Gene: MYBPC3 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.700 CausalMutation CLINVAR Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy. 20433692

2010
dbSNP: rs375882485
rs375882485
MYBPC3
A 0.700 CausalMutation CLINVAR Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy. 20378854

2010
dbSNP: rs375882485
rs375882485
MYBPC3
A 0.700 CausalMutation CLINVAR Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy. 20818890

2010
dbSNP: rs397515905
rs397515905
MYBPC3
C 0.700 CausalMutation CLINVAR The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening. 20019025

2010
dbSNP: rs397515963
rs397515963
MYBPC3
AC 0.700 CausalMutation CLINVAR Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. 20505798

2010
dbSNP: rs397515992
rs397515992
MYBPC3
A 0.700 CausalMutation CLINVAR Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. 20359594

2010
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.700 CausalMutation CLINVAR [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. 19150014

2009
dbSNP: rs375882485
rs375882485
MYBPC3
A 0.700 CausalMutation CLINVAR Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency. 19574547

2009
dbSNP: rs375882485
rs375882485
MYBPC3
A 0.700 CausalMutation CLINVAR Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. 20031618

2009
dbSNP: rs397515905
rs397515905
MYBPC3
C 0.700 CausalMutation CLINVAR A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy. 19659763

2009
dbSNP: rs397515963
rs397515963
MYBPC3
AC 0.700 CausalMutation CLINVAR Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency. 19574547

2009
dbSNP: rs397515963
rs397515963
MYBPC3
AC 0.700 CausalMutation CLINVAR Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutations. 19356534

2009
dbSNP: rs397515963
rs397515963
MYBPC3
AC 0.700 CausalMutation CLINVAR Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction. 19273718

2009
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.700 CausalMutation CLINVAR Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. 18533079

2008
dbSNP: rs375882485
rs375882485
MYBPC3
A 0.700 CausalMutation CLINVAR Shared genetic causes of cardiac hypertrophy in children and adults. 18403758

2008
dbSNP: rs375882485
rs375882485
MYBPC3
A 0.700 CausalMutation CLINVAR Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure. 18761664

2008
dbSNP: rs375882485
rs375882485
MYBPC3
A 0.700 CausalMutation CLINVAR Prevalence, clinical significance, and natural history of left ventricular apical aneurysms in hypertrophic cardiomyopathy. 18809796

2008
dbSNP: rs397515905
rs397515905
MYBPC3
C 0.700 CausalMutation CLINVAR Shared genetic causes of cardiac hypertrophy in children and adults. 18403758

2008
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: 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 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 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