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

2009