Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516074
rs397516074
0.720 GeneticVariation BEFREE Here, we study possible mechanisms of unbinding using steered molecular dynamics simulations for the complex in the wild type, in single mutations (E258K in C1, E441K in C2), as well as in a double mutation (E258K in C1 + E441K in C2), which are associated with severe HCM. 27267291

2017

dbSNP: rs397516074
rs397516074
T 0.720 CausalMutation CLINVAR Rare variants in genes encoding MuRF1 and MuRF2 are modifiers of hypertrophic cardiomyopathy. 24865491

2014

dbSNP: rs397516074
rs397516074
T 0.720 CausalMutation CLINVAR Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. 25031304

2014

dbSNP: rs397516074
rs397516074
T 0.720 CausalMutation CLINVAR Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. 23233322

2013

dbSNP: rs397516074
rs397516074
T 0.720 CausalMutation CLINVAR Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy. 23690394

2013

dbSNP: rs397516074
rs397516074
T 0.720 CausalMutation CLINVAR E258K HCM-causing mutation in cardiac MyBP-C reduces contractile force and accelerates twitch kinetics by disrupting the cMyBP-C and myosin S2 interaction. 23980194

2013

dbSNP: rs397516074
rs397516074
T 0.720 CausalMutation CLINVAR Molecular modeling of disease causing mutations in domain C1 of cMyBP-C. 23527136

2013

dbSNP: rs397516074
rs397516074
T 0.720 CausalMutation CLINVAR Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy. 23782526

2013

dbSNP: rs397516074
rs397516074
0.720 GeneticVariation BEFREE Our objective was to define the primary contractile effect and molecular disease mechanisms of the prevalent cMyBP-C E258K HCM-causing mutation in nonremodeled murine engineered cardiac tissue (mECT). 23980194

2013

dbSNP: rs397516074
rs397516074
T 0.720 CausalMutation CLINVAR A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death. 22907696

2012

dbSNP: rs397516074
rs397516074
T 0.720 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: rs397516074
rs397516074
T 0.720 CausalMutation CLINVAR Prevalence and clinical profile of myocardial crypts in hypertrophic cardiomyopathy. 22563033

2012

dbSNP: rs397516074
rs397516074
T 0.720 CausalMutation CLINVAR Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. 20359594

2010

dbSNP: rs397516074
rs397516074
T 0.720 CausalMutation CLINVAR Ubiquitin proteasome dysfunction in human hypertrophic and dilated cardiomyopathies. 20159828

2010

dbSNP: rs397516074
rs397516074
T 0.720 CausalMutation CLINVAR Efficacy of catheter ablation for atrial fibrillation in hypertrophic cardiomyopathy: impact of age, atrial remodelling, and disease progression. 20173211

2010

dbSNP: rs397516074
rs397516074
T 0.720 CausalMutation CLINVAR [Study of mutations causing hypertrophic cardiomyopathy in a group of patients from Espirito Santo, Brazil]. 20414521

2010

dbSNP: rs397516074
rs397516074
T 0.720 CausalMutation CLINVAR Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency. 19574547

2009

dbSNP: rs397516074
rs397516074
T 0.720 CausalMutation CLINVAR Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy. 20031602

2009

dbSNP: rs397516074
rs397516074
T 0.720 CausalMutation CLINVAR Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy. 19808356

2009

dbSNP: rs397516074
rs397516074
T 0.720 CausalMutation CLINVAR Nonsense-mediated mRNA decay and ubiquitin-proteasome system regulate cardiac myosin-binding protein C mutant levels in cardiomyopathic mice. 19590044

2009

dbSNP: rs397516074
rs397516074
T 0.720 CausalMutation CLINVAR Crystal structure of the C1 domain of cardiac myosin binding protein-C: implications for hypertrophic cardiomyopathy. 18374358

2008

dbSNP: rs397516074
rs397516074
T 0.720 CausalMutation CLINVAR Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene. 18957093

2008

dbSNP: rs397516074
rs397516074
T 0.720 CausalMutation CLINVAR Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. 18533079

2008

dbSNP: rs397516074
rs397516074
T 0.720 CausalMutation CLINVAR Contribution of inherited heart disease to sudden cardiac death in childhood. 17908752

2007

dbSNP: rs397516074
rs397516074
T 0.720 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