Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515963
rs397515963
MYBPC3
AC 0.700 CausalMutation CLINVAR Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects. 25335496

2015
dbSNP: rs397515963
rs397515963
MYBPC3
AC 0.700 CausalMutation CLINVAR Myocardial structural alteration and systolic dysfunction in preclinical hypertrophic cardiomyopathy mutation carriers. 22574137

2012
dbSNP: rs397515963
rs397515963
MYBPC3
AC 0.700 CausalMutation CLINVAR Mortality risk of untreated myosin-binding protein C-related hypertrophic cardiomyopathy: insight into the natural history. 22115648

2011
dbSNP: rs397515963
rs397515963
MYBPC3
AC 0.700 CausalMutation CLINVAR Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. 20505798

2010
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 Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction. 19273718

2009
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: rs397515963
rs397515963
MYBPC3
AC 0.700 CausalMutation CLINVAR Genetic polymorphisms in the renin-angiotensin-aldosterone system associated with expression of left ventricular hypertrophy in hypertrophic cardiomyopathy: a study of five polymorphic genes in a family with a disease causing mutation in the myosin binding protein C gene. 11847170

2002
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 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 Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. 9562578

1998