ACTC1 — 857 ClinVar variants

All ClinVar germline ACTC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 329 flagged for review →

5 Pathogenic · 2 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 44 Conflicting · 34 Benign · 35 Benign/Likely benign · 291 Likely benign · 431 Uncertain significance

Full ACTC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 329

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 1

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

ACTC1 p.Ala297Ser Pathogenic Single submitter
atrial septal defect 5

Predictors agree, ClinVar conflicts 20

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

ACTC1 p.Ala222Thr Conflicting Single submitter
ACTC1-related disorder
ACTC1 p.Ala28Thr Conflicting Single submitter
atrial septal defect 5
ACTC1 p.Ala323Val Conflicting Single submitter
Cardiovascular phenotype
ACTC1 p.Ala333Val Conflicting Single submitter
atrial septal defect 5
ACTC1 p.Arg212His Conflicting Single submitter
Cardiovascular phenotype
ACTC1 p.Arg314Cys Conflicting Single submitter
Cardiovascular phenotype
ACTC1 p.Arg314His Conflicting Single submitter
atrial septal defect 5
ACTC1 p.Asn94Ser Conflicting Single submitter
Cardiovascular phenotype
ACTC1 p.Asp26Asn Conflicting Single submitter
atrial septal defect 5
ACTC1 p.Gln265Glu Conflicting Single submitter
Cardiovascular phenotype
ACTC1 p.Glu363Gly Conflicting Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Gly50Ser Conflicting Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Gly57Asp Conflicting Single submitter
dilated cardiomyopathy 1R
ACTC1 p.His90Tyr Conflicting Single submitter
Cardiovascular phenotype
ACTC1 p.Ile329Thr Conflicting Single submitter
atrial septal defect 5
ACTC1 p.Leu10Met Conflicting Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Met271Thr Conflicting Single submitter
cardiomyopathy
ACTC1 p.Phe23Leu Conflicting Single submitter
familial hypertrophic cardiomyopathy
ACTC1 p.Pro104Ser Conflicting Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Tyr242Cys Conflicting Single submitter
dilated cardiomyopathy 1R

Predicted LoF vs a conflicting call 1

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.

ACTC1 p.Thr105fs Conflicting Single submitter
atrial septal defect 5

Predictors lean, ClinVar uncertain 238

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 238

ACTC1 p.Gly345Val Uncertain significance Expert panel
hypertrophic cardiomyopathy
ACTC1 p.Pro266Leu Uncertain significance Expert panel
hypertrophic cardiomyopathy
ACTC1 p.Ala133Thr Uncertain significance Multiple submitters
dilated cardiomyopathy 1R
ACTC1 p.Ala133Val Uncertain significance Multiple submitters
cardiomyopathy
ACTC1 p.Ala137Thr Uncertain significance Multiple submitters
atrial septal defect 5
ACTC1 p.Ala21Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Ala232Val Uncertain significance Multiple submitters
atrial septal defect 5
ACTC1 p.Ala28Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 11
ACTC1 p.Ala323Pro Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 11
ACTC1 p.Ala323Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Ala60Thr Uncertain significance Multiple submitters
cardiomyopathy
ACTC1 p.Arg185Gln Uncertain significance Multiple submitters
atrial septal defect 5
ACTC1 p.Arg208Cys Uncertain significance Multiple submitters
atrial septal defect 5
ACTC1 p.Arg208His Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Arg208Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 11
ACTC1 p.Arg374Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 11
ACTC1 p.Arg64Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Asn298Asp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 11
ACTC1 p.Asp159Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Asp159Glu Uncertain significance Multiple submitters
atrial septal defect 5
ACTC1 p.Asp181Asn Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 11
ACTC1 p.Asp181His Uncertain significance Multiple submitters
atrial septal defect 5
ACTC1 p.Asp224Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 11
ACTC1 p.Asp365Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Asp4Asn Uncertain significance Multiple submitters
atrial septal defect 5
ACTC1 p.Asp53Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Asp82Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
ACTC1 p.Cys2Tyr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 11
ACTC1 p.Gln356Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 11
ACTC1 p.Glu318Lys Uncertain significance Multiple submitters
atrial septal defect 5
ACTC1 p.Gly152Ser Uncertain significance Multiple submitters
atrial septal defect 5
ACTC1 p.Gly247Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Gly253Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1R
ACTC1 p.Gly303Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 11
ACTC1 p.Gly368Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.His103Gln Uncertain significance Multiple submitters
atrial septal defect 5
ACTC1 p.His175Pro Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 11
ACTC1 p.His89Arg Uncertain significance Multiple submitters
dilated cardiomyopathy 1R
ACTC1 p.Ile124Met Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 11
ACTC1 p.Ile167Thr Uncertain significance Multiple submitters
atrial septal defect 5
ACTC1 p.Ile252Met Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 11
ACTC1 p.Ile252Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Ile331Phe Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 11
ACTC1 p.Ile332Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 11
ACTC1 p.Ile36Met Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 11
ACTC1 p.Ile371Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Leu195Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Leu238Pro Uncertain significance Multiple submitters
dilated cardiomyopathy 1R
ACTC1 p.Leu244Met Uncertain significance Multiple submitters
atrial septal defect 5
ACTC1 p.Leu96Phe Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 11
ACTC1 p.Lys193Asn Uncertain significance Multiple submitters
atrial septal defect 5
ACTC1 p.Met125Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Met178Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Met229Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Met285Lys Uncertain significance Multiple submitters
dilated cardiomyopathy 1R
ACTC1 p.Met357Thr Uncertain significance Multiple submitters
atrial septal defect 5
ACTC1 p.Phe257Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Phe268Leu Uncertain significance Multiple submitters
cardiomyopathy
ACTC1 p.Pro104Leu Uncertain significance Multiple submitters
dilated cardiomyopathy 1R
ACTC1 p.Pro166Ser Uncertain significance Multiple submitters
atrial septal defect 5
ACTC1 p.Pro174His Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Pro174Leu Uncertain significance Multiple submitters
dilated cardiomyopathy 1R
ACTC1 p.Pro324Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 11
ACTC1 p.Pro34Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Pro34Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Ser201Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Ser201Pro Uncertain significance Multiple submitters
atrial septal defect 5
ACTC1 p.Ser236Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Ser54Phe Uncertain significance Multiple submitters
atrial septal defect 5
ACTC1 p.Thr151Ile Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 11
ACTC1 p.Thr162Ile Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 11
ACTC1 p.Thr188Ile Uncertain significance Multiple submitters
atrial septal defect 5
ACTC1 p.Thr251Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Thr7Ser Uncertain significance Multiple submitters
cardiomyopathy
ACTC1 p.Thr8Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Tyr220His Uncertain significance Multiple submitters
ACTC1 p.Tyr296His Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Tyr364Asn Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 11
ACTC1 p.Tyr93Cys Uncertain significance Multiple submitters
cardiomyopathy
ACTC1 p.Ala110Thr Uncertain significance Single submitter
ACTC1 p.Ala110Val Uncertain significance Single submitter
atrial septal defect 5
ACTC1 p.Ala133Pro Uncertain significance Single submitter
dilated cardiomyopathy 1R
ACTC1 p.Ala137Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Ala172Val Uncertain significance Single submitter
Cardiovascular phenotype
ACTC1 p.Ala176Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Ala21Val Uncertain significance Single submitter
atrial septal defect 5
ACTC1 p.Ala232Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Ala232Thr Uncertain significance Single submitter
ACTC1 p.Ala233Pro Uncertain significance Single submitter
dilated cardiomyopathy 1R
ACTC1 p.Ala297Pro Uncertain significance Single submitter
ACTC1 p.Ala31Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Ala60Ser Uncertain significance Single submitter
Cardiovascular phenotype
ACTC1 p.Ala60Val Uncertain significance Single submitter
ACTC1 p.Ala99Val Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Ala9Thr Uncertain significance Single submitter
ACTC1 p.Arg198Cys Uncertain significance Single submitter
hypertrophic cardiomyopathy
ACTC1 p.Arg212Cys Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Arg256His Uncertain significance Single submitter
dilated cardiomyopathy 1R
ACTC1 p.Arg256Pro Uncertain significance Single submitter
atrial septal defect 5
ACTC1 p.Arg292Pro Uncertain significance Single submitter
Cardiovascular phenotype
ACTC1 p.Arg97Cys Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Arg97His Uncertain significance Single submitter
dilated cardiomyopathy 1R
ACTC1 p.Asn113His Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Asn113Tyr Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Asn14Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Asn299Ser Uncertain significance Single submitter
cardiomyopathy
ACTC1 p.Asn299Tyr Uncertain significance Single submitter
atrial septal defect 5
ACTC1 p.Asp186Glu Uncertain significance Single submitter
dilated cardiomyopathy 1R
ACTC1 p.Asp189Ala Uncertain significance Single submitter
dilated cardiomyopathy 1R
ACTC1 p.Asp189His Uncertain significance Single submitter
dilated cardiomyopathy 1R
ACTC1 p.Asp213Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Asp224Asn Uncertain significance Single submitter
Cardiovascular phenotype
ACTC1 p.Asp26Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy
ACTC1 p.Asp27Glu Uncertain significance Single submitter
ACTC1 p.Asp294Glu Uncertain significance Single submitter
dilated cardiomyopathy 1R
ACTC1 p.Asp365Tyr Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Asp3His Uncertain significance Single submitter
ACTC1 p.Asp4Glu Uncertain significance Single submitter
atrial septal defect 5
ACTC1 p.Asp53Asn Uncertain significance Single submitter
dilated cardiomyopathy 1R
ACTC1 p.Asp53Tyr Uncertain significance Single submitter
ACTC1 p.Asp82Asn Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Cys12Tyr Uncertain significance Single submitter
hypertrophic cardiomyopathy
ACTC1 p.Cys219Tyr Uncertain significance Single submitter
ACTC1 p.Cys259Ser Uncertain significance Single submitter
atrial septal defect 5
ACTC1 p.Gln265His Uncertain significance Single submitter
ACTC1 p.Gln355Arg Uncertain significance Single submitter
dilated cardiomyopathy 1R
ACTC1 p.Glu101Gly Uncertain significance Single submitter
Cardiovascular phenotype
ACTC1 p.Glu101Val Uncertain significance Single submitter
dilated cardiomyopathy 1R
ACTC1 p.Glu119Gln Uncertain significance Single submitter
Paediatric disorders
ACTC1 p.Glu197Gly Uncertain significance Single submitter
ACTC1 p.Glu243Gln Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Glu318Asp Uncertain significance Single submitter
ACTC1 p.Glu74Gln Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Gly152Asp Uncertain significance Single submitter
dilated cardiomyopathy 1A
ACTC1 p.Gly152Val Uncertain significance Single submitter
dilated cardiomyopathy 1R
ACTC1 p.Gly158Glu Uncertain significance Single submitter
atrial septal defect 5
ACTC1 p.Gly15Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Gly170Asp Uncertain significance Single submitter
dilated cardiomyopathy 1R
ACTC1 p.Gly253Ala Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Gly304Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Gly304Ser Uncertain significance Single submitter
Cardiovascular phenotype
ACTC1 p.Gly345Ala Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Gly50Ala Uncertain significance Single submitter
Cardiovascular phenotype
ACTC1 p.Gly57Ser Uncertain significance Single submitter
atrial septal defect 5
ACTC1 p.Gly65Val Uncertain significance Single submitter
dilated cardiomyopathy 1R
ACTC1 p.His175Arg Uncertain significance Single submitter
Cardiovascular phenotype
ACTC1 p.His42Tyr Uncertain significance Single submitter
atrial septal defect 5
ACTC1 p.Ile153Thr Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Ile167Met Uncertain significance Single submitter
atrial septal defect 5
ACTC1 p.Ile167Ser Uncertain significance Single submitter
dilated cardiomyopathy 1R

Predictors split 69

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

ACTC1 p.Val56Ile Uncertain significance Expert panel
dilated cardiomyopathy
ACTC1 p.Ala222Ser Uncertain significance Multiple submitters
ACTC1 p.Ala321Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Ala367Thr Uncertain significance Multiple submitters
cardiomyopathy
ACTC1 p.Asn130Ser Uncertain significance Multiple submitters
cardiomyopathy
ACTC1 p.Asp4His Uncertain significance Multiple submitters
atrial septal defect 5
ACTC1 p.Gln362Pro Uncertain significance Multiple submitters
dilated cardiomyopathy 1R
ACTC1 p.Ile177Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Ile194Met Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Ile332Val Uncertain significance Multiple submitters
cardiomyopathy
ACTC1 p.Ile73Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Ile77Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Lys63Arg Uncertain significance Multiple submitters
atrial septal defect 5
ACTC1 p.Ser283Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 11
ACTC1 p.Ser325Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
ACTC1 p.Ser370Cys Uncertain significance Multiple submitters
atrial septal defect 5
ACTC1 p.Thr128Asn Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 11
ACTC1 p.Thr205Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
ACTC1 p.Ala230Val Uncertain significance Single submitter
atrial septal defect 5
ACTC1 p.Ala232Ser Uncertain significance Single submitter
atrial septal defect 5
ACTC1 p.Ala297Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Ala312Ser Uncertain significance Single submitter
Cardiovascular phenotype
ACTC1 p.Ala323Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Ala333Ser Uncertain significance Single submitter
cardiomyopathy
ACTC1 p.Ala367Gly Uncertain significance Single submitter
dilated cardiomyopathy 1R
ACTC1 p.Ala367Val Uncertain significance Single submitter
hypertrophic cardiomyopathy
ACTC1 p.Asn130Asp Uncertain significance Single submitter
atrial septal defect 5
ACTC1 p.Asn227Asp Uncertain significance Single submitter
hypertrophic cardiomyopathy
ACTC1 p.Glu6Asp Uncertain significance Single submitter
Cardiovascular phenotype
ACTC1 p.Ile250Val Uncertain significance Single submitter
dilated cardiomyopathy 1R
ACTC1 p.Ile269Thr Conflicting Single submitter
dilated cardiomyopathy
ACTC1 p.Ile36Leu Uncertain significance Single submitter
atrial septal defect 5
ACTC1 p.Ile371Val Uncertain significance Single submitter
Cardiovascular phenotype
ACTC1 p.Ile87Val Uncertain significance Single submitter
ACTC1 p.Leu182Met Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Leu263Val Uncertain significance Single submitter
atrial septal defect 5
ACTC1 p.Lys115Arg Likely pathogenic Single submitter
ACTC1 p.Lys193Arg Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Lys217Arg Uncertain significance Single submitter
dilated cardiomyopathy 1R
ACTC1 p.Lys317Arg Uncertain significance Single submitter
atrial septal defect 5
ACTC1 p.Lys375Arg Uncertain significance Single submitter
ACTC1 p.Met134Thr Uncertain significance Single submitter
ACTC1 p.Met134Val Uncertain significance Single submitter
dilated cardiomyopathy 1R
ACTC1 p.Met192Val Uncertain significance Single submitter
atrial septal defect 5
ACTC1 p.Met307Leu Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Pro260Ala Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Ser273Thr Uncertain significance Single submitter
ACTC1 p.Ser35Ala Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Ser360Asn Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Ser360Gly Uncertain significance Single submitter
cardiomyopathy
ACTC1 p.Ser62Gly Uncertain significance Single submitter
atrial septal defect 5
ACTC1 p.Thr105Ile Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Thr128Ala Conflicting Single submitter
atrial septal defect 5
ACTC1 p.Thr231Ile Uncertain significance Single submitter
atrial septal defect 5
ACTC1 p.Thr262Ser Uncertain significance Single submitter
atrial septal defect 5
ACTC1 p.Thr279Ala Uncertain significance Single submitter
hypertrophic cardiomyopathy
ACTC1 p.Thr280Ser Uncertain significance Single submitter
cardiomyopathy
ACTC1 p.Thr320Ile Uncertain significance Single submitter
atrial septal defect 5
ACTC1 p.Thr326Ser Uncertain significance Single submitter
dilated cardiomyopathy 1R
ACTC1 p.Thr7Asn Uncertain significance Single submitter
hypertrophic cardiomyopathy
ACTC1 p.Tyr220Phe Uncertain significance Single submitter
dilated cardiomyopathy 1R
ACTC1 p.Val161Ile Uncertain significance Single submitter
dilated cardiomyopathy 1R
ACTC1 p.Val165Ile Uncertain significance Single submitter
hypertrophic cardiomyopathy 11
ACTC1 p.Val203Ile Uncertain significance Single submitter
atrial septal defect 5
ACTC1 p.Val300Ile Uncertain significance Single submitter
atrial septal defect 5
ACTC1 p.Val32Ile Uncertain significance Single submitter
atrial septal defect 5
ACTC1 p.Ala274Val Uncertain significance No assertion criteria
ACTC1 p.Met125Val Pathogenic No assertion criteria
atrial septal defect 5
ACTC1 p.Met271Val Pathogenic No assertion criteria

All ACTC1 variants

Pathogenic 5

p.Glu101Lys Expert panel hypertrophic cardiomyopathy
p.Ala297Ser Single submitter atrial septal defect 5 ⚠
p.Ala333Pro Single submitter atrial septal defect 5
p.Met125Val No assertion criteria atrial septal defect 5 ⚠
p.Met271Val No assertion criteria ⚠

Pathogenic/Likely pathogenic 2

p.Gly247Asp Multiple submitters hypertrophic cardiomyopathy 11
p.Ile289Thr Multiple submitters atrial septal defect 5

Likely pathogenic 15

p.Ile284Phe Expert panel hypertrophic cardiomyopathy
p.Arg185Trp Multiple submitters Inborn genetic diseases
p.Thr128Ile Multiple submitters Cardiovascular phenotype
p.Arg212Pro Single submitter
p.Arg256Cys Single submitter hypertrophic cardiomyopathy 11
p.Arg374His Single submitter arthrogryposis
p.Asn227fs Single submitter atrial septal defect 5
p.Glu239Gln Single submitter
p.Glu239Val Single submitter dilated cardiomyopathy 1R
p.His277Arg Single submitter
p.Ile194Asn Single submitter hypertrophic cardiomyopathy 11
p.Lys115Arg Single submitter ⚠
p.Lys215Glu Single submitter atrial septal defect 5
p.Lys317Asn Single submitter hypertrophic cardiomyopathy 11
p.Lys52Thr Single submitter dilated cardiomyopathy 1R

Conflicting classifications of pathogenicity 44

c.130-11dup Single submitter hypertrophic cardiomyopathy 11
c.130-9T>C Single submitter cardiomyopathy
c.616+6T>C Single submitter cardiomyopathy
c.809-12A>G Single submitter hypertrophic cardiomyopathy 11
c.809-14T>A Single submitter dilated cardiomyopathy 1R
c.809-58TG[21] Single submitter Cardiovascular phenotype
c.990+6G>A Single submitter hypertrophic cardiomyopathy 11
c.-228C>A Single submitter dilated cardiomyopathy 1R
c.-23+15G>T Single submitter dilated cardiomyopathy 1R
c.*1219C>T Single submitter dilated cardiomyopathy 1R
c.*1262G>C Single submitter hypertrophic cardiomyopathy 11
c.*1732G>C Single submitter hypertrophic cardiomyopathy 11
c.*214G>A Single submitter hypertrophic cardiomyopathy 11
c.*393G>T Single submitter dilated cardiomyopathy 1R
c.*5C>G Single submitter cardiomyopathy
c.*737C>T Single submitter dilated cardiomyopathy 1R
p.Ala137= Single submitter Cardiovascular phenotype
p.Ala222Thr Single submitter ACTC1-related disorder ⚠
p.Ala28Thr Single submitter atrial septal defect 5 ⚠
p.Ala323Val Single submitter Cardiovascular phenotype ⚠
p.Ala333Val Single submitter atrial septal defect 5 ⚠
p.Arg179= Single submitter dilated cardiomyopathy 1R
p.Arg212His Single submitter Cardiovascular phenotype ⚠
p.Arg314Cys Single submitter Cardiovascular phenotype ⚠
p.Arg314His Single submitter atrial septal defect 5 ⚠
p.Asn94Ser Single submitter Cardiovascular phenotype ⚠
p.Asp26Asn Single submitter atrial septal defect 5 ⚠
p.Gln265Glu Single submitter Cardiovascular phenotype ⚠
p.Glu363Gly Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Gly50Ser Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Gly57Asp Single submitter dilated cardiomyopathy 1R ⚠
p.His90= Single submitter hypertrophic cardiomyopathy 11
p.His90Tyr Single submitter Cardiovascular phenotype ⚠
p.Ile269Thr Single submitter dilated cardiomyopathy ⚠
p.Ile329Thr Single submitter atrial septal defect 5 ⚠
p.Leu10Met Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Leu144= Single submitter hypertrophic cardiomyopathy
p.Met271Thr Single submitter cardiomyopathy ⚠
p.Phe23Leu Single submitter familial hypertrophic cardiomyopathy ⚠
p.Phe92del Single submitter atrial septal defect 5
p.Pro104Ser Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Thr105fs Single submitter atrial septal defect 5 ⚠
p.Thr128Ala Single submitter atrial septal defect 5 ⚠
p.Tyr242Cys Single submitter dilated cardiomyopathy 1R ⚠

Benign 34

c.129+118G>A Multiple submitters
c.129+19_129+20insT Multiple submitters atrial septal defect 5
c.130-127G>C Multiple submitters
c.455-243A>T Multiple submitters
c.455-48G>C Multiple submitters
c.808+169G>A Multiple submitters
c.808+185A>G Multiple submitters
c.808+76G>C Multiple submitters
c.809-67G>A Multiple submitters
c.-57T>C Multiple submitters dilated cardiomyopathy 1R
c.*1039G>A Multiple submitters dilated cardiomyopathy 1R
c.*1445C>G Multiple submitters dilated cardiomyopathy 1R
c.*1682A>G Multiple submitters dilated cardiomyopathy 1R
c.*2090A>G Multiple submitters dilated cardiomyopathy 1R
c.*388G>A Multiple submitters dilated cardiomyopathy 1R
c.*472T>C Multiple submitters dilated cardiomyopathy 1R
c.129+17del Single submitter cardiomyopathy
c.129+17insC Single submitter cardiomyopathy
c.129+23del Single submitter
c.129+319T>G Single submitter
c.129+8T>C Single submitter
c.454+245G>A Single submitter
c.809-304G>A Single submitter
c.809-58TG[31] Single submitter
c.990+236C>T Single submitter
c.-22-212A>T Single submitter
c.-22-312G>T Single submitter
c.-23+138_-23+139dup Single submitter
c.-23+138dup Single submitter
c.-23+154del Single submitter
c.-38A>C Single submitter
c.-55CCG[3] Single submitter
c.*116G>A Single submitter
p.Gln356= Single submitter

Benign/Likely benign 35

c.129+18dup Multiple submitters
c.129+32C>A Multiple submitters
c.129+6C>G Multiple submitters atrial septal defect 5
c.454+9G>A Multiple submitters hypertrophic cardiomyopathy 11
c.616+5GT[4] Multiple submitters hypertrophic cardiomyopathy 11
c.617-7T>C Multiple submitters atrial septal defect 5
c.809-58TG[14] Multiple submitters Cardiovascular phenotype
c.809-58TG[15] Multiple submitters dilated cardiomyopathy 1R
c.809-58TG[16] Multiple submitters atrial septal defect 5
c.809-58TG[17] Multiple submitters dilated cardiomyopathy 1R
c.809-58TG[19] Multiple submitters hypertrophic cardiomyopathy 11
c.809-58TG[20] Multiple submitters dilated cardiomyopathy 1R
c.809-58TG[22] Multiple submitters dilated cardiomyopathy 1R
c.809-58TG[24] Multiple submitters atrial septal defect 5
c.809-58TG[25] Multiple submitters atrial septal defect 5
c.809-58TG[26] Multiple submitters atrial septal defect 5
c.-22-15C>G Multiple submitters
c.-50G>A Multiple submitters hypertrophic cardiomyopathy 11
c.*137A>T Multiple submitters dilated cardiomyopathy 1R
c.*1674C>T Multiple submitters dilated cardiomyopathy 1R
c.*22C>T Multiple submitters hypertrophic cardiomyopathy 11
c.*269C>T Multiple submitters dilated cardiomyopathy 1R
c.*757G>A Multiple submitters dilated cardiomyopathy 1R
p.Ala28= Multiple submitters hypertrophic cardiomyopathy
p.Arg179= Multiple submitters atrial septal defect 5
p.Asn80= Multiple submitters Cardiovascular phenotype
p.Gly310= Multiple submitters hypertrophic cardiomyopathy 11
p.Ile73= Multiple submitters Cardiovascular phenotype
p.Leu351= Multiple submitters Cardiovascular phenotype
p.Pro111= Multiple submitters Cardiovascular phenotype
p.Pro309= Multiple submitters Cardiovascular phenotype
p.Ser350= Multiple submitters hypertrophic cardiomyopathy 11
p.Tyr171= Multiple submitters Cardiovascular phenotype
p.Tyr364= Multiple submitters Cardiovascular phenotype
c.*875G>C Single submitter dilated cardiomyopathy 1R

Likely benign 291

c.129+18C>A Multiple submitters hypertrophic cardiomyopathy 11
c.130-15T>G Multiple submitters hypertrophic cardiomyopathy 11
c.455-10C>T Multiple submitters hypertrophic cardiomyopathy 11
c.455-12T>C Multiple submitters hypertrophic cardiomyopathy
c.455-14A>G Multiple submitters hypertrophic cardiomyopathy 11
c.455-4del Multiple submitters hypertrophic cardiomyopathy 11
c.455-4G>A Multiple submitters dilated cardiomyopathy 1R
c.455-7C>T Multiple submitters atrial septal defect 5
c.455-9C>T Multiple submitters dilated cardiomyopathy 1R
c.809-58TG[13] Multiple submitters Cardiovascular phenotype
c.809-58TG[18] Multiple submitters hypertrophic cardiomyopathy 11
c.809-58TG[27] Multiple submitters dilated cardiomyopathy 1R
c.809-58TG[28] Multiple submitters dilated cardiomyopathy 1R
c.809-58TG[29] Multiple submitters hypertrophic cardiomyopathy 11
c.809-8G>A Multiple submitters cardiomyopathy
c.809-8G>T Multiple submitters cardiomyopathy
c.809-9C>T Multiple submitters cardiomyopathy
c.990+64C>T Multiple submitters
c.991-10_991-8del Multiple submitters cardiomyopathy
c.991-10C>T Multiple submitters atrial septal defect 5
c.991-13T>C Multiple submitters cardiomyopathy
c.*781G>A Multiple submitters hypertrophic cardiomyopathy 11
p.Ala110= Multiple submitters hypertrophic cardiomyopathy
p.Ala133= Multiple submitters Cardiovascular phenotype
p.Ala146= Multiple submitters dilated cardiomyopathy 1R
p.Ala172= Multiple submitters Cardiovascular phenotype
p.Ala233= Multiple submitters Cardiovascular phenotype
p.Ala24= Multiple submitters hypertrophic cardiomyopathy 11
p.Ala31= Multiple submitters atrial septal defect 5
p.Ala60= Multiple submitters Cardiovascular phenotype
p.Ala9= Multiple submitters cardiomyopathy
p.Arg118= Multiple submitters Cardiovascular phenotype
p.Arg149= Multiple submitters dilated cardiomyopathy 1R
p.Arg185= Multiple submitters cardiomyopathy
p.Arg256= Multiple submitters atrial septal defect 5
p.Arg30= Multiple submitters cardiomyopathy
p.Arg314= Multiple submitters dilated cardiomyopathy 1R
p.Arg39= Multiple submitters Cardiovascular phenotype
p.Arg41= Multiple submitters cardiomyopathy
p.Asn14= Multiple submitters atrial septal defect 5
p.Asn227= Multiple submitters cardiomyopathy
p.Asn282= Multiple submitters cardiomyopathy
p.Asn298= Multiple submitters atrial septal defect 5
p.Asp213= Multiple submitters cardiomyopathy
p.Asp246= Multiple submitters cardiomyopathy
p.Asp27= Multiple submitters hypertrophic cardiomyopathy
p.Asp290= Multiple submitters Cardiovascular phenotype
p.Asp3= Multiple submitters dilated cardiomyopathy 1R
p.Asp365= Multiple submitters atrial septal defect 5
p.Asp4= Multiple submitters hypertrophic cardiomyopathy
p.Asp82= Multiple submitters Cardiovascular phenotype
p.Cys376= Multiple submitters Cardiovascular phenotype
p.Gln123= Multiple submitters Cardiovascular phenotype
p.Glu169= Multiple submitters cardiomyopathy
p.Glu239= Multiple submitters atrial septal defect 5
p.Glu255= Multiple submitters cardiomyopathy
p.Glu363= Multiple submitters atrial septal defect 5
p.Glu366= Multiple submitters atrial septal defect 5
p.Glu59= Multiple submitters Cardiovascular phenotype
p.Gly152= Multiple submitters atrial septal defect 5
p.Gly17= Multiple submitters dilated cardiomyopathy 1R
p.Gly199= Multiple submitters dilated cardiomyopathy 1R
p.Gly22= Multiple submitters hypertrophic cardiomyopathy
p.Gly247= Multiple submitters hypertrophic cardiomyopathy 11
p.Gly25= Multiple submitters hypertrophic cardiomyopathy
p.Gly25= Multiple submitters atrial septal defect 5
p.His103= Multiple submitters cardiomyopathy
p.His175= Multiple submitters cardiomyopathy
p.Ile167= Multiple submitters dilated cardiomyopathy 1R
p.Ile252= Multiple submitters dilated cardiomyopathy 1R
p.Ile36= Multiple submitters Cardiovascular phenotype
p.Ile66= Multiple submitters hypertrophic cardiomyopathy 11
p.Ile78= Multiple submitters hypertrophic cardiomyopathy
p.Leu10= Multiple submitters Cardiovascular phenotype
p.Leu155= Multiple submitters Cardiovascular phenotype
p.Leu180= Multiple submitters cardiomyopathy
p.Leu218= Multiple submitters cardiomyopathy
p.Leu301= Multiple submitters Cardiovascular phenotype
p.Leu348= Multiple submitters hypertrophic cardiomyopathy 11
p.Leu351= Multiple submitters hypertrophic cardiomyopathy 11
p.Lys361= Multiple submitters hypertrophic cardiomyopathy
p.Phe264= Multiple submitters Cardiovascular phenotype
p.Phe377= Multiple submitters Cardiovascular phenotype
p.Pro166= Multiple submitters hypertrophic cardiomyopathy 11
p.Pro174= Multiple submitters hypertrophic cardiomyopathy 11
p.Pro266= Multiple submitters Cardiovascular phenotype
p.Pro266= Multiple submitters cardiomyopathy
p.Pro335= Multiple submitters atrial septal defect 5
p.Pro369= Multiple submitters atrial septal defect 5
p.Pro40= Multiple submitters hypertrophic cardiomyopathy 11
p.Ser147= Multiple submitters Cardiovascular phenotype
p.Ser325= Multiple submitters Cardiovascular phenotype
p.Ser346= Multiple submitters hypertrophic cardiomyopathy 11
p.Ser352= Multiple submitters Cardiovascular phenotype
p.Thr305= Multiple submitters Cardiovascular phenotype
p.Thr68= Multiple submitters cardiomyopathy
p.Tyr135= Multiple submitters hypertrophic cardiomyopathy
p.Tyr168= Multiple submitters cardiomyopathy
p.Tyr190= Multiple submitters dilated cardiomyopathy 1R
p.Tyr281= Multiple submitters Cardiovascular phenotype
p.Tyr55= Multiple submitters Cardiovascular phenotype
p.Val136= Multiple submitters Cardiovascular phenotype
p.Val141= Multiple submitters Cardiovascular phenotype
p.Val203= Multiple submitters atrial septal defect 5
p.Val211= Multiple submitters Cardiovascular phenotype
p.Val249= Multiple submitters dilated cardiomyopathy 1R
p.Val47= Multiple submitters atrial septal defect 5
p.Val98= Multiple submitters Cardiovascular phenotype
p.Val98= Multiple submitters cardiomyopathy
c.129+10C>T Single submitter hypertrophic cardiomyopathy 11
c.129+11C>T Single submitter hypertrophic cardiomyopathy 11
c.129+12_129+13delinsCT Single submitter
c.129+13C>T Single submitter atrial septal defect 5
c.129+14C>G Single submitter atrial septal defect 5
c.129+14C>T Single submitter atrial septal defect 5
c.129+15G>A Single submitter hypertrophic cardiomyopathy 11
c.129+15G>C Single submitter atrial septal defect 5
c.129+17G>T Single submitter hypertrophic cardiomyopathy 11
c.129+18C>T Single submitter atrial septal defect 5
c.129+219_129+224del Single submitter
c.129+7T>G Single submitter atrial septal defect 5
c.129+8T>A Single submitter dilated cardiomyopathy 1R
c.130-17A>C Single submitter
c.130-17A>G Single submitter atrial septal defect 5
c.130-18C>A Single submitter hypertrophic cardiomyopathy 11
c.130-18C>G Single submitter hypertrophic cardiomyopathy 11
c.130-4A>G Single submitter atrial septal defect 5
c.130-4A>T Single submitter hypertrophic cardiomyopathy 11
c.130-5C>T Single submitter cardiomyopathy
c.454+13C>A Single submitter dilated cardiomyopathy 1R
c.454+18G>A Single submitter hypertrophic cardiomyopathy 11
c.454+8G>T Single submitter
c.455-18G>A Single submitter dilated cardiomyopathy 1R
c.455-18G>C Single submitter hypertrophic cardiomyopathy 11
c.455-5G>T Single submitter atrial septal defect 5
c.455-7C>G Single submitter hypertrophic cardiomyopathy
c.616+10T>C Single submitter dilated cardiomyopathy 1R
c.616+5GT[6] Single submitter hypertrophic cardiomyopathy 11
c.616+7G>A Single submitter hypertrophic cardiomyopathy 11
c.616+7G>T Single submitter hypertrophic cardiomyopathy 11
c.616+8T>C Single submitter
c.617-10A>G Single submitter atrial septal defect 5
c.617-11T>C Single submitter dilated cardiomyopathy 1R
c.617-12_617-11del Single submitter cardiomyopathy
c.808+18G>A Single submitter hypertrophic cardiomyopathy 11
c.808+20G>A Single submitter hypertrophic cardiomyopathy 11
c.808+8G>T Single submitter hypertrophic cardiomyopathy 11
c.808+9T>C Single submitter hypertrophic cardiomyopathy 11
c.809-11C>A Single submitter dilated cardiomyopathy 1R
c.809-12_809-11del Single submitter cardiomyopathy
c.809-12_809-11delinsTGAA Single submitter cardiomyopathy
c.809-12_809-11delinsTGTGAA Single submitter cardiomyopathy
c.809-12_809-11insGT Single submitter atrial septal defect 5
c.809-12_809-11insGTGG Single submitter dilated cardiomyopathy 1R
c.809-12_809-11insGTGTGG Single submitter atrial septal defect 5
c.809-12A>T Single submitter dilated cardiomyopathy 1R
c.809-14T>G Single submitter atrial septal defect 5
c.809-16del Single submitter
c.809-18_809-17insTGTGTA Single submitter dilated cardiomyopathy 1R
c.809-18T>A Single submitter atrial septal defect 5
c.809-20_809-19insTGTA Single submitter hypertrophic cardiomyopathy 11
c.809-20_809-19insTGTC Single submitter atrial septal defect 5
c.809-28_809-11delinsAA Single submitter cardiomyopathy
c.809-4C>T Single submitter cardiomyopathy
c.809-58TG[12] Single submitter hypertrophic cardiomyopathy 11
c.809-58TG[30] Single submitter atrial septal defect 5
c.809-58TG[32] Single submitter hypertrophic cardiomyopathy 11
c.809-58TG[36] Single submitter
c.990+14_990+15insA Single submitter atrial septal defect 5
c.990+14G>A Single submitter atrial septal defect 5
c.990+15T>C Single submitter dilated cardiomyopathy 1R
c.991-15G>A Single submitter hypertrophic cardiomyopathy
c.991-18T>G Single submitter hypertrophic cardiomyopathy 11
c.991-262C>T Single submitter
c.991-4G>A Single submitter atrial septal defect 5
c.991-6C>G Single submitter atrial septal defect 5
c.991-8T>A Single submitter hypertrophic cardiomyopathy 11
c.-17C>G Single submitter
c.-36C>G Single submitter
c.-36CCGCC[3] Single submitter
c.-44G>A Single submitter
c.*1004A>G Single submitter dilated cardiomyopathy 1R
c.*1513T>C Single submitter dilated cardiomyopathy 1R
c.*16C>T Single submitter
c.*2053G>T Single submitter hypertrophic cardiomyopathy 11
c.*518A>G Single submitter dilated cardiomyopathy 1R
c.*688T>G Single submitter hypertrophic cardiomyopathy 11
c.*846G>A Single submitter dilated cardiomyopathy 1R
c.*856G>A Single submitter hypertrophic cardiomyopathy 11
c.*868T>G Single submitter dilated cardiomyopathy 1R
p.Ala140= Single submitter atrial septal defect 5
p.Ala172= Single submitter cardiomyopathy
p.Ala21= Single submitter cardiomyopathy
p.Ala222= Single submitter Cardiovascular phenotype
p.Ala230= Single submitter Cardiovascular phenotype
p.Ala297= Single submitter cardiomyopathy
p.Ala321= Single submitter atrial septal defect 5
p.Ala323= Single submitter hypertrophic cardiomyopathy 11
p.Ala333= Single submitter dilated cardiomyopathy 1R
p.Ala60= Single submitter cardiomyopathy
p.Arg212= Single submitter dilated cardiomyopathy 1R
p.Arg258= Single submitter cardiomyopathy
p.Arg30= Single submitter hypertrophic cardiomyopathy 11
p.Asn117= Single submitter atrial septal defect 5
p.Asp156= Single submitter dilated cardiomyopathy 1R
p.Asp186= Single submitter cardiomyopathy
p.Cys259= Single submitter Cardiovascular phenotype
p.Cys287= Single submitter hypertrophic cardiomyopathy 11
p.Gln248= Single submitter dilated cardiomyopathy 1R
p.Glu102= Single submitter hypertrophic cardiomyopathy
p.Glu109= Single submitter Cardiovascular phenotype
p.Glu127= Single submitter cardiomyopathy
p.Glu216= Single submitter hypertrophic cardiomyopathy 11
p.Glu228= Single submitter Cardiovascular phenotype
p.Glu272= Single submitter hypertrophic cardiomyopathy
p.Glu278= Single submitter hypertrophic cardiomyopathy
p.Glu6= Single submitter cardiomyopathy
p.Glu95= Single submitter dilated cardiomyopathy 1R
p.Gly148= Single submitter hypertrophic cardiomyopathy
p.Gly15= Single submitter hypertrophic cardiomyopathy 11
p.Gly160= Single submitter cardiomyopathy
p.Gly247= Single submitter cardiomyopathy
p.Gly345= Single submitter hypertrophic cardiomyopathy
p.Gly368= Single submitter dilated cardiomyopathy 1R
p.Gly44= Single submitter atrial septal defect 5
p.Gly50= Single submitter hypertrophic cardiomyopathy 11
p.Gly65= Single submitter hypertrophic cardiomyopathy 11
p.His163= Single submitter atrial septal defect 5
p.His373= Single submitter hypertrophic cardiomyopathy 11
p.His75= Single submitter Cardiovascular phenotype
p.His89= Single submitter hypertrophic cardiomyopathy 11
p.Ile124= Single submitter hypertrophic cardiomyopathy 11
p.Ile138= Single submitter cardiomyopathy
p.Ile153= Single submitter hypertrophic cardiomyopathy 11
p.Ile177= Single submitter hypertrophic cardiomyopathy
p.Ile284= Single submitter hypertrophic cardiomyopathy 11
p.Ile331= Single submitter hypertrophic cardiomyopathy 11
p.Ile371= Single submitter atrial septal defect 5
p.Ile66= Single submitter hypertrophic cardiomyopathy
p.Ile77= Single submitter Cardiovascular phenotype
p.Leu10= Single submitter atrial septal defect 5
p.Leu106= Single submitter Cardiovascular phenotype
p.Leu107= Single submitter hypertrophic cardiomyopathy
p.Leu142= Single submitter cardiomyopathy
p.Leu142= Single submitter atrial septal defect 5
p.Leu144= Single submitter Cardiovascular phenotype
p.Leu155= Single submitter cardiomyopathy
p.Leu18= Single submitter atrial septal defect 5
p.Leu195= Single submitter cardiomyopathy
p.Leu238= Single submitter hypertrophic cardiomyopathy 11
p.Leu263= Single submitter Cardiovascular phenotype
p.Leu263= Single submitter hypertrophic cardiomyopathy 11
p.Leu295= Single submitter atrial septal defect 5
p.Leu67= Single submitter hypertrophic cardiomyopathy 11
p.Leu69= Single submitter hypertrophic cardiomyopathy 11
p.Lys193= Single submitter hypertrophic cardiomyopathy 11
p.Lys240= Single submitter cardiomyopathy
p.Lys86= Single submitter cardiomyopathy
p.Phe33= Single submitter atrial septal defect 5
p.Pro100= Single submitter hypertrophic cardiomyopathy 11
p.Pro104= Single submitter dilated cardiomyopathy 1R
p.Pro111= Single submitter atrial septal defect 5
p.Pro114= Single submitter hypertrophic cardiomyopathy 11
p.Ser143= Single submitter atrial septal defect 5
p.Ser157= Single submitter hypertrophic cardiomyopathy 11
p.Ser16= Single submitter cardiomyopathy
p.Ser201= Single submitter cardiomyopathy
p.Ser235= Single submitter dilated cardiomyopathy 1R
p.Ser302= Single submitter hypertrophic cardiomyopathy 11
p.Ser350= Single submitter cardiomyopathy
p.Thr105= Single submitter Cardiovascular phenotype
p.Thr108= Single submitter hypertrophic cardiomyopathy 11
p.Thr108= Single submitter Cardiovascular phenotype
p.Thr122= Single submitter cardiomyopathy
p.Thr128= Single submitter dilated cardiomyopathy 1R
p.Thr150= Single submitter cardiomyopathy
p.Thr204= Single submitter atrial septal defect 5
p.Thr231= Single submitter Cardiovascular phenotype
p.Thr251= Single submitter hypertrophic cardiomyopathy 11
p.Thr262= Single submitter Cardiovascular phenotype
p.Thr280= Single submitter
p.Thr306= Single submitter
p.Thr8= Single submitter Cardiovascular phenotype
p.Thr8= Single submitter hypertrophic cardiomyopathy 11
p.Tyr308= Single submitter atrial septal defect 5
p.Tyr71= Single submitter hypertrophic cardiomyopathy 11
p.Val211= Single submitter
p.Val221= Single submitter cardiomyopathy
p.Val341= Single submitter hypertrophic cardiomyopathy
p.Val47= Single submitter atrial septal defect 5
p.Arg39His No assertion criteria EBV-positive nodal T- and NK-cell lymphoma

Uncertain significance 431

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

p.Gly345Val Expert panel hypertrophic cardiomyopathy ⚠
p.Pro266Leu Expert panel hypertrophic cardiomyopathy ⚠
p.Val56Ile Expert panel dilated cardiomyopathy ⚠
c.129+3A>G Multiple submitters dilated cardiomyopathy 1R
c.130-3T>C Multiple submitters hypertrophic cardiomyopathy 11
c.454+5G>C Multiple submitters cardiomyopathy
c.455-6G>A Multiple submitters cardiomyopathy
c.808+1G>C Multiple submitters dilated cardiomyopathy 1R
c.808+3G>A Multiple submitters Cardiovascular phenotype
c.808+4A>G Multiple submitters cardiomyopathy
c.990+6G>C Multiple submitters dilated cardiomyopathy 1R
c.-12A>G Multiple submitters cardiomyopathy
c.-1G>A Multiple submitters cardiomyopathy
c.*1G>T Multiple submitters cardiomyopathy
c.*388G>C Multiple submitters hypertrophic cardiomyopathy 11
c.*39C>T Multiple submitters dilated cardiomyopathy 1R
p.Ala133Thr Multiple submitters dilated cardiomyopathy 1R ⚠
p.Ala133Val Multiple submitters cardiomyopathy ⚠
p.Ala137Thr Multiple submitters atrial septal defect 5 ⚠
p.Ala21Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala222Ser Multiple submitters ⚠
p.Ala232Val Multiple submitters atrial septal defect 5 ⚠
p.Ala28Val Multiple submitters hypertrophic cardiomyopathy 11 ⚠
p.Ala321Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala323Pro Multiple submitters hypertrophic cardiomyopathy 11 ⚠
p.Ala323Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala367Thr Multiple submitters cardiomyopathy ⚠
p.Ala60Thr Multiple submitters cardiomyopathy ⚠
p.Arg185Gln Multiple submitters atrial septal defect 5 ⚠
p.Arg208Cys Multiple submitters atrial septal defect 5 ⚠
p.Arg208His Multiple submitters Cardiovascular phenotype ⚠
p.Arg208Ser Multiple submitters hypertrophic cardiomyopathy 11 ⚠
p.Arg374Cys Multiple submitters hypertrophic cardiomyopathy 11 ⚠
p.Arg64Lys Multiple submitters Cardiovascular phenotype ⚠
p.Asn130Ser Multiple submitters cardiomyopathy ⚠
p.Asn298Asp Multiple submitters hypertrophic cardiomyopathy 11 ⚠
p.Asp159Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp159Glu Multiple submitters atrial septal defect 5 ⚠
p.Asp181Asn Multiple submitters hypertrophic cardiomyopathy 11 ⚠
p.Asp181His Multiple submitters atrial septal defect 5 ⚠
p.Asp186fs Multiple submitters Cardiovascular phenotype
p.Asp224Gly Multiple submitters hypertrophic cardiomyopathy 11 ⚠
p.Asp365Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp4Asn Multiple submitters atrial septal defect 5 ⚠
p.Asp4His Multiple submitters atrial septal defect 5 ⚠
p.Asp53Val Multiple submitters Cardiovascular phenotype ⚠
p.Asp82Glu Multiple submitters hypertrophic cardiomyopathy ⚠
p.Cys2Tyr Multiple submitters hypertrophic cardiomyopathy 11 ⚠
p.Gln356Arg Multiple submitters hypertrophic cardiomyopathy 11 ⚠
p.Gln362Pro Multiple submitters dilated cardiomyopathy 1R ⚠
p.Gln43= Multiple submitters Cardiovascular phenotype
p.Glu318Lys Multiple submitters atrial septal defect 5 ⚠
p.Gly152Ser Multiple submitters atrial septal defect 5 ⚠
p.Gly247Ser Multiple submitters Cardiovascular phenotype ⚠
p.Gly253Val Multiple submitters dilated cardiomyopathy 1R ⚠
p.Gly303Val Multiple submitters hypertrophic cardiomyopathy 11 ⚠
p.Gly368Asp Multiple submitters Cardiovascular phenotype ⚠
p.His103Gln Multiple submitters atrial septal defect 5 ⚠
p.His175fs Multiple submitters atrial septal defect 5
p.His175Pro Multiple submitters hypertrophic cardiomyopathy 11 ⚠
p.His89Arg Multiple submitters dilated cardiomyopathy 1R ⚠
p.Ile124Met Multiple submitters hypertrophic cardiomyopathy 11 ⚠
p.Ile167Thr Multiple submitters atrial septal defect 5 ⚠
p.Ile177Val Multiple submitters Cardiovascular phenotype ⚠
p.Ile194Met Multiple submitters Cardiovascular phenotype ⚠
p.Ile252Met Multiple submitters hypertrophic cardiomyopathy 11 ⚠
p.Ile252Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile331Phe Multiple submitters hypertrophic cardiomyopathy 11 ⚠
p.Ile332Thr Multiple submitters hypertrophic cardiomyopathy 11 ⚠
p.Ile332Val Multiple submitters cardiomyopathy ⚠
p.Ile36Met Multiple submitters hypertrophic cardiomyopathy 11 ⚠
p.Ile371Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile73Val Multiple submitters Cardiovascular phenotype ⚠
p.Ile77Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu195Phe Multiple submitters Cardiovascular phenotype ⚠
p.Leu238Pro Multiple submitters dilated cardiomyopathy 1R ⚠
p.Leu244Met Multiple submitters atrial septal defect 5 ⚠
p.Leu96Phe Multiple submitters hypertrophic cardiomyopathy 11 ⚠
p.Lys193Asn Multiple submitters atrial septal defect 5 ⚠
p.Lys20fs Multiple submitters Cardiovascular phenotype
p.Lys63Arg Multiple submitters atrial septal defect 5 ⚠
p.Met125Thr Multiple submitters Cardiovascular phenotype ⚠
p.Met178Leu Multiple submitters Cardiovascular phenotype ⚠
p.Met229Ile Multiple submitters Cardiovascular phenotype ⚠
p.Met285Lys Multiple submitters dilated cardiomyopathy 1R ⚠
p.Met357Thr Multiple submitters atrial septal defect 5 ⚠
p.Phe257Leu Multiple submitters Cardiovascular phenotype ⚠
p.Phe268Leu Multiple submitters cardiomyopathy ⚠
p.Pro104Leu Multiple submitters dilated cardiomyopathy 1R ⚠
p.Pro166Ser Multiple submitters atrial septal defect 5 ⚠
p.Pro174His Multiple submitters Cardiovascular phenotype ⚠
p.Pro174Leu Multiple submitters dilated cardiomyopathy 1R ⚠
p.Pro324Ser Multiple submitters hypertrophic cardiomyopathy 11 ⚠
p.Pro34Arg Multiple submitters Cardiovascular phenotype ⚠
p.Pro34Gln Multiple submitters Cardiovascular phenotype ⚠
p.Ser201Phe Multiple submitters Cardiovascular phenotype ⚠
p.Ser201Pro Multiple submitters atrial septal defect 5 ⚠
p.Ser236Phe Multiple submitters Cardiovascular phenotype ⚠
p.Ser283Thr Multiple submitters hypertrophic cardiomyopathy 11 ⚠
p.Ser325Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ser370Cys Multiple submitters atrial septal defect 5 ⚠
p.Ser54Phe Multiple submitters atrial septal defect 5 ⚠
p.Thr128Asn Multiple submitters hypertrophic cardiomyopathy 11 ⚠
p.Thr151Ile Multiple submitters hypertrophic cardiomyopathy 11 ⚠
p.Thr162Ile Multiple submitters hypertrophic cardiomyopathy 11 ⚠
p.Thr188Ile Multiple submitters atrial septal defect 5 ⚠
p.Thr205Ser Multiple submitters hypertrophic cardiomyopathy ⚠
p.Thr251Ala Multiple submitters Cardiovascular phenotype ⚠
p.Thr7Ser Multiple submitters cardiomyopathy ⚠
p.Thr8Ala Multiple submitters Cardiovascular phenotype ⚠
p.Tyr220His Multiple submitters ⚠
p.Tyr296His Multiple submitters Cardiovascular phenotype ⚠
p.Tyr364Asn Multiple submitters hypertrophic cardiomyopathy 11 ⚠
p.Tyr93Cys Multiple submitters cardiomyopathy ⚠
c.119_129+14del Single submitter atrial septal defect 5
c.130-13T>A Single submitter cardiomyopathy
c.130-2A>T Single submitter Cardiovascular phenotype
c.455-3C>A Single submitter Cardiovascular phenotype
c.616+1G>A Single submitter
c.616+3G>A Single submitter dilated cardiomyopathy 1R
c.616+4_616+7del Single submitter hypertrophic cardiomyopathy 11
c.617-11del Single submitter hypertrophic cardiomyopathy
c.617-1G>C Single submitter cardiomyopathy
c.617-7del Single submitter hypertrophic cardiomyopathy
c.617-7T>A Single submitter cardiomyopathy
c.809-11C>G Single submitter atrial septal defect 5
c.809-12_809-11insGG Single submitter atrial septal defect 5
c.809-13_809-12insGTGA Single submitter atrial septal defect 5
c.809-14_809-11delinsAA Single submitter cardiomyopathy
c.809-14del Single submitter
c.809-18del Single submitter
c.809-1G>A Single submitter cardiomyopathy
c.809-1G>C Single submitter hypertrophic cardiomyopathy
c.809-3C>T Single submitter atrial septal defect 5
c.809-58TG[11] Single submitter hypertrophic cardiomyopathy 11
c.809-58TG[33] Single submitter
c.809-58TG[9] Single submitter hypertrophic cardiomyopathy 11
c.990+14_990+15insAAAGAACTTTTGGGGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGCATTTCCATCTGAGGTACCNNNNNNNNNNAAAAAAAAAAAAAAAAA Single submitter hypertrophic cardiomyopathy 11
c.990+6G>T Single submitter Cardiovascular phenotype
c.991-10C>A Single submitter hypertrophic cardiomyopathy
c.991-2del Single submitter atrial septal defect 5
c.-13A>G Single submitter hypertrophic cardiomyopathy
c.-14G>C Single submitter cardiomyopathy
c.-16del Single submitter hypertrophic cardiomyopathy
c.-192A>G Single submitter hypertrophic cardiomyopathy 11
c.-2A>C Single submitter
c.-3A>T Single submitter Cardiovascular phenotype
c.-5C>T Single submitter hypertrophic cardiomyopathy
c.-79G>A Single submitter dilated cardiomyopathy 1R
c.*1133G>T Single submitter dilated cardiomyopathy 1R
c.*1221A>T Single submitter dilated cardiomyopathy 1R
c.*1230C>T Single submitter hypertrophic cardiomyopathy 11
c.*1303C>G Single submitter hypertrophic cardiomyopathy 11
c.*1378C>T Single submitter hypertrophic cardiomyopathy 11
c.*1471G>A Single submitter dilated cardiomyopathy 1R
c.*1624G>T Single submitter hypertrophic cardiomyopathy 11
c.*1749C>T Single submitter hypertrophic cardiomyopathy 11
c.*1774G>A Single submitter hypertrophic cardiomyopathy 11
c.*1800C>T Single submitter hypertrophic cardiomyopathy 11
c.*1802C>T Single submitter hypertrophic cardiomyopathy 11
c.*1810C>T Single submitter dilated cardiomyopathy 1R
c.*1893C>T Single submitter dilated cardiomyopathy 1R
c.*1919G>A Single submitter hypertrophic cardiomyopathy 11
c.*1987G>A Single submitter dilated cardiomyopathy 1R
c.*1G>A Single submitter cardiomyopathy
c.*20T>A Single submitter hypertrophic cardiomyopathy 11
c.*2179T>C Single submitter hypertrophic cardiomyopathy 11
c.*2188T>C Single submitter hypertrophic cardiomyopathy 11
c.*2206C>G Single submitter dilated cardiomyopathy 1R
c.*2261A>G Single submitter hypertrophic cardiomyopathy 11
c.*2275C>T Single submitter dilated cardiomyopathy 1R
c.*2292C>T Single submitter dilated cardiomyopathy 1R
c.*2A>G Single submitter cardiomyopathy
c.*35A>T Single submitter dilated cardiomyopathy 1R
c.*3T>C Single submitter
c.*40G>A Single submitter dilated cardiomyopathy 1R
c.*484C>T Single submitter hypertrophic cardiomyopathy 11
c.*584T>G Single submitter hypertrophic cardiomyopathy 11
c.*590A>G Single submitter hypertrophic cardiomyopathy 11
c.*5C>T Single submitter hypertrophic cardiomyopathy
c.*619A>T Single submitter dilated cardiomyopathy 1R
c.*679C>G Single submitter dilated cardiomyopathy 1R
c.*6C>T Single submitter cardiomyopathy
c.*742C>G Single submitter dilated cardiomyopathy 1R
c.*752C>A Single submitter hypertrophic cardiomyopathy 11
c.*756C>T Single submitter hypertrophic cardiomyopathy 11
c.*777C>T Single submitter dilated cardiomyopathy 1R
c.*865T>C Single submitter dilated cardiomyopathy 1R
c.*927G>A Single submitter hypertrophic cardiomyopathy 11
p.Ala110Thr Single submitter ⚠
p.Ala110Val Single submitter atrial septal defect 5 ⚠
p.Ala133Pro Single submitter dilated cardiomyopathy 1R ⚠
p.Ala137Val Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Ala172Val Single submitter Cardiovascular phenotype ⚠
p.Ala176Val Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Ala21Val Single submitter atrial septal defect 5 ⚠
p.Ala230Val Single submitter atrial septal defect 5 ⚠
p.Ala232Gly Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Ala232Ser Single submitter atrial septal defect 5 ⚠
p.Ala232Thr Single submitter ⚠
p.Ala233Pro Single submitter dilated cardiomyopathy 1R ⚠
p.Ala297Gly Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Ala297Pro Single submitter ⚠
p.Ala312fs Single submitter hypertrophic cardiomyopathy 11
p.Ala312Ser Single submitter Cardiovascular phenotype ⚠
p.Ala31Val Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Ala323Ser Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Ala333Ser Single submitter cardiomyopathy ⚠
p.Ala367Gly Single submitter dilated cardiomyopathy 1R ⚠
p.Ala367Val Single submitter hypertrophic cardiomyopathy ⚠
p.Ala60Ser Single submitter Cardiovascular phenotype ⚠
p.Ala60Val Single submitter ⚠
p.Ala99Val Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Ala9Thr Single submitter ⚠
p.Arg185Leu Single submitter atrial septal defect 5
p.Arg198Cys Single submitter hypertrophic cardiomyopathy ⚠
p.Arg212Cys Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Arg256His Single submitter dilated cardiomyopathy 1R ⚠
p.Arg256Pro Single submitter atrial septal defect 5 ⚠
p.Arg292Pro Single submitter Cardiovascular phenotype ⚠
p.Arg97Cys Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Arg97His Single submitter dilated cardiomyopathy 1R ⚠
p.Asn113His Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Asn113Tyr Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Asn117delinsCysSerGlnArgProArgTer Single submitter atrial septal defect 5
p.Asn130Asp Single submitter atrial septal defect 5 ⚠
p.Asn14Asp Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Asn227Asp Single submitter hypertrophic cardiomyopathy ⚠
p.Asn299Ser Single submitter cardiomyopathy ⚠
p.Asn299Tyr Single submitter atrial septal defect 5 ⚠
p.Asp186Glu Single submitter dilated cardiomyopathy 1R ⚠
p.Asp189Ala Single submitter dilated cardiomyopathy 1R ⚠
p.Asp189His Single submitter dilated cardiomyopathy 1R ⚠
p.Asp213Glu Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Asp224Asn Single submitter Cardiovascular phenotype ⚠
p.Asp224fs Single submitter hypertrophic cardiomyopathy 11
p.Asp26Glu Single submitter hypertrophic cardiomyopathy ⚠
p.Asp27Glu Single submitter ⚠
p.Asp294Glu Single submitter dilated cardiomyopathy 1R ⚠
p.Asp365Tyr Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Asp3His Single submitter ⚠
p.Asp4Glu Single submitter atrial septal defect 5 ⚠
p.Asp53Asn Single submitter dilated cardiomyopathy 1R ⚠
p.Asp53Tyr Single submitter ⚠
p.Asp82Asn Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Cys12Tyr Single submitter hypertrophic cardiomyopathy ⚠
p.Cys219Tyr Single submitter ⚠
p.Cys259Ser Single submitter atrial septal defect 5 ⚠
p.Gln265His Single submitter ⚠
p.Gln355Arg Single submitter dilated cardiomyopathy 1R ⚠
p.Gln355Ter Single submitter hypertrophic cardiomyopathy 11
p.Gln362Ter Single submitter
p.Gln51Ter Single submitter hypertrophic cardiomyopathy 11
p.Glu101Gly Single submitter Cardiovascular phenotype ⚠
p.Glu101Val Single submitter dilated cardiomyopathy 1R ⚠
p.Glu119Gln Single submitter Paediatric disorders ⚠
p.Glu169fs Single submitter cardiomyopathy
p.Glu197Gly Single submitter ⚠
p.Glu216Ter Single submitter
p.Glu239Ter Single submitter
p.Glu243Gln Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Glu318Asp Single submitter ⚠
p.Glu336fs Single submitter Cardiovascular phenotype
p.Glu363dup Single submitter cardiomyopathy
p.Glu6Asp Single submitter Cardiovascular phenotype ⚠
p.Glu74Gln Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Gly148fs Single submitter hypertrophic cardiomyopathy 11
p.Gly152Asp Single submitter dilated cardiomyopathy 1A ⚠
p.Gly152Val Single submitter dilated cardiomyopathy 1R ⚠
p.Gly158Glu Single submitter atrial septal defect 5 ⚠
p.Gly15Arg Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Gly170Asp Single submitter dilated cardiomyopathy 1R ⚠
p.Gly184_Arg185del Single submitter
p.Gly253Ala Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Gly304Asp Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Gly304Ser Single submitter Cardiovascular phenotype ⚠
p.Gly345Ala Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Gly345fs Single submitter hypertrophic cardiomyopathy 11
p.Gly50Ala Single submitter Cardiovascular phenotype ⚠
p.Gly57Ser Single submitter atrial septal defect 5 ⚠
p.Gly65Val Single submitter dilated cardiomyopathy 1R ⚠
p.His175Arg Single submitter Cardiovascular phenotype ⚠
p.His42Tyr Single submitter atrial septal defect 5 ⚠
p.Ile153Thr Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Ile167Met Single submitter atrial septal defect 5 ⚠
p.Ile167Ser Single submitter dilated cardiomyopathy 1R ⚠
p.Ile177Phe Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Ile250Val Single submitter dilated cardiomyopathy 1R ⚠
p.Ile276Phe Single submitter cardiomyopathy ⚠
p.Ile311Asn Single submitter ⚠
p.Ile319Thr Single submitter ⚠
p.Ile331Val Single submitter hypertrophic cardiomyopathy 11 ⚠
p.Ile343fs Single submitter dilated cardiomyopathy 1R
p.Ile347Val Single submitter ⚠
p.Ile36Leu Single submitter atrial septal defect 5 ⚠
p.Ile371Val Single submitter Cardiovascular phenotype ⚠
p.Ile66Met Single submitter Cardiovascular phenotype ⚠
p.Ile78Val Single submitter hypertrophic cardiomyopathy ⚠
p.Ile87Val Single submitter ⚠
p.Leu106Val Single submitter ⚠