+13G>C Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2250+14C>T Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2251-19C>T Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2251-27C>A Single submitter
  • c.2251-4T>C Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2251-5T>C Single submitter familial isolated arrhythmogenic right ventricular dysplasia
  • c.2508+12T>G Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2508+15G>A Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2508+16T>A Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2508+17G>A Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2508+19C>A Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2508+207A>T Single submitter
  • c.2508+20C>T Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2508+305G>T Single submitter
  • c.2508+309C>T Single submitter
  • c.2509-108A>T Single submitter cardiomyopathy
  • c.2509-118A>G Single submitter
  • c.2509-120G>A Single submitter cardiomyopathy
  • c.2509-140_2509-139dup Single submitter
  • c.2509-15T>A Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2509-19G>A Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2509-20_2509-18del Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2509-20del Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2509-4G>A Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.2509-95C>T Single submitter cardiomyopathy
  • c.354+10G>C Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.354+11C>G Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.354+12T>A Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.354+14C>T Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.354+16T>C Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.354+265dup Single submitter
  • c.354+274del Single submitter
  • c.354+7A>T Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.354+9G>C Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.355-10A>G Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.355-12T>C Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.355-18C>T Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.474+302A>G Single submitter
  • c.474+4C>A Single submitter cardiomyopathy
  • c.474+9T>C Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.475-200C>T Single submitter
  • c.630+10A>G Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.630+12A>G Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.630+15G>A Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.630+15G>C Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.630+19G>T Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.630+240_630+251del Single submitter
  • c.630+256_630+258dup Single submitter
  • c.630+8C>A Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.630+8C>T Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.631-10C>T Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.631-12C>T Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.631-14T>A Single submitter familial isolated arrhythmogenic right ventricular dysplasia
  • c.631-16T>G Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.631-18A>G Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.631-4A>C Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.69+12C>A Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.69+14C>G Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.69+15G>C Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.69+18C>T Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.69+356GGGAGTGCGCCGGGGC[4] Single submitter
  • c.69+7G>A Single submitter arrhythmogenic right ventricular dysplasia 11
  • c.69+83dup Single submitter
  • c.69+8T>C Single submitter arrhythmogenic right ventricular dysplasia 11

Uncertain significance 1081

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1077+2T>G Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • c.1520+4C>T Multiple submitters cardiomyopathy
  • c.1520+6T>C Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • c.2251-3C>T Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • c.2508+1G>A Multiple submitters Cardiovascular phenotype
  • c.2509-111_2509-110del Multiple submitters Cardiovascular phenotype
  • c.355-3G>T Multiple submitters Cardiovascular phenotype
  • c.775+6T>C Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.942+3A>G Multiple submitters cardiomyopathy
  • c.942+6A>G Multiple submitters cardiomyopathy
  • c.-113C>A Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.-408T>C Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.*1927T>C Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • c.*422C>T Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Ala138Ser Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Ala13Val Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Ala213Val Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Ala23Val Multiple submitters cardiomyopathy ⚠
  • p.Ala267Pro Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Ala391Asp Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala441Thr Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Ala447Thr Multiple submitters cardiomyopathy ⚠
  • p.Ala4Val Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Ala551Thr Multiple submitters cardiomyopathy ⚠
  • p.Ala596Thr Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Ala61Glu Multiple submitters cardiomyopathy ⚠
  • p.Ala61Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala699Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala718Ser Multiple submitters cardiomyopathy ⚠
  • p.Ala733Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala744Val Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Ala753Val Multiple submitters cardiomyopathy ⚠
  • p.Ala763Val Multiple submitters cardiomyopathy ⚠
  • p.Ala850fs Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Ala866Gly Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Ala866Val Multiple submitters cardiomyopathy ⚠
  • p.Ala895Gly Multiple submitters cardiomyopathy ⚠
  • p.Ala895Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg132Cys Multiple submitters Sudden unexplained death ⚠
  • p.Arg16Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg16Trp Multiple submitters cardiomyopathy ⚠
  • p.Arg183Gln Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Arg203His Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Arg257Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg279His Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Arg279Leu Multiple submitters cardiomyopathy ⚠
  • p.Arg313Lys Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Arg357Cys Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg357Leu Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Arg375Gln Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Arg375Gly Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Arg450Ser Multiple submitters cardiomyopathy ⚠
  • p.Arg501Lys Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Arg531Gly Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Arg531Ser Multiple submitters cardiomyopathy ⚠
  • p.Arg5Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg621Ile Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Arg680Cys Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Arg680Ser Multiple submitters cardiomyopathy ⚠
  • p.Arg798Trp Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Arg820= Multiple submitters cardiomyopathy
  • p.Arg833Gly Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Arg875Ter Multiple submitters Cardiovascular phenotype
  • p.Arg901Gly Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Arg92Ile Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg92Lys Multiple submitters Cardiovascular phenotype ⚠
  • p.Asn103Lys Multiple submitters Cardiovascular phenotype ⚠
  • p.Asn239Asp Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Asn413Ile Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Asn413Lys Multiple submitters Cardiovascular phenotype ⚠
  • p.Asn413Ser Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Asn483Ile Multiple submitters cardiomyopathy ⚠
  • p.Asn491Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Asn53Ile Multiple submitters Cardiovascular phenotype ⚠
  • p.Asn546del Multiple submitters Cardiovascular phenotype
  • p.Asn571Ser Multiple submitters cardiomyopathy ⚠
  • p.Asn573Asp Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Asn62Lys Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Asn639Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Asn736Asp Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Asn818Asp Multiple submitters cardiomyopathy ⚠
  • p.Asn83Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Asp179Glu Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Asp179Gly Multiple submitters cardiomyopathy ⚠
  • p.Asp219Val Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Asp238del Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Asp238Gly Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
  • p.Asp271Glu Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Asp271Val Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Asp317Asn Multiple submitters cardiomyopathy ⚠
  • p.Asp329Asn Multiple submitters cardiomyopathy ⚠
  • p.Asp347Tyr Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Asp350Tyr Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Asp380Asn Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Asp380Tyr Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Asp382Val Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Asp44Gly Multiple submitters cardiomyopathy ⚠
  • p.Asp466His Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Asp497Val Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Asp513Tyr Multiple submitters Cardiovascular phenotype ⚠
  • p.Asp534Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Asp572Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Asp609Val Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Asp654Asn Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Asp665Gly Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Asp747Glu Multiple submitters Cardiovascular phenotype ⚠
  • p.Asp807His Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Cys142Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Cys142Tyr Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Cys671Ser Multiple submitters Cardiovascular phenotype
  • p.Cys671Tyr Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Cys716Phe Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Cys716Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Cys819Tyr Multiple submitters Cardiovascular phenotype ⚠
  • p.Cys898Arg Multiple submitters cardiomyopathy ⚠
  • p.Cys898Phe Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Cys898Ter Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Gln116Glu Multiple submitters Cardiovascular phenotype ⚠
  • p.Gln160Lys Multiple submitters Cardiovascular phenotype ⚠
  • p.Gln287Arg Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Gln310Arg Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Gln320fs Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Gln320Pro Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Gln326Pro Multiple submitters Cardiovascular phenotype ⚠
  • p.Gln331His Multiple submitters cardiomyopathy ⚠
  • p.Gln430His Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Gln476Pro Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Gln554Arg Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Gln72His Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Gln759Pro Multiple submitters Cardiovascular phenotype ⚠
  • p.Gln781Arg Multiple submitters cardiomyopathy ⚠
  • p.Gln792Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Gln831Ter Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Gln876Glu Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Gln876Leu Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Glu146Gly Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Glu207Gln Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Glu245Gly Multiple submitters cardiomyopathy ⚠
  • p.Glu246Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu314= Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Glu365Asp Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Glu426Lys Multiple submitters cardiomyopathy ⚠
  • p.Glu427Asp Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu427Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu463del Multiple submitters arrhythmogenic right ventricular dysplasia 11
  • p.Glu467Gln Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Glu674Lys Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Glu743Asp Multiple submitters cardiomyopathy ⚠
  • p.Glu782Lys Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu785Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu785Lys Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu795Lys Multiple submitters cardiomyopathy ⚠
  • p.Glu815Gly Multiple submitters cardiomyopathy ⚠
  • p.Glu882Lys Multiple submitters cardiomyopathy ⚠
  • p.Gly12_Ala13insGly Multiple submitters cardiomyopathy
  • p.Gly150Cys Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Gly177Arg Multiple submitters cardiomyopathy ⚠
  • p.Gly193_Ser208del Multiple submitters Cardiovascular phenotype
  • p.Gly220Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly259Asp Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Gly398Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly402Cys Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly402Val Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Gly436Ala Multiple submitters cardiomyopathy ⚠
  • p.Gly436Val Multiple submitters cardiomyopathy ⚠
  • p.Gly468Asp Multiple submitters cardiomyopathy ⚠
  • p.Gly468Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly492Ala Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Gly492Glu Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Gly505Asp Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Gly543Ser Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Gly555Arg Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Gly555Glu Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly605Asp Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Gly644Val Multiple submitters cardiomyopathy ⚠
  • p.Gly687Arg Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Gly693Val Multiple submitters cardiomyopathy ⚠
  • p.Gly717Arg Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Gly746Glu Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly755Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly767Glu Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Gly773Ala Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly77Asp Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly77Val Multiple submitters cardiomyopathy ⚠
  • p.Gly789Glu Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Gly790Arg Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Gly790Glu Multiple submitters cardiomyopathy ⚠
  • p.Gly801Asp Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Gly863fs Multiple submitters Cardiovascular phenotype
  • p.Gly863Glu Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly870Cys Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Gly880Arg Multiple submitters cardiomyopathy ⚠
  • p.Gly880Glu Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.His277Tyr Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.His298Asn Multiple submitters cardiomyopathy ⚠
  • p.His298Leu Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.His65Asp Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.His679Arg Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.His803Arg Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.His804Gln Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.His849Tyr Multiple submitters cardiomyopathy ⚠
  • p.Ile109Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Ile169Thr Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Ile173Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Ile173Val Multiple submitters cardiomyopathy ⚠
  • p.Ile233Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ile24Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ile26Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Ile316Phe Multiple submitters cardiomyopathy ⚠
  • p.Ile316Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ile345Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ile345Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ile395Thr Multiple submitters cardiomyopathy ⚠
  • p.Ile527Val Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Ile544Thr Multiple submitters cardiomyopathy ⚠
  • p.Ile565Phe Multiple submitters cardiomyopathy ⚠
  • p.Ile565Ser Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Ile566Thr Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Ile577Met Multiple submitters cardiomyopathy ⚠
  • p.Ile577Thr Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Ile583Val Multiple submitters cardiomyopathy ⚠
  • p.Ile584Phe Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Ile594Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ile594Val Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Ile776Met Multiple submitters cardiomyopathy ⚠
  • p.Ile96Leu Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Ile96Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu156Phe Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Leu18Arg Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Leu18Phe Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Leu195Phe Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Leu195Ser Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Leu294Ile Multiple submitters cardiomyopathy ⚠
  • p.Leu352Met Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Leu701Phe Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Leu87Ser Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Leu881His Multiple submitters Cardiovascular phenotype ⚠
  • p.Lys106Arg Multiple submitters cardiomyopathy ⚠
  • p.Lys107Arg Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Lys107Asn Multiple submitters Cardiovascular phenotype ⚠
  • p.Lys126Asn Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Lys134Thr Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Lys405Asn Multiple submitters cardiomyopathy ⚠
  • p.Lys579Glu Multiple submitters cardiomyopathy ⚠
  • p.Lys694Asn Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Lys788Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Met144Thr Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Met1Val Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Met276Val Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Met431Thr Multiple submitters cardiomyopathy ⚠
  • p.Met453Thr Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Met480Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Met786Thr Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Phe250Val Multiple submitters cardiomyopathy ⚠
  • p.Phe530Leu Multiple submitters cardiomyopathy ⚠
  • p.Phe608Tyr Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Phe610Leu Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Phe71Val Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Pro139Leu Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Pro151Thr Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Pro226Leu Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Pro226Ser Multiple submitters cardiomyopathy ⚠
  • p.Pro241Ser Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Pro273Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Pro353Ala Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Pro353Thr Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Pro40Thr Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Pro442Ser Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Pro449Ala Multiple submitters cardiomyopathy ⚠
  • p.Pro473Leu Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Pro578Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Pro587Leu Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Pro599Ala Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Pro607Leu Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Pro607Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Pro683Thr Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Pro69Ser Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Pro6Leu Multiple submitters cardiomyopathy ⚠
  • p.Pro729Thr Multiple submitters cardiomyopathy ⚠
  • p.Ser143Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Ser148Cys Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Ser291Leu Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Ser448Asn Multiple submitters cardiomyopathy ⚠
  • p.Ser451Leu Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Ser490Asn Multiple submitters cardiomyopathy ⚠
  • p.Ser502Arg Multiple submitters cardiomyopathy ⚠
  • p.Ser526Ala Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Ser532Asn Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Ser615Tyr Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Ser636Ala Multiple submitters Cardiovascular phenotype ⚠
  • p.Ser636Cys Multiple submitters Cardiovascular phenotype ⚠
  • p.Ser636Phe Multiple submitters Cardiovascular phenotype ⚠
  • p.Ser645Leu Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Ser663Ala Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Ser67Asn Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Ser740Pro Multiple submitters cardiomyopathy ⚠
  • p.Ser752Phe Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Ser824Ala Multiple submitters arrhythmogenic right ventricular dysplasia 11 ⚠
  • p.Ser828Arg Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia ⚠
  • p.Ser864Leu Multiple submitters Cardiovascular phenotype ⚠