TNNT2 — 1118 ClinVar variants

All ClinVar germline TNNT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 396 flagged for review →

13 Pathogenic · 20 Pathogenic/Likely pathogenic · 30 Likely pathogenic · 117 Conflicting · 60 Benign · 27 Benign/Likely benign · 345 Likely benign · 506 Uncertain significance

Full TNNT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 396

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

Predictors vs ClinVar 2

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

TNNT2 p.Asn279Lys Likely pathogenic Single submitter
Cardiovascular phenotype
TNNT2 p.Glu128Lys Likely pathogenic Single submitter
dilated cardiomyopathy

Predictors agree, ClinVar conflicts 44

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

TNNT2 p.Ala114Glu Conflicting Single submitter
dilated cardiomyopathy 1D
TNNT2 p.Ala19Gly Conflicting Single submitter
cardiomyopathy, familial restrictive, 3
TNNT2 p.Ala37Gly Conflicting Single submitter
cardiomyopathy
TNNT2 p.Ala38Val Conflicting Single submitter
Cardiovascular phenotype
TNNT2 p.Arg140His Conflicting Single submitter
Cardiovascular phenotype
TNNT2 p.Arg141Gly Conflicting Single submitter
dilated cardiomyopathy 1D
TNNT2 p.Arg144Gln Conflicting Single submitter
Cardiovascular phenotype
TNNT2 p.Arg144Pro Conflicting Single submitter
dilated cardiomyopathy 1D
TNNT2 p.Arg144Trp Conflicting Single submitter
TNNT2-related disorder
TNNT2 p.Arg149Cys Conflicting Single submitter
Cardiovascular phenotype
TNNT2 p.Arg149Ser Conflicting Single submitter
Cardiovascular phenotype
TNNT2 p.Arg154Trp Conflicting Single submitter
dilated cardiomyopathy
TNNT2 p.Arg161Cys Conflicting Single submitter
cardiomyopathy
TNNT2 p.Arg168Gly Conflicting Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Arg183Gly Conflicting Single submitter
dilated cardiomyopathy 1D
TNNT2 p.Arg215Gln Conflicting Single submitter
dilated cardiomyopathy 1D
TNNT2 p.Arg215Pro Conflicting Single submitter
dilated cardiomyopathy 1D
TNNT2 p.Arg215Trp Conflicting Single submitter
familial dilated cardiomyopathy
TNNT2 p.Arg94Ile Conflicting Single submitter
dilated cardiomyopathy 1D
TNNT2 p.Arg94Thr Conflicting Single submitter
Cardiovascular phenotype
TNNT2 p.Asn83Ser Conflicting Single submitter
Cardiovascular phenotype
TNNT2 p.Asp108Glu Conflicting Single submitter
Cardiovascular phenotype
TNNT2 p.Asp232Tyr Conflicting Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Asp32His Conflicting Single submitter
dilated cardiomyopathy 1D
TNNT2 p.Asp41Asn Conflicting Single submitter
cardiomyopathy
TNNT2 p.Asp96Asn Conflicting Single submitter
Cardiovascular phenotype
TNNT2 p.Glu106Lys Conflicting Single submitter
cardiomyopathy
TNNT2 p.Glu111Gly Conflicting Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Glu173Lys Conflicting Single submitter
TNNT2-related disorder
TNNT2 p.Glu254Asp Conflicting Single submitter
dilated cardiomyopathy 1D
TNNT2 p.Glu262Lys Conflicting Single submitter
familial dilated cardiomyopathy
TNNT2 p.Glu33Lys Conflicting Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Glu93Lys Conflicting Single submitter
cardiomyopathy
TNNT2 p.Ile198Val Conflicting Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Lys103Asn Conflicting Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Lys103Gln Conflicting Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Lys268Ile Conflicting Single submitter
Cardiovascular phenotype
TNNT2 p.Met70Val Conflicting Single submitter
Cardiovascular phenotype
TNNT2 p.Pro87Thr Conflicting Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Pro90Ser Conflicting Single submitter
TNNT2-related disorder
TNNT2 p.Pro90Thr Conflicting Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Ser79Leu Conflicting Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Thr213Asn Conflicting Single submitter
cardiomyopathy, familial restrictive, 3
TNNT2 p.Val131Ile Conflicting Single submitter
dilated cardiomyopathy 1D

Predictors lean, ClinVar uncertain 275

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 275

TNNT2 p.Arg296Cys Uncertain significance Expert panel
hypertrophic cardiomyopathy
TNNT2 p.Ala114Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Ala167Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Ala19Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Ala223Pro Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Ala223Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1D
TNNT2 p.Ala38Thr Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Ala42Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Ala44Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Ala62Glu Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Ala65Asp Uncertain significance Multiple submitters
dilated cardiomyopathy 1D
TNNT2 p.Ala65Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Arg136Met Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Arg136Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Arg136Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Arg158Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Arg158Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Arg166Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Arg206Gln Uncertain significance Multiple submitters
dilated cardiomyopathy 1D
TNNT2 p.Arg211Lys Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Arg226Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1D
TNNT2 p.Arg240Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Arg275Gln Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Arg296His Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Arg94Ser Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Asn110Ser Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Asn160Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1D
TNNT2 p.Asn174Lys Uncertain significance Multiple submitters
cardiomyopathy, familial restrictive, 3
TNNT2 p.Asn281Ser Uncertain significance Multiple submitters
dilated cardiomyopathy 1D
TNNT2 p.Asn83Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Asp259Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Asp259Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1D
TNNT2 p.Asp280Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Asp280Gly Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Gln147His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Gln238Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Gln34Lys Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Glu117Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Glu12Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Glu138Lys Uncertain significance Multiple submitters
TNNT2-related disorder
TNNT2 p.Glu143Gln Uncertain significance Multiple submitters
dilated cardiomyopathy 1D
TNNT2 p.Glu146Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Glu155Lys Uncertain significance Multiple submitters
cardiomyopathy, familial restrictive, 3
TNNT2 p.Glu157Gly Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Glu171Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1D
TNNT2 p.Glu173Gln Uncertain significance Multiple submitters
dilated cardiomyopathy 1D
TNNT2 p.Glu173Gly Uncertain significance Multiple submitters
dilated cardiomyopathy 1D
TNNT2 p.Glu205Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Glu214Gln Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Glu236Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Glu270Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Glu35Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Glu35Val Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Glu49Lys Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Glu49Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1D
TNNT2 p.Glu55Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1D
TNNT2 p.Glu58Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Glu59Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Glu61Lys Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Gly195Trp Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Gly289Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Gly289Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.His101Leu Uncertain significance Multiple submitters
cardiomyopathy, familial restrictive, 3
TNNT2 p.His101Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Ile100Val Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Ile150Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1D
TNNT2 p.Ile198Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Ile231Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Ile271Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Ile4Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Ile4Met Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Leu130Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Leu133Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Leu133Phe Uncertain significance Multiple submitters
dilated cardiomyopathy 1D
TNNT2 p.Leu260Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Leu274Ile Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Leu84Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Lys134Glu Uncertain significance Multiple submitters
dilated cardiomyopathy 1D
TNNT2 p.Lys177Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Lys184Asn Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Lys185Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Lys186Met Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Lys207Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Lys207Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Lys220Met Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Lys220Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Lys227Asn Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Lys283Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
TNNT2 p.Lys292Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Lys298Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Lys88Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Met191Ile Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Met191Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Met70Lys Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Phe258Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Phe258Val Uncertain significance Multiple submitters
cardiomyopathy, familial restrictive, 3
TNNT2 p.Pro77Leu Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Pro87Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Ser249Asn Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Ser2Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Ser79Thr Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Thr213Ile Uncertain significance Multiple submitters
dilated cardiomyopathy 1D
TNNT2 p.Thr48Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Thr48Ile Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Tyr251Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Tyr251His Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Tyr269Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Tyr269His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Val21Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Val228Leu Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Val273Ile Uncertain significance Multiple submitters
dilated cardiomyopathy
TNNT2 p.Ala114Pro Uncertain significance Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Ala118Ser Uncertain significance Single submitter
Cardiovascular phenotype
TNNT2 p.Ala118Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Ala118Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Ala187Asp Uncertain significance Single submitter
TNNT2 p.Ala202Ser Uncertain significance Single submitter
Cardiovascular phenotype
TNNT2 p.Ala20Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Ala20Ser Uncertain significance Single submitter
dilated cardiomyopathy 1D
TNNT2 p.Ala20Thr Uncertain significance Single submitter
dilated cardiomyopathy 1D
TNNT2 p.Ala230Ser Uncertain significance Single submitter
cardiomyopathy
TNNT2 p.Ala243Thr Uncertain significance Single submitter
cardiomyopathy
TNNT2 p.Ala37Ser Uncertain significance Single submitter
cardiomyopathy
TNNT2 p.Ala37Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Ala42Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Ala53Thr Uncertain significance Single submitter
Cardiovascular phenotype
TNNT2 p.Ala62Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Ala65Pro Uncertain significance Single submitter
cardiomyopathy
TNNT2 p.Arg123Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Arg140Gly Uncertain significance Single submitter
TNNT2 p.Arg140Leu Uncertain significance Single submitter
cardiomyopathy
TNNT2 p.Arg149Leu Uncertain significance Single submitter
Cardiovascular phenotype
TNNT2 p.Arg154Pro Uncertain significance Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Arg161Leu Uncertain significance Single submitter
Cardiovascular phenotype
TNNT2 p.Arg166Gly Uncertain significance Single submitter
TNNT2 p.Arg166Ser Uncertain significance Single submitter
TNNT2 p.Arg168Pro Uncertain significance Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Arg169Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Arg175Thr Uncertain significance Single submitter
dilated cardiomyopathy 1D
TNNT2 p.Arg206Leu Uncertain significance Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Arg211Thr Uncertain significance Single submitter
dilated cardiomyopathy 1D
TNNT2 p.Arg226Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Arg226Trp Uncertain significance Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Arg240Trp Uncertain significance Single submitter
Cardiovascular phenotype
TNNT2 p.Arg52Lys Uncertain significance Single submitter
Cardiovascular phenotype
TNNT2 p.Asn160Ser Uncertain significance Single submitter
cardiomyopathy
TNNT2 p.Asn190Asp Uncertain significance Single submitter
TNNT2 p.Asn190Ser Uncertain significance Single submitter
cardiomyopathy
TNNT2 p.Asn272Asp Uncertain significance Single submitter
cardiomyopathy, familial restrictive, 3
TNNT2 p.Asn276Lys Uncertain significance Single submitter

Predictors split 75

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

TNNT2 p.Ala163Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Ala163Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1D
TNNT2 p.Ala167Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Arg154Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Arg161His Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Arg168Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Asn272Ser Uncertain significance Multiple submitters
dilated cardiomyopathy 1D
TNNT2 p.Asn279Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Asp135Val Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Asp237Asn Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Glu14Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Glu35Asp Uncertain significance Multiple submitters
dilated cardiomyopathy 1D
TNNT2 p.Glu50Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Glu93Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Gly295Arg Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Gly295Glu Uncertain significance Multiple submitters
cardiomyopathy, familial restrictive, 3
TNNT2 p.Leu188Phe Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Met105Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Phe120Ile Pathogenic Multiple submitters
cardiomyopathy
TNNT2 p.Phe120Leu Pathogenic/Likely pathogenic Multiple submitters
familial hypertrophic cardiomyopathy
TNNT2 p.Phe80Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
TNNT2 p.Ser132Tyr Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Thr48Asn Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Trp297Leu Uncertain significance Multiple submitters
cardiomyopathy
TNNT2 p.Val284Ala Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 2
TNNT2 p.Ala114Val Conflicting Single submitter
cardiomyopathy
TNNT2 p.Ala118Asp Uncertain significance Single submitter
Cardiovascular phenotype
TNNT2 p.Ala142Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Ala182Ser Conflicting Single submitter
Cardiovascular phenotype
TNNT2 p.Ala255Val Conflicting Single submitter
cardiomyopathy
TNNT2 p.Ala42Pro Uncertain significance Single submitter
cardiomyopathy
TNNT2 p.Ala46Pro Conflicting Single submitter
Cardiovascular phenotype
TNNT2 p.Arg149His Conflicting Single submitter
Cardiovascular phenotype
TNNT2 p.Arg169Gln Conflicting Single submitter
Cardiovascular phenotype
TNNT2 p.Arg288Pro Conflicting Single submitter
Cardiovascular phenotype
TNNT2 p.Arg296Ser Conflicting Single submitter
Cardiovascular phenotype
TNNT2 p.Asn152Lys Likely pathogenic Single submitter
Cardiovascular phenotype
TNNT2 p.Asn279Tyr Uncertain significance Single submitter
TNNT2 p.Asn281Ile Conflicting Single submitter
Cardiovascular phenotype
TNNT2 p.Asp135Asn Conflicting Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Asp135Gly Uncertain significance Single submitter
Cardiovascular phenotype
TNNT2 p.Asp259Glu Uncertain significance Single submitter
dilated cardiomyopathy 1D
TNNT2 p.Gln113Glu Uncertain significance Single submitter
dilated cardiomyopathy 1D
TNNT2 p.Gln159Leu Uncertain significance Single submitter
dilated cardiomyopathy 1D
TNNT2 p.Gln282His Uncertain significance Single submitter
cardiomyopathy
TNNT2 p.Glu146Asp Uncertain significance Single submitter
dilated cardiomyopathy 1D
TNNT2 p.Glu153Gln Uncertain significance Single submitter
dilated cardiomyopathy 1D
TNNT2 p.Glu205Gln Uncertain significance Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Glu22Lys Uncertain significance Single submitter
cardiomyopathy
TNNT2 p.Glu23Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Glu241Gln Conflicting Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Glu24Gly Likely benign Single submitter
TNNT2 p.Glu270Asp Uncertain significance Single submitter
dilated cardiomyopathy 1D
TNNT2 p.Glu40Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Glu45Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.His193Gln Benign Single submitter
TNNT2 p.Ile150Leu Uncertain significance Single submitter
cardiomyopathy
TNNT2 p.Ile231Thr Conflicting Single submitter
Cardiovascular phenotype
TNNT2 p.Lys200Thr Uncertain significance Single submitter
TNNT2 p.Lys283Arg Uncertain significance Single submitter
TNNT2 p.Lys290Asn Uncertain significance Single submitter
cardiomyopathy
TNNT2 p.Lys298Thr Uncertain significance Single submitter
dilated cardiomyopathy 1D
TNNT2 p.Lys76Gln Uncertain significance Single submitter
dilated cardiomyopathy 1D
TNNT2 p.Met192Ile Uncertain significance Single submitter
dilated cardiomyopathy 1D
TNNT2 p.Phe120Val Uncertain significance Single submitter
TNNT2 p.Pro75Gln Uncertain significance Single submitter
dilated cardiomyopathy 1D
TNNT2 p.Pro82Ala Uncertain significance Single submitter
cardiomyopathy
TNNT2 p.Pro86Thr Uncertain significance Single submitter
cardiomyopathy
TNNT2 p.Ser132Cys Uncertain significance Single submitter
hypertrophic cardiomyopathy 2
TNNT2 p.Ser208Arg Uncertain significance Single submitter
dilated cardiomyopathy 1D
TNNT2 p.Ser249Arg Uncertain significance Single submitter
dilated cardiomyopathy 1D
TNNT2 p.Ser285Tyr Uncertain significance Single submitter
TNNT2 p.Ser79Trp Uncertain significance Single submitter
cardiomyopathy
TNNT2 p.Arg225Lys Uncertain significance No assertion criteria
dilated cardiomyopathy 1S
TNNT2 p.Asn83His Uncertain significance No assertion criteria
Hypokinetic non-dilated cardiomyopathy

All TNNT2 variants

Pathogenic 13

p.Arg141Gln Multiple submitters hypertrophic cardiomyopathy 2
p.Ile89Asn Multiple submitters TNNT2-related disorder
p.Phe120Ile Multiple submitters cardiomyopathy ⚠
p.Arg102Leu Single submitter
p.Arg104Ser Single submitter hypertrophic cardiomyopathy 2
p.Arg183Leu Single submitter dilated cardiomyopathy 1D
p.Asn110_Glu111del Single submitter familial hypertrophic cardiomyopathy
p.Gln282fs Single submitter cardiomyopathy
p.Lys107Asn Single submitter hypertrophic cardiomyopathy 2
p.Lys283Glu Single submitter hypertrophic cardiomyopathy
p.Phe97Leu Single submitter dilated cardiomyopathy 1D
p.Pro90Leu Single submitter
p.Arg215Leu No assertion criteria dilated cardiomyopathy 1D

Pathogenic/Likely pathogenic 20

c.851+1G>C Multiple submitters Cardiovascular phenotype
c.851+1G>T Multiple submitters dilated cardiomyopathy 1D
p.Arg102Gln Multiple submitters TNNT2-related disorder
p.Arg102Trp Multiple submitters Cardiovascular phenotype
p.Arg104Cys Multiple submitters Cardiovascular phenotype
p.Arg104Leu Multiple submitters Cardiovascular phenotype
p.Arg140Cys Multiple submitters Cardiovascular phenotype
p.Arg141Trp Multiple submitters Dilated and arrhythmogenic cardiomyopathy
p.Arg144Gly Multiple submitters hypertrophic cardiomyopathy 2
p.Arg151Trp Multiple submitters TNNT2-related disorder
p.Arg183Gln Multiple submitters TNNT2-related disorder
p.Arg183Trp Multiple submitters Cardiovascular phenotype
p.Asp96Ala Multiple submitters Cardiovascular phenotype
p.Asp98Glu Multiple submitters dilated cardiomyopathy
p.Glu173del Multiple submitters TNNT2-related disorder
p.Gly92Arg Multiple submitters cardiomyopathy, familial restrictive, 3
p.Lys220del Multiple submitters Cardiovascular phenotype
p.Phe120Leu Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Ser189Phe Multiple submitters Cardiovascular phenotype
p.Glu106del No assertion criteria cardiomyopathy, familial restrictive, 3

Likely pathogenic 30

c.851+1G>A Expert panel hypertrophic cardiomyopathy
p.Arg104His Expert panel hypertrophic cardiomyopathy
p.Trp297Ter Expert panel hypertrophic cardiomyopathy
p.Arg141Pro Multiple submitters TNNT2-related disorder
p.Ile100Asn Multiple submitters dilated cardiomyopathy 1D
c.609+1del Single submitter TNNT2-related disorder
c.609+2T>A Single submitter hypertrophic cardiomyopathy 2
c.610-1G>A Single submitter
c.68-2A>G Single submitter dilated cardiomyopathy 1D
p.Ala167Pro Single submitter
p.Arg102Gly Single submitter dilated cardiomyopathy 1D
p.Arg104Gly Single submitter dilated cardiomyopathy 1D
p.Arg149Gly Single submitter cardiomyopathy, familial restrictive, 3
p.Arg151Leu Single submitter
p.Arg176Gly Single submitter
p.Asn152Lys Single submitter Cardiovascular phenotype ⚠
p.Asn279Lys Single submitter Cardiovascular phenotype ⚠
p.Asp96Tyr Single submitter cardiomyopathy, familial restrictive, 3
p.Glu128Lys Single submitter dilated cardiomyopathy ⚠
p.Glu129Gln Single submitter familial dilated cardiomyopathy
p.Gly92Glu Single submitter dilated cardiomyopathy
p.Ile221Thr Single submitter hypertrophic cardiomyopathy 2
p.Ile89Phe Single submitter hypertrophic cardiomyopathy 2
p.Phe97Tyr Single submitter hypertrophic cardiomyopathy 2
p.Ser189Ala Single submitter hypertrophic cardiomyopathy 2
p.Thr213Ala Single submitter TNNT2-related disorder
p.Val95Met Single submitter dilated cardiomyopathy 1D
c.719+2T>A No assertion criteria
p.Lys210Asn No assertion criteria dilated cardiomyopathy
p.Lys218Glu No assertion criteria dilated cardiomyopathy

Conflicting classifications of pathogenicity 117

c.163+1G>T Single submitter cardiomyopathy
c.200-11A>G Single submitter cardiomyopathy, familial restrictive, 3
c.200-4C>G Single submitter Cardiovascular phenotype
c.233+6T>C Single submitter hypertrophic cardiomyopathy 2
c.295-13G>A Single submitter cardiomyopathy
c.295-1G>C Single submitter TNNT2-related disorder
c.41+16A>G Single submitter dilated cardiomyopathy 1D
c.490-1G>C Single submitter Cardiovascular phenotype
c.52+7G>A Single submitter cardiomyopathy
c.53-11_53-10del Single submitter cardiomyopathy
c.53-6G>A Single submitter dilated cardiomyopathy 1D
c.600+4G>A Single submitter Cardiovascular phenotype
c.600+4G>C Single submitter hypertrophic cardiomyopathy 2
c.601-15G>C Single submitter hypertrophic cardiomyopathy 2
c.601-1G>A Single submitter Cardiovascular phenotype
c.601-7G>A Single submitter hypertrophic cardiomyopathy 2
c.601-8C>A Single submitter hypertrophic cardiomyopathy 2
c.601-8C>T Single submitter cardiomyopathy
c.610-10C>T Single submitter cardiomyopathy
c.610-15T>A Single submitter cardiomyopathy
c.67+12A>G Single submitter cardiomyopathy, familial restrictive, 3
c.719+3G>A Single submitter cardiomyopathy
c.720-13_720-11del Single submitter hypertrophic cardiomyopathy 2
c.720-32_720-14dup Single submitter dilated cardiomyopathy 1D
c.720-3C>T Single submitter cardiomyopathy
c.720-5T>G Single submitter Cardiovascular phenotype
c.720-6G>A Single submitter cardiomyopathy
c.720-7C>T Single submitter hypertrophic cardiomyopathy 2
c.720-9C>A Single submitter hypertrophic cardiomyopathy 2
c.810+6C>T Single submitter dilated cardiomyopathy 1D
c.810+7C>T Single submitter hypertrophic cardiomyopathy 2
c.851+5G>A Single submitter cardiomyopathy
c.852-2A>C Single submitter hypertrophic cardiomyopathy 2
c.852-2A>G Single submitter TNNT2-related disorder
c.852-3C>T Single submitter dilated cardiomyopathy 1D
c.98-4C>G Single submitter hypertrophic cardiomyopathy 2
c.-3A>G Single submitter Cardiovascular phenotype
c.-5A>G Single submitter Cardiovascular phenotype
c.*37C>T Single submitter hypertrophic cardiomyopathy 2
c.*39C>T Single submitter hypertrophic cardiomyopathy 2
c.*3C>A Single submitter cardiomyopathy
p.Ala114Glu Single submitter dilated cardiomyopathy 1D ⚠
p.Ala114Val Single submitter cardiomyopathy ⚠
p.Ala145fs Single submitter dilated cardiomyopathy 1D
p.Ala182Ser Single submitter Cardiovascular phenotype ⚠
p.Ala19Gly Single submitter cardiomyopathy, familial restrictive, 3 ⚠
p.Ala255Val Single submitter cardiomyopathy ⚠
p.Ala37Gly Single submitter cardiomyopathy ⚠
p.Ala38Val Single submitter Cardiovascular phenotype ⚠
p.Ala46Pro Single submitter Cardiovascular phenotype ⚠
p.Arg140His Single submitter Cardiovascular phenotype ⚠
p.Arg141Gly Single submitter dilated cardiomyopathy 1D ⚠
p.Arg144Gln Single submitter Cardiovascular phenotype ⚠
p.Arg144Pro Single submitter dilated cardiomyopathy 1D ⚠
p.Arg144Trp Single submitter TNNT2-related disorder ⚠
p.Arg149Cys Single submitter Cardiovascular phenotype ⚠
p.Arg149His Single submitter Cardiovascular phenotype ⚠
p.Arg149Ser Single submitter Cardiovascular phenotype ⚠
p.Arg151Gln Single submitter Cardiovascular phenotype
p.Arg154Trp Single submitter dilated cardiomyopathy ⚠
p.Arg161Cys Single submitter cardiomyopathy ⚠
p.Arg168Gly Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Arg169Gln Single submitter Cardiovascular phenotype ⚠
p.Arg183Gly Single submitter dilated cardiomyopathy 1D ⚠
p.Arg206Trp Single submitter Cardiovascular phenotype
p.Arg215Gln Single submitter dilated cardiomyopathy 1D ⚠
p.Arg215Pro Single submitter dilated cardiomyopathy 1D ⚠
p.Arg215Trp Single submitter familial dilated cardiomyopathy ⚠
p.Arg275Ter Single submitter cardiomyopathy, familial restrictive, 3
p.Arg288His Single submitter Cardiovascular phenotype
p.Arg288Pro Single submitter Cardiovascular phenotype ⚠
p.Arg296Ser Single submitter Cardiovascular phenotype ⚠
p.Arg94Ile Single submitter dilated cardiomyopathy 1D ⚠
p.Arg94Thr Single submitter Cardiovascular phenotype ⚠
p.Asn279= Single submitter Cardiovascular phenotype
p.Asn281Ile Single submitter Cardiovascular phenotype ⚠
p.Asn83Ser Single submitter Cardiovascular phenotype ⚠
p.Asp108Glu Single submitter Cardiovascular phenotype ⚠
p.Asp135Asn Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Asp232Tyr Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Asp32His Single submitter dilated cardiomyopathy 1D ⚠
p.Asp41Asn Single submitter cardiomyopathy ⚠
p.Asp96Asn Single submitter Cardiovascular phenotype ⚠
p.Glu106Lys Single submitter cardiomyopathy ⚠
p.Glu111Gly Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Glu121= Single submitter hypertrophic cardiomyopathy 2
p.Glu13= Single submitter Cardiovascular phenotype
p.Glu165Ter Single submitter cardiomyopathy, familial restrictive, 3
p.Glu173dup Single submitter dilated cardiomyopathy 1D
p.Glu173Lys Single submitter TNNT2-related disorder ⚠
p.Glu181= Single submitter cardiomyopathy
p.Glu241Gln Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Glu254Asp Single submitter dilated cardiomyopathy 1D ⚠
p.Glu262Lys Single submitter familial dilated cardiomyopathy ⚠
p.Glu33Lys Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Glu55Ter Single submitter cardiomyopathy
p.Glu93Lys Single submitter cardiomyopathy ⚠
p.His119Tyr Single submitter hypertrophic cardiomyopathy 2
p.Ile137= Single submitter cardiomyopathy
p.Ile198Val Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Ile231Thr Single submitter Cardiovascular phenotype ⚠
p.Lys103Asn Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Lys103Gln Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Lys268Ile Single submitter Cardiovascular phenotype ⚠
p.Lys283= Single submitter cardiomyopathy
p.Lys74= Single submitter cardiomyopathy
p.Met1Val Single submitter hypertrophic cardiomyopathy 2
p.Met70Val Single submitter Cardiovascular phenotype ⚠
p.Pro87Thr Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Pro90= Single submitter Cardiovascular phenotype
p.Pro90Ser Single submitter TNNT2-related disorder ⚠
p.Pro90Thr Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Ser79Leu Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Thr213Asn Single submitter cardiomyopathy, familial restrictive, 3 ⚠
p.Tyr11= Single submitter cardiomyopathy
p.Val131Ile Single submitter dilated cardiomyopathy 1D ⚠
p.Val21= Single submitter Cardiovascular phenotype

Benign 60

c.163+120T>C Multiple submitters hypertrophic cardiomyopathy 2
c.164-50G>A Multiple submitters hypertrophic cardiomyopathy 2
c.199+258C>T Multiple submitters
c.200-142A>G Multiple submitters
c.200-29C>G Multiple submitters cardiomyopathy, familial restrictive, 3
c.233+317G>A Multiple submitters
c.233+67G>A Multiple submitters
c.412-200G>A Multiple submitters
c.42-58G>A Multiple submitters
c.489+118C>T Multiple submitters
c.490-274T>A Multiple submitters
c.52+48G>A Multiple submitters
c.53-11_53-7del Multiple submitters dilated cardiomyopathy 1D
c.601-142G>T Multiple submitters
c.601-32A>C Multiple submitters dilated cardiomyopathy 1D
c.609+135A>G Multiple submitters
c.610-106C>T Multiple submitters cardiomyopathy
c.610-81C>T Multiple submitters cardiomyopathy, familial restrictive, 3
c.610-90G>A Multiple submitters cardiomyopathy, familial restrictive, 3
c.68-70G>A Multiple submitters
c.68-71C>T Multiple submitters
c.720-86T>C Multiple submitters
c.810+181C>T Multiple submitters
c.810+278A>G Multiple submitters
c.810+41C>G Multiple submitters
c.811-122C>G Multiple submitters hypertrophic cardiomyopathy 2
c.811-33C>T Multiple submitters hypertrophic cardiomyopathy 2
c.97+48A>G Multiple submitters
c.98-131C>T Multiple submitters
c.-14-160G>A Multiple submitters
c.-14-164A>G Multiple submitters
c.-14-260T>C Multiple submitters
c.-14-466G>A Multiple submitters
c.*150C>T Multiple submitters
c.*71C>T Multiple submitters
c.200-20T>G Single submitter
c.234-398G>A Single submitter
c.411+246G>A Single submitter
c.412-260G>A Single submitter
c.53-11C>G Single submitter
c.53-11del Single submitter
c.53-12del Single submitter cardiomyopathy
c.609+179T>C Single submitter
c.67+240T>C Single submitter
c.68-12_68-11insTCCG Single submitter
c.68-216del Single submitter
c.68-3C>T Single submitter
c.68-5del Single submitter
c.720-232C>T Single submitter
c.811-8del Single submitter dilated cardiomyopathy 1D
c.851+22C>T Single submitter
c.97+12T>C Single submitter
c.97+465A>T Single submitter
c.-33C>T Single submitter
c.-8C>A Single submitter
c.*170C>G Single submitter
c.*40A>C Single submitter
c.*88C>G Single submitter
c.*90del Single submitter
p.His193Gln Single submitter ⚠

Benign/Likely benign 27

c.163+12G>A Multiple submitters Cardiovascular phenotype
c.294+7G>A Multiple submitters Cardiovascular phenotype
c.295-14C>T Multiple submitters hypertrophic cardiomyopathy 2
c.295-19C>T Multiple submitters dilated cardiomyopathy 1D
c.412-6_412-4del Multiple submitters Cardiovascular phenotype
c.412-94del Multiple submitters hypertrophic cardiomyopathy 2
c.42-20G>A Multiple submitters dilated cardiomyopathy 1D
c.52+13G>A Multiple submitters hypertrophic cardiomyopathy 2
c.53-22C>A Multiple submitters
c.53-47C>G Multiple submitters hypertrophic cardiomyopathy 2
c.68-3del Multiple submitters
c.68-5C>T Multiple submitters dilated cardiomyopathy 1D
c.68-8A>G Multiple submitters hypertrophic cardiomyopathy 2
c.720-4G>T Multiple submitters Cardiovascular phenotype
c.852-19C>T Multiple submitters cardiomyopathy, familial restrictive, 3
c.98-81G>A Multiple submitters hypertrophic cardiomyopathy 2
c.*123C>T Multiple submitters
c.*180A>T Multiple submitters
c.*31del Multiple submitters
c.*66G>A Multiple submitters cardiomyopathy, familial restrictive, 3
p.Asn174= Multiple submitters Cardiovascular phenotype
p.Glu117= Multiple submitters hypertrophic cardiomyopathy 2
p.Gly295= Multiple submitters hypertrophic cardiomyopathy 2
p.Ile116= Multiple submitters Cardiovascular phenotype
p.Lys263Arg Multiple submitters Cardiovascular phenotype
p.Ser189= Multiple submitters Cardiovascular phenotype
p.Asp259= No assertion criteria

Likely benign 345

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

p.Arg288Cys Expert panel hypertrophic cardiomyopathy
c.163+12G>T Multiple submitters dilated cardiomyopathy 1D
c.163+13T>C Multiple submitters dilated cardiomyopathy 1D
c.164-11G>A Multiple submitters cardiomyopathy
c.164-12T>C Multiple submitters cardiomyopathy
c.164-13G>A Multiple submitters hypertrophic cardiomyopathy 2
c.164-14C>T Multiple submitters cardiomyopathy, familial restrictive, 3
c.199+9A>T Multiple submitters dilated cardiomyopathy 1D
c.200-12T>C Multiple submitters hypertrophic cardiomyopathy 2
c.200-16C>G Multiple submitters hypertrophic cardiomyopathy 2
c.200-6C>T Multiple submitters dilated cardiomyopathy 1D
c.234-10T>C Multiple submitters cardiomyopathy, familial restrictive, 3
c.234-13C>T Multiple submitters dilated cardiomyopathy 1D
c.295-10C>T Multiple submitters hypertrophic cardiomyopathy 2
c.295-18G>A Multiple submitters hypertrophic cardiomyopathy 2
c.41+16A>T Multiple submitters cardiomyopathy, familial restrictive, 3
c.41+6dup Multiple submitters hypertrophic cardiomyopathy 2
c.41+75C>G Multiple submitters
c.412-14C>A Multiple submitters hypertrophic cardiomyopathy 2
c.412-4T>G Multiple submitters hypertrophic cardiomyopathy 2
c.412-8C>T Multiple submitters hypertrophic cardiomyopathy 2
c.42-6T>C Multiple submitters dilated cardiomyopathy 1D
c.42-96C>T Multiple submitters
c.489+18C>T Multiple submitters cardiomyopathy, familial restrictive, 3
c.489+57G>C Multiple submitters
c.490-11C>T Multiple submitters dilated cardiomyopathy 1D
c.490-127C>T Multiple submitters
c.490-14C>G Multiple submitters cardiomyopathy
c.52+12C>T Multiple submitters cardiomyopathy, familial restrictive, 3
c.52+17G>A Multiple submitters hypertrophic cardiomyopathy 2
c.600+14A>T Multiple submitters hypertrophic cardiomyopathy 2
c.601-6G>A Multiple submitters hypertrophic cardiomyopathy 2
c.610-12C>T Multiple submitters cardiomyopathy, familial restrictive, 3
c.610-6C>T Multiple submitters cardiomyopathy, familial restrictive, 3
c.67+7G>T Multiple submitters hypertrophic cardiomyopathy 2
c.68-70G>T Multiple submitters
c.719+13A>C Multiple submitters dilated cardiomyopathy 1D
c.719+13A>G Multiple submitters dilated cardiomyopathy 1D
c.720-10G>A Multiple submitters cardiomyopathy
c.720-10G>C Multiple submitters cardiomyopathy
c.720-13C>G Multiple submitters cardiomyopathy
c.720-14C>A Multiple submitters hypertrophic cardiomyopathy 2
c.720-5T>C Multiple submitters cardiomyopathy
c.720-6G>T Multiple submitters cardiomyopathy, familial restrictive, 3
c.810+27G>C Multiple submitters
c.811-15C>A Multiple submitters dilated cardiomyopathy 1D
c.852-18G>A Multiple submitters hypertrophic cardiomyopathy 2
c.852-23A>G Multiple submitters dilated cardiomyopathy 1D
c.98-14C>T Multiple submitters cardiomyopathy
c.98-18_98-15del Multiple submitters hypertrophic cardiomyopathy 2
c.98-6C>T Multiple submitters cardiomyopathy
c.-14-201G>A Multiple submitters
c.*13T>G Multiple submitters
p.Ala114= Multiple submitters dilated cardiomyopathy 1D
p.Ala145= Multiple submitters hypertrophic cardiomyopathy 2
p.Ala178= Multiple submitters cardiomyopathy
p.Ala19= Multiple submitters cardiomyopathy
p.Ala44= Multiple submitters cardiomyopathy
p.Arg149= Multiple submitters dilated cardiomyopathy 1D
p.Arg151= Multiple submitters Cardiovascular phenotype
p.Arg183= Multiple submitters Cardiovascular phenotype
p.Arg94= Multiple submitters dilated cardiomyopathy 1D
p.Asn190= Multiple submitters cardiomyopathy
p.Asp135= Multiple submitters dilated cardiomyopathy 1D
p.Asp30= Multiple submitters cardiomyopathy
p.Asp32= Multiple submitters hypertrophic cardiomyopathy 2
p.Asp67= Multiple submitters cardiomyopathy
p.Asp99= Multiple submitters dilated cardiomyopathy 1D
p.Gln147= Multiple submitters cardiomyopathy, familial restrictive, 3
p.Gln148= Multiple submitters Cardiovascular phenotype
p.Glu153= Multiple submitters cardiomyopathy, familial restrictive, 3
p.Glu214= Multiple submitters dilated cardiomyopathy 1D
p.Glu45= Multiple submitters Cardiovascular phenotype
p.Glu49= Multiple submitters Cardiovascular phenotype
p.Glu64= Multiple submitters cardiomyopathy
p.Glu71= Multiple submitters cardiomyopathy
p.Glu72= Multiple submitters Cardiovascular phenotype
p.His119= Multiple submitters hypertrophic cardiomyopathy 2
p.Ile150= Multiple submitters cardiomyopathy
p.Ile250= Multiple submitters dilated cardiomyopathy 1D
p.Ile278= Multiple submitters dilated cardiomyopathy 1D
p.Leu130= Multiple submitters hypertrophic cardiomyopathy 2
p.Lys107= Multiple submitters hypertrophic cardiomyopathy 2
p.Lys177= Multiple submitters Cardiovascular phenotype
p.Lys184= Multiple submitters dilated cardiomyopathy 1D
p.Lys242= Multiple submitters hypertrophic cardiomyopathy 2
p.Lys244= Multiple submitters dilated cardiomyopathy 1D
p.Lys257= Multiple submitters cardiomyopathy
p.Lys76= Multiple submitters hypertrophic cardiomyopathy 2
p.Phe258= Multiple submitters Cardiovascular phenotype
p.Pro69= Multiple submitters dilated cardiomyopathy 1D
p.Ser249= Multiple submitters Cardiovascular phenotype
p.Ser79= Multiple submitters Cardiovascular phenotype
p.Ter299= Multiple submitters hypertrophic cardiomyopathy 2
p.Thr204= Multiple submitters cardiomyopathy
p.Thr294= Multiple submitters hypertrophic cardiomyopathy 2
p.Thr48= Multiple submitters Cardiovascular phenotype
p.Thr51= Multiple submitters cardiomyopathy
p.Val293= Multiple submitters Cardiovascular phenotype
p.Val7= Multiple submitters dilated cardiomyopathy 1D
p.Val85= Multiple submitters hypertrophic cardiomyopathy 2
c.163+13T>A Single submitter dilated cardiomyopathy 1D
c.163+14T>G Single submitter cardiomyopathy, familial restrictive, 3
c.163+15G>C Single submitter dilated cardiomyopathy 1D
c.163+17G>A Single submitter hypertrophic cardiomyopathy 2
c.163+8T>C Single submitter cardiomyopathy, familial restrictive, 3
c.163+9C>T Single submitter hypertrophic cardiomyopathy 2
c.164-15T>C Single submitter dilated cardiomyopathy 1D
c.164-57A>C Single submitter
c.164-5T>C Single submitter cardiomyopathy, familial restrictive, 3
c.199+12A>G Single submitter cardiomyopathy, familial restrictive, 3
c.199+13G>A Single submitter dilated cardiomyopathy 1D
c.199+14G>A Single submitter
c.199+16G>C Single submitter dilated cardiomyopathy 1D
c.199+7A>G Single submitter hypertrophic cardiomyopathy 2
c.200-11A>T Single submitter dilated cardiomyopathy 1D
c.200-13C>G Single submitter hypertrophic cardiomyopathy 2
c.200-13C>T Single submitter cardiomyopathy, familial restrictive, 3
c.200-15T>G Single submitter dilated cardiomyopathy 1D
c.200-16C>A Single submitter cardiomyopathy, familial restrictive, 3
c.200-18T>C Single submitter cardiomyopathy, familial restrictive, 3
c.200-6dup Single submitter hypertrophic cardiomyopathy 2
c.200-8T>C Single submitter dilated cardiomyopathy 1D
c.233+10G>A Single submitter cardiomyopathy, familial restrictive, 3
c.233+16C>T Single submitter hypertrophic cardiomyopathy 2
c.233+17del Single submitter hypertrophic cardiomyopathy 2
c.233+221C>T Single submitter
c.233+482A>T Single submitter
c.233+7G>C Single submitter dilated cardiomyopathy 1D
c.233+9G>A Single submitter hypertrophic cardiomyopathy 2
c.233+9G>T Single submitter hypertrophic cardiomyopathy 2
c.234-13C>A Single submitter hypertrophic cardiomyopathy 2
c.234-13C>G Single submitter dilated cardiomyopathy 1D
c.234-3C>T Single submitter cardiomyopathy
c.234-509G>A Single submitter
c.234-6C>T Single submitter hypertrophic cardiomyopathy 2
c.234-9C>G Single submitter dilated cardiomyopathy 1D
c.294+8G>C Single submitter dilated cardiomyopathy 1D
c.295-13G>T Single submitter cardiomyopathy
c.295-14C>A Single submitter hypertrophic cardiomyopathy 2
c.295-15G>T Single submitter cardiomyopathy
c.295-17C>T Single submitter cardiomyopathy, familial restrictive, 3
c.295-4A>G Single submitter hypertrophic cardiomyopathy 2
c.41+14G>A Single submitter hypertrophic cardiomyopathy 2
c.41+41C>T Single submitter
c.411+16G>C Single submitter dilated cardiomyopathy 1D
c.411+18C>T Single submitter hypertrophic cardiomyopathy 2
c.411+20A>C Single submitter cardiomyopathy, familial restrictive, 3
c.412-12T>C Single submitter dilated cardiomyopathy 1D
c.42-11G>C Single submitter hypertrophic cardiomyopathy 2
c.42-12T>C Single submitter cardiomyopathy, familial restrictive, 3
c.42-18_42-17del Single submitter dilated cardiomyopathy 1D
c.42-29C>T Single submitter
c.42-5C>T Single submitter cardiomyopathy
c.42-82C>T Single submitter Left ventricular hypertrophy
c.42-8G>A Single submitter dilated cardiomyopathy 1D
c.489+119G>A Single submitter
c.489+16C>A Single submitter dilated cardiomyopathy 1D
c.489+18del Single submitter dilated cardiomyopathy 1D
c.489+265A>G Single submitter
c.489+7dup Single submitter
c.489+7G>A Single submitter dilated cardiomyopathy 1D
c.489+7G>T Single submitter cardiomyopathy, familial restrictive, 3
c.489+8A>G Single submitter hypertrophic cardiomyopathy 2
c.489+9C>A Single submitter cardiomyopathy, familial restrictive, 3
c.490-101A>G Single submitter
c.490-10T>C Single submitter hypertrophic cardiomyopathy 2
c.490-11C>A Single submitter dilated cardiomyopathy 1D
c.490-12G>A Single submitter cardiomyopathy
c.490-15C>T Single submitter cardiomyopathy
c.490-69C>T Single submitter hypertrophic cardiomyopathy 2
c.52+12C>A Single submitter dilated cardiomyopathy 1D
c.52+13_52+17dup Single submitter hypertrophic cardiomyopathy 2
c.52+16T>C Single submitter hypertrophic cardiomyopathy 2
c.52+18T>C Single submitter dilated cardiomyopathy 1D
c.52+45T>C Single submitter
c.53-11C>T Single submitter hypertrophic cardiomyopathy 2
c.53-16C>T Single submitter hypertrophic cardiomyopathy 2
c.53-4G>A Single submitter hypertrophic cardiomyopathy 2
c.600+10del Single submitter hypertrophic cardiomyopathy 2
c.600+10G>A Single submitter cardiomyopathy, familial restrictive, 3
c.600+11A>G Single submitter cardiomyopathy, familial restrictive, 3
c.600+13C>T Single submitter dilated cardiomyopathy 1D
c.600+13CAG[3] Single submitter dilated cardiomyopathy 1D
c.600+14A>G Single submitter hypertrophic cardiomyopathy 2
c.600+15G>A Single submitter cardiomyopathy, familial restrictive, 3
c.600+20G>T Single submitter dilated cardiomyopathy 1D
c.600+8G>C Single submitter hypertrophic cardiomyopathy 2
c.600+9G>C Single submitter cardiomyopathy, familial restrictive, 3
c.601-298del Single submitter
c.601-7G>T Single submitter cardiomyopathy, familial restrictive, 3
c.609+14A>G Single submitter dilated cardiomyopathy 1D
c.609+15C>T Single submitter
c.609+18C>T Single submitter dilated cardiomyopathy 1D
c.610-11A>G Single submitter cardiomyopathy
c.610-4C>A Single submitter dilated cardiomyopathy 1D
c.610-89C>T Single submitter cardiomyopathy
c.610-9A>C Single submitter hypertrophic cardiomyopathy 2
c.610-9A>G Single submitter cardiomyopathy
c.67+12A>T Single submitter cardiomyopathy, familial restrictive, 3
c.67+13G>A Single submitter cardiomyopathy, familial restrictive, 3
c.67+17G>A Single submitter hypertrophic cardiomyopathy 2
c.67+189T>C Single submitter
c.67+18G>C Single submitter dilated cardiomyopathy 1D
c.67+20G>A Single submitter dilated cardiomyopathy 1D
c.67+321G>C Single submitter
c.67+7G>A Single submitter cardiomyopathy, familial restrictive, 3
c.67+97C>T Single submitter
c.67+9C>T Single submitter hypertrophic cardiomyopathy 2
c.68-6C>A Single submitter hypertrophic cardiomyopathy 2
c.68-9G>A Single submitter cardiomyopathy
c.719+17A>G Single submitter hypertrophic cardiomyopathy 2
c.719+18T>C Single submitter dilated cardiomyopathy 1D
c.719+19G>A Single submitter hypertrophic cardiomyopathy 2
c.719+20G>A Single submitter dilated cardiomyopathy 1D
c.720-12T>A Single submitter hypertrophic cardiomyopathy 2
c.720-14C>G Single submitter hypertrophic cardiomyopathy 2
c.720-15C>A Single submitter dilated cardiomyopathy 1D
c.720-71C>T Single submitter
c.810+136C>T Single submitter
c.810+13G>A Single submitter
c.810+14C>G Single submitter cardiomyopathy, familial restrictive, 3
c.810+15T>C Single submitter cardiomyopathy, familial restrictive, 3
c.810+18C>A Single submitter hypertrophic cardiomyopathy 2
c.810+18C>T Single submitter dilated cardiomyopathy 1D
c.810+19C>G Single submitter hypertrophic cardiomyopathy 2
c.810+64C>G Single submitter
c.810+64C>T Single submitter
c.810+65G>A Single submitter
c.810+8G>A Single submitter dilated cardiomyopathy 1D
c.811-13A>G Single submitter dilated cardiomyopathy 1D
c.811-17T>C Single submitter hypertrophic cardiomyopathy 2
c.811-18T>C Single submitter hypertrophic cardiomyopathy 2
c.811-19C>G Single submitter
c.811-233G>A Single submitter
c.811-4G>A Single submitter hypertrophic cardiomyopathy 2
c.811-7C>T Single submitter cardiomyopathy, familial restrictive, 3
c.811-8dup Single submitter cardiomyopathy
c.851+10T>A Single submitter hypertrophic cardiomyopathy 2
c.851+11G>A Single submitter dilated cardiomyopathy 1D
c.851+43C>T Single submitter
c.851+7G>A Single submitter dilated cardiomyopathy 1D
c.851+8T>A Single submitter hypertrophic cardiomyopathy 2
c.851+8T>C Single submitter hypertrophic cardiomyopathy 2
c.852-16C>T Single submitter cardiomyopathy, familial restrictive, 3
c.852-17T>C Single submitter hypertrophic cardiomyopathy 2
c.852-7C>T Single submitter dilated cardiomyopathy 1D
c.852-9C>T Single submitter dilated cardiomyopathy 1D
c.98-10A>G Single submitter cardiomyopathy, familial restrictive, 3
c.98-13T>C Single submitter hypertrophic cardiomyopathy 2
c.98-186C>T Single submitter hypertrophic cardiomyopathy 2
c.98-19G>A Single submitter dilated cardiomyopathy 1D
c.98-20T>C Single submitter dilated cardiomyopathy 1D
c.98-21_98-20del Single submitter cardiomyopathy, familial restrictive, 3
c.98-3C>T Single submitter cardiomyopathy
c.98-4_98-3delinsT Single submitter
c.98-9C>A Single submitter hypertrophic cardiomyopathy 2
c.-15+10G>A Single submitter
c.-15+17G>A Single submitter
c.-15+6G>T Single submitter
c.-40G>T Single submitter
c.-43C>T Single submitter
c.-49C>T Single submitter
c.*137C>T Single submitter
c.*28C>T Single submitter
c.*34G>T Single submitter
c.*81T>C Single submitter
c.*91A>T Single submitter
p.Ala223= Single submitter cardiomyopathy
p.Ala230= Single submitter cardiomyopathy
p.Ala38= Single submitter cardiomyopathy, familial restrictive, 3
p.Ala42= Single submitter dilated cardiomyopathy 1D
p.Ala53= Single submitter cardiomyopathy, familial restrictive, 3
p.Arg123= Single submitter cardiomyopathy
p.Arg140= Single submitter hypertrophic cardiomyopathy 2
p.Arg141= Single submitter cardiomyopathy
p.Arg144= Single submitter cardiomyopathy
p.Arg154= Single submitter dilated cardiomyopathy 1D
p.Arg158= Single submitter Cardiovascular phenotype
p.Arg166= Single submitter cardiomyopathy, familial restrictive, 3
p.Arg168= Single submitter hypertrophic cardiomyopathy 2
p.Arg169= Single submitter dilated cardiomyopathy 1D
p.Arg176= Single submitter hypertrophic cardiomyopathy 2
p.Arg215= Single submitter hypertrophic cardiomyopathy 2
p.Arg275= Single submitter dilated cardiomyopathy 1D
p.Arg28= Single submitter hypertrophic cardiomyopathy 2
p.Arg288= Single submitter cardiomyopathy, familial restrictive, 3
p.Asn122= Single submitter cardiomyopathy, familial restrictive, 3
p.Asn152= Single submitter cardiomyopathy
p.Asn160= Single submitter cardiomyopathy
p.Asn276= Single submitter hypertrophic cardiomyopathy 2
p.Asn83= Single submitter hypertrophic cardiomyopathy 2
p.Asp232= Single submitter cardiomyopathy, familial restrictive, 3
p.Asp280= Single submitter dilated cardiomyopathy 1D
p.Asp91= Single submitter hypertrophic cardiomyopathy 2
p.Gln238= Single submitter hypertrophic cardiomyopathy 2
p.Gln248= Single submitter cardiomyopathy
p.Gln266= Single submitter dilated cardiomyopathy 1D
p.Gln34= Single submitter cardiomyopathy
p.Glu126= Single submitter dilated cardiomyopathy 1D

Uncertain significance 506

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

p.Arg296Cys Expert panel hypertrophic cardiomyopathy ⚠
c.163+2T>C Multiple submitters Cardiovascular phenotype
c.163+4A>T Multiple submitters cardiomyopathy
c.164-14C>A Multiple submitters dilated cardiomyopathy 1D
c.233+3G>A Multiple submitters cardiomyopathy
c.294+5G>A Multiple submitters Cardiovascular phenotype
c.294+6C>T Multiple submitters dilated cardiomyopathy 1D
c.295-11T>G Multiple submitters dilated cardiomyopathy 1D
c.295-1G>A Multiple submitters cardiomyopathy, familial restrictive, 3
c.40_41+1delGAG Multiple submitters hypertrophic cardiomyopathy 2
c.41+5G>A Multiple submitters Cardiovascular phenotype
c.411+1G>A Multiple submitters hypertrophic cardiomyopathy 2
c.411+6T>A Multiple submitters dilated cardiomyopathy 1D
c.42-5C>G Multiple submitters hypertrophic cardiomyopathy 2
c.489+5G>A Multiple submitters cardiomyopathy
c.52+3A>C Multiple submitters cardiomyopathy
c.52+6C>T Multiple submitters hypertrophic cardiomyopathy 2
c.609+3G>A Multiple submitters Cardiovascular phenotype
c.67+4T>C Multiple submitters cardiomyopathy
c.67+5G>A Multiple submitters hypertrophic cardiomyopathy 2
c.719+1G>C Multiple submitters hypertrophic cardiomyopathy 2
c.719+3G>T Multiple submitters cardiomyopathy
c.719+5G>A Multiple submitters hypertrophic cardiomyopathy 2
c.720-6_720-3del Multiple submitters cardiomyopathy
c.810+1G>A Multiple submitters dilated cardiomyopathy 1D
c.810+5G>A Multiple submitters Cardiovascular phenotype
c.851+5G>C Multiple submitters hypertrophic cardiomyopathy 2
c.851+6T>A Multiple submitters cardiomyopathy
c.852-1G>T Multiple submitters cardiomyopathy, familial restrictive, 3
c.852-3C>A Multiple submitters dilated cardiomyopathy 1D
c.-1C>A Multiple submitters Cardiovascular phenotype
c.-1C>T Multiple submitters cardiomyopathy, familial restrictive, 3
c.*2G>A Multiple submitters cardiomyopathy
p.Ala114Thr Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Ala163Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala163Thr Multiple submitters dilated cardiomyopathy 1D ⚠
p.Ala167Gly Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Ala167Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala19Ser Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Ala223Pro Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Ala223Val Multiple submitters dilated cardiomyopathy 1D ⚠
p.Ala38Thr Multiple submitters cardiomyopathy ⚠
p.Ala42Thr Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Ala44Val Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Ala62Glu Multiple submitters cardiomyopathy ⚠
p.Ala65Asp Multiple submitters dilated cardiomyopathy 1D ⚠
p.Ala65Thr Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Arg136Met Multiple submitters cardiomyopathy ⚠
p.Arg136Ser Multiple submitters Cardiovascular phenotype ⚠
p.Arg136Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg151fs Multiple submitters Cardiovascular phenotype
p.Arg154Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg158Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg158Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg161His Multiple submitters cardiomyopathy ⚠
p.Arg166Lys Multiple submitters Cardiovascular phenotype ⚠
p.Arg168Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg168Ter Multiple submitters cardiomyopathy
p.Arg169Ter Multiple submitters Cardiovascular phenotype
p.Arg206Gln Multiple submitters dilated cardiomyopathy 1D ⚠
p.Arg211Lys Multiple submitters cardiomyopathy ⚠
p.Arg226Lys Multiple submitters dilated cardiomyopathy 1D ⚠
p.Arg240Lys Multiple submitters Cardiovascular phenotype ⚠
p.Arg275Gln Multiple submitters cardiomyopathy ⚠
p.Arg296His Multiple submitters Cardiovascular phenotype ⚠
p.Arg94fs Multiple submitters dilated cardiomyopathy 1D
p.Arg94Ser Multiple submitters cardiomyopathy ⚠
p.Asn110Ser Multiple submitters cardiomyopathy ⚠
p.Asn160Lys Multiple submitters dilated cardiomyopathy 1D ⚠
p.Asn174Lys Multiple submitters cardiomyopathy, familial restrictive, 3 ⚠
p.Asn272Ser Multiple submitters dilated cardiomyopathy 1D ⚠
p.Asn279Asp Multiple submitters Cardiovascular phenotype ⚠
p.Asn281Ser Multiple submitters dilated cardiomyopathy 1D ⚠
p.Asn281Tyr Multiple submitters dilated cardiomyopathy 1D
p.Asn83Thr Multiple submitters Cardiovascular phenotype ⚠
p.Asp135Val Multiple submitters Cardiovascular phenotype ⚠
p.Asp237Asn Multiple submitters cardiomyopathy ⚠
p.Asp259Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp259Val Multiple submitters dilated cardiomyopathy 1D ⚠
p.Asp280Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp280Gly Multiple submitters cardiomyopathy ⚠
p.Asp91Asn Multiple submitters dilated cardiomyopathy 1D
p.Gln147His Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Gln238Glu Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Gln261Arg Multiple submitters dilated cardiomyopathy 1D
p.Gln282Ter Multiple submitters Cardiovascular phenotype
p.Gln34Lys Multiple submitters cardiomyopathy ⚠
p.Glu117Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu126fs Multiple submitters dilated cardiomyopathy 1D
p.Glu12Lys Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Glu138Lys Multiple submitters TNNT2-related disorder ⚠
p.Glu143Gln Multiple submitters dilated cardiomyopathy 1D ⚠
p.Glu146Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu14Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu155Lys Multiple submitters cardiomyopathy, familial restrictive, 3 ⚠
p.Glu157Gly Multiple submitters cardiomyopathy ⚠
p.Glu171Lys Multiple submitters dilated cardiomyopathy 1D ⚠
p.Glu173Gln Multiple submitters dilated cardiomyopathy 1D ⚠
p.Glu173Gly Multiple submitters dilated cardiomyopathy 1D ⚠
p.Glu205fs Multiple submitters dilated cardiomyopathy 1D
p.Glu205Gly Multiple submitters dilated cardiomyopathy 1D
p.Glu205Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu214Gln Multiple submitters cardiomyopathy ⚠
p.Glu236Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu270Lys Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Glu33Ter Multiple submitters cardiomyopathy, familial restrictive, 3
p.Glu35Asp Multiple submitters dilated cardiomyopathy 1D ⚠
p.Glu35Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu35Val Multiple submitters Cardiovascular phenotype ⚠
p.Glu49Lys Multiple submitters cardiomyopathy ⚠
p.Glu49Val Multiple submitters dilated cardiomyopathy 1D ⚠
p.Glu50Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu55Lys Multiple submitters dilated cardiomyopathy 1D ⚠
p.Glu58Lys Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Glu59Lys Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Glu61del Multiple submitters Cardiovascular phenotype
p.Glu61Lys Multiple submitters cardiomyopathy ⚠
p.Glu93Asp Multiple submitters Cardiovascular phenotype ⚠
p.Gly195Trp Multiple submitters cardiomyopathy ⚠
p.Gly196fs Multiple submitters hypertrophic cardiomyopathy 2
p.Gly289Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly289Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gly295Arg Multiple submitters cardiomyopathy ⚠
p.Gly295Glu Multiple submitters cardiomyopathy, familial restrictive, 3 ⚠
p.His101Leu Multiple submitters cardiomyopathy, familial restrictive, 3 ⚠
p.His101Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Ile100Val Multiple submitters Cardiovascular phenotype ⚠
p.Ile116Thr Multiple submitters Cardiovascular phenotype
p.Ile150Val Multiple submitters dilated cardiomyopathy 1D ⚠
p.Ile198Thr Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Ile231Val Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Ile271Ser Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Ile4Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ile4Met Multiple submitters Cardiovascular phenotype ⚠
p.Leu130Val Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Leu133Arg Multiple submitters Cardiovascular phenotype ⚠
p.Leu133Phe Multiple submitters dilated cardiomyopathy 1D ⚠
p.Leu188Phe Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Leu260Pro Multiple submitters Cardiovascular phenotype ⚠
p.Leu274Ile Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Leu84Trp Multiple submitters Cardiovascular phenotype ⚠
p.Lys134Glu Multiple submitters dilated cardiomyopathy 1D ⚠
p.Lys177Glu Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Lys184Asn Multiple submitters cardiomyopathy ⚠
p.Lys185Arg Multiple submitters Cardiovascular phenotype ⚠
p.Lys186del Multiple submitters hypertrophic cardiomyopathy 2
p.Lys186Met Multiple submitters Cardiovascular phenotype ⚠
p.Lys207Arg Multiple submitters Cardiovascular phenotype ⚠
p.Lys207Glu Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Lys220Met Multiple submitters cardiomyopathy ⚠
p.Lys220Thr Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Lys227Asn Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Lys283Gln Multiple submitters hypertrophic cardiomyopathy ⚠
p.Lys292Glu Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Lys298Arg Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Lys88Glu Multiple submitters Cardiovascular phenotype ⚠
p.Met105Val Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Met191Ile Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Met191Thr Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Met1Ile Multiple submitters Cardiovascular phenotype
p.Met70Lys Multiple submitters cardiomyopathy ⚠
p.Phe258Leu Multiple submitters Cardiovascular phenotype ⚠
p.Phe258Val Multiple submitters cardiomyopathy, familial restrictive, 3 ⚠
p.Phe80Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro77Leu Multiple submitters cardiomyopathy ⚠
p.Pro87Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ser132Tyr Multiple submitters cardiomyopathy ⚠
p.Ser249Asn Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Ser2Pro Multiple submitters Cardiovascular phenotype ⚠
p.Ser79Thr Multiple submitters cardiomyopathy ⚠
p.Thr204Ile Multiple submitters hypertrophic cardiomyopathy 2
p.Thr213Ile Multiple submitters dilated cardiomyopathy 1D ⚠
p.Thr48Ala Multiple submitters Cardiovascular phenotype ⚠
p.Thr48Asn Multiple submitters cardiomyopathy ⚠
p.Thr48Ile Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Trp297Leu Multiple submitters cardiomyopathy ⚠
p.Tyr251Cys Multiple submitters Cardiovascular phenotype ⚠
p.Tyr251His Multiple submitters cardiomyopathy ⚠
p.Tyr269Cys Multiple submitters Cardiovascular phenotype ⚠
p.Tyr269His Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Val21Ile Multiple submitters Cardiovascular phenotype ⚠
p.Val228Leu Multiple submitters cardiomyopathy ⚠
p.Val273Ile Multiple submitters dilated cardiomyopathy ⚠
p.Val284Ala Multiple submitters hypertrophic cardiomyopathy 2 ⚠
p.Val85Gly Multiple submitters Cardiovascular phenotype
p.Val95fs Multiple submitters Cardiovascular phenotype
c.163+2T>G Single submitter cardiomyopathy
c.163+3_163+6del Single submitter cardiomyopathy
c.163+5G>A Single submitter dilated cardiomyopathy 1D
c.163+6T>C Single submitter Cardiovascular phenotype
c.164-3del Single submitter cardiomyopathy
c.199+1G>T Single submitter Cardiovascular phenotype
c.199+4A>G Single submitter dilated cardiomyopathy 1D
c.199+5G>A Single submitter dilated cardiomyopathy 1D
c.199+8_199+9delinsAGCAAAGGAGGCTGAAGGAAGCAAAGGAGGCTGAAGGAAGCAAAGGAGGCTGAAGGTACC Single submitter cardiomyopathy
c.200-1G>A Single submitter dilated cardiomyopathy 1D
c.233+5G>T Single submitter cardiomyopathy
c.234-2A>G Single submitter hypertrophic cardiomyopathy 2
c.294+11G>A Single submitter hypertrophic cardiomyopathy 2
c.294+2T>A Single submitter dilated cardiomyopathy 1D
c.294+4A>C Single submitter Cardiovascular phenotype
c.295-11T>A Single submitter hypertrophic cardiomyopathy 2
c.295-3C>A Single submitter cardiomyopathy
c.295-7C>G Single submitter
c.41+1G>A Single submitter cardiomyopathy
c.41+3_41+6del Single submitter
c.41+6T>C Single submitter hypertrophic cardiomyopathy 2
c.411_412delinsTA Single submitter hypertrophic cardiomyopathy
c.411+7G>C Single submitter hypertrophic cardiomyopathy 2
c.412-200G>C Single submitter dilated cardiomyopathy 1D
c.412-9T>A Single submitter cardiomyopathy
c.489+4A>T Single submitter dilated cardiomyopathy 1D
c.52+4A>G Single submitter Cardiovascular phenotype
c.53-15_53-12del Single submitter cardiomyopathy
c.53-19G>A Single submitter dilated cardiomyopathy 1D
c.53-3C>T Single submitter cardiomyopathy
c.53-9del Single submitter cardiomyopathy
c.600+2T>C Single submitter cardiomyopathy
c.600+3A>G Single submitter Cardiovascular phenotype
c.600+5G>A Single submitter hypertrophic cardiomyopathy 2
c.600+6T>C Single submitter cardiomyopathy
c.600+8G>A Single submitter
c.609+1G>A Single submitter dilated cardiomyopathy 1D
c.609+1G>C Single submitter Cardiovascular phenotype
c.609+1G>T Single submitter cardiomyopathy, familial restrictive, 3
c.609+3_609+6del Single submitter cardiomyopathy
c.609+5G>A Single submitter dilated cardiomyopathy 1D
c.609+5G>C Single submitter
c.610-7C>A Single submitter cardiomyopathy
c.610-8C>A Single submitter cardiomyopathy
c.67+1G>C Single submitter dilated cardiomyopathy 1D
c.719+12_719+28del Single submitter cardiomyopathy
c.719+1G>A Single submitter cardiomyopathy
c.719+1G>T Single submitter Cardiovascular phenotype
c.719+3G>C Single submitter Cardiovascular phenotype
c.719+4G>C Single submitter Cardiovascular phenotype
c.719+6G>T Single submitter cardiomyopathy
c.719+9T>C Single submitter cardiomyopathy, familial restrictive, 3
c.720-1G>A Single submitter hypertrophic cardiomyopathy 2
c.810+8G>T Single submitter cardiomyopathy, familial restrictive, 3
c.811-11T>G Single submitter hypertrophic cardiomyopathy 2
c.811-13A>C Single submitter cardiomyopathy
c.811-1G>T Single submitter cardiomyopathy
c.811-5T>G Single submitter dilated cardiomyopathy 1D
c.821+3_821+8dupAAGTGT Single submitter Cardiovascular phenotype
c.851+2dup Single submitter dilated cardiomyopathy 1D
c.852-3C>G Single submitter dilated cardiomyopathy 1D
c.852-5T>G Single submitter hypertrophic cardiomyopathy 2
c.97+1G>A Single submitter
c.98-2A>T Single submitter cardiomyopathy
c.-10A>C Single submitter cardiomyopathy
c.-11G>T Single submitter cardiomyopathy
c.-22G>C Single submitter cardiomyopathy, familial restrictive, 3
c.-9G>A Single submitter TNNT2-related disorder
c.*37C>G Single submitter cardiomyopathy, familial restrictive, 3
c.*3C>G Single submitter cardiomyopathy
c.*3C>T Single submitter Cardiovascular phenotype
c.*4C>G Single submitter cardiomyopathy
p.Ala114Pro Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Ala118Asp Single submitter Cardiovascular phenotype ⚠
p.Ala118fs Single submitter Cardiovascular phenotype
p.Ala118Ser Single submitter Cardiovascular phenotype ⚠
p.Ala118Thr Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Ala118Val Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Ala142Val Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Ala187Asp Single submitter ⚠
p.Ala187Val Single submitter
p.Ala202Ser Single submitter Cardiovascular phenotype ⚠
p.Ala20Asp Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Ala20Ser Single submitter dilated cardiomyopathy 1D ⚠
p.Ala20Thr Single submitter dilated cardiomyopathy 1D ⚠
p.Ala230Ser Single submitter cardiomyopathy ⚠
p.Ala243Thr Single submitter cardiomyopathy ⚠
p.Ala37Ser Single submitter cardiomyopathy ⚠
p.Ala37Thr Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Ala42Pro Single submitter cardiomyopathy ⚠
p.Ala42Ser Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Ala53Thr Single submitter Cardiovascular phenotype ⚠
p.Ala62Thr Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Ala65Pro Single submitter cardiomyopathy ⚠
p.Arg123Ser Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Arg140Gly Single submitter ⚠
p.Arg140Leu Single submitter cardiomyopathy ⚠
p.Arg141fs Single submitter cardiomyopathy
p.Arg149Leu Single submitter Cardiovascular phenotype ⚠
p.Arg154Pro Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Arg158His Single submitter dilated cardiomyopathy 1D
p.Arg161fs Single submitter autosomal recessive congenital ichthyosis 1
p.Arg161Leu Single submitter Cardiovascular phenotype ⚠
p.Arg166Gly Single submitter ⚠
p.Arg166Ser Single submitter ⚠
p.Arg168Pro Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Arg169Gly Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Arg175Thr Single submitter dilated cardiomyopathy 1D ⚠
p.Arg176fs Single submitter cardiomyopathy, familial restrictive, 3
p.Arg206Leu Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Arg211Thr Single submitter dilated cardiomyopathy 1D ⚠
p.Arg226Gly Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Arg226Trp Single submitter hypertrophic cardiomyopathy 2 ⚠
p.Arg240Trp Single submitter Cardiovascular phenotype ⚠