TNNI3 — 820 ClinVar variants

All ClinVar germline TNNI3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 341 flagged for review →

26 Pathogenic · 16 Pathogenic/Likely pathogenic · 37 Likely pathogenic · 80 Conflicting · 20 Benign · 13 Benign/Likely benign · 232 Likely benign · 396 Uncertain significance

Full TNNI3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 341

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 9

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

TNNI3 p.Arg162Gln Likely pathogenic Expert panel
hypertrophic cardiomyopathy
TNNI3 p.Arg162Pro Pathogenic/Likely pathogenic Multiple submitters
Cardiovascular phenotype
TNNI3 p.Arg186Gln Pathogenic/Likely pathogenic Multiple submitters
TNNI3-related disorder
TNNI3 p.Leu198Val Pathogenic/Likely pathogenic Multiple submitters
Cardiovascular phenotype
TNNI3 p.Arg186Gly Likely pathogenic Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Ser44Ala Pathogenic Single submitter
cardiomyopathy, familial restrictive, 1
TNNI3 p.Asn185Lys Pathogenic No assertion criteria
dilated cardiomyopathy 1FF
TNNI3 p.Glu184Lys Likely pathogenic No assertion criteria
dilated cardiomyopathy
TNNI3 p.Lys36Gln Pathogenic No assertion criteria
dilated cardiomyopathy 1FF

Predictors agree, ClinVar conflicts 22

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

TNNI3 p.Ala102Thr Conflicting Single submitter
Cardiovascular phenotype
TNNI3 p.Ala163Val Conflicting Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Ala2Val Conflicting Single submitter
Cardiovascular phenotype
TNNI3 p.Ala43Val Conflicting Single submitter
TNNI3-related disorder
TNNI3 p.Arg10Gly Conflicting Single submitter
cardiomyopathy
TNNI3 p.Arg136Gln Conflicting Single submitter
Cardiovascular phenotype
TNNI3 p.Arg141Trp Conflicting Single submitter
Cardiovascular phenotype
TNNI3 p.Arg170Gly Conflicting Single submitter
cardiomyopathy, familial restrictive, 1
TNNI3 p.Asn185Ser Conflicting Single submitter
Cardiovascular phenotype
TNNI3 p.Asp152Gly Conflicting Single submitter
hypertrophic cardiomyopathy 7
TNNI3 p.Glu124Gln Conflicting Single submitter
TNNI3-related disorder
TNNI3 p.Gly4Glu Conflicting Single submitter
hypertrophic cardiomyopathy
TNNI3 p.His101Arg Conflicting Single submitter
hypertrophic cardiomyopathy 7
TNNI3 p.Ile114Val Conflicting Single submitter
Cardiovascular phenotype
TNNI3 p.Ile19Val Conflicting Single submitter
cardiomyopathy
TNNI3 p.Lys58Arg Conflicting Single submitter
Cardiovascular phenotype
TNNI3 p.Ser199Cys Conflicting Single submitter
Cardiovascular phenotype
TNNI3 p.Ser5Arg Conflicting Single submitter
cardiomyopathy
TNNI3 p.Thr143Asn Conflicting Single submitter
Cardiovascular phenotype
TNNI3 p.Val176Met Conflicting Single submitter
TNNI3-related disorder
TNNI3 p.Val188Gly Conflicting Single submitter
hypertrophic cardiomyopathy 7
TNNI3 p.Val188Met Conflicting Single submitter
Cardiovascular phenotype

Predictors lean, ClinVar uncertain 190

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 190

TNNI3 p.Arg162Trp Uncertain significance Expert panel
hypertrophic cardiomyopathy
TNNI3 p.Ala116Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Ala116Val Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Ala151Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Ala153Asp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Ala161Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Ala28Ser Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Ala35Val Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Ala43Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Ala65Val Uncertain significance Multiple submitters
dilated cardiomyopathy
TNNI3 p.Ala91Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Ala9Val Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Arg103Leu Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Arg103Ser Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Arg10Ser Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Arg111Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Arg141Gly Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Arg141Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Arg22His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Arg22Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Arg63Gln Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Arg69His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Arg74Pro Uncertain significance Multiple submitters
dilated cardiomyopathy 1FF
TNNI3 p.Asn194Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Asp108Asn Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Asp113Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Asp180Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Asp196His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 7
TNNI3 p.Asp196Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Asp7Asn Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Cys80Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Gln130Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Gln48Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Gln55Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Glu187Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Glu66Gly Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Glu66Lys Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Glu92Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Gly137Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Gly70Arg Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Gly73Arg Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.His101Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.His172Tyr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Ile114Thr Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Ile125Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Ile19Leu Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Ile41Asn Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Ile56Met Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Ile56Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Leu135Phe Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Leu49Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Leu76Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Leu93Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Lys164Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Lys193Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Lys205Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Lys207Arg Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Met201Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Met201Val Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Phe139Cys Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Pro12Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Pro12Ser Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Pro142His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Pro142Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Pro14Ala Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Ser166Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Ser210Asn Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Ser24Thr Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Ser39Cys Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Ser39Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Ser42Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Ser5Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Thr119Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Thr123Met Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Thr181Ala Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Thr31Ala Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Thr31Met Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Thr78Ile Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Val147Leu Uncertain significance Multiple submitters
dilated cardiomyopathy 2A
TNNI3 p.Val176Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Ala102Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Ala116Thr Uncertain significance Single submitter
cardiomyopathy
TNNI3 p.Ala126Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Ala161Pro Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Ala163Gly Uncertain significance Single submitter
TNNI3 p.Ala163Pro Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Ala28Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Ala28Val Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Ala2Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Ala2Pro Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Ala35Asp Uncertain significance Single submitter
dilated cardiomyopathy 2A
TNNI3 p.Ala35Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Ala75Ser Uncertain significance Single submitter
cardiomyopathy
TNNI3 p.Ala75Val Uncertain significance Single submitter
TNNI3 p.Ala8Gly Uncertain significance Single submitter
dilated cardiomyopathy 1FF
TNNI3 p.Ala8Thr Uncertain significance Single submitter
Cardiovascular phenotype
TNNI3 p.Ala91Val Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Ala9Gly Uncertain significance Single submitter
Cardiovascular phenotype
TNNI3 p.Ala9Thr Uncertain significance Single submitter
TNNI3 p.Arg103Pro Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Arg111Ile Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Arg136Gly Uncertain significance Single submitter
Cardiovascular phenotype
TNNI3 p.Arg136Pro Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Arg13His Uncertain significance Single submitter
TNNI3 p.Arg145Leu Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Arg162Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Arg204Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Arg22Pro Uncertain significance Single submitter
Cardiovascular phenotype
TNNI3 p.Arg69Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Asn121Ile Uncertain significance Single submitter
cardiomyopathy
TNNI3 p.Asn185Ile Uncertain significance Single submitter
cardiomyopathy
TNNI3 p.Asn185Tyr Uncertain significance Single submitter
TNNI3 p.Asn194Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Asn25Ser Uncertain significance Single submitter
TNNI3 p.Asp108Val Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Asp113Tyr Uncertain significance Single submitter
cardiomyopathy
TNNI3 p.Asp134Gly Uncertain significance Single submitter
TNNI3 p.Asp168Gly Uncertain significance Single submitter
Cardiovascular phenotype
TNNI3 p.Asp168His Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Asp168Tyr Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Asp3Glu Uncertain significance Single submitter
Cardiovascular phenotype
TNNI3 p.Asp3Tyr Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Asp7His Uncertain significance Single submitter
TNNI3 p.Gln156Glu Uncertain significance Single submitter
dilated cardiomyopathy 2A
TNNI3 p.Gln59Glu Uncertain significance Single submitter
cardiomyopathy
TNNI3 p.Gln99His Uncertain significance Single submitter
cardiomyopathy
TNNI3 p.Gln99Lys Uncertain significance Single submitter
Cardiovascular phenotype
TNNI3 p.Gln99Pro Uncertain significance Single submitter
Cardiovascular phenotype
TNNI3 p.Glu110Lys Uncertain significance Single submitter
cardiomyopathy
TNNI3 p.Glu124Lys Uncertain significance Single submitter
TNNI3 p.Glu165Gln Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Glu184Gln Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Glu187Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Glu32Gly Uncertain significance Single submitter
Cardiovascular phenotype
TNNI3 p.Glu66Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Glu66Gln Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Glu67Val Uncertain significance Single submitter
TNNI3 p.Glu92Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Gly160Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Gly189Glu Uncertain significance Single submitter
TNNI3 p.Gly200Val Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Gly4Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Gly73Ala Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Gly73Trp Uncertain significance Single submitter
cardiomyopathy
TNNI3 p.His34Asn Uncertain significance Single submitter
dilated cardiomyopathy
TNNI3 p.His34Gln Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Ile122Met Uncertain significance Single submitter
hypertrophic cardiomyopathy 1
TNNI3 p.Ile125Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Ile19Ser Uncertain significance Single submitter
cardiomyopathy
TNNI3 p.Ile56Val Uncertain significance Single submitter
hypertrophic cardiomyopathy

Predictors split 120

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

TNNI3 p.Ala153Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Arg103Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Arg103Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Arg103His Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Arg21Cys Pathogenic Multiple submitters
Cardiovascular phenotype
TNNI3 p.Arg27Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Arg27Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Arg27Pro Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Arg45Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Arg74Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Arg74Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Arg74Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Arg79Ser Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Arg98Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Arg98Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Asp127Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Asp180Gly Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Asp196Asn Pathogenic/Likely pathogenic Multiple submitters
Cardiovascular phenotype
TNNI3 p.Asp196Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Glu115Ala Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Glu202Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Glu62Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Glu64Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Gly200Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Gly87Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Ile195Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Leu100Phe Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Leu135Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Leu167Pro Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Leu96Trp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Lys178Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Lys178Glu Pathogenic Multiple submitters
TNNI3-related disorder
TNNI3 p.Lys183Asn Pathogenic Multiple submitters
familial hypertrophic cardiomyopathy
TNNI3 p.Lys193Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Lys40Met Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNI3 p.Pro82Arg Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Pro82Ser Benign/Likely benign Multiple submitters
Cardiovascular phenotype
TNNI3 p.Ser199Asn Pathogenic/Likely pathogenic Multiple submitters
Cardiovascular phenotype
TNNI3 p.Ser24Phe Uncertain significance Multiple submitters
cardiomyopathy
TNNI3 p.Ser77Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Tyr29Asp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNI3 p.Ala171Thr Conflicting Single submitter
TNNI3-related disorder
TNNI3 p.Ala171Val Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Ala43Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Ala43Pro Uncertain significance Single submitter
TNNI3 p.Ala43Thr Conflicting Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Arg186Trp Conflicting Single submitter
SUDDEN INFANT DEATH SYNDROME
TNNI3 p.Arg20Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Arg21His Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Arg21Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Arg63Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Arg69Cys Uncertain significance Single submitter
cardiomyopathy
TNNI3 p.Arg79Cys Conflicting Single submitter
Cardiovascular phenotype
TNNI3 p.Arg79Leu Conflicting Single submitter
Cardiovascular phenotype
TNNI3 p.Asn194Ser Conflicting Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Asn25Asp Uncertain significance Single submitter
cardiomyopathy
TNNI3 p.Asn25Ile Uncertain significance Single submitter
cardiomyopathy
TNNI3 p.Asn25Lys Uncertain significance Single submitter
cardiomyopathy
TNNI3 p.Asp134Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Asp152Glu Conflicting Single submitter
dilated cardiomyopathy 2A
TNNI3 p.Asp168Asn Conflicting Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Asp190Glu Uncertain significance Single submitter
TNNI3 p.Gln175Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Gln175His Uncertain significance Single submitter
TNNI3 p.Glu179Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Glu187Ala Uncertain significance Single submitter
Cardiovascular phenotype
TNNI3 p.Glu202Ala Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Glu202Gly Uncertain significance Single submitter
Cardiovascular phenotype
TNNI3 p.Glu209Ala Conflicting Single submitter
Cardiovascular phenotype
TNNI3 p.Glu209Lys Conflicting Single submitter
TNNI3-related disorder
TNNI3 p.Glu60Gln Uncertain significance Single submitter
Cardiovascular phenotype
TNNI3 p.Glu60Gly Uncertain significance Single submitter
cardiomyopathy
TNNI3 p.Glu62Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy 7
TNNI3 p.Glu71Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Gly189Ala Uncertain significance Single submitter
Cardiovascular phenotype
TNNI3 p.Gly203Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Gly203Cys Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Gly203Ser Pathogenic Single submitter
TNNI3-related disorder
TNNI3 p.Gly87Ala Uncertain significance Single submitter
cardiomyopathy
TNNI3 p.Ile195Met Conflicting Single submitter
TNNI3-related disorder
TNNI3 p.Ile41Phe Uncertain significance Single submitter
cardiomyopathy
TNNI3 p.Leu100Val Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Leu128Val Uncertain significance Single submitter
Cardiovascular phenotype
TNNI3 p.Leu52Val Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Leu83Arg Uncertain significance Single submitter
Cardiovascular phenotype
TNNI3 p.Leu83Pro Uncertain significance Single submitter
Cardiovascular phenotype
TNNI3 p.Leu93Met Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Leu96Phe Uncertain significance Single submitter
TNNI3 p.Lys140Arg Uncertain significance Single submitter
TNNI3 p.Lys140Gln Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Lys174Gln Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Lys177Asn Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Lys178Asn Uncertain significance Single submitter
Cardiovascular phenotype
TNNI3 p.Lys178Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Lys183Thr Pathogenic Single submitter
TNNI3 p.Lys205Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Lys205Gln Uncertain significance Single submitter
TNNI3 p.Lys206Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Lys206Ile Pathogenic Single submitter
TNNI3 p.Lys207Asn Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Lys38Asn Conflicting Single submitter
Cardiovascular phenotype
TNNI3 p.Lys40Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Lys58Thr Uncertain significance Single submitter
cardiomyopathy
TNNI3 p.Met154Ile Uncertain significance Single submitter
TNNI3 p.Met155Ile Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Met155Thr Uncertain significance Single submitter
dilated cardiomyopathy
TNNI3 p.Phe133Leu Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Pro82Gln Uncertain significance Single submitter
TNNI3 p.Pro82Leu Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Pro82Thr Uncertain significance Single submitter
cardiomyopathy
TNNI3 p.Ser199Arg Uncertain significance Single submitter
TNNI3 p.Ser23Phe Uncertain significance Single submitter
cardiomyopathy
TNNI3 p.Ser44Leu Uncertain significance Single submitter
Cardiovascular phenotype
TNNI3 p.Ser44Trp Conflicting Single submitter
Cardiovascular phenotype
TNNI3 p.Ser77Ile Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Thr119Asn Conflicting Single submitter
dilated cardiomyopathy 1FF
TNNI3 p.Tyr26Cys Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Val176Ala Uncertain significance Single submitter
hypertrophic cardiomyopathy
TNNI3 p.Lys206Gln Pathogenic No assertion criteria
hypertrophic cardiomyopathy 7
TNNI3 p.Ser166Pro Uncertain significance No assertion criteria
dilated cardiomyopathy

All TNNI3 variants

Pathogenic 26

p.Arg192His Expert panel hypertrophic cardiomyopathy
p.Arg145Gly Multiple submitters Cardiovascular phenotype
p.Arg21Cys Multiple submitters Cardiovascular phenotype ⚠
p.Lys178Glu Multiple submitters TNNI3-related disorder ⚠
p.Lys183Asn Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Arg170Pro Single submitter hypertrophic cardiomyopathy
p.Arg63Ter Single submitter hypertrophic cardiomyopathy
p.Gln94Ter Single submitter hypertrophic cardiomyopathy
p.Gln99Ter Single submitter dilated cardiomyopathy 2A
p.Glu64Ter Single submitter hypertrophic cardiomyopathy
p.Gly203Ser Single submitter TNNI3-related disorder ⚠
p.His34fs Single submitter hypertrophic cardiomyopathy
p.Ile19fs Single submitter hypertrophic cardiomyopathy
p.Leu52fs Single submitter hypertrophic cardiomyopathy
p.Lys183Glu Single submitter
p.Lys183Thr Single submitter ⚠
p.Lys206Glu Single submitter
p.Lys206Ile Single submitter ⚠
p.Pro33fs Single submitter hypertrophic cardiomyopathy
p.Ser44Ala Single submitter cardiomyopathy, familial restrictive, 1 ⚠
p.Asn185Lys No assertion criteria dilated cardiomyopathy 1FF ⚠
p.Asp190Gly No assertion criteria cardiomyopathy, familial restrictive, 1
p.Leu144Gln No assertion criteria cardiomyopathy, familial restrictive, 1
p.Lys183del No assertion criteria hypertrophic cardiomyopathy 7
p.Lys206Gln No assertion criteria hypertrophic cardiomyopathy 7 ⚠
p.Lys36Gln No assertion criteria dilated cardiomyopathy 1FF ⚠

Pathogenic/Likely pathogenic 16

p.Ala157Val Multiple submitters TNNI3-related disorder
p.Arg141Gln Multiple submitters Cardiovascular phenotype
p.Arg145Gln Multiple submitters TNNI3-related disorder
p.Arg145Trp Multiple submitters TNNI3-related disorder
p.Arg162Pro Multiple submitters Cardiovascular phenotype ⚠
p.Arg170Gln Multiple submitters Cardiovascular phenotype
p.Arg170Trp Multiple submitters restrictive cardiomyopathy
p.Arg186Gln Multiple submitters TNNI3-related disorder ⚠
p.Arg204Cys Multiple submitters cardiomyopathy
p.Arg204His Multiple submitters TNNI3-related disorder
p.Asp196Asn Multiple submitters Cardiovascular phenotype ⚠
p.Gln175Ter Multiple submitters Cardiovascular phenotype
p.Glu182Lys Multiple submitters cardiomyopathy
p.Leu198Val Multiple submitters Cardiovascular phenotype ⚠
p.Ser166Phe Multiple submitters Cardiovascular phenotype
p.Ser199Asn Multiple submitters Cardiovascular phenotype ⚠

Likely pathogenic 37

p.Arg162Gln Expert panel hypertrophic cardiomyopathy ⚠
p.Arg192Cys Expert panel hypertrophic cardiomyopathy
c.373-1G>T Multiple submitters hypertrophic cardiomyopathy
p.Glu179Gly Multiple submitters dilated cardiomyopathy 1FF
c.108+1G>A Single submitter hypertrophic cardiomyopathy
c.109-1G>C Single submitter hypertrophic cardiomyopathy
c.12-1G>A Single submitter hypertrophic cardiomyopathy
c.12-1G>T Single submitter hypertrophic cardiomyopathy
c.12-2A>G Single submitter hypertrophic cardiomyopathy
c.150+1G>T Single submitter hypertrophic cardiomyopathy
c.151-1G>A Single submitter hypertrophic cardiomyopathy 7
c.283-1G>A Single submitter hypertrophic cardiomyopathy
c.372+1G>A Single submitter hypertrophic cardiomyopathy
c.372+1G>T Single submitter hypertrophic cardiomyopathy
c.373-1G>C Single submitter hypertrophic cardiomyopathy
p.Ala157Glu Single submitter dilated cardiomyopathy 1FF
p.Arg146Ser Single submitter hypertrophic cardiomyopathy 1
p.Arg186Gly Single submitter hypertrophic cardiomyopathy ⚠
p.Arg192Pro Single submitter hypertrophic cardiomyopathy
p.Arg204Leu Single submitter cardiomyopathy
p.Asn194Lys Single submitter
p.Asp190Tyr Single submitter hypertrophic cardiomyopathy
p.Gln175Pro Single submitter hypertrophic cardiomyopathy
p.Glu209Ter Single submitter familial restrictive cardiomyopathy
p.Gly137Ser Single submitter hypertrophic cardiomyopathy
p.His172Asp Single submitter
p.Leu135Pro Single submitter hypertrophic cardiomyopathy
p.Leu144Pro Single submitter hypertrophic cardiomyopathy
p.Lys138Asn Single submitter Cardiovascular phenotype
p.Lys174Thr Single submitter
p.Lys183Ter Single submitter hypertrophic cardiomyopathy
p.Lys193Asn Single submitter
p.Met154Thr Single submitter TNNI3-related disorder
p.Trp191Arg Single submitter TNNI3-related disorder
p.Arg192Leu No assertion criteria hypertrophic cardiomyopathy
p.Asp127Tyr No assertion criteria cardiomyopathy, familial restrictive, 1
p.Glu184Lys No assertion criteria dilated cardiomyopathy ⚠

Conflicting classifications of pathogenicity 80

c.108+2T>G Single submitter cardiomyopathy, familial restrictive, 1
c.109-15A>G Single submitter Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
c.109-7C>G Single submitter cardiomyopathy
c.11+1G>T Single submitter hypertrophic cardiomyopathy
c.12-7del Single submitter cardiomyopathy
c.150+1G>C Single submitter hypertrophic cardiomyopathy
c.151-6C>G Single submitter Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
c.24+2T>A Single submitter hypertrophic cardiomyopathy
c.24+6A>G Single submitter cardiomyopathy
c.25-7A>C Single submitter hypertrophic cardiomyopathy
c.282+2T>A Single submitter hypertrophic cardiomyopathy
c.282+6G>C Single submitter cardiomyopathy
c.283-9C>T Single submitter Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
c.372+7C>T Single submitter Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
c.373-10= Single submitter Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
c.373-11T>C Single submitter cardiomyopathy
c.373-15C>G Single submitter Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
c.373-4C>G Single submitter Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
c.549+68_549+69insGGCCTA Single submitter familial hypertrophic cardiomyopathy
c.-47C>T Single submitter Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
c.-8G>A Single submitter cardiomyopathy
c.-98C>A Single submitter Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
c.*35C>T Single submitter Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
p.Ala102Thr Single submitter Cardiovascular phenotype ⚠
p.Ala15= Single submitter hypertrophic cardiomyopathy
p.Ala163Val Single submitter hypertrophic cardiomyopathy ⚠
p.Ala171Thr Single submitter TNNI3-related disorder ⚠
p.Ala2Val Single submitter Cardiovascular phenotype ⚠
p.Ala43Thr Single submitter hypertrophic cardiomyopathy ⚠
p.Ala43Val Single submitter TNNI3-related disorder ⚠
p.Arg10Gly Single submitter cardiomyopathy ⚠
p.Arg111fs Single submitter hypertrophic cardiomyopathy
p.Arg136Gln Single submitter Cardiovascular phenotype ⚠
p.Arg136Ter Single submitter cardiomyopathy
p.Arg141Trp Single submitter Cardiovascular phenotype ⚠
p.Arg162Leu Single submitter cardiomyopathy
p.Arg170Gly Single submitter cardiomyopathy, familial restrictive, 1 ⚠
p.Arg186Trp Single submitter SUDDEN INFANT DEATH SYNDROME ⚠
p.Arg69fs Single submitter familial dilated cardiomyopathy
p.Arg79Cys Single submitter Cardiovascular phenotype ⚠
p.Arg79Leu Single submitter Cardiovascular phenotype ⚠
p.Arg98Ter Single submitter Cardiovascular phenotype
p.Asn185Ser Single submitter Cardiovascular phenotype ⚠
p.Asn194Ser Single submitter hypertrophic cardiomyopathy ⚠
p.Asp152Glu Single submitter dilated cardiomyopathy 2A ⚠
p.Asp152Gly Single submitter hypertrophic cardiomyopathy 7 ⚠
p.Asp168Asn Single submitter hypertrophic cardiomyopathy ⚠
p.Glu124Gln Single submitter TNNI3-related disorder ⚠
p.Glu165Ter Single submitter hypertrophic cardiomyopathy
p.Glu179= Single submitter Cardiovascular phenotype
p.Glu179del Single submitter hypertrophic cardiomyopathy
p.Glu209Ala Single submitter Cardiovascular phenotype ⚠
p.Glu209Lys Single submitter TNNI3-related disorder ⚠
p.Glu62Ter Single submitter dilated cardiomyopathy 1FF
p.Gly4= Single submitter hypertrophic cardiomyopathy
p.Gly4Glu Single submitter hypertrophic cardiomyopathy ⚠
p.His101Arg Single submitter hypertrophic cardiomyopathy 7 ⚠
p.Ile114Val Single submitter Cardiovascular phenotype ⚠
p.Ile195Met Single submitter TNNI3-related disorder ⚠
p.Ile19Val Single submitter cardiomyopathy ⚠
p.Leu47= Single submitter Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
p.Leu53= Single submitter Cardiovascular phenotype
p.Leu88fs Single submitter Cardiovascular phenotype
p.Lys178del Single submitter TNNI3-related disorder
p.Lys38Asn Single submitter Cardiovascular phenotype ⚠
p.Lys38fs Single submitter cardiomyopathy
p.Lys50= Single submitter Cardiovascular phenotype
p.Lys50fs Single submitter cardiomyopathy
p.Lys58Arg Single submitter Cardiovascular phenotype ⚠
p.Ser199Cys Single submitter Cardiovascular phenotype ⚠
p.Ser39fs Single submitter cardiomyopathy
p.Ser44Trp Single submitter Cardiovascular phenotype ⚠
p.Ser5Arg Single submitter cardiomyopathy ⚠
p.Thr119Asn Single submitter dilated cardiomyopathy 1FF ⚠
p.Thr143Asn Single submitter Cardiovascular phenotype ⚠
p.Tyr112Ter Single submitter hypertrophic cardiomyopathy
p.Tyr29Ter Single submitter
p.Val176Met Single submitter TNNI3-related disorder ⚠
p.Val188Gly Single submitter hypertrophic cardiomyopathy 7 ⚠
p.Val188Met Single submitter Cardiovascular phenotype ⚠

Benign 20

c.108+108G>C Multiple submitters
c.108+182C>G Multiple submitters
c.108+21G>A Multiple submitters
c.109-132A>G Multiple submitters
c.109-185A>C Multiple submitters
c.11+128T>C Multiple submitters
c.11+99C>G Multiple submitters
c.12-129A>G Multiple submitters
c.151-106A>G Multiple submitters
c.373-115G>C Multiple submitters
c.109-37C>T Single submitter
c.12-50_12-47dup Single submitter
c.549+128A>C Single submitter
c.549+211A>G Single submitter
c.550-256_550-255del Single submitter
c.-103C>T Single submitter
c.-17C>A Single submitter
c.-60G>A Single submitter
c.-85A>C Single submitter
c.*16G>A Single submitter

Benign/Likely benign 13

c.109-17C>A Multiple submitters cardiomyopathy, familial restrictive, 1
c.150+13G>A Multiple submitters cardiomyopathy
c.25-4C>T Multiple submitters Cardiovascular phenotype
c.25-8T>A Multiple submitters cardiomyopathy
c.282+16_282+17delinsTT Multiple submitters hypertrophic cardiomyopathy
c.373-15del Multiple submitters cardiomyopathy
c.550-10C>T Multiple submitters cardiomyopathy
c.550-14T>C Multiple submitters cardiomyopathy
c.-35C>A Multiple submitters hypertrophic cardiomyopathy 7
p.Glu66= Multiple submitters Cardiovascular phenotype
p.Gly203= Multiple submitters hypertrophic cardiomyopathy
p.Pro82Ser Multiple submitters Cardiovascular phenotype ⚠
p.Tyr112= Multiple submitters cardiomyopathy

Likely benign 232

c.108+17T>G Multiple submitters hypertrophic cardiomyopathy
c.108+59A>G Multiple submitters
c.108+8G>T Multiple submitters hypertrophic cardiomyopathy
c.109-11C>T Multiple submitters hypertrophic cardiomyopathy
c.109-170G>A Multiple submitters
c.12-15T>C Multiple submitters hypertrophic cardiomyopathy
c.12-4C>T Multiple submitters cardiomyopathy
c.12-8C>T Multiple submitters hypertrophic cardiomyopathy
c.150+9G>T Multiple submitters hypertrophic cardiomyopathy
c.151-13C>T Multiple submitters cardiomyopathy
c.151-15C>T Multiple submitters hypertrophic cardiomyopathy
c.24+19G>A Multiple submitters hypertrophic cardiomyopathy
c.25-12C>G Multiple submitters hypertrophic cardiomyopathy
c.25-13C>T Multiple submitters cardiomyopathy
c.25-15C>A Multiple submitters cardiomyopathy
c.283-13G>A Multiple submitters hypertrophic cardiomyopathy
c.283-13G>T Multiple submitters hypertrophic cardiomyopathy
c.283-14C>T Multiple submitters cardiomyopathy
c.283-19C>G Multiple submitters hypertrophic cardiomyopathy
c.283-5T>C Multiple submitters hypertrophic cardiomyopathy
c.372+19T>C Multiple submitters hypertrophic cardiomyopathy
c.372+20C>T Multiple submitters hypertrophic cardiomyopathy
c.372+8G>A Multiple submitters hypertrophic cardiomyopathy
c.372+8G>T Multiple submitters hypertrophic cardiomyopathy
c.373-12G>A Multiple submitters cardiomyopathy
c.373-13C>T Multiple submitters cardiomyopathy
c.373-14del Multiple submitters cardiomyopathy
c.373-15C>T Multiple submitters hypertrophic cardiomyopathy
c.373-16C>T Multiple submitters dilated cardiomyopathy 1FF
c.373-17C>T Multiple submitters hypertrophic cardiomyopathy
c.373-18C>A Multiple submitters hypertrophic cardiomyopathy
c.373-8G>A Multiple submitters cardiomyopathy
c.550-112T>C Multiple submitters
c.550-12G>A Multiple submitters cardiomyopathy
c.550-13C>T Multiple submitters cardiomyopathy
c.*3C>T Multiple submitters cardiomyopathy
p.Ala116= Multiple submitters cardiomyopathy
p.Ala157= Multiple submitters Cardiovascular phenotype
p.Ala65= Multiple submitters Cardiovascular phenotype
p.Ala86= Multiple submitters Cardiovascular phenotype
p.Arg103= Multiple submitters cardiomyopathy
p.Arg13= Multiple submitters Cardiovascular phenotype
p.Arg20= Multiple submitters cardiomyopathy
p.Arg21= Multiple submitters hypertrophic cardiomyopathy
p.Arg27= Multiple submitters hypertrophic cardiomyopathy
p.Arg68= Multiple submitters hypertrophic cardiomyopathy
p.Arg69= Multiple submitters hypertrophic cardiomyopathy
p.Arg98= Multiple submitters Cardiovascular phenotype
p.Asn121= Multiple submitters cardiomyopathy
p.Asp113= Multiple submitters Cardiovascular phenotype
p.Asp190= Multiple submitters hypertrophic cardiomyopathy
p.Asp196= Multiple submitters hypertrophic cardiomyopathy
p.Asp3= Multiple submitters hypertrophic cardiomyopathy
p.Glu110= Multiple submitters cardiomyopathy
p.Glu115= Multiple submitters hypertrophic cardiomyopathy
p.Glu165= Multiple submitters cardiomyopathy
p.Glu202= Multiple submitters hypertrophic cardiomyopathy
p.Glu67= Multiple submitters Cardiovascular phenotype
p.Glu71= Multiple submitters hypertrophic cardiomyopathy
p.Gly189= Multiple submitters cardiomyopathy
p.His101= Multiple submitters Cardiovascular phenotype
p.His172= Multiple submitters hypertrophic cardiomyopathy
p.Ile195= Multiple submitters hypertrophic cardiomyopathy
p.Leu100= Multiple submitters Cardiovascular phenotype
p.Leu128= Multiple submitters cardiomyopathy
p.Leu144= Multiple submitters Cardiovascular phenotype
p.Leu158= Multiple submitters Cardiovascular phenotype
p.Leu173= Multiple submitters Cardiovascular phenotype
p.Lys106= Multiple submitters hypertrophic cardiomyopathy
p.Lys174= Multiple submitters Cardiovascular phenotype
p.Phe139= Multiple submitters Cardiovascular phenotype
p.Pro142= Multiple submitters hypertrophic cardiomyopathy
p.Pro33= Multiple submitters Cardiovascular phenotype
p.Ser150= Multiple submitters Cardiovascular phenotype
p.Ser42= Multiple submitters cardiomyopathy
p.Ser44= Multiple submitters dilated cardiomyopathy 1FF
p.Thr119= Multiple submitters cardiomyopathy
p.Thr123= Multiple submitters hypertrophic cardiomyopathy
p.Thr31= Multiple submitters cardiomyopathy
p.Thr51= Multiple submitters cardiomyopathy
p.Val118= Multiple submitters cardiomyopathy
c.108+10G>A Single submitter hypertrophic cardiomyopathy
c.108+11G>A Single submitter hypertrophic cardiomyopathy
c.108+17T>A Single submitter hypertrophic cardiomyopathy
c.108+18G>A Single submitter hypertrophic cardiomyopathy
c.108+20G>A Single submitter hypertrophic cardiomyopathy
c.108+20G>C Single submitter hypertrophic cardiomyopathy
c.108+4G>A Single submitter
c.108+8G>C Single submitter hypertrophic cardiomyopathy
c.109-11C>A Single submitter hypertrophic cardiomyopathy
c.109-12T>C Single submitter cardiomyopathy
c.109-13C>G Single submitter
c.109-15A>C Single submitter cardiomyopathy
c.109-17C>T Single submitter hypertrophic cardiomyopathy
c.109-20G>C Single submitter
c.109-8C>T Single submitter hypertrophic cardiomyopathy
c.109-9C>T Single submitter hypertrophic cardiomyopathy
c.11+10G>T Single submitter hypertrophic cardiomyopathy
c.11+11C>A Single submitter hypertrophic cardiomyopathy
c.11+11C>T Single submitter hypertrophic cardiomyopathy
c.11+12C>T Single submitter hypertrophic cardiomyopathy
c.11+13C>G Single submitter hypertrophic cardiomyopathy
c.11+18G>A Single submitter hypertrophic cardiomyopathy
c.11+7G>A Single submitter hypertrophic cardiomyopathy
c.11+8A>G Single submitter hypertrophic cardiomyopathy
c.11+9T>C Single submitter hypertrophic cardiomyopathy
c.12-14T>G Single submitter hypertrophic cardiomyopathy
c.12-5T>C Single submitter hypertrophic cardiomyopathy
c.12-6T>C Single submitter cardiomyopathy
c.150+10G>C Single submitter hypertrophic cardiomyopathy
c.150+11G>A Single submitter hypertrophic cardiomyopathy
c.150+11G>C Single submitter hypertrophic cardiomyopathy
c.150+12C>A Single submitter hypertrophic cardiomyopathy
c.150+12C>T Single submitter hypertrophic cardiomyopathy
c.150+13G>T Single submitter
c.150+14G>A Single submitter hypertrophic cardiomyopathy
c.150+15G>C Single submitter hypertrophic cardiomyopathy
c.150+7_150+105del Single submitter hypertrophic cardiomyopathy
c.150+7A>G Single submitter hypertrophic cardiomyopathy
c.150+7A>T Single submitter hypertrophic cardiomyopathy
c.150+9G>A Single submitter hypertrophic cardiomyopathy
c.151-12A>C Single submitter cardiomyopathy
c.151-14C>T Single submitter hypertrophic cardiomyopathy
c.151-17C>G Single submitter hypertrophic cardiomyopathy
c.151-18C>T Single submitter hypertrophic cardiomyopathy
c.151-19C>G Single submitter hypertrophic cardiomyopathy
c.151-6C>T Single submitter hypertrophic cardiomyopathy
c.151-8C>T Single submitter hypertrophic cardiomyopathy
c.24+10G>C Single submitter hypertrophic cardiomyopathy
c.24+11C>A Single submitter hypertrophic cardiomyopathy
c.24+20_24+34del Single submitter hypertrophic cardiomyopathy
c.24+20G>T Single submitter hypertrophic cardiomyopathy
c.24+7G>T Single submitter hypertrophic cardiomyopathy
c.25-15C>T Single submitter hypertrophic cardiomyopathy
c.25-16A>C Single submitter hypertrophic cardiomyopathy
c.25-16A>G Single submitter hypertrophic cardiomyopathy
c.25-19C>T Single submitter hypertrophic cardiomyopathy
c.25-20C>A Single submitter hypertrophic cardiomyopathy
c.25-9C>T Single submitter hypertrophic cardiomyopathy
c.282+10C>G Single submitter hypertrophic cardiomyopathy
c.282+14A>T Single submitter hypertrophic cardiomyopathy
c.282+15G>A Single submitter hypertrophic cardiomyopathy
c.282+19G>A Single submitter hypertrophic cardiomyopathy
c.282+20C>G Single submitter hypertrophic cardiomyopathy
c.283-19C>A Single submitter hypertrophic cardiomyopathy
c.283-202G>T Single submitter
c.283-221C>G Single submitter
c.372+10A>G Single submitter hypertrophic cardiomyopathy
c.372+10A>T Single submitter hypertrophic cardiomyopathy
c.372+11T>G Single submitter hypertrophic cardiomyopathy
c.372+15C>G Single submitter hypertrophic cardiomyopathy
c.372+17G>T Single submitter hypertrophic cardiomyopathy
c.372+18_372+21del Single submitter hypertrophic cardiomyopathy
c.372+18C>T Single submitter
c.372+200C>G Single submitter
c.372+26C>T Single submitter
c.372+8G>C Single submitter hypertrophic cardiomyopathy
c.373-12G>T Single submitter hypertrophic cardiomyopathy
c.373-18C>T Single submitter hypertrophic cardiomyopathy
c.373-19C>G Single submitter hypertrophic cardiomyopathy
c.373-43G>A Single submitter
c.373-4C>T Single submitter Cardiovascular phenotype
c.373-7C>T Single submitter hypertrophic cardiomyopathy
c.373-8G>C Single submitter hypertrophic cardiomyopathy
c.549+10G>A Single submitter hypertrophic cardiomyopathy
c.549+11G>T Single submitter hypertrophic cardiomyopathy
c.549+16G>A Single submitter
c.549+267T>A Single submitter
c.550-106_550-105insAGAC Single submitter
c.550-12G>T Single submitter cardiomyopathy
c.550-157T>A Single submitter
c.550-6C>T Single submitter hypertrophic cardiomyopathy
c.550-8T>A Single submitter hypertrophic cardiomyopathy
p.Ala17= Single submitter hypertrophic cardiomyopathy
p.Ala2= Single submitter hypertrophic cardiomyopathy
p.Ala28= Single submitter hypertrophic cardiomyopathy
p.Ala35= Single submitter
p.Ala43= Single submitter cardiomyopathy
p.Ala75= Single submitter
p.Ala91= Single submitter hypertrophic cardiomyopathy
p.Arg145= Single submitter hypertrophic cardiomyopathy
p.Arg148= Single submitter Cardiovascular phenotype
p.Arg162= Single submitter hypertrophic cardiomyopathy
p.Arg170= Single submitter cardiomyopathy
p.Arg186= Single submitter hypertrophic cardiomyopathy
p.Arg204= Single submitter cardiomyopathy
p.Arg22= Single submitter hypertrophic cardiomyopathy
p.Asn194= Single submitter hypertrophic cardiomyopathy
p.Asp105= Single submitter hypertrophic cardiomyopathy
p.Asp127= Single submitter hypertrophic cardiomyopathy
p.Asp134= Single submitter cardiomyopathy
p.Asp152= Single submitter hypertrophic cardiomyopathy
p.Asp168= Single submitter cardiomyopathy
p.Asp7= Single submitter hypertrophic cardiomyopathy
p.Gln175= Single submitter Cardiovascular phenotype
p.Glu182= Single submitter hypertrophic cardiomyopathy
p.Glu32= Single submitter hypertrophic cardiomyopathy
p.Gly73= Single submitter hypertrophic cardiomyopathy
p.Gly87= Single submitter hypertrophic cardiomyopathy
p.Gly89= Single submitter hypertrophic cardiomyopathy
p.Ile149= Single submitter hypertrophic cardiomyopathy
p.Ile19= Single submitter Cardiovascular phenotype
p.Leu159= Single submitter hypertrophic cardiomyopathy
p.Leu169= Single submitter
p.Leu198= Single submitter
p.Leu52= Single submitter hypertrophic cardiomyopathy
p.Leu54= Single submitter hypertrophic cardiomyopathy
p.Leu76= Single submitter
p.Leu83= Single submitter hypertrophic cardiomyopathy
p.Leu88= Single submitter
p.Leu93= Single submitter cardiomyopathy
p.Leu96= Single submitter cardiomyopathy
p.Lys120= Single submitter hypertrophic cardiomyopathy
p.Lys206= Single submitter
p.Lys37= Single submitter hypertrophic cardiomyopathy
p.Lys38= Single submitter cardiomyopathy
p.Lys40= Single submitter cardiomyopathy
p.Lys46= Single submitter Cardiovascular phenotype
p.Pro14= Single submitter hypertrophic cardiomyopathy
p.Pro82= Single submitter hypertrophic cardiomyopathy
p.Ser166= Single submitter Cardiovascular phenotype
p.Ser199= Single submitter
p.Ser23= Single submitter Cardiovascular phenotype
p.Ser6= Single submitter hypertrophic cardiomyopathy
p.Ser6Gly Single submitter Cardiovascular phenotype
p.Ser77= Single submitter hypertrophic cardiomyopathy
p.Thr181= Single submitter hypertrophic cardiomyopathy
p.Thr78= Single submitter cardiomyopathy
p.Tyr26= Single submitter hypertrophic cardiomyopathy
p.Tyr29= Single submitter hypertrophic cardiomyopathy
p.Val147= Single submitter cardiomyopathy
p.Val188= Single submitter cardiomyopathy

Uncertain significance 396

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

p.Arg162Trp Expert panel hypertrophic cardiomyopathy ⚠
p.Lys106Asn Expert panel hypertrophic cardiomyopathy
c.108+4G>T Multiple submitters dilated cardiomyopathy 1FF
c.108+5G>A Multiple submitters Cardiovascular phenotype
c.109-14T>A Multiple submitters hypertrophic cardiomyopathy
c.109-6T>G Multiple submitters cardiomyopathy
c.24+5G>C Multiple submitters hypertrophic cardiomyopathy
c.25-10_25-8del Multiple submitters cardiomyopathy
c.25-3C>A Multiple submitters hypertrophic cardiomyopathy
c.282+5C>G Multiple submitters Cardiovascular phenotype
c.282+5C>T Multiple submitters hypertrophic cardiomyopathy
c.372+4G>A Multiple submitters hypertrophic cardiomyopathy
c.372+4G>T Multiple submitters hypertrophic cardiomyopathy
c.373-11T>A Multiple submitters cardiomyopathy
c.549+4_549+7del Multiple submitters Cardiovascular phenotype
c.550-1G>A Multiple submitters hypertrophic cardiomyopathy 7
c.550-2A>T Multiple submitters hypertrophic cardiomyopathy
c.-15G>A Multiple submitters hypertrophic cardiomyopathy
c.-45C>T Multiple submitters Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
c.-4C>T Multiple submitters hypertrophic cardiomyopathy
p.Ala116Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ala116Val Multiple submitters cardiomyopathy ⚠
p.Ala151Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala153Asp Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala153Val Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala161Val Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala28Ser Multiple submitters cardiomyopathy ⚠
p.Ala30Thr Multiple submitters Cardiovascular phenotype
p.Ala35Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala43Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala65Val Multiple submitters dilated cardiomyopathy ⚠
p.Ala91Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ala9Val Multiple submitters Cardiovascular phenotype ⚠
p.Arg103Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg103Gly Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg103His Multiple submitters Cardiovascular phenotype ⚠
p.Arg103Leu Multiple submitters cardiomyopathy ⚠
p.Arg103Ser Multiple submitters cardiomyopathy ⚠
p.Arg10Ser Multiple submitters cardiomyopathy ⚠
p.Arg111Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg141Gly Multiple submitters cardiomyopathy ⚠
p.Arg141Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg22Gly Multiple submitters cardiomyopathy
p.Arg22His Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg22Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg27Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg27Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg27Pro Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg45Lys Multiple submitters Cardiovascular phenotype ⚠
p.Arg63Gln Multiple submitters cardiomyopathy ⚠
p.Arg69His Multiple submitters hypertrophic cardiomyopathy ⚠
p.Arg74Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg74Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg74Pro Multiple submitters dilated cardiomyopathy 1FF ⚠
p.Arg74Ser Multiple submitters Cardiovascular phenotype ⚠
p.Arg79Ser Multiple submitters cardiomyopathy ⚠
p.Arg98Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg98Gly Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asn194Thr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp108Asn Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp113Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp127Gly Multiple submitters hypertrophic cardiomyopathy ⚠
p.Asp180Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp180fs Multiple submitters hypertrophic cardiomyopathy
p.Asp180Gly Multiple submitters cardiomyopathy ⚠
p.Asp196Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp196His Multiple submitters hypertrophic cardiomyopathy 7 ⚠
p.Asp196Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Asp7Asn Multiple submitters cardiomyopathy ⚠
p.Cys80Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Gln130Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln48Pro Multiple submitters Cardiovascular phenotype ⚠
p.Gln55Pro Multiple submitters Cardiovascular phenotype ⚠
p.Glu115Ala Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu187Gln Multiple submitters Cardiovascular phenotype
p.Glu187Lys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu202Gln Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu62Lys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu64Gln Multiple submitters hypertrophic cardiomyopathy ⚠
p.Glu66Gly Multiple submitters cardiomyopathy ⚠
p.Glu66Lys Multiple submitters cardiomyopathy ⚠
p.Glu67del Multiple submitters hypertrophic cardiomyopathy
p.Glu92Lys Multiple submitters Cardiovascular phenotype ⚠
p.Gly137Asp Multiple submitters Cardiovascular phenotype ⚠
p.Gly200Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gly70Arg Multiple submitters cardiomyopathy ⚠
p.Gly73Arg Multiple submitters cardiomyopathy ⚠
p.Gly87Arg Multiple submitters hypertrophic cardiomyopathy ⚠
p.His101Gln Multiple submitters Cardiovascular phenotype ⚠
p.His172Tyr Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ile114Thr Multiple submitters cardiomyopathy ⚠
p.Ile125Phe Multiple submitters Cardiovascular phenotype ⚠
p.Ile195Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ile19Leu Multiple submitters cardiomyopathy ⚠
p.Ile41Asn Multiple submitters cardiomyopathy ⚠
p.Ile41Met Multiple submitters hypertrophic cardiomyopathy
p.Ile41Val Multiple submitters cardiomyopathy
p.Ile56Met Multiple submitters Cardiovascular phenotype ⚠
p.Ile56Thr Multiple submitters Cardiovascular phenotype ⚠
p.Leu100Phe Multiple submitters cardiomyopathy ⚠
p.Leu135Ile Multiple submitters Cardiovascular phenotype ⚠
p.Leu135Phe Multiple submitters hypertrophic cardiomyopathy ⚠
p.Leu167Pro Multiple submitters cardiomyopathy ⚠
p.Leu49Gln Multiple submitters Cardiovascular phenotype ⚠
p.Leu53Gly Multiple submitters hypertrophic cardiomyopathy
p.Leu76Pro Multiple submitters Cardiovascular phenotype ⚠
p.Leu93Pro Multiple submitters Cardiovascular phenotype ⚠
p.Leu96Trp Multiple submitters hypertrophic cardiomyopathy ⚠
p.Lys131del Multiple submitters hypertrophic cardiomyopathy
p.Lys164Asn Multiple submitters Cardiovascular phenotype ⚠
p.Lys178Arg Multiple submitters hypertrophic cardiomyopathy ⚠
p.Lys193Arg Multiple submitters hypertrophic cardiomyopathy ⚠
p.Lys193Glu Multiple submitters Cardiovascular phenotype ⚠
p.Lys205Thr Multiple submitters Cardiovascular phenotype ⚠
p.Lys207Arg Multiple submitters cardiomyopathy ⚠
p.Lys40Met Multiple submitters Cardiovascular phenotype ⚠
p.Met155Val Multiple submitters hypertrophic cardiomyopathy
p.Met201Thr Multiple submitters Cardiovascular phenotype ⚠
p.Met201Val Multiple submitters cardiomyopathy ⚠
p.Phe139Cys Multiple submitters cardiomyopathy ⚠
p.Pro12Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Pro12Ser Multiple submitters cardiomyopathy ⚠
p.Pro142His Multiple submitters hypertrophic cardiomyopathy ⚠
p.Pro142Leu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Pro14Ala Multiple submitters hypertrophic cardiomyopathy ⚠
p.Pro82Arg Multiple submitters cardiomyopathy ⚠
p.Ser166Cys Multiple submitters Cardiovascular phenotype ⚠
p.Ser210Asn Multiple submitters cardiomyopathy ⚠
p.Ser23Pro Multiple submitters hypertrophic cardiomyopathy
p.Ser24Phe Multiple submitters cardiomyopathy ⚠
p.Ser24Thr Multiple submitters cardiomyopathy ⚠
p.Ser39Cys Multiple submitters cardiomyopathy ⚠
p.Ser39Pro Multiple submitters Cardiovascular phenotype ⚠
p.Ser42Phe Multiple submitters Cardiovascular phenotype ⚠
p.Ser42Pro Multiple submitters Cardiovascular phenotype
p.Ser5Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ser77Cys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Ter211Leu Multiple submitters Cardiovascular phenotype
p.Thr119Ile Multiple submitters Cardiovascular phenotype ⚠
p.Thr123Met Multiple submitters Cardiovascular phenotype ⚠
p.Thr181Ala Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr31Ala Multiple submitters cardiomyopathy ⚠
p.Thr31Met Multiple submitters Cardiovascular phenotype ⚠
p.Thr51Ile Multiple submitters Cardiovascular phenotype
p.Thr78Ile Multiple submitters cardiomyopathy ⚠
p.Tyr29Asp Multiple submitters hypertrophic cardiomyopathy ⚠
p.Val107Leu Multiple submitters hypertrophic cardiomyopathy
p.Val147Leu Multiple submitters dilated cardiomyopathy 2A ⚠
p.Val176Leu Multiple submitters hypertrophic cardiomyopathy ⚠
c.108+6A>G Single submitter cardiomyopathy
c.11+1G>A Single submitter Cardiovascular phenotype
c.11+1G>C Single submitter cardiomyopathy
c.11+4A>G Single submitter Cardiovascular phenotype
c.12-10C>G Single submitter hypertrophic cardiomyopathy
c.150+8C>T Single submitter cardiomyopathy
c.151-6C>A Single submitter TNNI3-related disorder
c.24+2T>C Single submitter
c.24+3G>A Single submitter hypertrophic cardiomyopathy
c.24+3G>T Single submitter hypertrophic cardiomyopathy
c.25-14T>A Single submitter hypertrophic cardiomyopathy
c.25-1G>A Single submitter hypertrophic cardiomyopathy
c.25-6A>G Single submitter hypertrophic cardiomyopathy
c.283-10C>A Single submitter cardiomyopathy
c.283-6C>T Single submitter
c.371_372+4del Single submitter cardiomyopathy
c.372+2T>A Single submitter Cardiovascular phenotype
c.372+3G>A Single submitter hypertrophic cardiomyopathy
c.372+4G>C Single submitter Cardiovascular phenotype
c.536_549+1del Single submitter hypertrophic cardiomyopathy
c.549+4A>T Single submitter hypertrophic cardiomyopathy
c.549+5G>A Single submitter hypertrophic cardiomyopathy
c.550-11C>T Single submitter Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
c.-13C>A Single submitter cardiomyopathy
c.-15G>T Single submitter hypertrophic cardiomyopathy
c.*2C>T Single submitter hypertrophic cardiomyopathy
c.*3C>G Single submitter cardiomyopathy
c.*44A>G Single submitter cardiomyopathy, familial restrictive, 1
p.Ala102Asp Single submitter hypertrophic cardiomyopathy ⚠
p.Ala116Thr Single submitter cardiomyopathy ⚠
p.Ala126Thr Single submitter hypertrophic cardiomyopathy ⚠
p.Ala161fs Single submitter hypertrophic cardiomyopathy
p.Ala161Pro Single submitter hypertrophic cardiomyopathy ⚠
p.Ala163fs Single submitter hypertrophic cardiomyopathy
p.Ala163Gly Single submitter ⚠
p.Ala163Pro Single submitter hypertrophic cardiomyopathy ⚠
p.Ala171Val Single submitter hypertrophic cardiomyopathy ⚠
p.Ala17fs Single submitter cardiomyopathy
p.Ala28Thr Single submitter hypertrophic cardiomyopathy ⚠
p.Ala28Val Single submitter hypertrophic cardiomyopathy ⚠
p.Ala2Glu Single submitter hypertrophic cardiomyopathy ⚠
p.Ala2Pro Single submitter hypertrophic cardiomyopathy ⚠
p.Ala35Asp Single submitter dilated cardiomyopathy 2A ⚠
p.Ala35Thr Single submitter hypertrophic cardiomyopathy ⚠
p.Ala43_Ser44del Single submitter hypertrophic cardiomyopathy
p.Ala43Gly Single submitter hypertrophic cardiomyopathy ⚠
p.Ala43Pro Single submitter ⚠
p.Ala75Ser Single submitter cardiomyopathy ⚠
p.Ala75Val Single submitter ⚠
p.Ala8Gly Single submitter dilated cardiomyopathy 1FF ⚠
p.Ala8Met Single submitter Cardiovascular phenotype
p.Ala8Thr Single submitter Cardiovascular phenotype ⚠
p.Ala91Val Single submitter hypertrophic cardiomyopathy ⚠
p.Ala9Gly Single submitter Cardiovascular phenotype ⚠
p.Ala9Thr Single submitter ⚠
p.Arg103Pro Single submitter hypertrophic cardiomyopathy ⚠
p.Arg10fs Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
p.Arg111Ile Single submitter hypertrophic cardiomyopathy ⚠
p.Arg136Gly Single submitter Cardiovascular phenotype ⚠
p.Arg136Pro Single submitter hypertrophic cardiomyopathy ⚠
p.Arg13His Single submitter ⚠
p.Arg145_Arg146dup Single submitter hypertrophic cardiomyopathy
p.Arg145Leu Single submitter hypertrophic cardiomyopathy ⚠
p.Arg162_Ala171del Single submitter hypertrophic cardiomyopathy
p.Arg162Gly Single submitter hypertrophic cardiomyopathy ⚠
p.Arg192fs Single submitter cardiomyopathy, familial restrictive, 1
p.Arg204Ser Single submitter hypertrophic cardiomyopathy ⚠
p.Arg20Ser Single submitter hypertrophic cardiomyopathy ⚠
p.Arg21His Single submitter hypertrophic cardiomyopathy ⚠
p.Arg21Ser Single submitter hypertrophic cardiomyopathy ⚠
p.Arg22Pro Single submitter Cardiovascular phenotype ⚠
p.Arg27His Single submitter hypertrophic cardiomyopathy
p.Arg63Gly Single submitter hypertrophic cardiomyopathy ⚠
p.Arg69Cys Single submitter cardiomyopathy ⚠
p.Arg69Ser Single submitter hypertrophic cardiomyopathy ⚠
p.Arg79delinsGlyAlaLeuTer Single submitter cardiomyopathy
p.Arg79fs Single submitter cardiomyopathy
p.Asn121Ile Single submitter cardiomyopathy ⚠
p.Asn185Ile Single submitter cardiomyopathy ⚠
p.Asn185Tyr Single submitter ⚠
p.Asn194Asp Single submitter hypertrophic cardiomyopathy ⚠
p.Asn25Asp Single submitter cardiomyopathy ⚠
p.Asn25Ile Single submitter cardiomyopathy ⚠
p.Asn25Lys Single submitter cardiomyopathy ⚠
p.Asn25Ser Single submitter ⚠
p.Asn25Thr Single submitter hypertrophic cardiomyopathy
p.Asp108Val Single submitter hypertrophic cardiomyopathy ⚠
p.Asp113Tyr Single submitter cardiomyopathy ⚠
p.Asp134Glu Single submitter hypertrophic cardiomyopathy ⚠
p.Asp134Gly Single submitter ⚠
p.Asp168Gly Single submitter Cardiovascular phenotype ⚠
p.Asp168His Single submitter hypertrophic cardiomyopathy ⚠
p.Asp168Tyr Single submitter hypertrophic cardiomyopathy ⚠
p.Asp190Glu Single submitter ⚠
p.Asp3Glu Single submitter Cardiovascular phenotype ⚠
p.Asp3Tyr Single submitter hypertrophic cardiomyopathy ⚠
p.Asp7His Single submitter ⚠
p.Cys80delinsAlaLeuTer Single submitter cardiomyopathy
p.Gln156Glu Single submitter dilated cardiomyopathy 2A ⚠
p.Gln175Arg Single submitter hypertrophic cardiomyopathy ⚠
p.Gln175His Single submitter ⚠
p.Gln175Lys Single submitter hypertrophic cardiomyopathy
p.Gln59Glu Single submitter cardiomyopathy ⚠
p.Gln59Ter Single submitter
p.Gln81Ter Single submitter cardiomyopathy
p.Gln99His Single submitter cardiomyopathy ⚠
p.Gln99Lys Single submitter Cardiovascular phenotype ⚠
p.Gln99Pro Single submitter Cardiovascular phenotype ⚠
p.Glu110Lys Single submitter cardiomyopathy ⚠
p.Glu110Thr Single submitter
p.Glu124Lys Single submitter ⚠
p.Glu165Gln Single submitter hypertrophic cardiomyopathy ⚠
p.Glu165Lys Single submitter hypertrophic cardiomyopathy
p.Glu179fs Single submitter hypertrophic cardiomyopathy
p.Glu179Gln Single submitter hypertrophic cardiomyopathy
p.Glu179Lys Single submitter hypertrophic cardiomyopathy ⚠
p.Glu184Gln Single submitter hypertrophic cardiomyopathy ⚠
p.Glu187Ala Single submitter Cardiovascular phenotype ⚠
p.Glu187Arg Single submitter hypertrophic cardiomyopathy
p.Glu187Asp Single submitter hypertrophic cardiomyopathy ⚠
p.Glu202Ala Single submitter hypertrophic cardiomyopathy ⚠
p.Glu202Gly Single submitter Cardiovascular phenotype ⚠
p.Glu32Gly Single submitter Cardiovascular phenotype ⚠
p.Glu60Gln Single submitter Cardiovascular phenotype ⚠
p.Glu60Gly Single submitter cardiomyopathy ⚠
p.Glu62Gly Single submitter hypertrophic cardiomyopathy 7 ⚠
p.Glu66Asp Single submitter hypertrophic cardiomyopathy ⚠
p.Glu66Gln Single submitter hypertrophic cardiomyopathy ⚠
p.Glu67Val Single submitter ⚠
p.Glu71Lys Single submitter hypertrophic cardiomyopathy ⚠
p.Glu71Ter Single submitter hypertrophic cardiomyopathy
p.Glu84Ter Single submitter Cardiovascular phenotype
p.Glu92Gly Single submitter hypertrophic cardiomyopathy ⚠
p.Gly160Glu Single submitter hypertrophic cardiomyopathy ⚠
p.Gly189Ala Single submitter Cardiovascular phenotype ⚠
p.Gly189Glu Single submitter ⚠
p.Gly200Val Single submitter hypertrophic cardiomyopathy ⚠
p.Gly203Asp Single submitter hypertrophic cardiomyopathy ⚠
p.Gly203Cys Single submitter hypertrophic cardiomyopathy ⚠
p.Gly4Arg Single submitter hypertrophic cardiomyopathy ⚠
p.Gly73Ala Single submitter hypertrophic cardiomyopathy ⚠
p.Gly73Trp Single submitter cardiomyopathy ⚠
p.Gly87Ala Single submitter cardiomyopathy ⚠
p.His34Asn Single submitter dilated cardiomyopathy ⚠
p.His34Gln Single submitter hypertrophic cardiomyopathy ⚠
p.Ile122Met Single submitter hypertrophic cardiomyopathy 1 ⚠
p.Ile125Thr Single submitter hypertrophic cardiomyopathy ⚠
p.Ile132Met Single submitter hypertrophic cardiomyopathy
p.Ile19Ser Single submitter cardiomyopathy ⚠
p.Ile41Phe Single submitter cardiomyopathy ⚠
p.Ile56Val Single submitter hypertrophic cardiomyopathy ⚠