Gene: MYBPC3 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515970
rs397515970
MYBPC3
TA 0.700 CausalMutation CLINVAR

dbSNP: rs730880649
rs730880649
MYBPC3
GT 0.700 CausalMutation CLINVAR

dbSNP: rs863225271
rs863225271
MYBPC3
C 0.700 CausalMutation CLINVAR

dbSNP: rs863225272
rs863225272
MYBPC3
C 0.700 CausalMutation CLINVAR

dbSNP: rs121909374
rs121909374
MYBPC3
G 0.700 CausalMutation CLINVAR Local mechanical oscillations of the cell surface within the range 0.2-30 Hz. 2073894

1990
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.700 CausalMutation CLINVAR Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy. 9048664

1997
dbSNP: rs397515992
rs397515992
MYBPC3
A 0.700 CausalMutation CLINVAR Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene. 9541104

1998
dbSNP: rs397515963
rs397515963
MYBPC3
AC 0.700 CausalMutation CLINVAR Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. 9562578

1998
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.700 CausalMutation CLINVAR Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene. 9631872

1998
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.700 CausalMutation CLINVAR COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes. 10610770

1999
dbSNP: rs397515963
rs397515963
MYBPC3
AC 0.700 CausalMutation CLINVAR A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance. 10736283

2000
dbSNP: rs397515963
rs397515963
MYBPC3
AC 0.700 CausalMutation CLINVAR Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations. 11499718

2001
dbSNP: rs397515963
rs397515963
MYBPC3
AC 0.700 CausalMutation CLINVAR Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy. 11499719

2001
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.700 CausalMutation CLINVAR Relation between QT duration and maximal wall thickness in familial hypertrophic cardiomyopathy. 12117842

2002
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003
dbSNP: rs375882485
rs375882485
MYBPC3
A 0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003
dbSNP: rs397515963
rs397515963
MYBPC3
AC 0.700 CausalMutation CLINVAR The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. 14563344

2003
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.700 CausalMutation CLINVAR Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. 15519027

2004
dbSNP: rs375882485
rs375882485
MYBPC3
A 0.700 CausalMutation CLINVAR Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. 15519027

2004
dbSNP: rs397515992
rs397515992
MYBPC3
A 0.700 CausalMutation CLINVAR Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. 15519027

2004
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.700 CausalMutation CLINVAR Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 16199542

2005
dbSNP: rs375882485
rs375882485
MYBPC3
A 0.700 CausalMutation CLINVAR Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 16199542

2005
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.700 CausalMutation CLINVAR Evidence for efficacy of the Italian national pre-participation screening programme for identification of hypertrophic cardiomyopathy in competitive athletes. 16831826

2006
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.700 CausalMutation CLINVAR A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy. 16858239

2006
dbSNP: rs375882485
rs375882485
MYBPC3
A 0.700 CausalMutation CLINVAR Shared genetic causes of cardiac hypertrophy in children and adults. 18403758

2008