ACTN2 — 1770 ClinVar variants

All ClinVar germline ACTN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 806 flagged for review →

5 Pathogenic · 2 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 200 Conflicting · 106 Benign · 48 Benign/Likely benign · 568 Likely benign · 823 Uncertain significance

Full ACTN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 806

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

Predictors agree, ClinVar conflicts 101

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

ACTN2 p.Ala244Val Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Ala410Ser Conflicting Single submitter
ACTN2-related disorder
ACTN2 p.Ala446Val Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Ala453Val Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Ala462Ser Conflicting Single submitter
myopathy, distal, 6, adult-onset, autosomal dominant
ACTN2 p.Ala465Thr Conflicting Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Ala476Ser Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Ala503Ser Conflicting Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Ala568Gly Conflicting Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Ala630Thr Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Ala644Thr Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Ala732Thr Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Ala760Thr Conflicting Single submitter
cardiomyopathy
ACTN2 p.Ala868Thr Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Ala882Thr Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Ala887Thr Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Arg140His Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Arg192Gln Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Arg298His Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Arg327His Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Arg353Trp Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Arg394Trp Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Arg398Cys Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Arg398His Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Arg438Gln Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Arg438Trp Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Arg442Trp Conflicting Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Arg457Cys Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Arg482Gly Conflicting Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Arg608Gln Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Arg621Cys Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Arg621His Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Arg662Gln Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Arg721His Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Arg721Ser Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Arg836Gln Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Arg836Trp Conflicting Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Arg865Thr Conflicting Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Arg93Gln Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Asn391Ser Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Asn530Ser Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Asn580Lys Conflicting Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Asn590Ser Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Asn684Ile Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Asn690Ser Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Asp15Asn Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Asp230Glu Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Asp450Asn Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Asp569Glu Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Asp826Val Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Asp893Gly Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Gln349Leu Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Gln703Leu Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Gln858Pro Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Gln9Arg Conflicting Single submitter
myopathy, congenital, with structured cores and z-line abnormalities
ACTN2 p.Glu342Gly Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Glu382Gly Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Glu430Gln Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Glu445Lys Conflicting Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Glu448Gln Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Glu549Val Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Glu583Ala Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Glu737Asp Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Gly373Ser Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Gly650Arg Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Gly890Arg Conflicting Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.His474Tyr Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.His633Gln Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Ile134Thr Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Ile173Val Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Ile591Val Conflicting Single submitter
myopathy, congenital, with structured cores and z-line abnormalities
ACTN2 p.Ile593Thr Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Ile620Val Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Ile649Thr Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Ile649Val Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Ile686Val Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Leu186Phe Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Met313Leu Conflicting Single submitter
myopathy, congenital, with structured cores and z-line abnormalities
ACTN2 p.Met316Thr Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Met507Val Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Met576Thr Conflicting Single submitter
congestive heart failure
ACTN2 p.Met604Ile Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Met657Leu Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Met675Thr Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Phe817Leu Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Ser147Leu Conflicting Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Ser250Phe Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Ser431Leu Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Ser433Trp Conflicting Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Thr347Met Conflicting Single submitter
hypertrophic cardiomyopathy
ACTN2 p.Thr412Met Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Thr564Met Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Thr716Met Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Thr744Met Conflicting Single submitter
cardiomyopathy
ACTN2 p.Thr751Ile Conflicting Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Thr808Ile Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Thr808Ser Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Trp388Arg Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Val458Met Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Val602Ile Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Val618Met Conflicting Single submitter
dilated cardiomyopathy 1AA

Predicted LoF vs a conflicting call 4

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

ACTN2 c.616-2A>G Conflicting Single submitter
familial hypertrophic cardiomyopathy
ACTN2 c.877-2A>G Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Arg192Ter Conflicting Single submitter
Left ventricular noncompaction cardiomyopathy
ACTN2 p.Asp841fs Conflicting Single submitter
myopathy, distal, 6, adult-onset, autosomal dominant

Predictors lean, ClinVar uncertain 415

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 415

ACTN2 p.Ala142Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ala153Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Ala166Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ala215Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ala219Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ala257Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ala259Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Ala265Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ala453Gly Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Ala568Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Ala670Thr Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Ala823Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ala859Thr Uncertain significance Multiple submitters
intrinsic cardiomyopathy
ACTN2 p.Arg140Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Arg194Gln Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Arg324Pro Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Arg324Trp Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Arg327Cys Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Arg327Pro Uncertain significance Multiple submitters
ACTN2 p.Arg357Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Arg357His Uncertain significance Multiple submitters
myopathy, congenital, with structured cores and z-line abnormalities
ACTN2 p.Arg398Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Arg457His Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Arg592Ile Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Arg639Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Arg640His Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Arg721Cys Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Arg721Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Arg796Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Arg796Leu Uncertain significance Multiple submitters
myopathy, congenital, with structured cores and z-line abnormalities
ACTN2 p.Arg89Trp Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Asn11His Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Asn11Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Asn236Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Asn276Asp Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Asn279Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Asn580Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Asn597His Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Asn690Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Asn804Ser Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Asp206Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Asp233Asn Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Asp241Asn Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Asp450Tyr Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Asp481Gly Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Asp65Asn Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Asp698Glu Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Cys487Phe Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Cys48Ser Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Cys781Phe Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Gln317Pro Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Gln516Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Gln666His Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Gln812His Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Gln830Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Gln9Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Glu263Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Glu337Lys Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Glu386Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Glu448Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Glu537Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Glu567Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Glu606Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Glu636Gly Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Glu636Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Glu63Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Glu737Ala Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Glu793Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Glu82Lys Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Gly118Asp Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Gly118Ser Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Gly56Asp Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Gly570Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Gly723Glu Uncertain significance Multiple submitters
ACTN2-related disorder
ACTN2 p.Gly7Ser Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Gly805Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Gly81Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.His193Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.His413Asp Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.His413Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.His413Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.His444Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ile143Val Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Ile198Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ile21Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Ile225Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ile225Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Ile234Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ile371Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ile4Met Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ile575Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ile685Asn Uncertain significance Multiple submitters
ACTN2 p.Ile686Leu Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Ile863Leu Uncertain significance Multiple submitters
myopathy, distal, 6, adult-onset, autosomal dominant
ACTN2 p.Leu189Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Leu197Phe Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Leu229Trp Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Leu352Gln Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Leu471Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Leu511Pro Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Lys181Glu Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Lys319Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Lys409Arg Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Lys562Asn Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Met133Val Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Met20Leu Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Met20Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Met20Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Met216Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Met313Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Met532Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Met576Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Met604Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Met866Leu Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Met92Ile Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Phe256Ser Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Phe406Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Pro302Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ser147Pro Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Ser449Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ser594Gly Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Ser885Pro Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Thr45Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Thr513Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Thr713Met Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Thr734Ile Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Thr799Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Trp388Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Tyr286Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Tyr385Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Tyr473Cys Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Tyr869Asp Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Val115Met Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Val368Leu Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Val614Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Val707Ala Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Ala103Thr Uncertain significance Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Ala153Thr Uncertain significance Single submitter
Cardiovascular phenotype
ACTN2 p.Ala219Pro Uncertain significance Single submitter
Cardiovascular phenotype
ACTN2 p.Ala219Val Uncertain significance Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Ala257Thr Uncertain significance Single submitter
Cardiovascular phenotype
ACTN2 p.Ala262Asp Uncertain significance Single submitter
ACTN2 p.Ala265Thr Uncertain significance Single submitter
Cardiovascular phenotype
ACTN2 p.Ala266Asp Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Ala274Pro Uncertain significance Single submitter
ACTN2 p.Ala403Asp Uncertain significance Single submitter
Cardiovascular phenotype
ACTN2 p.Ala410Asp Uncertain significance Single submitter
Cardiovascular phenotype
ACTN2 p.Ala446Glu Uncertain significance Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Ala446Thr Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Ala463Gly Uncertain significance Single submitter
familial hypertrophic cardiomyopathy

Predictors split 286

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 286

ACTN2 p.Ala255Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ala259Thr Uncertain significance Multiple submitters
cardiomyopathy
ACTN2 p.Ala46Ser Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Ala525Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ala705Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Ala747Val Uncertain significance Multiple submitters
myopathy, distal, 6, adult-onset, autosomal dominant
ACTN2 p.Ala833Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ala833Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ala878Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Arg298Cys Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Arg394Gln Uncertain significance Multiple submitters
cardiomyopathy
ACTN2 p.Arg41Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Arg506Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Arg572Gln Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Arg631Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Arg637Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Arg640Cys Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Arg67Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Arg796His Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Arg83Ser Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Arg852Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Asn635Asp Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Asn736Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Asn763Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Asp206Gly Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Asp29Asn Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Asp475Asn Benign/Likely benign Multiple submitters
myopathy, distal, 6, adult-onset, autosomal dominant
ACTN2 p.Asp693Gly Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Asp857His Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Gln22Leu Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Gln498His Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Gln641His Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Gln680Arg Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Glu149Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Glu310Gly Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Glu310Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Glu414Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Glu414Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Glu658Gln Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Glu829Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Gly871Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Gly877Cys Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.His474Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.His518Tyr Likely benign Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.His775Tyr Uncertain significance Multiple submitters
myopathy, distal, 6, adult-onset, autosomal dominant
ACTN2 p.Ile464Met Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ile514Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ile544Val Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Ile59Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ile731Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ile863Val Likely benign Multiple submitters
Cardiovascular phenotype
ACTN2 p.Leu186Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Leu425Pro Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Leu74Met Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Lys383Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Met216Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Pro527Ser Uncertain significance Multiple submitters
ACTN2 p.Pro651Leu Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Pro843Gln Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Pro85Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Pro872Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ser553Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ser600Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ser761Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Ser813Thr Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Ser870Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Ser886Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Tyr12Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Tyr12His Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Tyr688Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Tyr688Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTN2 p.Tyr881Phe Uncertain significance Multiple submitters
familial hypertrophic cardiomyopathy
ACTN2 p.Val235Met Uncertain significance Multiple submitters
dilated cardiomyopathy 1AA
ACTN2 p.Ala108Thr Uncertain significance Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Ala255Val Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Ala290Thr Uncertain significance Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Ala315Asp Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Ala35Thr Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Ala372Val Uncertain significance Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Ala432Pro Uncertain significance Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Ala432Val Conflicting Single submitter
myopathy, congenital, with structured cores and z-line abnormalities
ACTN2 p.Ala452Gly Uncertain significance Single submitter
cardiomyopathy
ACTN2 p.Ala452Thr Uncertain significance Single submitter
Cardiovascular phenotype
ACTN2 p.Ala503Asp Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Ala535Thr Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Ala557Gly Uncertain significance Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Ala634Val Uncertain significance Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Ala648Gly Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Ala661Val Likely benign Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Ala705Val Uncertain significance Single submitter
Cardiovascular phenotype
ACTN2 p.Ala760Val Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Ala795Val Uncertain significance Single submitter
cardiomyopathy
ACTN2 p.Ala823Val Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Ala847Thr Uncertain significance Single submitter
ACTN2 p.Ala847Val Conflicting Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Ala882Gly Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Ala883Val Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Ala98Val Uncertain significance Single submitter
Cardiovascular phenotype
ACTN2 p.Arg169Thr Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Arg288Lys Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Arg299Cys Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Arg299His Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Arg307Gln Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Arg328Gln Conflicting Single submitter
myopathy, congenital, with structured cores and z-line abnormalities
ACTN2 p.Arg328Trp Conflicting Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Arg353Gln Conflicting Single submitter
myopathy, distal, 6, adult-onset, autosomal dominant
ACTN2 p.Arg377Lys Conflicting Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Arg407Gly Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Arg442Gln Conflicting Single submitter
cardiomyopathy
ACTN2 p.Arg482Gln Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Arg482Trp Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Arg572Trp Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Arg608Trp Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Arg631His Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Arg637Cys Conflicting Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Arg637His Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Arg640Leu Uncertain significance Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Arg662Gly Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Arg662Trp Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Arg721Leu Uncertain significance Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Arg767Ser Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Arg768Gly Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Arg851Cys Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Arg851His Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Arg852Gln Conflicting Single submitter
intrinsic cardiomyopathy
ACTN2 p.Asn170His Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Asn170Ser Uncertain significance Single submitter
ACTN2 p.Asn213Lys Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Asn267Ser Uncertain significance Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Asn344Ser Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Asn356Ser Uncertain significance Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Asn478Ile Benign Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Asn480Ser Conflicting Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Asn529Ser Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Asn647Ser Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Asn687Lys Uncertain significance Single submitter
Cardiovascular phenotype
ACTN2 p.Asn710Ser Uncertain significance Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Asn736Asp Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Asn763Ser Benign Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Asp206Tyr Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Asp207Tyr Uncertain significance Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Asp322Asn Uncertain significance Single submitter
Cardiovascular phenotype
ACTN2 p.Asp472Gly Uncertain significance Single submitter
Cardiovascular phenotype
ACTN2 p.Asp481His Uncertain significance Single submitter
Cardiovascular phenotype
ACTN2 p.Asp491Glu Uncertain significance Single submitter
familial hypertrophic cardiomyopathy
ACTN2 p.Asp605Gly Uncertain significance Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Asp612Asn Uncertain significance Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Asp622Asn Conflicting Single submitter
Cardiovascular phenotype
ACTN2 p.Asp693Asn Uncertain significance Single submitter
dilated cardiomyopathy 1AA
ACTN2 p.Asp777Glu Uncertain significance Single submitter

All ACTN2 variants

Pathogenic 5

c.2527-1G>A Single submitter
p.Gln860Ter Single submitter
p.Lys71Ter Single submitter left ventricular noncompaction
p.Arg759Thr No assertion criteria cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction
p.Glu628Gly No assertion criteria cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction

Pathogenic/Likely pathogenic 2

p.Ala119Thr Multiple submitters Cardiovascular phenotype
p.Leu727Arg Multiple submitters myopathy, congenital, with structured cores and z-line abnormalities

Likely pathogenic 18

p.Thr247Met Multiple submitters dilated cardiomyopathy 1AA
c.1840-1G>A Single submitter dilated cardiomyopathy 1AA
c.2301+1G>T Single submitter
c.448+1115_615+666del Single submitter intrinsic cardiomyopathy
c.698-2A>G Single submitter intrinsic cardiomyopathy
p.Ala266fs Single submitter
p.Ala732_Ile742del Single submitter myopathy, congenital, with structured cores and z-line abnormalities
p.Cys487Arg Single submitter myopathy, distal, 6, adult-onset, autosomal dominant
p.Gln460Ter Single submitter dilated cardiomyopathy 1AA
p.Gln626Ter Single submitter dilated cardiomyopathy 1AA
p.Gly118Cys Single submitter
p.Leu104Ter Single submitter dilated cardiomyopathy 1AA
p.Leu390fs Single submitter
p.Leu554fs Single submitter dilated cardiomyopathy 1AA
p.Met228Thr Single submitter Cardiovascular phenotype
p.Pro598fs Single submitter
p.Ser80Ter Single submitter intrinsic cardiomyopathy
p.Glu77Ter No assertion criteria dilated cardiomyopathy 1AA

Conflicting classifications of pathogenicity 200

c.1108-5C>T Single submitter Cardiovascular phenotype
c.1657-6G>A Single submitter familial hypertrophic cardiomyopathy
c.1657-9C>T Single submitter cardiomyopathy
c.1840-5G>A Single submitter Cardiovascular phenotype
c.1975-5C>G Single submitter familial hypertrophic cardiomyopathy
c.1975-5C>T Single submitter Cardiovascular phenotype
c.1975-6C>A Single submitter dilated cardiomyopathy 1AA
c.2367+5G>A Single submitter myopathy, distal, 6, adult-onset, autosomal dominant
c.2367+8A>G Single submitter dilated cardiomyopathy 1AA
c.362-4G>A Single submitter familial hypertrophic cardiomyopathy
c.616-2A>G Single submitter familial hypertrophic cardiomyopathy ⚠
c.616-3C>T Single submitter dilated cardiomyopathy 1AA
c.698-4T>A Single submitter familial hypertrophic cardiomyopathy
c.877-2A>G Single submitter dilated cardiomyopathy 1AA ⚠
c.-18C>A Single submitter
c.-3G>T Single submitter Cardiovascular phenotype
c.*1969C>T Single submitter dilated cardiomyopathy 1AA
p.Ala215= Single submitter familial hypertrophic cardiomyopathy
p.Ala244Val Single submitter dilated cardiomyopathy 1AA ⚠
p.Ala259= Single submitter dilated cardiomyopathy 1AA
p.Ala315Asp Single submitter Cardiovascular phenotype ⚠
p.Ala410Ser Single submitter ACTN2-related disorder ⚠
p.Ala432Val Single submitter myopathy, congenital, with structured cores and z-line abnormalities ⚠
p.Ala446Val Single submitter Cardiovascular phenotype ⚠
p.Ala453Val Single submitter Cardiovascular phenotype ⚠
p.Ala462Ser Single submitter myopathy, distal, 6, adult-onset, autosomal dominant ⚠
p.Ala465Thr Single submitter familial hypertrophic cardiomyopathy ⚠
p.Ala476Ser Single submitter dilated cardiomyopathy 1AA ⚠
p.Ala503Ser Single submitter familial hypertrophic cardiomyopathy ⚠
p.Ala535Thr Single submitter Cardiovascular phenotype ⚠
p.Ala568Gly Single submitter familial hypertrophic cardiomyopathy ⚠
p.Ala630Thr Single submitter dilated cardiomyopathy 1AA ⚠
p.Ala644Thr Single submitter Cardiovascular phenotype ⚠
p.Ala732Thr Single submitter dilated cardiomyopathy 1AA ⚠
p.Ala760Thr Single submitter cardiomyopathy ⚠
p.Ala847Val Single submitter familial hypertrophic cardiomyopathy ⚠
p.Ala868Thr Single submitter dilated cardiomyopathy 1AA ⚠
p.Ala882Thr Single submitter dilated cardiomyopathy 1AA ⚠
p.Ala883Val Single submitter dilated cardiomyopathy 1AA ⚠
p.Ala887Thr Single submitter Cardiovascular phenotype ⚠
p.Arg140His Single submitter dilated cardiomyopathy 1AA ⚠
p.Arg169Thr Single submitter Cardiovascular phenotype ⚠
p.Arg192Gln Single submitter Cardiovascular phenotype ⚠
p.Arg192Ter Single submitter Left ventricular noncompaction cardiomyopathy ⚠
p.Arg298His Single submitter Cardiovascular phenotype ⚠
p.Arg299Cys Single submitter Cardiovascular phenotype ⚠
p.Arg299His Single submitter dilated cardiomyopathy 1AA ⚠
p.Arg307Gln Single submitter dilated cardiomyopathy 1AA ⚠
p.Arg327His Single submitter dilated cardiomyopathy 1AA ⚠
p.Arg328Gln Single submitter myopathy, congenital, with structured cores and z-line abnormalities ⚠
p.Arg328Trp Single submitter familial hypertrophic cardiomyopathy ⚠
p.Arg353Gln Single submitter myopathy, distal, 6, adult-onset, autosomal dominant ⚠
p.Arg353Trp Single submitter Cardiovascular phenotype ⚠
p.Arg377Lys Single submitter familial hypertrophic cardiomyopathy ⚠
p.Arg394Trp Single submitter dilated cardiomyopathy 1AA ⚠
p.Arg398Cys Single submitter dilated cardiomyopathy 1AA ⚠
p.Arg398His Single submitter Cardiovascular phenotype ⚠
p.Arg438Gln Single submitter dilated cardiomyopathy 1AA ⚠
p.Arg438Trp Single submitter Cardiovascular phenotype ⚠
p.Arg442Gln Single submitter cardiomyopathy ⚠
p.Arg442Trp Single submitter familial hypertrophic cardiomyopathy ⚠
p.Arg457Cys Single submitter Cardiovascular phenotype ⚠
p.Arg482Gln Single submitter Cardiovascular phenotype ⚠
p.Arg482Gly Single submitter familial hypertrophic cardiomyopathy ⚠
p.Arg482Trp Single submitter Cardiovascular phenotype ⚠
p.Arg572Trp Single submitter Cardiovascular phenotype ⚠
p.Arg608Gln Single submitter Cardiovascular phenotype ⚠
p.Arg608Trp Single submitter Cardiovascular phenotype ⚠
p.Arg621= Single submitter Cardiovascular phenotype
p.Arg621Cys Single submitter dilated cardiomyopathy 1AA ⚠
p.Arg621His Single submitter Cardiovascular phenotype ⚠
p.Arg631His Single submitter dilated cardiomyopathy 1AA ⚠
p.Arg637Cys Single submitter familial hypertrophic cardiomyopathy ⚠
p.Arg637His Single submitter Cardiovascular phenotype ⚠
p.Arg662Gln Single submitter Cardiovascular phenotype ⚠
p.Arg662Gly Single submitter dilated cardiomyopathy 1AA ⚠
p.Arg662Trp Single submitter dilated cardiomyopathy 1AA ⚠
p.Arg721His Single submitter Cardiovascular phenotype ⚠
p.Arg721Ser Single submitter Cardiovascular phenotype ⚠
p.Arg836= Single submitter dilated cardiomyopathy 1AA
p.Arg836Gln Single submitter Cardiovascular phenotype ⚠
p.Arg836Trp Single submitter familial hypertrophic cardiomyopathy ⚠
p.Arg851Cys Single submitter Cardiovascular phenotype ⚠
p.Arg851His Single submitter Cardiovascular phenotype ⚠
p.Arg852Gln Single submitter intrinsic cardiomyopathy ⚠
p.Arg865Thr Single submitter familial hypertrophic cardiomyopathy ⚠
p.Arg93Gln Single submitter Cardiovascular phenotype ⚠
p.Asn170His Single submitter Cardiovascular phenotype ⚠
p.Asn306= Single submitter dilated cardiomyopathy 1AA
p.Asn344Ser Single submitter Cardiovascular phenotype ⚠
p.Asn391Ser Single submitter dilated cardiomyopathy 1AA ⚠
p.Asn480Ser Single submitter dilated cardiomyopathy 1AA ⚠
p.Asn529Ser Single submitter Cardiovascular phenotype ⚠
p.Asn530Ser Single submitter Cardiovascular phenotype ⚠
p.Asn580Lys Single submitter familial hypertrophic cardiomyopathy ⚠
p.Asn590Ser Single submitter dilated cardiomyopathy 1AA ⚠
p.Asn684= Single submitter Cardiovascular phenotype
p.Asn684Ile Single submitter dilated cardiomyopathy 1AA ⚠
p.Asn690Ser Single submitter dilated cardiomyopathy 1AA ⚠
p.Asp15Asn Single submitter Cardiovascular phenotype ⚠
p.Asp182= Single submitter dilated cardiomyopathy 1AA
p.Asp230Glu Single submitter Cardiovascular phenotype ⚠
p.Asp450Asn Single submitter dilated cardiomyopathy 1AA ⚠
p.Asp569Glu Single submitter dilated cardiomyopathy 1AA ⚠
p.Asp622Asn Single submitter Cardiovascular phenotype ⚠
p.Asp816Asn Single submitter familial hypertrophic cardiomyopathy ⚠
p.Asp826Val Single submitter Cardiovascular phenotype ⚠
p.Asp841fs Single submitter myopathy, distal, 6, adult-onset, autosomal dominant ⚠
p.Asp893Asn Single submitter Cardiovascular phenotype ⚠
p.Asp893Gly Single submitter dilated cardiomyopathy 1AA ⚠
p.Gln349Leu Single submitter dilated cardiomyopathy 1AA ⚠
p.Gln484= Single submitter Cardiovascular phenotype
p.Gln703Leu Single submitter Cardiovascular phenotype ⚠
p.Gln858Pro Single submitter dilated cardiomyopathy 1AA ⚠
p.Gln9Arg Single submitter myopathy, congenital, with structured cores and z-line abnormalities ⚠
p.Glu16Lys Single submitter familial hypertrophic cardiomyopathy ⚠
p.Glu260Asp Single submitter familial hypertrophic cardiomyopathy ⚠
p.Glu342Gly Single submitter dilated cardiomyopathy 1AA ⚠
p.Glu364Lys Single submitter dilated cardiomyopathy 1AA ⚠
p.Glu382Gly Single submitter Cardiovascular phenotype ⚠
p.Glu430Gln Single submitter dilated cardiomyopathy 1AA ⚠
p.Glu436Ala Single submitter familial hypertrophic cardiomyopathy ⚠
p.Glu445Lys Single submitter familial hypertrophic cardiomyopathy ⚠
p.Glu448Gln Single submitter dilated cardiomyopathy 1AA ⚠
p.Glu549Val Single submitter Cardiovascular phenotype ⚠
p.Glu583Ala Single submitter dilated cardiomyopathy 1AA ⚠
p.Glu737Asp Single submitter Cardiovascular phenotype ⚠
p.Gly111Arg Single submitter Cardiovascular phenotype ⚠
p.Gly373Ser Single submitter dilated cardiomyopathy 1AA ⚠
p.Gly56Ser Single submitter dilated cardiomyopathy 1AA ⚠
p.Gly650Arg Single submitter Cardiovascular phenotype ⚠
p.Gly7= Single submitter myopathy, congenital, with structured cores and z-line abnormalities
p.Gly873Arg Single submitter Cardiovascular phenotype ⚠
p.Gly890Arg Single submitter familial hypertrophic cardiomyopathy ⚠
p.His474Tyr Single submitter Cardiovascular phenotype ⚠
p.His633Gln Single submitter dilated cardiomyopathy 1AA ⚠
p.Ile134Thr Single submitter Cardiovascular phenotype ⚠
p.Ile173Val Single submitter Cardiovascular phenotype ⚠
p.Ile234= Single submitter Cardiovascular phenotype
p.Ile464Val Single submitter dilated cardiomyopathy 1AA ⚠
p.Ile591Val Single submitter myopathy, congenital, with structured cores and z-line abnormalities ⚠
p.Ile593Thr Single submitter Cardiovascular phenotype ⚠
p.Ile620Val Single submitter dilated cardiomyopathy 1AA ⚠
p.Ile649Thr Single submitter dilated cardiomyopathy 1AA ⚠
p.Ile649Val Single submitter dilated cardiomyopathy 1AA ⚠
p.Ile685Thr Single submitter myopathy, congenital, with structured cores and z-line abnormalities ⚠
p.Ile686Val Single submitter Cardiovascular phenotype ⚠
p.Ile832= Single submitter Cardiovascular phenotype
p.Leu186Phe Single submitter Cardiovascular phenotype ⚠
p.Leu441= Single submitter dilated cardiomyopathy 1AA
p.Leu517Phe Single submitter Cardiovascular phenotype ⚠
p.Leu727Val Single submitter dilated cardiomyopathy 1AA ⚠
p.Lys366Asn Single submitter dilated cardiomyopathy 1AA ⚠
p.Lys679Gln Single submitter Cardiovascular phenotype ⚠
p.Lys694Asn Single submitter Cardiovascular phenotype ⚠
p.Lys769Thr Single submitter Cardiovascular phenotype ⚠
p.Met313Leu Single submitter myopathy, congenital, with structured cores and z-line abnormalities ⚠
p.Met316Thr Single submitter dilated cardiomyopathy 1AA ⚠
p.Met361Val Single submitter dilated cardiomyopathy 1AA ⚠
p.Met367Val Single submitter familial hypertrophic cardiomyopathy ⚠
p.Met507Val Single submitter dilated cardiomyopathy 1AA ⚠
p.Met542Arg Single submitter dilated cardiomyopathy 1AA ⚠
p.Met542Thr Single submitter dilated cardiomyopathy 1AA ⚠
p.Met542Val Single submitter familial hypertrophic cardiomyopathy ⚠
p.Met576Thr Single submitter congestive heart failure ⚠
p.Met604Ile Single submitter dilated cardiomyopathy 1AA ⚠
p.Met657Leu Single submitter Cardiovascular phenotype ⚠
p.Met675Thr Single submitter dilated cardiomyopathy 1AA ⚠
p.Phe817Leu Single submitter Cardiovascular phenotype ⚠
p.Pro309Leu Single submitter Cardiovascular phenotype ⚠
p.Pro598Leu Single submitter Cardiovascular phenotype ⚠
p.Pro856= Single submitter dilated cardiomyopathy 1AA
p.Pro856Leu Single submitter dilated cardiomyopathy 1AA ⚠
p.Pro867= Single submitter dilated cardiomyopathy 1AA
p.Ser147Leu Single submitter familial hypertrophic cardiomyopathy ⚠
p.Ser250Phe Single submitter Cardiovascular phenotype ⚠
p.Ser369= Single submitter cardiomyopathy
p.Ser369Leu Single submitter dilated cardiomyopathy 1AA ⚠
p.Ser431Leu Single submitter Cardiovascular phenotype ⚠
p.Ser433Trp Single submitter familial hypertrophic cardiomyopathy ⚠
p.Thr300Met Single submitter Cardiovascular phenotype ⚠
p.Thr347Met Single submitter hypertrophic cardiomyopathy ⚠
p.Thr412Met Single submitter Cardiovascular phenotype ⚠
p.Thr495Met Single submitter Cardiovascular phenotype ⚠
p.Thr564Met Single submitter Cardiovascular phenotype ⚠
p.Thr668Arg Single submitter Cardiovascular phenotype ⚠
p.Thr716Met Single submitter Cardiovascular phenotype ⚠
p.Thr744Met Single submitter cardiomyopathy ⚠
p.Thr751Ile Single submitter familial hypertrophic cardiomyopathy ⚠
p.Thr808Ile Single submitter dilated cardiomyopathy 1AA ⚠
p.Thr808Ser Single submitter Cardiovascular phenotype ⚠
p.Trp388Arg Single submitter Cardiovascular phenotype ⚠
p.Tyr429= Single submitter familial hypertrophic cardiomyopathy
p.Val249Ile Single submitter Cardiovascular phenotype ⚠
p.Val368= Single submitter cardiomyopathy
p.Val458Met Single submitter dilated cardiomyopathy 1AA ⚠
p.Val602Ile Single submitter dilated cardiomyopathy 1AA ⚠
p.Val618Met Single submitter dilated cardiomyopathy 1AA ⚠
p.Val738= Single submitter dilated cardiomyopathy 1AA
p.Val809Ile Single submitter familial hypertrophic cardiomyopathy ⚠

Benign 106

c.1107+123T>C Multiple submitters
c.1107+33A>C Multiple submitters myopathy, congenital, with structured cores and z-line abnormalities
c.1256-79G>A Multiple submitters
c.126+14C>T Multiple submitters dilated cardiomyopathy 1AA
c.1406+68T>C Multiple submitters
c.1407-104T>C Multiple submitters
c.1515+146G>T Multiple submitters
c.1515+268C>T Multiple submitters
c.1515+47C>T Multiple submitters
c.1515+62A>G Multiple submitters
c.1516-138G>A Multiple submitters
c.1656+33A>G Multiple submitters
c.1656+92G>T Multiple submitters
c.1657-160G>C Multiple submitters
c.1657-16T>C Multiple submitters dilated cardiomyopathy 1AA
c.1975-6C>G Multiple submitters dilated cardiomyopathy 1AA
c.2301+248A>G Multiple submitters
c.2301+28A>G Multiple submitters
c.2367+108C>T Multiple submitters
c.2368-17T>C Multiple submitters familial hypertrophic cardiomyopathy
c.241+131C>T Multiple submitters myopathy, congenital, with structured cores and z-line abnormalities
c.241+135T>C Multiple submitters
c.242-84G>A Multiple submitters myopathy, congenital, with structured cores and z-line abnormalities
c.2526+267T>C Multiple submitters
c.2526+33A>G Multiple submitters myopathy, congenital, with structured cores and z-line abnormalities
c.361+96C>T Multiple submitters
c.362-165T>C Multiple submitters
c.362-244A>G Multiple submitters
c.362-256C>T Multiple submitters
c.448+73G>A Multiple submitters myopathy, congenital, with structured cores and z-line abnormalities
c.449-122G>C Multiple submitters
c.536+10C>T Multiple submitters dilated cardiomyopathy 1AA
c.537-197A>G Multiple submitters
c.697+33G>A Multiple submitters myopathy, congenital, with structured cores and z-line abnormalities
c.698-1068T>C Multiple submitters
c.698-1302A>G Multiple submitters
c.783+22G>A Multiple submitters
c.784-404G>A Multiple submitters
c.784-518del Multiple submitters
c.876+84C>T Multiple submitters
c.877-42C>G Multiple submitters
c.877-42C>T Multiple submitters myopathy, congenital, with structured cores and z-line abnormalities
c.877-99T>C Multiple submitters
p.Asn126= Multiple submitters familial hypertrophic cardiomyopathy
p.Ile117= Multiple submitters familial hypertrophic cardiomyopathy
c.1255+321G>A Single submitter
c.126+11del Single submitter familial hypertrophic cardiomyopathy
c.126+11dup Single submitter dilated cardiomyopathy 1AA
c.126+157A>G Single submitter
c.126+331G>C Single submitter
c.1406+18C>G Single submitter familial hypertrophic cardiomyopathy
c.1407-128A>G Single submitter
c.1516-205G>T Single submitter
c.1656+258C>T Single submitter
c.1656+275A>G Single submitter
c.1657-194C>T Single submitter
c.1657-243dup Single submitter
c.1839+255G>A Single submitter
c.1975-314T>C Single submitter
c.1975-5del Single submitter familial hypertrophic cardiomyopathy
c.1975-5dup Single submitter dilated cardiomyopathy 1AA
c.2154+246C>A Single submitter
c.2155-11dup Single submitter dilated cardiomyopathy 1AA
c.2155-245T>A Single submitter
c.2367+210A>G Single submitter
c.2367+301C>A Single submitter
c.2368-3del Single submitter familial hypertrophic cardiomyopathy
c.241+12A>T Single submitter dilated cardiomyopathy 1AA
c.241+302G>T Single submitter
c.2526+260GT[10] Single submitter
c.2526+260GT[14] Single submitter
c.2526+260GT[15] Single submitter
c.2526+260GT[16] Single submitter
c.2526+260GT[17] Single submitter
c.2527-6del Single submitter familial hypertrophic cardiomyopathy
c.2527-6dup Single submitter familial hypertrophic cardiomyopathy
c.362-12dup Single submitter familial hypertrophic cardiomyopathy
c.448+195G>T Single submitter
c.449-290dup Single submitter
c.449-292_449-290del Single submitter
c.536+18del Single submitter familial hypertrophic cardiomyopathy
c.536+270G>A Single submitter
c.537-161_537-159del Single submitter
c.615+205G>A Single submitter
c.698-1428C>T Single submitter
c.698-248del Single submitter
c.698-6del Single submitter dilated cardiomyopathy 1AA
c.698-900T>C Single submitter
c.784-463A>G Single submitter
c.784-524del Single submitter familial hypertrophic cardiomyopathy
c.876+222C>T Single submitter
c.876+85A>T Single submitter
c.876+85AT[11] Single submitter
c.877-238C>T Single submitter
c.877-59_877-58del Single submitter
c.877-8= Single submitter
c.-510C>T Single submitter
c.-98CGCCGCC[4] Single submitter
c.*396G>A Single submitter
p.Ala705= Single submitter dilated cardiomyopathy 1AA
p.Asn478Ile Single submitter familial hypertrophic cardiomyopathy ⚠
p.Asn763Ser Single submitter dilated cardiomyopathy 1AA ⚠
p.Asp826Asn Single submitter dilated cardiomyopathy 1AA
p.Gln741Arg Single submitter dilated cardiomyopathy 1AA
p.Lys351Asn Single submitter myopathy, congenital, with structured cores and z-line abnormalities ⚠
p.Lys38Arg Single submitter dilated cardiomyopathy 1AA ⚠

Benign/Likely benign 48

c.1406+8C>T Multiple submitters dilated cardiomyopathy 1AA
c.1515+15C>T Multiple submitters myopathy, distal, 6, adult-onset, autosomal dominant
c.1974+10C>T Multiple submitters familial hypertrophic cardiomyopathy
c.1975-12C>T Multiple submitters familial hypertrophic cardiomyopathy
c.241+4G>A Multiple submitters Cardiovascular phenotype
c.2526+8T>C Multiple submitters familial hypertrophic cardiomyopathy
c.615+15C>T Multiple submitters dilated cardiomyopathy 1AA
c.877-6G>A Multiple submitters myopathy, distal, 6, adult-onset, autosomal dominant
c.877-8C>G Multiple submitters myopathy, congenital, with structured cores and z-line abnormalities
c.-22C>T Multiple submitters dilated cardiomyopathy 1AA
c.*111A>G Multiple submitters
p.Ala290= Multiple submitters Cardiovascular phenotype
p.Ala476Thr Multiple submitters Cardiovascular phenotype
p.Ala55= Multiple submitters Cardiovascular phenotype
p.Ala568= Multiple submitters Cardiovascular phenotype
p.Ala644= Multiple submitters cardiomyopathy
p.Ala847= Multiple submitters dilated cardiomyopathy 1AA
p.Ala883= Multiple submitters Cardiovascular phenotype
p.Arg745= Multiple submitters Cardiovascular phenotype
p.Arg93= Multiple submitters Cardiovascular phenotype
p.Asn101= Multiple submitters familial hypertrophic cardiomyopathy
p.Asp475= Multiple submitters Cardiovascular phenotype
p.Asp475Asn Multiple submitters myopathy, distal, 6, adult-onset, autosomal dominant ⚠
p.Gln484His Multiple submitters Cardiovascular phenotype
p.Gln700= Multiple submitters dilated cardiomyopathy 1AA
p.Gln812= Multiple submitters Cardiovascular phenotype
p.Glu583Gly Multiple submitters Cardiovascular phenotype
p.Gly118= Multiple submitters Cardiovascular phenotype
p.His444= Multiple submitters cardiomyopathy
p.His474= Multiple submitters familial hypertrophic cardiomyopathy
p.His95= Multiple submitters dilated cardiomyopathy 1AA
p.Ile461= Multiple submitters Cardiovascular phenotype
p.Ile62= Multiple submitters Cardiovascular phenotype
p.Ile692= Multiple submitters myopathy, distal, 6, adult-onset, autosomal dominant
p.Ile815= Multiple submitters Cardiovascular phenotype
p.Met604Val Multiple submitters Cardiovascular phenotype
p.Phe447= Multiple submitters Cardiovascular phenotype
p.Pro598= Multiple submitters Cardiovascular phenotype
p.Pro6= Multiple submitters Cardiovascular phenotype
p.Ser147= Multiple submitters Cardiovascular phenotype
p.Ser431= Multiple submitters Cardiovascular phenotype
p.Ser433Leu Multiple submitters Cardiovascular phenotype
p.Ser870= Multiple submitters Cardiovascular phenotype
p.Thr300= Multiple submitters dilated cardiomyopathy 1AA
p.Thr415= Multiple submitters Cardiovascular phenotype
p.Thr713= Multiple submitters Cardiovascular phenotype
p.Tyr248= Multiple submitters dilated cardiomyopathy 1AA
p.Leu504= No assertion criteria

Likely benign 568

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

c.1255+95C>T Multiple submitters
c.1256-115C>G Multiple submitters
c.1256-8C>T Multiple submitters dilated cardiomyopathy 1AA
c.1406+18C>T Multiple submitters dilated cardiomyopathy 1AA
c.1407-9T>C Multiple submitters dilated cardiomyopathy 1AA
c.1515+221T>A Multiple submitters
c.1656+12G>T Multiple submitters dilated cardiomyopathy 1AA
c.1656+159G>A Multiple submitters
c.1840-211T>C Multiple submitters
c.1974+11G>A Multiple submitters dilated cardiomyopathy 1AA
c.2154+19C>A Multiple submitters dilated cardiomyopathy 1AA
c.2368-25A>T Multiple submitters
c.242-4A>T Multiple submitters Cardiovascular phenotype
c.242-6C>T Multiple submitters dilated cardiomyopathy 1AA
c.2527-18G>A Multiple submitters dilated cardiomyopathy 1AA
c.362-8A>C Multiple submitters dilated cardiomyopathy 1AA
c.537-13G>A Multiple submitters dilated cardiomyopathy 1AA
c.537-14C>T Multiple submitters myopathy, congenital, with structured cores and z-line abnormalities
c.537-16C>T Multiple submitters dilated cardiomyopathy 1AA
c.537-4G>A Multiple submitters familial hypertrophic cardiomyopathy
c.698-1009G>A Multiple submitters
c.698-1180C>T Multiple submitters
c.783+17C>T Multiple submitters familial hypertrophic cardiomyopathy
c.783+681G>A Multiple submitters
c.784-157T>A Multiple submitters
c.784-4A>G Multiple submitters familial hypertrophic cardiomyopathy
c.876+40C>T Multiple submitters
c.*46C>T Multiple submitters dilated cardiomyopathy 1AA
p.Ala188= Multiple submitters familial hypertrophic cardiomyopathy
p.Ala265= Multiple submitters familial hypertrophic cardiomyopathy
p.Ala446= Multiple submitters dilated cardiomyopathy 1AA
p.Ala453= Multiple submitters Cardiovascular phenotype
p.Ala557= Multiple submitters dilated cardiomyopathy 1AA
p.Ala577= Multiple submitters Cardiovascular phenotype
p.Ala646= Multiple submitters Cardiovascular phenotype
p.Ala661= Multiple submitters cardiomyopathy
p.Ala670= Multiple submitters familial hypertrophic cardiomyopathy
p.Ala792= Multiple submitters Cardiovascular phenotype
p.Ala828= Multiple submitters Cardiovascular phenotype
p.Ala859= Multiple submitters Cardiovascular phenotype
p.Ala887= Multiple submitters Cardiovascular phenotype
p.Arg194= Multiple submitters familial hypertrophic cardiomyopathy
p.Arg298= Multiple submitters dilated cardiomyopathy 1AA
p.Arg457= Multiple submitters Cardiovascular phenotype
p.Arg482= Multiple submitters familial hypertrophic cardiomyopathy
p.Arg631= Multiple submitters Cardiovascular phenotype
p.Asn170= Multiple submitters Cardiovascular phenotype
p.Asn478= Multiple submitters Cardiovascular phenotype
p.Asn580= Multiple submitters dilated cardiomyopathy 1AA
p.Asn635= Multiple submitters dilated cardiomyopathy 1AA
p.Asn804= Multiple submitters cardiomyopathy
p.Asp428= Multiple submitters Cardiovascular phenotype
p.Asp472= Multiple submitters Cardiovascular phenotype
p.Asp538= Multiple submitters Cardiovascular phenotype
p.Asp541= Multiple submitters Cardiovascular phenotype
p.Asp569= Multiple submitters dilated cardiomyopathy 1AA
p.Asp709= Multiple submitters dilated cardiomyopathy 1AA
p.Cys251= Multiple submitters dilated cardiomyopathy 1AA
p.Gln22= Multiple submitters dilated cardiomyopathy 1AA
p.Gln426= Multiple submitters dilated cardiomyopathy 1AA
p.Gln489= Multiple submitters Cardiovascular phenotype
p.Gln573= Multiple submitters Cardiovascular phenotype
p.Gln587= Multiple submitters dilated cardiomyopathy 1AA
p.Glu16= Multiple submitters Cardiovascular phenotype
p.Glu278= Multiple submitters Cardiovascular phenotype
p.Glu310= Multiple submitters dilated cardiomyopathy 1AA
p.Glu421= Multiple submitters dilated cardiomyopathy 1AA
p.Glu430= Multiple submitters familial hypertrophic cardiomyopathy
p.Glu737= Multiple submitters Cardiovascular phenotype
p.Gly111= Multiple submitters Cardiovascular phenotype
p.Gly125= Multiple submitters Cardiovascular phenotype
p.Gly183= Multiple submitters Cardiovascular phenotype
p.Gly210= Multiple submitters Cardiovascular phenotype
p.Gly258= Multiple submitters familial hypertrophic cardiomyopathy
p.Gly534= Multiple submitters familial hypertrophic cardiomyopathy
p.Gly570= Multiple submitters Cardiovascular phenotype
p.Gly749= Multiple submitters familial hypertrophic cardiomyopathy
p.His254= Multiple submitters dilated cardiomyopathy 1AA
p.His51= Multiple submitters familial hypertrophic cardiomyopathy
p.His518Tyr Multiple submitters dilated cardiomyopathy 1AA ⚠
p.His719= Multiple submitters dilated cardiomyopathy 1AA
p.His764= Multiple submitters Cardiovascular phenotype
p.Ile138= Multiple submitters familial hypertrophic cardiomyopathy
p.Ile190= Multiple submitters Cardiovascular phenotype
p.Ile354= Multiple submitters Cardiovascular phenotype
p.Ile464= Multiple submitters Cardiovascular phenotype
p.Ile591Met Multiple submitters dilated cardiomyopathy 1AA
p.Ile660= Multiple submitters Cardiovascular phenotype
p.Ile667= Multiple submitters Cardiovascular phenotype
p.Ile702= Multiple submitters Cardiovascular phenotype
p.Ile735= Multiple submitters dilated cardiomyopathy 1AA
p.Ile797= Multiple submitters Cardiovascular phenotype
p.Ile863Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu114= Multiple submitters dilated cardiomyopathy 1AA
p.Leu223= Multiple submitters dilated cardiomyopathy 1AA
p.Leu352= Multiple submitters dilated cardiomyopathy 1AA
p.Leu424= Multiple submitters Cardiovascular phenotype
p.Leu434= Multiple submitters dilated cardiomyopathy 1AA
p.Leu519= Multiple submitters familial hypertrophic cardiomyopathy
p.Leu565= Multiple submitters Cardiovascular phenotype
p.Leu727= Multiple submitters Cardiovascular phenotype
p.Leu854= Multiple submitters Cardiovascular phenotype
p.Lys329= Multiple submitters dilated cardiomyopathy 1AA
p.Lys405= Multiple submitters Cardiovascular phenotype
p.Phe141= Multiple submitters Cardiovascular phenotype
p.Phe176= Multiple submitters Cardiovascular phenotype
p.Phe323= Multiple submitters Cardiovascular phenotype
p.Pro167= Multiple submitters Cardiovascular phenotype
p.Pro240= Multiple submitters Cardiovascular phenotype
p.Pro309= Multiple submitters Cardiovascular phenotype
p.Pro566= Multiple submitters dilated cardiomyopathy 1AA
p.Pro619= Multiple submitters dilated cardiomyopathy 1AA
p.Pro85= Multiple submitters Cardiovascular phenotype
p.Pro872= Multiple submitters Cardiovascular phenotype
p.Ser363= Multiple submitters Cardiovascular phenotype
p.Ser433= Multiple submitters Cardiovascular phenotype
p.Ser449= Multiple submitters dilated cardiomyopathy 1AA
p.Ser596= Multiple submitters Cardiovascular phenotype
p.Ser840= Multiple submitters dilated cardiomyopathy 1AA
p.Ser886= Multiple submitters Cardiovascular phenotype
p.Ser892= Multiple submitters Cardiovascular phenotype
p.Thr412= Multiple submitters dilated cardiomyopathy 1AA
p.Thr435= Multiple submitters myopathy, distal, 6, adult-onset, autosomal dominant
p.Thr564= Multiple submitters Cardiovascular phenotype
p.Thr716= Multiple submitters Cardiovascular phenotype
p.Thr730= Multiple submitters Cardiovascular phenotype
p.Thr808= Multiple submitters Cardiovascular phenotype
p.Thr822= Multiple submitters dilated cardiomyopathy 1AA
p.Thr825= Multiple submitters Cardiovascular phenotype
p.Tyr106= Multiple submitters Cardiovascular phenotype
p.Tyr168= Multiple submitters Cardiovascular phenotype
p.Tyr385= Multiple submitters Cardiovascular phenotype
p.Tyr599= Multiple submitters dilated cardiomyopathy 1AA
p.Tyr881= Multiple submitters Cardiovascular phenotype
p.Tyr889= Multiple submitters dilated cardiomyopathy 1AA
p.Val437= Multiple submitters dilated cardiomyopathy 1AA
p.Val614= Multiple submitters Cardiovascular phenotype
p.Val8Met Multiple submitters dilated cardiomyopathy 1AA
c.1107+12G>A Single submitter familial hypertrophic cardiomyopathy
c.1107+13C>T Single submitter dilated cardiomyopathy 1AA
c.1107+14G>A Single submitter familial hypertrophic cardiomyopathy
c.1107+15C>T Single submitter dilated cardiomyopathy 1AA
c.1107+16C>G Single submitter familial hypertrophic cardiomyopathy
c.1107+17A>G Single submitter familial hypertrophic cardiomyopathy
c.1107+18A>C Single submitter dilated cardiomyopathy 1AA
c.1107+19G>A Single submitter dilated cardiomyopathy 1AA
c.1107+20C>T Single submitter familial hypertrophic cardiomyopathy
c.1107+7A>G Single submitter dilated cardiomyopathy 1AA
c.1107+8G>A Single submitter familial hypertrophic cardiomyopathy
c.1108-17G>A Single submitter familial hypertrophic cardiomyopathy
c.1108-18G>T Single submitter familial hypertrophic cardiomyopathy
c.1108-20T>A Single submitter familial hypertrophic cardiomyopathy
c.1108-20T>G Single submitter dilated cardiomyopathy 1AA
c.1108-230C>T Single submitter
c.1108-247T>C Single submitter
c.1108-301G>T Single submitter
c.1108-9C>T Single submitter familial hypertrophic cardiomyopathy
c.1255+12G>A Single submitter dilated cardiomyopathy 1AA
c.1255+13G>C Single submitter familial hypertrophic cardiomyopathy
c.1255+15G>A Single submitter
c.1255+20A>G Single submitter familial hypertrophic cardiomyopathy
c.1255+281T>C Single submitter
c.1255+8G>T Single submitter dilated cardiomyopathy 1AA
c.1256-11C>T Single submitter familial hypertrophic cardiomyopathy
c.1256-12C>T Single submitter dilated cardiomyopathy 1AA
c.1256-13A>T Single submitter dilated cardiomyopathy 1AA
c.1256-15C>T Single submitter familial hypertrophic cardiomyopathy
c.1256-18T>A Single submitter familial hypertrophic cardiomyopathy
c.1256-19C>T Single submitter dilated cardiomyopathy 1AA
c.1256-20T>C Single submitter familial hypertrophic cardiomyopathy
c.1256-20T>G Single submitter dilated cardiomyopathy 1AA
c.1256-4G>A Single submitter dilated cardiomyopathy 1AA
c.1256-9C>A Single submitter familial hypertrophic cardiomyopathy
c.126+13C>G Single submitter dilated cardiomyopathy 1AA
c.126+15G>A Single submitter dilated cardiomyopathy 1AA
c.126+16C>T Single submitter dilated cardiomyopathy 1AA
c.126+17G>C Single submitter dilated cardiomyopathy 1AA
c.126+17G>T Single submitter dilated cardiomyopathy 1AA
c.126+21_126+56del Single submitter dilated cardiomyopathy 1AA
c.127-11T>G Single submitter dilated cardiomyopathy 1AA
c.127-13G>C Single submitter dilated cardiomyopathy 1AA
c.127-15T>C Single submitter dilated cardiomyopathy 1AA
c.127-20G>A Single submitter dilated cardiomyopathy 1AA
c.127-271A>G Single submitter
c.127-8C>G Single submitter dilated cardiomyopathy 1AA
c.1406+19C>T Single submitter dilated cardiomyopathy 1AA
c.1406+20G>A Single submitter dilated cardiomyopathy 1AA
c.1407-12C>A Single submitter dilated cardiomyopathy 1AA
c.1407-15T>G Single submitter familial hypertrophic cardiomyopathy
c.1407-335A>G Single submitter
c.1515+17A>C Single submitter dilated cardiomyopathy 1AA
c.1515+18C>G Single submitter familial hypertrophic cardiomyopathy
c.1515+8A>C Single submitter familial hypertrophic cardiomyopathy
c.1516-10T>C Single submitter
c.1516-14T>C Single submitter dilated cardiomyopathy 1AA
c.1516-9A>G Single submitter dilated cardiomyopathy 1AA
c.1656+10C>A Single submitter familial hypertrophic cardiomyopathy
c.1656+10C>T Single submitter dilated cardiomyopathy 1AA
c.1656+11C>T Single submitter dilated cardiomyopathy 1AA
c.1656+12G>A Single submitter dilated cardiomyopathy 1AA
c.1656+16del Single submitter dilated cardiomyopathy 1AA
c.1656+2_1656+8dup Single submitter dilated cardiomyopathy 1AA
c.1656+20_1656+21del Single submitter familial hypertrophic cardiomyopathy
c.1657-15G>A Single submitter familial hypertrophic cardiomyopathy
c.1657-19A>C Single submitter dilated cardiomyopathy 1AA
c.1657-19A>G Single submitter dilated cardiomyopathy 1AA
c.1657-204G>A Single submitter
c.1657-29_1657-26del Single submitter
c.1657-3dup Single submitter dilated cardiomyopathy 1AA
c.1657-6G>T Single submitter dilated cardiomyopathy 1AA
c.1839+13G>C Single submitter familial hypertrophic cardiomyopathy
c.1839+15del Single submitter familial hypertrophic cardiomyopathy
c.1839+18T>C Single submitter familial hypertrophic cardiomyopathy
c.1839+20G>C Single submitter dilated cardiomyopathy 1AA
c.1839+256T>C Single submitter
c.1840-10G>A Single submitter dilated cardiomyopathy 1AA
c.1840-10G>T Single submitter dilated cardiomyopathy 1AA
c.1840-11G>C Single submitter dilated cardiomyopathy 1AA
c.1840-11G>T Single submitter familial hypertrophic cardiomyopathy
c.1974+12C>T Single submitter dilated cardiomyopathy 1AA
c.1974+136C>T Single submitter
c.1974+13C>T Single submitter
c.1974+14C>T Single submitter dilated cardiomyopathy 1AA
c.1974+16C>T Single submitter dilated cardiomyopathy 1AA
c.1974+17C>T Single submitter familial hypertrophic cardiomyopathy
c.1974+20G>T Single submitter dilated cardiomyopathy 1AA
c.1974+60G>A Single submitter
c.1975-10C>A Single submitter dilated cardiomyopathy 1AA
c.1975-10C>T Single submitter familial hypertrophic cardiomyopathy
c.1975-11G>A Single submitter dilated cardiomyopathy 1AA
c.1975-13_1975-9del Single submitter familial hypertrophic cardiomyopathy
c.1975-17T>C Single submitter familial hypertrophic cardiomyopathy
c.1975-5C>A Single submitter familial hypertrophic cardiomyopathy
c.1975-6C>T Single submitter familial hypertrophic cardiomyopathy
c.1975-7C>A Single submitter dilated cardiomyopathy 1AA
c.1975-7C>T Single submitter dilated cardiomyopathy 1AA
c.1975-8C>T Single submitter dilated cardiomyopathy 1AA
c.2154+12A>G Single submitter dilated cardiomyopathy 1AA
c.2154+16A>C Single submitter familial hypertrophic cardiomyopathy
c.2154+16A>G Single submitter dilated cardiomyopathy 1AA
c.2154+20G>A Single submitter familial hypertrophic cardiomyopathy
c.2155-10C>G Single submitter dilated cardiomyopathy 1AA
c.2155-11T>G Single submitter dilated cardiomyopathy 1AA
c.2155-13_2155-7del Single submitter dilated cardiomyopathy 1AA
c.2155-13T>C Single submitter dilated cardiomyopathy 1AA
c.2155-15C>T Single submitter familial hypertrophic cardiomyopathy
c.2155-17C>T Single submitter dilated cardiomyopathy 1AA
c.2155-31A>G Single submitter
c.2155-322T>G Single submitter
c.2155-6C>G Single submitter dilated cardiomyopathy 1AA
c.2155-8C>T Single submitter dilated cardiomyopathy 1AA
c.2301+11C>T Single submitter dilated cardiomyopathy 1AA
c.2301+14C>T Single submitter dilated cardiomyopathy 1AA
c.2301+17A>G Single submitter familial hypertrophic cardiomyopathy
c.2301+66G>T Single submitter
c.2301+7C>G Single submitter dilated cardiomyopathy 1AA
c.2302-10T>C Single submitter dilated cardiomyopathy 1AA
c.2302-18del Single submitter dilated cardiomyopathy 1AA
c.2302-19C>T Single submitter familial hypertrophic cardiomyopathy
c.2302-7C>T Single submitter dilated cardiomyopathy 1AA
c.2302-9T>C Single submitter dilated cardiomyopathy 1AA
c.2367+109G>A Single submitter
c.2367+11del Single submitter familial hypertrophic cardiomyopathy
c.2367+12G>A Single submitter familial hypertrophic cardiomyopathy
c.2367+14T>C Single submitter familial hypertrophic cardiomyopathy
c.2367+16A>G Single submitter dilated cardiomyopathy 1AA
c.2367+17A>G Single submitter familial hypertrophic cardiomyopathy
c.2367+19T>C Single submitter dilated cardiomyopathy 1AA
c.2368-11C>T Single submitter dilated cardiomyopathy 1AA
c.2368-12A>G Single submitter familial hypertrophic cardiomyopathy
c.2368-169C>A Single submitter
c.2368-20T>C Single submitter familial hypertrophic cardiomyopathy
c.2368-310C>T Single submitter
c.2368-5C>A Single submitter dilated cardiomyopathy 1AA
c.2368-8T>C Single submitter dilated cardiomyopathy 1AA
c.241+12A>G Single submitter dilated cardiomyopathy 1AA
c.241+16C>T Single submitter familial hypertrophic cardiomyopathy
c.241+18C>T Single submitter familial hypertrophic cardiomyopathy
c.241+8T>C Single submitter dilated cardiomyopathy 1AA
c.242-14T>G Single submitter dilated cardiomyopathy 1AA
c.242-15C>T Single submitter familial hypertrophic cardiomyopathy
c.242-20A>T Single submitter familial hypertrophic cardiomyopathy
c.242-9A>G Single submitter familial hypertrophic cardiomyopathy
c.2526+12C>T Single submitter familial hypertrophic cardiomyopathy
c.2526+7A>G Single submitter familial hypertrophic cardiomyopathy
c.2526+9T>C Single submitter familial hypertrophic cardiomyopathy
c.2527-17T>A Single submitter dilated cardiomyopathy 1AA
c.2527-17T>C Single submitter dilated cardiomyopathy 1AA
c.2527-19C>T Single submitter dilated cardiomyopathy 1AA
c.2527-4C>T Single submitter dilated cardiomyopathy 1AA
c.2527-6T>C Single submitter dilated cardiomyopathy 1AA
c.361+10G>A Single submitter familial hypertrophic cardiomyopathy
c.361+18T>C Single submitter dilated cardiomyopathy 1AA
c.361+19G>A Single submitter familial hypertrophic cardiomyopathy
c.362-13T>G Single submitter familial hypertrophic cardiomyopathy
c.362-16_362-13dup Single submitter familial hypertrophic cardiomyopathy
c.362-19G>A Single submitter dilated cardiomyopathy 1AA
c.362-5T>C Single submitter familial hypertrophic cardiomyopathy
c.448+10A>G Single submitter dilated cardiomyopathy 1AA
c.448+11T>C Single submitter dilated cardiomyopathy 1AA

Uncertain significance 823

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

c.1107+3G>A Multiple submitters familial hypertrophic cardiomyopathy
c.1108-10A>G Multiple submitters dilated cardiomyopathy 1AA
c.1108-3C>T Multiple submitters Cardiovascular phenotype
c.1255+1G>C Multiple submitters dilated cardiomyopathy 1AA
c.126+2T>G Multiple submitters Cardiovascular phenotype
c.127-3C>A Multiple submitters cardiomyopathy
c.2154+4C>T Multiple submitters Cardiovascular phenotype
c.2154+5G>A Multiple submitters myopathy, congenital, with structured cores and z-line abnormalities
c.242-2_242-1del Multiple submitters Cardiovascular phenotype
c.242-3C>T Multiple submitters dilated cardiomyopathy 1AA
c.2527-3C>T Multiple submitters familial hypertrophic cardiomyopathy
c.536+6C>G Multiple submitters dilated cardiomyopathy 1AA
c.697+1G>A Multiple submitters Cardiovascular phenotype
c.698-1179G>A Multiple submitters myopathy, distal, 6, adult-onset, autosomal dominant
c.783+4C>T Multiple submitters Cardiovascular phenotype
c.784-2A>G Multiple submitters dilated cardiomyopathy 1AA
c.*1001T>A Multiple submitters dilated cardiomyopathy 1AA
c.*106A>G Multiple submitters dilated cardiomyopathy 1AA
c.*10T>C Multiple submitters Cardiovascular phenotype
c.*128G>A Multiple submitters dilated cardiomyopathy 1AA
c.*1645C>G Multiple submitters dilated cardiomyopathy 1AA
c.*286T>C Multiple submitters dilated cardiomyopathy 1AA
c.*551G>A Multiple submitters dilated cardiomyopathy 1AA
c.*979C>A Multiple submitters dilated cardiomyopathy 1AA
p.Ala142Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala153Val Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Ala166Pro Multiple submitters Cardiovascular phenotype ⚠
p.Ala215Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala219Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala255Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala257Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala259Thr Multiple submitters cardiomyopathy ⚠
p.Ala259Val Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Ala265Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala453Gly Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Ala46Ser Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Ala525Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala568Val Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Ala670Thr Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Ala705Thr Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Ala747Val Multiple submitters myopathy, distal, 6, adult-onset, autosomal dominant ⚠
p.Ala823Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala833Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala833Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala847Pro Multiple submitters Cardiovascular phenotype
p.Ala859Thr Multiple submitters intrinsic cardiomyopathy ⚠
p.Ala878Thr Multiple submitters Cardiovascular phenotype ⚠
p.Arg140Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg194Gln Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Arg298Cys Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Arg324Pro Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Arg324Trp Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Arg327Cys Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Arg327Pro Multiple submitters ⚠
p.Arg357Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg357His Multiple submitters myopathy, congenital, with structured cores and z-line abnormalities ⚠
p.Arg394Gln Multiple submitters cardiomyopathy ⚠
p.Arg398Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg41Lys Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Arg457His Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Arg506Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg572Gln Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Arg592Ile Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Arg631Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg637Ser Multiple submitters Cardiovascular phenotype ⚠
p.Arg639Lys Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Arg640Cys Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Arg640His Multiple submitters Cardiovascular phenotype ⚠
p.Arg67Lys Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Arg721Cys Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Arg721Pro Multiple submitters Cardiovascular phenotype ⚠
p.Arg745Ter Multiple submitters dilated cardiomyopathy 1AA
p.Arg796Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg796His Multiple submitters Cardiovascular phenotype ⚠
p.Arg796Leu Multiple submitters myopathy, congenital, with structured cores and z-line abnormalities ⚠
p.Arg83Ser Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Arg852Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg89Trp Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Asn11His Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Asn11Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn236Asp Multiple submitters Cardiovascular phenotype ⚠
p.Asn276Asp Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Asn279Thr Multiple submitters Cardiovascular phenotype ⚠
p.Asn580Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn597His Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Asn635Asp Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Asn687Thr Multiple submitters Cardiovascular phenotype
p.Asn690Lys Multiple submitters Cardiovascular phenotype ⚠
p.Asn691del Multiple submitters Cardiovascular phenotype
p.Asn736Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn763Lys Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Asn804Ser Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Asp206Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp206Gly Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Asp233Asn Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Asp241Asn Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Asp29Asn Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Asp450Tyr Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Asp481Gly Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Asp65Asn Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Asp693Gly Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Asp698Glu Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Asp857His Multiple submitters Cardiovascular phenotype ⚠
p.Cys487Phe Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Cys48Ser Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Cys781Phe Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Gln22Leu Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Gln317Pro Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Gln422Ter Multiple submitters dilated cardiomyopathy 1AA
p.Gln489Ter Multiple submitters Cardiovascular phenotype
p.Gln498His Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Gln516Leu Multiple submitters Cardiovascular phenotype ⚠
p.Gln641His Multiple submitters Cardiovascular phenotype ⚠
p.Gln666His Multiple submitters Cardiovascular phenotype ⚠
p.Gln680Arg Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Gln806Ter Multiple submitters dilated cardiomyopathy 1AA
p.Gln812His Multiple submitters Cardiovascular phenotype ⚠
p.Gln830Lys Multiple submitters Cardiovascular phenotype ⚠
p.Gln9Pro Multiple submitters Cardiovascular phenotype ⚠
p.Glu149Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu263Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu310Gly Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Glu310Lys Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Glu337Lys Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Glu386Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu414Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu414Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu448Lys Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Glu537Lys Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Glu567Lys Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Glu606Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu636Gly Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Glu636Lys Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Glu63Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu658Gln Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Glu737Ala Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Glu793Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu829Lys Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Glu829Ter Multiple submitters Cardiovascular phenotype
p.Glu82Lys Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Glu853fs Multiple submitters familial hypertrophic cardiomyopathy
p.Glu891Ter Multiple submitters familial hypertrophic cardiomyopathy
p.Gly118Asp Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Gly118Ser Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Gly56Asp Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Gly570Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly723Glu Multiple submitters ACTN2-related disorder ⚠
p.Gly7Ser Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Gly805Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly81Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gly871Val Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Gly877Cys Multiple submitters dilated cardiomyopathy 1AA ⚠
p.His193Gln Multiple submitters Cardiovascular phenotype ⚠
p.His413Asp Multiple submitters dilated cardiomyopathy 1AA ⚠
p.His413Gln Multiple submitters Cardiovascular phenotype ⚠
p.His413Leu Multiple submitters Cardiovascular phenotype ⚠
p.His444Asp Multiple submitters Cardiovascular phenotype ⚠
p.His474Gln Multiple submitters Cardiovascular phenotype ⚠
p.His775Tyr Multiple submitters myopathy, distal, 6, adult-onset, autosomal dominant ⚠
p.Ile143Val Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Ile198Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile21Thr Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Ile225Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ile225Thr Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Ile234Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ile371Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile464Met Multiple submitters Cardiovascular phenotype ⚠
p.Ile4Met Multiple submitters Cardiovascular phenotype ⚠
p.Ile514Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile544Val Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Ile575Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ile59Val Multiple submitters Cardiovascular phenotype ⚠
p.Ile685Asn Multiple submitters ⚠
p.Ile686Leu Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Ile731Val Multiple submitters Cardiovascular phenotype ⚠
p.Ile863Leu Multiple submitters myopathy, distal, 6, adult-onset, autosomal dominant ⚠
p.Leu186Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu189Phe Multiple submitters Cardiovascular phenotype ⚠
p.Leu197Phe Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Leu229Trp Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Leu352Gln Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Leu425Pro Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Leu471Pro Multiple submitters Cardiovascular phenotype ⚠
p.Leu511Pro Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Leu74Met Multiple submitters Cardiovascular phenotype ⚠
p.Lys181Glu Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Lys319Glu Multiple submitters Cardiovascular phenotype ⚠
p.Lys383Asn Multiple submitters Cardiovascular phenotype ⚠
p.Lys409Arg Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Lys562Asn Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Met133Val Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Met20Leu Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Met20Thr Multiple submitters Cardiovascular phenotype ⚠
p.Met20Val Multiple submitters Cardiovascular phenotype ⚠
p.Met216Leu Multiple submitters Cardiovascular phenotype ⚠
p.Met216Val Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Met313Val Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Met532Leu Multiple submitters Cardiovascular phenotype ⚠
p.Met576Val Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Met604Thr Multiple submitters Cardiovascular phenotype ⚠
p.Met866Leu Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Met92Ile Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Phe256Ser Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Phe406Val Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Pro240fs Multiple submitters familial hypertrophic cardiomyopathy
p.Pro302Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro527Ser Multiple submitters ⚠
p.Pro651Leu Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Pro843Gln Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Pro85Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro872Ala Multiple submitters Cardiovascular phenotype ⚠
p.Pro872Glu Multiple submitters Cardiovascular phenotype
p.Ser147Pro Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Ser449Arg Multiple submitters Cardiovascular phenotype ⚠
p.Ser553Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ser594Gly Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Ser600Asn Multiple submitters Cardiovascular phenotype ⚠
p.Ser761Thr Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Ser813Thr Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Ser870Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ser885Pro Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Ser886Pro Multiple submitters Cardiovascular phenotype ⚠
p.Thr45Ala Multiple submitters Cardiovascular phenotype ⚠
p.Thr513Asn Multiple submitters Cardiovascular phenotype ⚠
p.Thr713Met Multiple submitters Cardiovascular phenotype ⚠
p.Thr734Ile Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Thr799Ala Multiple submitters Cardiovascular phenotype ⚠
p.Trp36Ter Multiple submitters dilated cardiomyopathy 1AA
p.Trp388Gly Multiple submitters Cardiovascular phenotype ⚠
p.Trp611Ter Multiple submitters Cardiovascular phenotype
p.Tyr12Cys Multiple submitters Cardiovascular phenotype ⚠
p.Tyr12His Multiple submitters Cardiovascular phenotype ⚠
p.Tyr286Cys Multiple submitters Cardiovascular phenotype ⚠
p.Tyr385Phe Multiple submitters Cardiovascular phenotype ⚠
p.Tyr429Ter Multiple submitters dilated cardiomyopathy 1AA
p.Tyr473Cys Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Tyr688Cys Multiple submitters Cardiovascular phenotype ⚠
p.Tyr688Ser Multiple submitters Cardiovascular phenotype ⚠
p.Tyr869Asp Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Tyr881Phe Multiple submitters familial hypertrophic cardiomyopathy ⚠
p.Val115Met Multiple submitters Cardiovascular phenotype ⚠
p.Val235Met Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Val368Leu Multiple submitters dilated cardiomyopathy 1AA ⚠
p.Val614Ala Multiple submitters Cardiovascular phenotype ⚠
p.Val707Ala Multiple submitters familial hypertrophic cardiomyopathy ⚠
c.1107+5G>A Single submitter familial hypertrophic cardiomyopathy
c.1107+5G>T Single submitter familial hypertrophic cardiomyopathy
c.1108-2A>T Single submitter myopathy, distal, 6, adult-onset, autosomal dominant
c.1108-9C>G Single submitter familial hypertrophic cardiomyopathy
c.1249_1255+1del Single submitter dilated cardiomyopathy 1AA
c.1255+3A>G Single submitter familial hypertrophic cardiomyopathy
c.1255+4A>C Single submitter dilated cardiomyopathy 1AA
c.1255+5G>A Single submitter Cardiovascular phenotype
c.1255+5G>T Single submitter familial hypertrophic cardiomyopathy
c.1255+6T>G Single submitter familial hypertrophic cardiomyopathy
c.1256-2A>C Single submitter cardiomyopathy
c.1256-3C>T Single submitter dilated cardiomyopathy 1AA
c.1256-9C>G Single submitter
c.126+13C>T Single submitter
c.126+15G>C Single submitter dilated cardiomyopathy 1AA
c.126+20_126+43dup Single submitter familial hypertrophic cardiomyopathy
c.126+3C>T Single submitter dilated cardiomyopathy 1AA
c.1406+11A>G Single submitter familial hypertrophic cardiomyopathy
c.1407-541_1446del Single submitter familial hypertrophic cardiomyopathy
c.1516-1G>T Single submitter familial hypertrophic cardiomyopathy
c.1516-3T>C Single submitter dilated cardiomyopathy 1AA
c.1656+1G>A Single submitter dilated cardiomyopathy 1AA
c.1656+3A>G Single submitter familial hypertrophic cardiomyopathy
c.1656+4A>C Single submitter dilated cardiomyopathy 1AA
c.1657-2del Single submitter familial hypertrophic cardiomyopathy
c.1657-8G>A Single submitter dilated cardiomyopathy 1AA
c.1839+4G>A Single submitter familial hypertrophic cardiomyopathy
c.1839+4G>C Single submitter dilated cardiomyopathy 1AA
c.1839+5G>C Single submitter
c.1840-3C>A Single submitter familial hypertrophic cardiomyopathy
c.1840-3C>T Single submitter familial hypertrophic cardiomyopathy
c.1974+4A>G Single submitter dilated cardiomyopathy 1AA
c.1974+5G>A Single submitter Cardiovascular phenotype
c.1975-14C>G Single submitter familial hypertrophic cardiomyopathy
c.1975-2A>G Single submitter dilated cardiomyopathy 1AA
c.2154+19C>T Single submitter dilated cardiomyopathy 1AA
c.2155-3T>C Single submitter dilated cardiomyopathy 1AA
c.2155-4A>G Single submitter dilated cardiomyopathy 1AA
c.2301+2T>C Single submitter familial hypertrophic cardiomyopathy
c.2301+5C>T Single submitter dilated cardiomyopathy 1AA
c.2302-3C>A Single submitter
c.2302-3C>T Single submitter dilated cardiomyopathy 1AA
c.2368-1G>C Single submitter Cardiovascular phenotype
c.2368-3C>A Single submitter dilated cardiomyopathy 1AA
c.241+2T>C Single submitter familial hypertrophic cardiomyopathy
c.242-3C>A Single submitter familial hypertrophic cardiomyopathy
c.242-4A>G Single submitter Cardiovascular phenotype
c.2526+2T>A Single submitter myopathy
c.2526+2T>C Single submitter dilated cardiomyopathy 1AA
c.2526+3C>T Single submitter dilated cardiomyopathy 1AA
c.361+16G>A Single submitter dilated cardiomyopathy 1AA
c.361+5G>C Single submitter Cardiovascular phenotype
c.361+8GT[3] Single submitter dilated cardiomyopathy 1AA
c.448+6A>G Single submitter familial hypertrophic cardiomyopathy
c.449-3_449-2insTTCT Single submitter dilated cardiomyopathy 1AA