Gene: MYBPC3 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. 15519027

2004
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 Significance of left ventricular apical-basal muscle bundle identified by cardiovascular magnetic resonance imaging in patients with hypertrophic cardiomyopathy. 24810389

2014
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: 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: rs375882485
rs375882485
MYBPC3
A 0.700 CausalMutation CLINVAR Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors. 21839045

2012
dbSNP: rs375882485
rs375882485
MYBPC3
A 0.700 CausalMutation CLINVAR Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome. 22267749

2012
dbSNP: rs375882485
rs375882485
MYBPC3
A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
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 Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy. 23690394

2013
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: 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: rs375882485
rs375882485
MYBPC3
A 0.700 CausalMutation CLINVAR Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy. 20818890

2010
dbSNP: rs375882485
rs375882485
MYBPC3
A 0.700 CausalMutation CLINVAR Prevalence and clinical profile of myocardial crypts in hypertrophic cardiomyopathy. 22563033

2012
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: 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: rs397515992
rs397515992
MYBPC3
A 0.700 CausalMutation CLINVAR Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy. 21302287

2011
dbSNP: rs397515992
rs397515992
MYBPC3
A 0.700 CausalMutation CLINVAR Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. 15519027

2004
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 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 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 Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. 9562578

1998
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