Sugi Variant

Sugi Variant/PKP2

PKP2 — 2232 ClinVar variants

All ClinVar germline PKP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1017 flagged for review →

184 Pathogenic · 62 Pathogenic/Likely pathogenic · 82 Likely pathogenic · 208 Conflicting · 48 Benign · 36 Benign/Likely benign · 555 Likely benign · 1057 Uncertain significance

Full PKP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1017

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 126

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

Predicted LoF vs a conflicting call 5

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 711

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 711

Predictors split 173

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 173

All PKP2 variants

Pathogenic 184

  • c.1170+1G>C Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.1379-2A>G Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.1557-2A>G Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.2013+1G>A Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.2014-1G>C Multiple submitters PKP2-related disorder
  • c.2357+1G>A Multiple submitters PKP2-related disorder
  • p.Arg413Ter Multiple submitters PKP2-related disorder
  • p.Arg591fs Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Arg607Ter Multiple submitters Cardiovascular phenotype
  • p.Arg691Ter Multiple submitters PKP2-related disorder
  • p.Arg79Ter Multiple submitters PKP2-related disorder
  • p.Asn590fs Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Asn74fs Multiple submitters Cardiovascular phenotype
  • p.Asn765fs Multiple submitters Cardiovascular phenotype
  • p.Asp556fs Multiple submitters Cardiovascular phenotype
  • p.Asp557fs Multiple submitters Cardiovascular phenotype
  • p.Asp596fs Multiple submitters Cardiovascular phenotype
  • p.Cys752fs Multiple submitters cardiomyopathy
  • p.Gln133Ter Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Gln220Ter Multiple submitters cardiomyopathy
  • p.Gln270Ter Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Gln378Ter Multiple submitters PKP2-related disorder
  • p.Gln383Ter Multiple submitters
  • p.Gln444Ter Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Gln594Ter Multiple submitters PKP2-related disorder
  • p.Gln59Ter Multiple submitters Cardiovascular phenotype
  • p.Gln616Ter Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Gln655Ter Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Gln682Ter Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Gln688Ter Multiple submitters cardiomyopathy
  • p.Glu259fs Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Glu259Ter Multiple submitters cardiomyopathy
  • p.Glu335Ter Multiple submitters Cardiovascular phenotype
  • p.Glu58Ter Multiple submitters Cardiovascular phenotype
  • p.Glu85Ter Multiple submitters Cardiovascular phenotype
  • p.Gly23fs Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Gly322fs Multiple submitters Cardiovascular phenotype
  • p.Gly504fs Multiple submitters PKP2-related disorder
  • p.Leu422fs Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Leu665fs Multiple submitters Cardiovascular phenotype
  • p.Leu718fs Multiple submitters cardiomyopathy
  • p.Leu92Ter Multiple submitters Cardiovascular phenotype
  • p.Lys470fs Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Lys683Ter Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Phe511fs Multiple submitters Cardiovascular phenotype
  • p.Pro105fs Multiple submitters PKP2-related disorder
  • p.Pro500fs Multiple submitters Cardiovascular phenotype
  • p.Ser467fs Multiple submitters Cardiovascular phenotype
  • p.Thr208fs Multiple submitters Cardiovascular phenotype
  • p.Thr482_Leu483insTer Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Thr50fs Multiple submitters PKP2-related disorder
  • p.Thr737fs Multiple submitters Cardiovascular phenotype
  • p.Trp123Ter Multiple submitters Cardiovascular phenotype
  • p.Trp494Ter Multiple submitters Cardiovascular phenotype
  • p.Trp632Ter Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Tyr119Ter Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Tyr130Ter Multiple submitters Cardiovascular phenotype
  • p.Tyr642Ter Multiple submitters Cardiovascular phenotype
  • p.Tyr763Ter Multiple submitters cardiomyopathy
  • p.Tyr86fs Multiple submitters cardiomyopathy
  • p.Tyr86Ter Multiple submitters Cardiovascular phenotype
  • p.Val202fs Multiple submitters Cardiovascular phenotype
  • p.Val406fs Multiple submitters Cardiovascular phenotype
  • c.1170+1G>T Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1217_1379-790inv Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1379-1_1556+1del Single submitter cardiomyopathy
  • c.1379-1992C>T Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1379-1G>A Single submitter
  • c.1379-2073_1379-2033del Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.2013+2T>C Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.2014-1_2014del Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.2146-?_2489+?del Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.2167+1G>C Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.2168-11_2169del Single submitter
  • c.224_1034del Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.2357+4A>C Single submitter
  • c.2446-1G>A Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.336+1G>T Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Ala325fs Single submitter Cardiovascular phenotype
  • p.Ala326fs Single submitter
  • p.Ala41fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Ala479fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Ala667fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Arg101fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Arg158fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Arg210fs Single submitter Cardiovascular phenotype
  • p.Arg287fs Single submitter arrhythmogenic right ventricular cardiomyopathy
  • p.Arg299fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Arg336fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Arg519Ter Single submitter
  • p.Arg533fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Asn237fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Asn254fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Asn585fs Single submitter arrhythmogenic right ventricular cardiomyopathy
  • p.Asn761fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Asn76fs Single submitter cardiomyopathy
  • p.Asp363fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Asp498fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Cys416Ter Single submitter
  • p.Gln167Ter Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Gln173Ter Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Gln211Ter Single submitter
  • p.Gln24Ter Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Gln278Ter Single submitter Cardiovascular phenotype
  • p.Gln292Ter Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Gln323fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Gln402Ter Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Gln407Ter Single submitter Cardiovascular phenotype
  • p.Gln457fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Gln457Ter Single submitter cardiomyopathy
  • p.Gln584Ter Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Gln59fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Glu182fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Glu35Ter Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Glu561Ter Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Glu580Ter Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Glu623Ter Single submitter arrhythmogenic right ventricular cardiomyopathy
  • p.Glu725fs Single submitter
  • p.Glu9fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Gly124fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Gly23Ter Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Gly460Arg Single submitter ⚠
  • p.Gly774fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.His218fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.His568fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.His635fs Single submitter arrhythmogenic right ventricular cardiomyopathy
  • p.His689_Thr690del Single submitter PKP2-related disorder
  • p.His689Asp Single submitter PKP2-related disorder ⚠
  • p.His689fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.His91_Leu92insTer Single submitter arrhythmogenic right ventricular cardiomyopathy
  • p.His91delinsGlyCysArgTer Single submitter Cardiovascular phenotype
  • p.Ile377fs Single submitter cardiomyopathy
  • p.Ile489fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Ile566fs Single submitter cardiomyopathy
  • p.Ile586fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Ile759fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Leu401fs Single submitter
  • p.Leu442delinsArgTrpLeuAsnTer Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Leu452Ter Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Leu474fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Leu480fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Leu542fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Leu803fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Leu90fs Single submitter PKP2-related disorder
  • p.Lys37fs Single submitter familial isolated arrhythmogenic right ventricular dysplasia
  • p.Lys456fs Single submitter arrhythmogenic right ventricular cardiomyopathy
  • p.Lys558fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Lys558Ter Single submitter
  • p.Lys581fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Met110fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Met1Leu Single submitter
  • p.Phe376fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Pro103fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Pro306fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Pro84fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Ser151fs Single submitter Cardiovascular phenotype
  • p.Ser155fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Ser225fs Single submitter
  • p.Ser227fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Ser294fs Single submitter cardiomyopathy
  • p.Ser371fs Single submitter
  • p.Ser541Ter Single submitter cardiomyopathy
  • p.Ser571Phe Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Ser802fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Ser81fs Single submitter
  • p.Thr127fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Thr320fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Thr654Ter Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Trp290Ter Single submitter
  • p.Trp634Ter Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Tyr168_Ser169delinsTer Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Tyr194Ter Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Tyr545Ter Single submitter
  • p.Tyr572Ter Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Tyr615fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Tyr753Ter Single submitter Sudden unexplained death
  • p.Tyr787fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Val271fs Single submitter Cardiovascular phenotype
  • p.Val275fs Single submitter cardiomyopathy
  • p.Val308fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Val51fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Val543fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Val650fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1379-1G>C No assertion criteria cardiomyopathy

Pathogenic/Likely pathogenic 62

  • c.1170+1G>A Multiple submitters Cardiovascular phenotype
  • c.1170+2T>A Multiple submitters Cardiovascular phenotype
  • c.1171-2A>G Multiple submitters PKP2-related disorder
  • c.1378+1G>A Multiple submitters PKP2-related disorder
  • c.1378+1G>C Multiple submitters Cardiovascular phenotype
  • c.1378+2T>A Multiple submitters Cardiovascular phenotype
  • c.1379-2A>T Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.1556+1G>A Multiple submitters Cardiovascular phenotype
  • c.1557-1G>C Multiple submitters Cardiovascular phenotype
  • c.2167+1G>A Multiple submitters Cardiovascular phenotype
  • c.2168-1G>A Multiple submitters PKP2-related disorder
  • c.224-1639_274del Multiple submitters Cardiovascular phenotype
  • c.2357+1G>T Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.2437_2445+41del Multiple submitters Cardiovascular phenotype
  • c.337-2A>T Multiple submitters Cardiovascular phenotype
  • p.Ala418fs Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Ala657fs Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Ala796fs Multiple submitters Cardiovascular phenotype
  • p.Arg355Ter Multiple submitters PKP2-related disorder
  • p.Arg388Trp Multiple submitters PKP2-related disorder
  • p.Asn715fs Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Asn771fs Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Cys603fs Multiple submitters Cardiovascular phenotype
  • p.Cys752Arg Multiple submitters Cardiovascular phenotype
  • p.Gln129Ter Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Gln393Ter Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Gln412Ter Multiple submitters cardiomyopathy
  • p.Gln49fs Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Gln573Ter Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Gln663Ter Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Glu137fs Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Glu380Ter Multiple submitters Cardiovascular phenotype
  • p.Glu808fs Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Glu85fs Multiple submitters Cardiovascular phenotype
  • p.Gly560Trpfs Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.His179fs Multiple submitters Cardiovascular phenotype
  • p.His695fs Multiple submitters PKP2-related disorder
  • p.Leu436fs Multiple submitters cardiomyopathy
  • p.Leu570fs Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Leu64fs Multiple submitters Cardiovascular phenotype
  • p.Leu727fs Multiple submitters Cardiovascular phenotype
  • p.Lys258Ter Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Lys456_Gln457insTer Multiple submitters Cardiovascular phenotype
  • p.Lys612Ter Multiple submitters Cardiovascular phenotype
  • p.Lys67fs Multiple submitters familial isolated arrhythmogenic right ventricular dysplasia
  • p.Lys703fs Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Met1Val Multiple submitters Cardiovascular phenotype
  • p.Pro735fs Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Ser329fs Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Ser492fs Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Ser608fs Multiple submitters Cardiovascular phenotype
  • p.Ser750fs Multiple submitters
  • p.Ser793fs Multiple submitters Cardiovascular phenotype
  • p.Thr515fs Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Thr679fs Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Trp463Ter Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Tyr221Ter Multiple submitters Cardiovascular phenotype
  • p.Tyr582Ter Multiple submitters Cardiovascular phenotype
  • p.Tyr787Ter Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Val280fs Multiple submitters Cardiovascular phenotype
  • p.Val321fs Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Val564fs Multiple submitters Cardiovascular phenotype

Likely pathogenic 82

  • c.1034+1G>A Multiple submitters Cardiovascular phenotype
  • c.1034+1G>C Multiple submitters Cardiovascular phenotype
  • c.1034+1G>T Multiple submitters cardiomyopathy
  • c.1035-2A>G Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Gly460Ser Multiple submitters arrhythmogenic right ventricular dysplasia 9 ⚠
  • p.Gly602Ter Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Met1Thr Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Ser53fs Multiple submitters PKP2-related disorder
  • p.Thr248fs Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Val798fs Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • c.1034+1del Single submitter arrhythmogenic right ventricular cardiomyopathy
  • c.1035-1G>A Single submitter arrhythmogenic right ventricular cardiomyopathy
  • c.(1170+1_1171-1 Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1170+2T>C Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1171-1_1556+1del Single submitter cardiomyopathy
  • c.1379del Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1556+2T>C Single submitter
  • c.(1674+1_1675-1 Single submitter Cardiovascular phenotype
  • c.1675-2A>G Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.(?_1689 Single submitter arrhythmogenic right ventricular cardiomyopathy
  • c.1840-1G>C Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.2161_2167+1008del Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.2167+1G>T Single submitter Cardiovascular phenotype
  • c.224-1G>A Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.2358-1_2358delinsTT Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.2358-2A>G Single submitter arrhythmogenic right ventricular dysplasia 1
  • c.336+1G>A Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.923_1034+262del Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Ala113fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Ala205fs Single submitter
  • p.Ala309fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Ala434_Glu435insTer Single submitter arrhythmogenic right ventricular cardiomyopathy
  • p.Ala434fs Single submitter cardiomyopathy
  • p.Ala526fs Single submitter arrhythmogenic right ventricular cardiomyopathy
  • p.Ala65fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Arg529fs Single submitter arrhythmogenic right ventricular cardiomyopathy
  • p.Arg547fs Single submitter PKP2-related disorder
  • p.Asn283fs Single submitter PKP2-related disorder
  • p.Asn464fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Asn513del Single submitter
  • p.Asp109fs Single submitter
  • p.Asp153fs Single submitter PKP2-related disorder
  • p.Gln343Ter Single submitter
  • p.Gln49Ter Single submitter
  • p.Gln573His Single submitter arrhythmogenic right ventricular dysplasia 9 ⚠
  • p.Gln61Ter Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Gln719fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Gln764Ter Single submitter
  • p.Glu198Ter Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Glu35fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Glu380fs Single submitter
  • p.Glu575Ter Single submitter
  • p.Gly5fs Single submitter arrhythmogenic right ventricular cardiomyopathy
  • p.Gly75Ter Single submitter cardiomyopathy
  • p.His213fs Single submitter cardiomyopathy
  • p.His318fs Single submitter cardiomyopathy
  • p.Leu145fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Leu353fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Leu431Ter Single submitter
  • p.Leu461fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Leu567Arg Single submitter
  • p.Leu744fs Single submitter hypertrophic cardiomyopathy
  • p.Lys430Ter Single submitter PKP2-related disorder
  • p.Lys628fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Lys794fs Single submitter PKP2-related disorder
  • p.Met1Lys Single submitter Cardiovascular phenotype
  • p.Pro7fs Single submitter arrhythmogenic right ventricular cardiomyopathy
  • p.Ser209fs Single submitter Cardiovascular phenotype
  • p.Ser313fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Ser368fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Ser782fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Ser797Phe Single submitter ⚠
  • p.Thr267fs Single submitter PKP2-related disorder
  • p.Thr807fs Single submitter arrhythmogenic right ventricular cardiomyopathy
  • p.Trp804Ter Single submitter
  • p.Tyr166fs Single submitter arrhythmogenic right ventricular dysplasia 9
  • p.Tyr553fs Single submitter arrhythmogenic right ventricular cardiomyopathy
  • p.Tyr587fs Single submitter
  • p.Tyr763fs Single submitter Cardiovascular phenotype
  • p.Val357fs Single submitter Left ventricular noncompaction cardiomyopathy
  • p.Val676fs Single submitter PKP2-related disorder
  • p.Ile733fs No assertion criteria arrhythmogenic right ventricular dysplasia 9

Conflicting classifications of pathogenicity 208

Benign 48

Benign/Likely benign 36

  • c.1034+10C>T Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.1171-11T>C Multiple submitters Cardiovascular phenotype
  • c.1171-17A>G Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.1379-18A>G Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.1379-2068C>T Multiple submitters cardiomyopathy
  • c.1556+9A>G Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.1557-15dup Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • c.1557-8dup Multiple submitters cardiomyopathy
  • c.2168-11del Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.2168-11dup Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.2168-19T>A Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.2168-4G>C Multiple submitters Cardiovascular phenotype
  • c.2168-6T>C Multiple submitters cardiomyopathy
  • c.2357+12_2357+13insC Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.2357+13del Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Ala236Ser Multiple submitters Cardiovascular phenotype
  • p.Ala264Val Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Ala309= Multiple submitters cardiomyopathy
  • p.Ala317= Multiple submitters cardiomyopathy
  • p.Ala502Thr Multiple submitters Cardiovascular phenotype
  • p.Asn503= Multiple submitters Cardiovascular phenotype
  • p.Asn513= Multiple submitters Cardiovascular phenotype
  • p.Asp26Asn Multiple submitters cardiomyopathy
  • p.Asp410= Multiple submitters cardiomyopathy
  • p.Asp785Asn Multiple submitters dilated cardiomyopathy 1A
  • p.Glu58Asp Multiple submitters Cardiovascular phenotype
  • p.His379= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Ile487Ser Multiple submitters Cardiovascular phenotype
  • p.Lys52= Multiple submitters Cardiovascular phenotype
  • p.Pro621= Multiple submitters Cardiovascular phenotype
  • p.Ser313= Multiple submitters cardiomyopathy
  • p.Ser70Ile Multiple submitters Cardiovascular phenotype
  • p.Thr15= Multiple submitters Cardiovascular phenotype
  • p.Thr338Ala Multiple submitters Cardiovascular phenotype
  • p.Thr690= Multiple submitters Cardiovascular phenotype
  • p.Val136Met Multiple submitters Cardiovascular phenotype

Likely benign 555

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

  • c.1035-13C>T Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.1035-197C>A Multiple submitters
  • c.1035-4C>T Multiple submitters Cardiovascular phenotype
  • c.1035-8_1035-5del Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.1035-9T>C Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • c.1171-13G>A Multiple submitters cardiomyopathy
  • c.1171-19G>A Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.1171-3C>T Multiple submitters cardiomyopathy
  • c.1378+152G>T Multiple submitters
  • c.1378+18T>C Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.1379-11_1379-10del Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.1379-15T>C Multiple submitters cardiomyopathy
  • c.1379-1966del Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.1379-2002A>G Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • c.1379-2011G>A Multiple submitters Cardiovascular phenotype
  • c.1379-2011G>C Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • c.1379-2023C>T Multiple submitters Cardiovascular phenotype
  • c.1379-2044C>T Multiple submitters cardiomyopathy
  • c.1379-2056C>T Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • c.1379-2062G>A Multiple submitters cardiomyopathy
  • c.1379-2065G>A Multiple submitters Cardiovascular phenotype
  • c.1379-2068_1379-2066delinsTGT Multiple submitters Cardiovascular phenotype
  • c.1379-2071G>A Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.1379-2101A>G Multiple submitters Cardiovascular phenotype
  • c.1379-2112A>G Multiple submitters cardiomyopathy
  • c.1379-2119C>A Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • c.1556+10C>T Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.1556+7C>T Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.1557-16_1557-15del Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • c.1557-9T>C Multiple submitters cardiomyopathy
  • c.1674+13A>C Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.1674+15A>C Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.1675-19T>G Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.1840-10G>C Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • c.1840-13T>C Multiple submitters cardiomyopathy
  • c.1840-60G>A Multiple submitters
  • c.1840-7T>C Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • c.2014-16A>G Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.2014-7A>G Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • c.2168-16T>G Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.2168-4G>T Multiple submitters Cardiovascular phenotype
  • c.2168-5T>C Multiple submitters cardiomyopathy
  • c.223+12C>T Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.223+142A>C Multiple submitters
  • c.223+18C>T Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.223+235T>A Multiple submitters
  • c.224-10T>C Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • c.224-11C>A Multiple submitters cardiomyopathy
  • c.224-14T>C Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.224-18A>G Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.224-18A>T Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.224-4G>A Multiple submitters cardiomyopathy
  • c.224-9T>C Multiple submitters cardiomyopathy
  • c.2358-15T>C Multiple submitters cardiomyopathy
  • c.2445+17G>A Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.2445+9A>G Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.2446-4A>G Multiple submitters cardiomyopathy
  • c.2446-9A>T Multiple submitters cardiomyopathy
  • c.336+20A>G Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.*202C>T Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • c.*281A>G Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Ala186= Multiple submitters Cardiovascular phenotype
  • p.Ala239= Multiple submitters Cardiovascular phenotype
  • p.Ala304= Multiple submitters cardiomyopathy
  • p.Ala324= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Ala325= Multiple submitters cardiomyopathy
  • p.Ala326= Multiple submitters Cardiovascular phenotype
  • p.Ala362= Multiple submitters Cardiovascular phenotype
  • p.Ala41= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Ala531= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Ala783= Multiple submitters Cardiovascular phenotype
  • p.Ala796= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Ala805= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Ala829= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Arg158= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Arg219= Multiple submitters Cardiovascular phenotype
  • p.Arg250= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Arg388= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Arg651= Multiple submitters cardiomyopathy
  • p.Arg66= Multiple submitters Cardiovascular phenotype
  • p.Arg767= Multiple submitters Cardiovascular phenotype
  • p.Asn283= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Asn421= Multiple submitters cardiomyopathy
  • p.Asn473= Multiple submitters cardiomyopathy
  • p.Asn598= Multiple submitters Cardiovascular phenotype
  • p.Asn626= Multiple submitters Cardiovascular phenotype
  • p.Asp232= Multiple submitters Cardiovascular phenotype
  • p.Asp536= Multiple submitters Cardiovascular phenotype
  • p.Asp617= Multiple submitters Cardiovascular phenotype
  • p.Cys603= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Gln173= Multiple submitters cardiomyopathy
  • p.Gln343= Multiple submitters Cardiovascular phenotype
  • p.Gln402= Multiple submitters cardiomyopathy
  • p.Gln616= Multiple submitters Cardiovascular phenotype
  • p.Gln655= Multiple submitters Cardiovascular phenotype
  • p.Gln682= Multiple submitters Cardiovascular phenotype
  • p.Glu120= Multiple submitters cardiomyopathy
  • p.Glu137= Multiple submitters Cardiovascular phenotype
  • p.Glu257= Multiple submitters cardiomyopathy
  • p.Glu303= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Glu35= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Glu453= Multiple submitters Cardiovascular phenotype
  • p.Glu58= Multiple submitters Cardiovascular phenotype
  • p.Glu631= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Gly224= Multiple submitters Cardiovascular phenotype
  • p.Gly23= Multiple submitters Cardiovascular phenotype
  • p.Gly305= Multiple submitters Cardiovascular phenotype
  • p.Gly322Cys Multiple submitters Cardiovascular phenotype
  • p.Gly330= Multiple submitters cardiomyopathy
  • p.Gly345= Multiple submitters Cardiovascular phenotype
  • p.Gly5= Multiple submitters Cardiovascular phenotype
  • p.Gly516= Multiple submitters cardiomyopathy
  • p.Gly525= Multiple submitters Cardiovascular phenotype
  • p.His176= Multiple submitters Cardiovascular phenotype
  • p.His296= Multiple submitters Cardiovascular phenotype
  • p.His318= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.His318Pro Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.His689= Multiple submitters Cardiovascular phenotype
  • p.His78= Multiple submitters Cardiovascular phenotype
  • p.His806= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.His91= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Ile199= Multiple submitters cardiomyopathy
  • p.Ile586= Multiple submitters Cardiovascular phenotype
  • p.Ile593= Multiple submitters Cardiovascular phenotype
  • p.Ile745= Multiple submitters Cardiovascular phenotype
  • p.Leu17= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Leu189= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Leu262= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Leu274= Multiple submitters Cardiovascular phenotype
  • p.Leu301= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Leu332= Multiple submitters cardiomyopathy
  • p.Leu465= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Leu481= Multiple submitters cardiomyopathy
  • p.Leu505= Multiple submitters cardiomyopathy
  • p.Leu506= Multiple submitters Cardiovascular phenotype
  • p.Leu538= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Leu54= Multiple submitters cardiomyopathy
  • p.Leu542= Multiple submitters
  • p.Leu64= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Leu662= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Leu727= Multiple submitters Cardiovascular phenotype
  • p.Leu743= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Leu755= Multiple submitters cardiomyopathy
  • p.Leu769= Multiple submitters Cardiovascular phenotype
  • p.Leu800= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Leu803= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Leu809= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Leu92= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Lys37= Multiple submitters Cardiovascular phenotype
  • p.Lys384= Multiple submitters cardiomyopathy
  • p.Lys389= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Lys624= Multiple submitters Cardiovascular phenotype
  • p.Lys67= Multiple submitters cardiomyopathy
  • p.Pro156= Multiple submitters Cardiovascular phenotype
  • p.Pro191= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Pro192= Multiple submitters Cardiovascular phenotype
  • p.Pro238= Multiple submitters Cardiovascular phenotype
  • p.Pro367= Multiple submitters cardiomyopathy
  • p.Pro4= Multiple submitters Cardiovascular phenotype
  • p.Pro495= Multiple submitters Cardiovascular phenotype
  • p.Pro619= Multiple submitters Cardiovascular phenotype
  • p.Pro699= Multiple submitters cardiomyopathy
  • p.Pro739= Multiple submitters Cardiovascular phenotype
  • p.Pro84= Multiple submitters Cardiovascular phenotype
  • p.Ser135= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Ser140= Multiple submitters cardiomyopathy
  • p.Ser151= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Ser164= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Ser197= Multiple submitters Cardiovascular phenotype
  • p.Ser227= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Ser34= Multiple submitters cardiomyopathy
  • p.Ser466= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Ser492= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Ser636= Multiple submitters Cardiovascular phenotype
  • p.Ser644= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Ser669= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Ser707= Multiple submitters Cardiovascular phenotype
  • p.Ser789= Multiple submitters Cardiovascular phenotype
  • p.Ser797= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Ser834= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Thr116= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Thr229= Multiple submitters Cardiovascular phenotype
  • p.Thr242= Multiple submitters cardiomyopathy
  • p.Thr300= Multiple submitters Cardiovascular phenotype
  • p.Thr334= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Thr449= Multiple submitters cardiomyopathy
  • p.Thr560= Multiple submitters Cardiovascular phenotype
  • p.Thr666= Multiple submitters Cardiovascular phenotype
  • p.Thr679= Multiple submitters Cardiovascular phenotype
  • p.Thr754= Multiple submitters cardiomyopathy
  • p.Thr772= Multiple submitters cardiomyopathy
  • p.Thr807= Multiple submitters Cardiovascular phenotype
  • p.Tyr10= Multiple submitters Cardiovascular phenotype
  • p.Tyr12= Multiple submitters cardiomyopathy
  • p.Tyr130= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Tyr166= Multiple submitters Cardiovascular phenotype
  • p.Tyr168= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Tyr194= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Tyr221= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Tyr499= Multiple submitters cardiomyopathy
  • p.Tyr615= Multiple submitters Cardiovascular phenotype
  • p.Val200= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Val268= Multiple submitters Cardiovascular phenotype
  • p.Val308= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Val321= Multiple submitters cardiomyopathy
  • p.Val411= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Val423= Multiple submitters Cardiovascular phenotype
  • p.Val546= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • p.Val60= Multiple submitters Cardiovascular phenotype
  • p.Val618= Multiple submitters cardiomyopathy
  • p.Val676= Multiple submitters arrhythmogenic right ventricular dysplasia 9
  • p.Val87= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
  • c.1034+136A>G Single submitter
  • c.1034+13C>G Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1034+19C>T Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1034+7C>A Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1034+9C>G Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1035-10G>A Single submitter arrhythmogenic right ventricular cardiomyopathy
  • c.1035-16G>A Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1035-18C>T Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1035-20dup Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1170+10A>C Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1170+10A>G Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1170+13T>G Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1170+14T>A Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1170+15C>A Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1170+17G>A Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1170+18T>C Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1170+18T>G Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1170+19C>G Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1170+20C>T Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1170+258G>T Single submitter
  • c.1171-16T>C Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1171-19G>T Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1171-20T>C Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1171-20T>G Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1171-4C>G Single submitter cardiomyopathy
  • c.1378+17A>G Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1379-12G>T Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1379-14_1379-13del Single submitter cardiomyopathy
  • c.1379-1792_1379-1791dup Single submitter
  • c.1379-1792dup Single submitter
  • c.1379-1919G>C Single submitter
  • c.1379-1960T>C Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1379-1963C>A Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1379-1967C>T Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1379-1968C>G Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1379-1972G>C Single submitter Cardiovascular phenotype
  • c.1379-1984C>T Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1379-1990G>A Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1379-1997G>C Single submitter Cardiovascular phenotype
  • c.1379-1998C>A Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1379-2001G>T Single submitter Cardiovascular phenotype
  • c.1379-2026A>G Single submitter Cardiovascular phenotype
  • c.1379-2032A>T Single submitter Cardiovascular phenotype
  • c.1379-2061G>A Single submitter cardiomyopathy
  • c.1379-2068C>A Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1379-2071G>C Single submitter arrhythmogenic right ventricular cardiomyopathy
  • c.1379-2080T>C Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1379-2083G>A Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1379-2101A>T Single submitter Cardiovascular phenotype
  • c.1379-2114G>A Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1379-2117T>A Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1379-2117T>C Single submitter arrhythmogenic right ventricular cardiomyopathy
  • c.1379-2354A>T Single submitter
  • c.1556+11C>G Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1556+12T>C Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1556+15A>T Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1556+18C>G Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1556+233G>A Single submitter
  • c.1556+243G>A Single submitter
  • c.1556+280A>T Single submitter
  • c.1557-10T>G Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1557-20T>G Single submitter
  • c.1557-21GTTTTTT[3] Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1557-5G>A Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1674+12G>C Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1674+14T>A Single submitter
  • c.1674+18T>C Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1674+20T>C Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1674+7C>G Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1674+9A>C Single submitter
  • c.1675-10G>A Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1675-11del Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1675-15G>A Single submitter cardiomyopathy
  • c.1675-18C>T Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1839+19G>C Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1839+84C>G Single submitter
  • c.1840-10G>A Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1840-16T>C Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1840-19T>C Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1840-298T>A Single submitter
  • c.1840-4T>C Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.1840-5del Single submitter cardiomyopathy
  • c.1840-6G>T Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.2013+10G>T Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.2013+16G>A Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.2013+19T>C Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.2013+6_2013+9dup Single submitter arrhythmogenic right ventricular dysplasia 9
  • c.2013+8T>C Single submitter arrhythmogenic right ventricular dysplasia 9

Uncertain significance 1057

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