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 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
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: 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 Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685

2015
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: rs121909374
rs121909374
MYBPC3
G 0.700 CausalMutation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337

2014
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.700 CausalMutation CLINVAR Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing. 25342278

2014
dbSNP: rs190228518
rs190228518
MYBPC3
T 0.700 CausalMutation CLINVAR Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression. 24704860

2014
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: 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: rs121909374
rs121909374
MYBPC3
G 0.700 CausalMutation CLINVAR New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. 23299917

2013
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.700 CausalMutation CLINVAR Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. 24093860

2013
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: 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 Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors. 21839045

2012
dbSNP: rs121909374
rs121909374
MYBPC3
G 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 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 Prevalence and clinical profile of myocardial crypts in hypertrophic cardiomyopathy. 22563033

2012
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: rs121909374
rs121909374
MYBPC3
G 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: rs121909374
rs121909374
MYBPC3
G 0.700 CausalMutation CLINVAR Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice. 21239446

2011
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: 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: rs121909374
rs121909374
MYBPC3
G 0.700 CausalMutation CLINVAR Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy. 20378854

2010