TMEM43 — 1117 ClinVar variants

All ClinVar germline TMEM43 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 516 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 113 Conflicting · 36 Benign · 40 Benign/Likely benign · 336 Likely benign · 589 Uncertain significance

Full TMEM43 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 516

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 74

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

TMEM43 p.Ala314Pro Conflicting Single submitter
auditory neuropathy, autosomal dominant 3
TMEM43 p.Ala366Val Conflicting Single submitter
cardiomyopathy
TMEM43 p.Ala57Ser Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ala94Thr Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Arg116Gln Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Arg11Trp Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Arg12Lys Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Arg163Gln Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Arg220His Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Arg240Cys Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Arg266Gln Conflicting Single submitter
auditory neuropathy, autosomal dominant 3
TMEM43 p.Arg266Trp Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Arg268Leu Conflicting Single submitter
cardiomyopathy
TMEM43 p.Arg268Trp Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Arg302Lys Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Arg328Gln Conflicting Single submitter
cardiomyopathy
TMEM43 p.Arg341Gln Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Arg96Gln Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Arg96Gly Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Asn148Ser Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Asn324Asp Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Asp136Asn Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Asp162Asn Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Asp201Asn Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Asp342Glu Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Cys354Ser Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Gln138Arg Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Glu135Lys Conflicting Single submitter
cardiomyopathy
TMEM43 p.Glu142Lys Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Glu31Lys Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Gly222Arg Conflicting Single submitter
cardiomyopathy
TMEM43 p.Gly250Ser Conflicting Single submitter
cardiomyopathy
TMEM43 p.Gly289Arg Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Gly367Asp Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Gly381Ser Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Gly55Asp Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.His109Arg Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.His287Tyr Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.His298Arg Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.His298Gln Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ile91Val Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Leu206Val Conflicting Single submitter
cardiomyopathy
TMEM43 p.Leu248Met Conflicting Single submitter
auditory neuropathy, autosomal dominant 3
TMEM43 p.Leu285Ile Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Leu343Pro Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Leu362Arg Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Leu384Phe Conflicting Single submitter
cardiomyopathy
TMEM43 p.Leu384Val Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Lys159Glu Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Lys16Arg Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Lys99Arg Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Met121Val Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Met321Val Conflicting Single submitter
cardiomyopathy
TMEM43 p.Met41Val Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Phe353Leu Conflicting Single submitter
auditory neuropathy, autosomal dominant 3
TMEM43 p.Pro104Ala Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Pro82Leu Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Ser209Ala Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ser33Leu Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Ser46Pro Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ser69Leu Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Ser6Cys Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Ser79Gly Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Thr282Ala Conflicting Single submitter
cardiomyopathy
TMEM43 p.Thr62Ala Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Trp316Ser Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Tyr371His Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Val113Met Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Val17Ile Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Val216Leu Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Val216Met Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Val260Met Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Val339Ile Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Val89Met Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 5

Predictors lean, ClinVar uncertain 313

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 313

TMEM43 p.Ala172Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ala182Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Ala182Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ala313Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ala356Val Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Ala365Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ala380Gly Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Ala383Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ala390Ser Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Ala396Val Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Ala3Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ala61Gly Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ala65Thr Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Ala94Val Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Arg117Trp Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Arg11Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Arg11Gly Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Arg221His Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Arg240Gly Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Arg240His Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Arg240Pro Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Arg268Gln Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Arg28Gln Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Arg299Gly Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Arg302Met Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Arg302Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Arg302Trp Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Arg312Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Arg391Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Arg391Trp Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Arg393Gln Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Arg393Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Arg56His Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Asn202Ile Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Asn345Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Asn84Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Asp198Asn Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Asp251Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Asp270Gly Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Asp335Asn Uncertain significance Multiple submitters
auditory neuropathy, autosomal dominant 3
TMEM43 p.Asp75Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Glu132Lys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Glu212Gln Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Glu229Gly Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Glu229Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Glu235Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Gly166Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Gly195Val Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Gly280Glu Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Gly315Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Gly322Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Gly34Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Gly67Val Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Gly86Glu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.His14Tyr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.His167Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.His167Asp Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.His215Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.His287Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.His288Arg Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.His288Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.His298Asp Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.His90Tyr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ile218Val Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Ile346Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Ile387Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ile77Met Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ile91Met Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ile92Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Leu110Pro Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Leu115Pro Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Leu196Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Leu211Val Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Leu284Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Leu325Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Leu348Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Leu359Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Leu374Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Leu377Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Leu399Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Leu40Val Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Leu45Phe Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Leu70Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Lys141Glu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Lys168Glu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Lys16Ile Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Lys18Arg Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Lys204Arg Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Lys232Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Lys278Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Met121Arg Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Met121Ile Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Met121Thr Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Met173Thr Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Met306Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Met306Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Met319Val Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Phe190Ile Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Phe320Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Phe340Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Phe37Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Pro111Leu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Pro183Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Pro183Leu Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Pro214Ala Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Pro234Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Pro338Leu Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Pro395Arg Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Pro82Ala Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Pro82Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ser102Ala Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Ser146Phe Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ser158Asn Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Ser177Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Ser193Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Ser209Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Ser20Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Ser21Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Ser305Tyr Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Ser76Asn Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Ser79Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Ser7Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Ser9Asn Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Thr127Ile Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Thr134Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Thr134Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Thr181Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Thr332Ala Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Thr60Met Uncertain significance Multiple submitters
arrhythmogenic right ventricular cardiomyopathy
TMEM43 p.Trp316Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Trp316Cys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Tyr106Cys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Tyr147Cys Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Tyr245Cys Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Tyr48Cys Uncertain significance Multiple submitters
TMEM43-related disorder
TMEM43 p.Tyr48Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Tyr5Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Tyr5His Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Val119Met Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Val200Ala Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Val241Ile Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Val355Ala Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Val364Met Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Val38Met Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Val394Met Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Ala112Ser Uncertain significance Single submitter
Cardiovascular phenotype
TMEM43 p.Ala258Pro Uncertain significance Single submitter
cardiomyopathy
TMEM43 p.Ala258Thr Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ala258Val Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ala265Thr Uncertain significance Single submitter
cardiomyopathy

Predictors split 129

The independent predictors disagree with each other — read with care.

TMEM43 p.Ala174Thr Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Ala293Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Arg372Gln Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Arg96Pro Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Asp162Gly Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Asp162Tyr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Asp217Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Cys354Tyr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Glu142Gln Uncertain significance Multiple submitters
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
TMEM43 p.Glu164Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Glu235Gly Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Glu54Asp Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Gly137Ala Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Gly322Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.His227Tyr Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Ile165Thr Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Ile187Thr Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Leu248Pro Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Leu285Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Met173Val Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Met326Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Met36Ile Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Met36Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Phe184Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Phe224Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Phe225Leu Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Phe297Ile Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Phe340Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Phe351Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Phe353Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Phe47Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Pro386Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Pro74Ser Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Ser153Leu Uncertain significance Multiple submitters
auditory neuropathy, autosomal dominant 3
TMEM43 p.Ser228Gly Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Ser358Leu Pathogenic Multiple submitters
TMEM43-related disorder
TMEM43 p.Thr149Ile Uncertain significance Multiple submitters
cardiomyopathy
TMEM43 p.Thr327Arg Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Thr360Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Trp375Arg Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Tyr371Ser Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Val108Phe Uncertain significance Multiple submitters
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Val236Met Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Val344Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Val89Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
TMEM43 p.Ala174Val Uncertain significance Single submitter
Cardiovascular phenotype
TMEM43 p.Ala246Val Uncertain significance Single submitter
cardiomyopathy
TMEM43 p.Ala293Glu Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ala376Val Uncertain significance Single submitter
cardiomyopathy
TMEM43 p.Ala380Asp Uncertain significance Single submitter
Cardiovascular phenotype
TMEM43 p.Ala57Thr Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Arg116Trp Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Arg163Gly Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Arg220Cys Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Arg220Gly Uncertain significance Single submitter
cardiomyopathy
TMEM43 p.Arg220Ser Uncertain significance Single submitter
Cardiovascular phenotype
TMEM43 p.Arg221Cys Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Arg221Pro Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Arg56Cys Conflicting Single submitter
cardiomyopathy
TMEM43 p.Asn157Lys Uncertain significance Single submitter
cardiomyopathy
TMEM43 p.Asp213His Uncertain significance Single submitter
cardiomyopathy
TMEM43 p.Asp217Gly Uncertain significance Single submitter
Cardiovascular phenotype
TMEM43 p.Asp217His Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Asp223Tyr Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Asp335Glu Uncertain significance Single submitter
cardiomyopathy
TMEM43 p.Glu132Ala Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Glu142Asp Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Glu300Asp Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Glu300Gly Uncertain significance Single submitter
Cardiovascular phenotype
TMEM43 p.Glu85Lys Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Gly166Ala Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Gly256Asp Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Gly289Glu Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Gly86Arg Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.His14Arg Uncertain significance Single submitter
Cardiovascular phenotype
TMEM43 p.His14Asp Uncertain significance Single submitter
cardiomyopathy
TMEM43 p.His14Gln Uncertain significance Single submitter
cardiomyopathy
TMEM43 p.His215Gln Uncertain significance Single submitter
TMEM43 p.His215Pro Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.His227Asp Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.His298Pro Uncertain significance Single submitter
cardiomyopathy
TMEM43 p.Ile329Thr Uncertain significance Single submitter
TMEM43 p.Ile387Thr Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Leu192Val Uncertain significance Single submitter
cardiomyopathy
TMEM43 p.Leu239Phe Uncertain significance Single submitter
Cardiovascular phenotype
TMEM43 p.Leu255Pro Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Leu333Ser Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Leu44Pro Uncertain significance Single submitter
Cardiovascular phenotype
TMEM43 p.Leu58Trp Uncertain significance Single submitter
cardiomyopathy
TMEM43 p.Leu70Pro Uncertain significance Single submitter
cardiomyopathy
TMEM43 p.Lys159Ile Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Lys168Asn Uncertain significance Single submitter
cardiomyopathy
TMEM43 p.Lys199Asn Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Lys398Met Uncertain significance Single submitter
Cardiovascular phenotype
TMEM43 p.Met319Thr Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Met326Lys Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Phe203Leu Uncertain significance Single submitter
Cardiovascular phenotype
TMEM43 p.Phe275Cys Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Phe297Leu Uncertain significance Single submitter
Cardiovascular phenotype
TMEM43 p.Phe353Tyr Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Phe370Leu Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Phe47Leu Uncertain significance Single submitter
cardiomyopathy
TMEM43 p.Pro104Ser Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ser102Cys Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Ser146Cys Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ser242Cys Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ser242Pro Uncertain significance Single submitter
cardiomyopathy
TMEM43 p.Ser279Tyr Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ser30Arg Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ser358Pro Conflicting Single submitter
cardiomyopathy
TMEM43 p.Ser46Thr Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ser73Cys Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Ser73Tyr Uncertain significance Single submitter
TMEM43 p.Thr143Arg Likely benign Single submitter
Cardiovascular phenotype
TMEM43 p.Thr143Met Conflicting Single submitter
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
TMEM43 p.Thr282Pro Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Thr332Asn Uncertain significance Single submitter
cardiomyopathy
TMEM43 p.Thr97Ile Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Trp336Arg Uncertain significance Single submitter
Cardiovascular phenotype
TMEM43 p.Trp375Cys Uncertain significance Single submitter
Cardiovascular phenotype
TMEM43 p.Tyr106His Uncertain significance Single submitter
cardiomyopathy
TMEM43 p.Tyr122Cys Uncertain significance Single submitter
cardiomyopathy
TMEM43 p.Tyr371Cys Conflicting Single submitter
cardiomyopathy
TMEM43 p.Tyr371Phe Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Val108Ala Conflicting Single submitter
Cardiovascular phenotype
TMEM43 p.Val175Met Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Val17Ala Uncertain significance Single submitter
cardiomyopathy
TMEM43 p.Val38Glu Uncertain significance Single submitter
arrhythmogenic right ventricular dysplasia 5
TMEM43 p.Val72Met Conflicting Single submitter
arrhythmogenic right ventricular dysplasia 5

All TMEM43 variants

Pathogenic 1

p.Ser358Leu Multiple submitters TMEM43-related disorder ⚠

Likely pathogenic 2

c.393-2A>G Single submitter arrhythmogenic right ventricular dysplasia 5
p.Leu68fs Single submitter Emery-Dreifuss muscular dystrophy 7, autosomal dominant

Conflicting classifications of pathogenicity 113

c.1001-3C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.13-3C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.392+16_392+32del Single submitter cardiomyopathy
c.393-4G>T Single submitter cardiomyopathy
c.513-9C>G Single submitter arrhythmogenic right ventricular dysplasia 5
c.705+6C>T Single submitter cardiomyopathy
c.705+7G>A Single submitter Cardiovascular phenotype
c.706-3C>T Single submitter Cardiovascular phenotype
c.706-3del Single submitter arrhythmogenic right ventricular dysplasia 5
c.781-3C>T Single submitter cardiomyopathy
c.882+3G>A Single submitter Cardiovascular phenotype
c.-2C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.-4C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.-6C>T Single submitter cardiomyopathy
p.Ala314Pro Single submitter auditory neuropathy, autosomal dominant 3 ⚠
p.Ala366Val Single submitter cardiomyopathy ⚠
p.Ala57Ser Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ala57Thr Single submitter Cardiovascular phenotype ⚠
p.Ala94Thr Single submitter Cardiovascular phenotype ⚠
p.Arg116Gln Single submitter Cardiovascular phenotype ⚠
p.Arg116Trp Single submitter Cardiovascular phenotype ⚠
p.Arg11Trp Single submitter Cardiovascular phenotype ⚠
p.Arg12Lys Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Arg163Gln Single submitter Cardiovascular phenotype ⚠
p.Arg163Ter Single submitter arrhythmogenic right ventricular dysplasia 5
p.Arg220Cys Single submitter Cardiovascular phenotype ⚠
p.Arg220His Single submitter Cardiovascular phenotype ⚠
p.Arg221Cys Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Arg240Cys Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Arg266Gln Single submitter auditory neuropathy, autosomal dominant 3 ⚠
p.Arg266Trp Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Arg268Leu Single submitter cardiomyopathy ⚠
p.Arg268Trp Single submitter Cardiovascular phenotype ⚠
p.Arg302Lys Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Arg328Gln Single submitter cardiomyopathy ⚠
p.Arg341Gln Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Arg341Ter Single submitter Cardiovascular phenotype
p.Arg372Ter Single submitter Emery-Dreifuss muscular dystrophy 7, autosomal dominant
p.Arg56Cys Single submitter cardiomyopathy ⚠
p.Arg96Gln Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Arg96Gly Single submitter Cardiovascular phenotype ⚠
p.Asn148Ser Single submitter Cardiovascular phenotype ⚠
p.Asn324Asp Single submitter Cardiovascular phenotype ⚠
p.Asp136Asn Single submitter Cardiovascular phenotype ⚠
p.Asp162Asn Single submitter Cardiovascular phenotype ⚠
p.Asp201Asn Single submitter Cardiovascular phenotype ⚠
p.Asp342Glu Single submitter Cardiovascular phenotype ⚠
p.Cys354Ser Single submitter Cardiovascular phenotype ⚠
p.Gln138Arg Single submitter Cardiovascular phenotype ⚠
p.Glu135Lys Single submitter cardiomyopathy ⚠
p.Glu142Lys Single submitter Cardiovascular phenotype ⚠
p.Glu31Lys Single submitter Cardiovascular phenotype ⚠
p.Gly166Ala Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Gly188= Single submitter Cardiovascular phenotype
p.Gly222Arg Single submitter cardiomyopathy ⚠
p.Gly250Ser Single submitter cardiomyopathy ⚠
p.Gly289Arg Single submitter Cardiovascular phenotype ⚠
p.Gly367Asp Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Gly381Ser Single submitter Cardiovascular phenotype ⚠
p.Gly55Asp Single submitter Cardiovascular phenotype ⚠
p.His109Arg Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.His215Pro Single submitter Cardiovascular phenotype ⚠
p.His227Asp Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.His287Tyr Single submitter Cardiovascular phenotype ⚠
p.His298Arg Single submitter Cardiovascular phenotype ⚠
p.His298Gln Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ile91Val Single submitter Cardiovascular phenotype ⚠
p.Leu206Val Single submitter cardiomyopathy ⚠
p.Leu248Met Single submitter auditory neuropathy, autosomal dominant 3 ⚠
p.Leu285Ile Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Leu343Pro Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Leu362Arg Single submitter Cardiovascular phenotype ⚠
p.Leu374fs Single submitter cardiomyopathy
p.Leu384Phe Single submitter cardiomyopathy ⚠
p.Leu384Val Single submitter Cardiovascular phenotype ⚠
p.Lys141del Single submitter cardiomyopathy
p.Lys159Glu Single submitter Cardiovascular phenotype ⚠
p.Lys16Arg Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Lys99Arg Single submitter Cardiovascular phenotype ⚠
p.Met121Val Single submitter Cardiovascular phenotype ⚠
p.Met179Thr Single submitter arrhythmogenic right ventricular dysplasia 5
p.Met319Thr Single submitter Cardiovascular phenotype ⚠
p.Met321Val Single submitter cardiomyopathy ⚠
p.Met41Val Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Phe353Leu Single submitter auditory neuropathy, autosomal dominant 3 ⚠
p.Pro104Ala Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Pro111= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Pro82Leu Single submitter Cardiovascular phenotype ⚠
p.Ser102Cys Single submitter Cardiovascular phenotype ⚠
p.Ser209Ala Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ser30= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Ser33= Single submitter cardiomyopathy
p.Ser33Leu Single submitter Cardiovascular phenotype ⚠
p.Ser358Pro Single submitter cardiomyopathy ⚠
p.Ser46Pro Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ser69Leu Single submitter Cardiovascular phenotype ⚠
p.Ser6Cys Single submitter Cardiovascular phenotype ⚠
p.Ser79Gly Single submitter Cardiovascular phenotype ⚠
p.Thr143Met Single submitter Emery-Dreifuss muscular dystrophy 7, autosomal dominant ⚠
p.Thr282Ala Single submitter cardiomyopathy ⚠
p.Thr62Ala Single submitter Cardiovascular phenotype ⚠
p.Trp316Ser Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Tyr371Cys Single submitter cardiomyopathy ⚠
p.Tyr371His Single submitter Cardiovascular phenotype ⚠
p.Val108Ala Single submitter Cardiovascular phenotype ⚠
p.Val113Met Single submitter Cardiovascular phenotype ⚠
p.Val17Ile Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Val216Leu Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Val216Met Single submitter Cardiovascular phenotype ⚠
p.Val260Met Single submitter Cardiovascular phenotype ⚠
p.Val339Ile Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Val72Met Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Val89Met Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠

Benign 36

c.1001-41G>A Multiple submitters
c.12+130C>T Multiple submitters
c.13-519G>A Multiple submitters
c.162+147C>T Multiple submitters
c.163-14C>T Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.298-106C>T Multiple submitters
c.393-83G>T Multiple submitters
c.442+51T>C Multiple submitters
c.513-90G>A Multiple submitters
c.705+55G>A Multiple submitters
c.883-47C>T Multiple submitters Emery-Dreifuss muscular dystrophy 7, autosomal dominant
c.-300T>C Multiple submitters
c.-414C>T Multiple submitters
c.*31T>C Multiple submitters
p.Ser303= Multiple submitters Cardiovascular phenotype
c.1000+261G>A Single submitter
c.12+167C>T Single submitter
c.12+280_12+281dup Single submitter
c.13-420A>G Single submitter
c.13-520C>T Single submitter
c.13-78del Single submitter
c.13-78dup Single submitter
c.13-79_13-78del Single submitter
c.13-79_13-78dup Single submitter
c.163-247C>T Single submitter
c.298-253C>T Single submitter
c.392+121C>G Single submitter
c.442+43del Single submitter
c.780+20del Single submitter arrhythmogenic right ventricular dysplasia 5
c.781-113T>C Single submitter
c.781-278A>G Single submitter
c.882+336A>C Single submitter
c.883-128A>G Single submitter
c.-31G>A Single submitter
c.*217G>A Single submitter
p.Ile387= Single submitter

Benign/Likely benign 40

c.1000+16G>A Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.13-517A>G Multiple submitters
c.163-13C>T Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.163-3del Multiple submitters Cardiovascular phenotype
c.163-6T>A Multiple submitters cardiomyopathy
c.392+16G>A Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.442+12G>C Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.442+7G>A Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.443-9C>T Multiple submitters cardiomyopathy
c.512+19G>T Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.512+9C>G Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.780+16A>G Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.-3A>T Multiple submitters Cardiovascular phenotype
c.*115T>C Multiple submitters
c.*16C>T Multiple submitters
c.*8C>T Multiple submitters cardiomyopathy
p.Ala318Val Multiple submitters Cardiovascular phenotype
p.Ala365= Multiple submitters Cardiovascular phenotype
p.Ala366Thr Multiple submitters Cardiovascular phenotype
p.Arg266= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Arg28Trp Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Arg299Thr Multiple submitters auditory neuropathy, autosomal dominant 3
p.Arg312Trp Multiple submitters Emery-Dreifuss muscular dystrophy 7, autosomal dominant
p.Gly93= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.His259= Multiple submitters cardiomyopathy
p.His288= Multiple submitters Cardiovascular phenotype
p.Leu369Phe Multiple submitters Cardiovascular phenotype
p.Lys278= Multiple submitters Cardiovascular phenotype
p.Lys307= Multiple submitters Cardiovascular phenotype
p.Pro231Leu Multiple submitters Cardiovascular phenotype
p.Pro74= Multiple submitters Cardiovascular phenotype
p.Pro82= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Ser193= Multiple submitters Cardiovascular phenotype
p.Ser30Asn Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Ser63= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Thr143= Multiple submitters Cardiovascular phenotype
p.Thr277Ser Multiple submitters Cardiovascular phenotype
p.Tyr233Cys Multiple submitters cardiomyopathy
p.Val15= Multiple submitters Cardiovascular phenotype
c.162+21C>T No assertion criteria

Likely benign 336

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

c.1000+12G>A Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.1001-11C>T Multiple submitters cardiomyopathy
c.1001-7T>C Multiple submitters cardiomyopathy
c.162+227A>G Multiple submitters
c.297+13G>A Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.392+8G>C Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.392+9T>C Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.393-168T>G Multiple submitters
c.442+19dup Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.442+20C>T Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.443-10C>T Multiple submitters cardiomyopathy
c.443-12C>G Multiple submitters cardiomyopathy
c.512+12G>A Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.512+19G>A Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.512+3G>A Multiple submitters cardiomyopathy
c.512+8C>A Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.513-11C>T Multiple submitters cardiomyopathy
c.513-18G>A Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.513-20C>T Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.583+8T>C Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.584-13C>G Multiple submitters cardiomyopathy
c.584-14T>G Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.584-16A>G Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.584-5C>T Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.705+11A>T Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.706-13C>T Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.706-20T>C Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.706-4C>G Multiple submitters cardiomyopathy
c.706-4C>T Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.781-13G>T Multiple submitters cardiomyopathy
c.882+17A>G Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.882+25G>A Multiple submitters
c.883-15C>G Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.*20C>T Multiple submitters
p.Ala112= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Ala2= Multiple submitters Cardiovascular phenotype
p.Ala352= Multiple submitters cardiomyopathy
p.Ala376= Multiple submitters Cardiovascular phenotype
p.Ala380= Multiple submitters cardiomyopathy
p.Ala65= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Arg117= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Arg56= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Arg96= Multiple submitters Cardiovascular phenotype
p.Asn84= Multiple submitters cardiomyopathy
p.Asp238= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Asp251= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Asp252= Multiple submitters Cardiovascular phenotype
p.Asp270= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Gln123= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Gln138= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Gln267= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Gln271= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Glu129= Multiple submitters cardiomyopathy
p.Glu13= Multiple submitters cardiomyopathy
p.Glu164= Multiple submitters Cardiovascular phenotype
p.Glu300= Multiple submitters cardiomyopathy
p.Gly250= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Gly289= Multiple submitters cardiomyopathy
p.Gly34= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Gly55= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.His118= Multiple submitters cardiomyopathy
p.His14= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.His215= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.His298= Multiple submitters Cardiovascular phenotype
p.Ile156= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Ile197= Multiple submitters Cardiovascular phenotype
p.Ile264= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Ile346= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Leu101= Multiple submitters Cardiovascular phenotype
p.Leu211= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Leu248= Multiple submitters Cardiovascular phenotype
p.Leu255= Multiple submitters Cardiovascular phenotype
p.Leu26= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Leu272= Multiple submitters cardiomyopathy
p.Leu283= Multiple submitters cardiomyopathy
p.Leu284= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Leu285= Multiple submitters cardiomyopathy
p.Leu388= Multiple submitters cardiomyopathy
p.Leu45= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Leu68= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Lys210= Multiple submitters cardiomyopathy
p.Phe161= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Phe184= Multiple submitters Cardiovascular phenotype
p.Phe291= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Pro183= Multiple submitters Cardiovascular phenotype
p.Pro23= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Pro386= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Pro395= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Ser177= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Ser205= Multiple submitters Cardiovascular phenotype
p.Ser228= Multiple submitters Cardiovascular phenotype
p.Ser249= Multiple submitters Cardiovascular phenotype
p.Ser305= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Ser358= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Ser9= Multiple submitters Cardiovascular phenotype
p.Ser9Gly Multiple submitters cardiomyopathy
p.Thr127= Multiple submitters Cardiovascular phenotype
p.Thr262= Multiple submitters Cardiovascular phenotype
p.Thr277= Multiple submitters Cardiovascular phenotype
p.Thr32= Multiple submitters Cardiovascular phenotype
p.Thr327= Multiple submitters Cardiovascular phenotype
p.Thr360= Multiple submitters Cardiovascular phenotype
p.Thr60= Multiple submitters Cardiovascular phenotype
p.Thr62= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Tyr122= Multiple submitters cardiomyopathy
p.Tyr133= Multiple submitters cardiomyopathy
p.Tyr331= Multiple submitters Cardiovascular phenotype
p.Val108= Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Val17= Multiple submitters Cardiovascular phenotype
p.Val200= Multiple submitters Cardiovascular phenotype
p.Val72= Multiple submitters Cardiovascular phenotype
p.Val89= Multiple submitters Cardiovascular phenotype
c.1000+13G>C Single submitter arrhythmogenic right ventricular dysplasia 5
c.1000+226_1000+227del Single submitter
c.1001-10C>G Single submitter cardiomyopathy
c.1001-10C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.1001-4A>G Single submitter arrhythmogenic right ventricular dysplasia 5
c.1001-6C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.12+15G>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.12+16C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.12+19G>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.12+34G>C Single submitter
c.13-12C>G Single submitter arrhythmogenic right ventricular dysplasia 5
c.13-12del Single submitter arrhythmogenic right ventricular dysplasia 5
c.13-18C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.13-328C>T Single submitter
c.13-421A>C Single submitter
c.13-4T>C Single submitter arrhythmogenic right ventricular dysplasia 5
c.13-564A>G Single submitter
c.13-6C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.13-7T>C Single submitter cardiomyopathy
c.13-81_13-78del Single submitter
c.162+17C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.162+20C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.162+21del Single submitter arrhythmogenic right ventricular dysplasia 5
c.162+7T>C Single submitter arrhythmogenic right ventricular dysplasia 5
c.163-20C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.163-9T>C Single submitter arrhythmogenic right ventricular dysplasia 5
c.297+14G>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.297+16G>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.297+17A>C Single submitter arrhythmogenic right ventricular dysplasia 5
c.298-12T>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.298-13A>G Single submitter cardiomyopathy
c.298-15T>C Single submitter arrhythmogenic right ventricular dysplasia 5
c.298-6T>C Single submitter arrhythmogenic right ventricular dysplasia 5
c.392+12G>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.392+14G>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.392+15T>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.392+191G>A Single submitter
c.392+254C>T Single submitter
c.392+6C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.393-13G>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.393-16T>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.393-18G>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.393-19T>C Single submitter arrhythmogenic right ventricular dysplasia 5
c.393-20C>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.393-274A>C Single submitter
c.393-6C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.393-7C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.442+10G>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.442+10G>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.442+11G>C Single submitter arrhythmogenic right ventricular dysplasia 5
c.442+13C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.442+14C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.442+16C>G Single submitter
c.442+8C>G Single submitter arrhythmogenic right ventricular dysplasia 5
c.443-18A>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.443-48G>A Single submitter
c.443-4G>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.443-5A>G Single submitter arrhythmogenic right ventricular dysplasia 5
c.512+15C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.512+20C>G Single submitter arrhythmogenic right ventricular dysplasia 5
c.512+7G>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.513-125C>T Single submitter
c.513-14C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.513-16T>G Single submitter arrhythmogenic right ventricular dysplasia 5
c.513-17C>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.513-17C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.513-285T>C Single submitter
c.513-4A>G Single submitter cardiomyopathy
c.513-5C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.513-7C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.513-8T>C Single submitter arrhythmogenic right ventricular dysplasia 5
c.583+10A>G Single submitter arrhythmogenic right ventricular dysplasia 5
c.583+10A>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.583+12G>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.583+13C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.583+16C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.583+193A>C Single submitter
c.583+7C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.583+8T>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.583+9C>G Single submitter arrhythmogenic right ventricular dysplasia 5
c.584-15C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.584-18C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.584-262A>T Single submitter
c.584-5dup Single submitter
c.584-7C>G Single submitter arrhythmogenic right ventricular dysplasia 5
c.584-7C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.705+12G>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.705+13G>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.705+14C>G Single submitter arrhythmogenic right ventricular dysplasia 5
c.705+15C>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.705+16T>C Single submitter arrhythmogenic right ventricular dysplasia 5
c.705+20C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.705+7G>C Single submitter arrhythmogenic right ventricular dysplasia 5
c.706-10C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.706-15C>G Single submitter arrhythmogenic right ventricular dysplasia 5
c.706-6C>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.706-6C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.706-9dup Single submitter arrhythmogenic right ventricular dysplasia 5
c.780+13C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.780+18G>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.780+19G>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.780+19G>C Single submitter arrhythmogenic right ventricular dysplasia 5
c.780+20G>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.780+20G>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.780+7T>G Single submitter arrhythmogenic right ventricular dysplasia 5
c.780+9G>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.781-10C>G Single submitter arrhythmogenic right ventricular dysplasia 5
c.781-11C>A Single submitter cardiomyopathy
c.781-13G>C Single submitter arrhythmogenic right ventricular dysplasia 5
c.781-16C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.781-17C>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.781-17C>G Single submitter arrhythmogenic right ventricular dysplasia 5
c.781-19C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.781-225T>C Single submitter
c.781-4C>G Single submitter arrhythmogenic right ventricular dysplasia 5
c.781-4C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.781-8C>T Single submitter cardiomyopathy
c.882+12G>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.882+13C>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.882+13C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.882+15C>G Single submitter arrhythmogenic right ventricular dysplasia 5
c.882+17A>C Single submitter arrhythmogenic right ventricular dysplasia 5
c.882+18C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.882+20C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.882+779_882+1454del Single submitter Cardiovascular phenotype
c.882+8C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.883-12C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.883-13C>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.883-16C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.883-340C>T Single submitter
c.883-6C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.-11C>T Single submitter
c.*1374T>C Single submitter
c.*1424T>C Single submitter
c.*277C>T Single submitter
c.*312A>C Single submitter
c.*463A>G Single submitter
c.*719G>T Single submitter
c.*779A>C Single submitter
p.Ala172= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Ala265= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Ala3= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Ala350= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Ala356= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Ala383= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Ala396= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Ala57= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Arg116= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Arg144= Single submitter cardiomyopathy
p.Arg152= Single submitter
p.Arg268= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Arg328= Single submitter cardiomyopathy
p.Arg87= Single submitter cardiomyopathy
p.Asn345Lys Single submitter Cardiovascular phenotype
p.Asp136= Single submitter cardiomyopathy
p.Asp213= Single submitter cardiomyopathy
p.Asp254= Single submitter Cardiovascular phenotype
p.Glu132= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Glu142= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Glu212= Single submitter cardiomyopathy
p.Glu400_Ter401insTer Single submitter arrhythmogenic right ventricular dysplasia 5
p.Glu85= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Gly256= Single submitter Cardiovascular phenotype
p.Gly280= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Gly347= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Gly35= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Gly39= Single submitter cardiomyopathy
p.Gly67= Single submitter arrhythmogenic right ventricular dysplasia 5
p.His287= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Ile165= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Ile329= Single submitter Cardiovascular phenotype
p.Ile77= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Ile91= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Leu110= Single submitter cardiomyopathy
p.Leu192= Single submitter Cardiovascular phenotype
p.Leu196= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Leu208= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Leu286= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Leu29= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Leu311= Single submitter cardiomyopathy
p.Leu323= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Leu330= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Leu359= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Leu361= Single submitter cardiomyopathy
p.Leu362= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Leu374= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Leu377= Single submitter arrhythmogenic right ventricular dysplasia 5
p.Leu40= Single submitter Cardiovascular phenotype

Uncertain significance 589

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

c.1000+2T>C Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.1000+5G>T Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.1000+6T>C Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.12+6_12+15del Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.13-1G>C Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.162+1G>A Multiple submitters cardiomyopathy
c.163-1G>C Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.163-3C>G Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.298-5T>A Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.392+4A>G Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.393-5_395del Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.443-3C>G Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.583+3A>G Multiple submitters cardiomyopathy
c.583+5G>A Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.583+6T>A Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.705+3G>A Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.705+5G>T Multiple submitters Cardiovascular phenotype
c.706-1G>A Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.706-1G>T Multiple submitters Cardiovascular phenotype
c.760_780+2dup Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.781-7T>A Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.883-6C>G Multiple submitters cardiomyopathy
c.884_886del Multiple submitters arrhythmogenic right ventricular dysplasia 5
c.-3A>G Multiple submitters cardiomyopathy
p.Ala172Val Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ala174Thr Multiple submitters cardiomyopathy ⚠
p.Ala182Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala182Val Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ala293Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala313Val Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ala356Val Multiple submitters cardiomyopathy ⚠
p.Ala365Val Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ala380Gly Multiple submitters cardiomyopathy ⚠
p.Ala383Thr Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ala390Ser Multiple submitters cardiomyopathy ⚠
p.Ala396Val Multiple submitters cardiomyopathy ⚠
p.Ala3Thr Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ala61Gly Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ala65Thr Multiple submitters cardiomyopathy ⚠
p.Ala94Val Multiple submitters cardiomyopathy ⚠
p.Arg117fs Multiple submitters Cardiovascular phenotype
p.Arg117Trp Multiple submitters cardiomyopathy ⚠
p.Arg11Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg11Gly Multiple submitters cardiomyopathy ⚠
p.Arg221His Multiple submitters cardiomyopathy ⚠
p.Arg240Gly Multiple submitters cardiomyopathy ⚠
p.Arg240His Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Arg240Pro Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Arg268Gln Multiple submitters cardiomyopathy ⚠
p.Arg28Gln Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Arg299Gly Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Arg302Met Multiple submitters Cardiovascular phenotype ⚠
p.Arg302Thr Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Arg302Trp Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Arg312Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg328Trp Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Arg372Gln Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Arg391fs Multiple submitters Cardiovascular phenotype
p.Arg391Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg391Trp Multiple submitters cardiomyopathy ⚠
p.Arg393Gln Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Arg393Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg56His Multiple submitters Cardiovascular phenotype ⚠
p.Arg96Pro Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Asn202Ile Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Asn324fs Multiple submitters Cardiovascular phenotype
p.Asn345Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn84Ser Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Asp162fs Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Asp162Gly Multiple submitters cardiomyopathy ⚠
p.Asp162Tyr Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Asp198Asn Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Asp217Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp251Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp251fs Multiple submitters Emery-Dreifuss muscular dystrophy 7, autosomal dominant
p.Asp270Gly Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Asp335Asn Multiple submitters auditory neuropathy, autosomal dominant 3 ⚠
p.Asp335Gly Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Asp75Asn Multiple submitters Cardiovascular phenotype ⚠
p.Cys354Phe Multiple submitters cardiomyopathy
p.Cys354Tyr Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Gln186Ter Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Glu132Lys Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Glu142Gln Multiple submitters Emery-Dreifuss muscular dystrophy 7, autosomal dominant ⚠
p.Glu150Ter Multiple submitters cardiomyopathy
p.Glu164Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu212Gln Multiple submitters cardiomyopathy ⚠
p.Glu229Gly Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Glu229Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu235Ala Multiple submitters Cardiovascular phenotype ⚠
p.Glu235Gly Multiple submitters cardiomyopathy ⚠
p.Glu300Ter Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Glu400Ter Multiple submitters cardiomyopathy
p.Glu54Asp Multiple submitters cardiomyopathy ⚠
p.Gly137Ala Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Gly137Glu Multiple submitters Cardiovascular phenotype
p.Gly166Ser Multiple submitters Cardiovascular phenotype
p.Gly166Val Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Gly195Val Multiple submitters cardiomyopathy ⚠
p.Gly280Glu Multiple submitters cardiomyopathy ⚠
p.Gly315Val Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Gly322Ser Multiple submitters Cardiovascular phenotype ⚠
p.Gly322Val Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Gly34Ser Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Gly67Val Multiple submitters cardiomyopathy ⚠
p.Gly86fs Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Gly86Glu Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.His118fs Multiple submitters cardiomyopathy
p.His14Tyr Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.His167Arg Multiple submitters Cardiovascular phenotype ⚠
p.His167Asp Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.His215Leu Multiple submitters Cardiovascular phenotype ⚠
p.His227Tyr Multiple submitters cardiomyopathy ⚠
p.His287Gln Multiple submitters Cardiovascular phenotype ⚠
p.His288Arg Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.His288Tyr Multiple submitters Cardiovascular phenotype ⚠
p.His298Asp Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.His90Tyr Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ile165Thr Multiple submitters cardiomyopathy ⚠
p.Ile187Thr Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ile218Val Multiple submitters Cardiovascular phenotype ⚠
p.Ile346Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile387Val Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ile77Met Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ile91Met Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ile92Thr Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Leu110Pro Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Leu115Pro Multiple submitters cardiomyopathy ⚠
p.Leu196Val Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Leu211Val Multiple submitters cardiomyopathy ⚠
p.Leu248Pro Multiple submitters cardiomyopathy ⚠
p.Leu284Val Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Leu285Phe Multiple submitters Cardiovascular phenotype ⚠
p.Leu311fs Multiple submitters cardiomyopathy
p.Leu325Phe Multiple submitters Cardiovascular phenotype ⚠
p.Leu348Val Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Leu359Pro Multiple submitters Cardiovascular phenotype ⚠
p.Leu374Pro Multiple submitters Cardiovascular phenotype ⚠
p.Leu377fs Multiple submitters Cardiovascular phenotype
p.Leu377Phe Multiple submitters Cardiovascular phenotype ⚠
p.Leu399Trp Multiple submitters Cardiovascular phenotype ⚠
p.Leu40Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu45Phe Multiple submitters cardiomyopathy ⚠
p.Leu70Phe Multiple submitters Cardiovascular phenotype ⚠
p.Lys141Glu Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Lys168Glu Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Lys16Ile Multiple submitters cardiomyopathy ⚠
p.Lys18Arg Multiple submitters cardiomyopathy ⚠
p.Lys204Arg Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Lys232Glu Multiple submitters Cardiovascular phenotype ⚠
p.Lys278Arg Multiple submitters Cardiovascular phenotype ⚠
p.Met121Arg Multiple submitters cardiomyopathy ⚠
p.Met121Ile Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Met121Thr Multiple submitters cardiomyopathy ⚠
p.Met173Thr Multiple submitters cardiomyopathy ⚠
p.Met173Val Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Met1Val Multiple submitters Emery-Dreifuss muscular dystrophy 7, autosomal dominant
p.Met306Ile Multiple submitters Cardiovascular phenotype ⚠
p.Met306Thr Multiple submitters Cardiovascular phenotype ⚠
p.Met319Val Multiple submitters Cardiovascular phenotype ⚠
p.Met326Ile Multiple submitters Cardiovascular phenotype ⚠
p.Met36Ile Multiple submitters cardiomyopathy ⚠
p.Met36Lys Multiple submitters Cardiovascular phenotype ⚠
p.Phe161fs Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Phe184Leu Multiple submitters Cardiovascular phenotype ⚠
p.Phe190Ile Multiple submitters cardiomyopathy ⚠
p.Phe203fs Multiple submitters Cardiovascular phenotype
p.Phe224Leu Multiple submitters Cardiovascular phenotype ⚠
p.Phe225Leu Multiple submitters cardiomyopathy ⚠
p.Phe297Ile Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Phe320Cys Multiple submitters Cardiovascular phenotype ⚠
p.Phe340Cys Multiple submitters Cardiovascular phenotype ⚠
p.Phe340Ser Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Phe351Ser Multiple submitters Cardiovascular phenotype ⚠
p.Phe353Ser Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Phe37Cys Multiple submitters Cardiovascular phenotype ⚠
p.Phe47Ser Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Pro111Leu Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Pro183_Ile187delinsLeu Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Pro183Arg Multiple submitters Cardiovascular phenotype ⚠
p.Pro183Leu Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Pro214Ala Multiple submitters cardiomyopathy ⚠
p.Pro234Ser Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Pro23fs Multiple submitters cardiomyopathy
p.Pro338Leu Multiple submitters cardiomyopathy ⚠
p.Pro386Ser Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Pro395Arg Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Pro74Ser Multiple submitters cardiomyopathy ⚠
p.Pro82Ala Multiple submitters cardiomyopathy ⚠
p.Pro82Ser Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ser102Ala Multiple submitters cardiomyopathy ⚠
p.Ser146Phe Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ser153Leu Multiple submitters auditory neuropathy, autosomal dominant 3 ⚠
p.Ser158Asn Multiple submitters cardiomyopathy ⚠
p.Ser177Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ser193Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ser193Ter Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Ser209Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Ser20Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ser21Phe Multiple submitters Cardiovascular phenotype ⚠
p.Ser228Gly Multiple submitters cardiomyopathy ⚠
p.Ser242fs Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Ser305Tyr Multiple submitters cardiomyopathy ⚠
p.Ser76Asn Multiple submitters cardiomyopathy ⚠
p.Ser76fs Multiple submitters Cardiovascular phenotype
p.Ser79Arg Multiple submitters Cardiovascular phenotype ⚠
p.Ser7Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ser9Asn Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ter401Arg Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Thr127Ile Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Thr134Asn Multiple submitters Cardiovascular phenotype ⚠
p.Thr134Ile Multiple submitters Cardiovascular phenotype ⚠
p.Thr149Ile Multiple submitters cardiomyopathy ⚠
p.Thr181Ala Multiple submitters Cardiovascular phenotype ⚠
p.Thr327Arg Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Thr332Ala Multiple submitters cardiomyopathy ⚠
p.Thr360Ile Multiple submitters Cardiovascular phenotype ⚠
p.Thr60Met Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
p.Trp124Ter Multiple submitters arrhythmogenic right ventricular dysplasia 5
p.Trp316Arg Multiple submitters Cardiovascular phenotype ⚠
p.Trp316Cys Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Trp375Arg Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Tyr106Cys Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Tyr147Cys Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Tyr233Ter Multiple submitters cardiomyopathy
p.Tyr245Cys Multiple submitters cardiomyopathy ⚠
p.Tyr371Ser Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Tyr48Cys Multiple submitters TMEM43-related disorder ⚠
p.Tyr48Ser Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Tyr5Cys Multiple submitters Cardiovascular phenotype ⚠
p.Tyr5His Multiple submitters Cardiovascular phenotype ⚠
p.Val108Phe Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Val119Met Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Val200Ala Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Val236Met Multiple submitters Cardiovascular phenotype ⚠
p.Val241Ile Multiple submitters cardiomyopathy ⚠
p.Val263fs Multiple submitters cardiomyopathy
p.Val344Gly Multiple submitters Cardiovascular phenotype ⚠
p.Val355Ala Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Val364Met Multiple submitters Cardiovascular phenotype ⚠
p.Val38Met Multiple submitters arrhythmogenic right ventricular dysplasia 5 ⚠
p.Val394Met Multiple submitters cardiomyopathy ⚠
p.Val89Leu Multiple submitters Cardiovascular phenotype ⚠
c.1000+3A>G Single submitter arrhythmogenic right ventricular dysplasia 5
c.12+1G>A Single submitter cardiomyopathy
c.12+2T>C Single submitter arrhythmogenic right ventricular dysplasia 5
c.12+3G>A Single submitter Cardiovascular phenotype
c.12+4A>C Single submitter arrhythmogenic right ventricular dysplasia 5
c.13-2A>C Single submitter arrhythmogenic right ventricular dysplasia 5
c.163-2A>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.297+1G>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.298-14G>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.298-7T>A Single submitter cardiomyopathy
c.298-8G>C Single submitter arrhythmogenic right ventricular dysplasia 5
c.392+1G>C Single submitter arrhythmogenic right ventricular dysplasia 5
c.392+1G>T Single submitter cardiomyopathy
c.393-137_412dup Single submitter arrhythmogenic right ventricular dysplasia 5
c.393-2A>C Single submitter cardiomyopathy
c.443-13T>G Single submitter arrhythmogenic right ventricular dysplasia 5
c.443-15C>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.443-2A>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.512+1G>A Single submitter Cardiovascular phenotype
c.513-15T>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.583+4A>G Single submitter arrhythmogenic right ventricular dysplasia 5
c.583+6T>C Single submitter cardiomyopathy
c.584-14del Single submitter cardiomyopathy
c.584-4T>A Single submitter arrhythmogenic right ventricular cardiomyopathy
c.706-2A>G Single submitter arrhythmogenic right ventricular dysplasia 5
c.706-3C>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.780+5C>A Single submitter arrhythmogenic right ventricular dysplasia 5
c.781-2A>G Single submitter cardiomyopathy
c.781-3C>G Single submitter cardiomyopathy
c.882+2T>C Single submitter arrhythmogenic right ventricular dysplasia 5
c.882+3G>C Single submitter cardiomyopathy
c.883-15C>A Single submitter
c.883-3C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.-10G>C Single submitter arrhythmogenic right ventricular dysplasia 5
c.-11C>G Single submitter
c.-12C>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.-13G>C Single submitter arrhythmogenic right ventricular dysplasia 5
c.-15G>A Single submitter cardiomyopathy
c.-15G>C Single submitter cardiomyopathy
c.-8G>C Single submitter cardiomyopathy
c.-9G>T Single submitter arrhythmogenic right ventricular dysplasia 5
c.*1A>C Single submitter arrhythmogenic right ventricular dysplasia 5
p.Ala112Ser Single submitter Cardiovascular phenotype ⚠
p.Ala174Val Single submitter Cardiovascular phenotype ⚠
p.Ala246Val Single submitter cardiomyopathy ⚠
p.Ala258Pro Single submitter cardiomyopathy ⚠
p.Ala258Thr Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ala258Val Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ala265Thr Single submitter cardiomyopathy ⚠
p.Ala293Glu Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ala293Val Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ala2Pro Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ala313Pro Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ala313Thr Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ala318Gly Single submitter ⚠
p.Ala356Gly Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠
p.Ala365Gly Single submitter arrhythmogenic right ventricular dysplasia 5 ⚠