Gene: MYBPC3 ×
Source: CLINVAR ×
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 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 Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. 20505798

2010
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 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 Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects. 25335496

2015
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: rs397515905
rs397515905
MYBPC3
C 0.700 CausalMutation CLINVAR A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life. 25740977

2015
dbSNP: rs397515905
rs397515905
MYBPC3
C 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: rs397515905
rs397515905
MYBPC3
C 0.700 CausalMutation CLINVAR Structural characterization of the C3 domain of cardiac myosin binding protein C and its hypertrophic cardiomyopathy-related R502W mutant. 25058872

2014
dbSNP: rs397515905
rs397515905
MYBPC3
C 0.700 CausalMutation CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685

2015
dbSNP: rs397515905
rs397515905
MYBPC3
C 0.700 CausalMutation CLINVAR Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. 20624503

2011
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: rs397515905
rs397515905
MYBPC3
C 0.700 CausalMutation CLINVAR Shared genetic causes of cardiac hypertrophy in children and adults. 18403758

2008
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 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 Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy. 22765922

2012
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 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: rs121909374
rs121909374
MYBPC3
G 0.700 CausalMutation CLINVAR A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life. 25740977

2015
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: rs121909374
rs121909374
MYBPC3
G 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 Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. 18533079

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 Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337

2014