×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.100
CausalMutation
CLINVAR
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257
2017
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.100
CausalMutation
CLINVAR
Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.
25335496
2015
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.100
CausalMutation
CLINVAR
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
25611685
2015
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.100
CausalMutation
CLINVAR
A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.
25740977
2015
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.100
CausalMutation
CLINVAR
Structural characterization of the C3 domain of cardiac myosin binding protein C and its hypertrophic cardiomyopathy-related R502W mutant.
25058872
2014
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.100
CausalMutation
CLINVAR
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
25524337
2014
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.100
CausalMutation
CLINVAR
Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing.
25342278
2014
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.100
CausalMutation
CLINVAR
Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression.
24704860
2014
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.100
CausalMutation
CLINVAR
Significance of left ventricular apical-basal muscle bundle identified by cardiovascular magnetic resonance imaging in patients with hypertrophic cardiomyopathy.
24810389
2014
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.100
CausalMutation
CLINVAR
Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.
24093860
2013
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.100
CausalMutation
CLINVAR
Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy.
23690394
2013
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.100
CausalMutation
CLINVAR
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.
23299917
2013
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.100
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
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.100
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
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.100
CausalMutation
CLINVAR
Prevalence and clinical profile of myocardial crypts in hypertrophic cardiomyopathy.
22563033
2012
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.100
CausalMutation
CLINVAR
Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy.
22765922
2012
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.100
CausalMutation
CLINVAR
Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice.
21239446
2011
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.100
CausalMutation
CLINVAR
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.
20624503
2011
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.100
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
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.100
CausalMutation
CLINVAR
Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.
20359594
2010
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.100
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
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.100
CausalMutation
CLINVAR
Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands.
20505798
2010
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.100
CausalMutation
CLINVAR
Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy.
20818890
2010
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.100
CausalMutation
CLINVAR
Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy.
20433692
2010
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.100
CausalMutation
CLINVAR
Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy.
20378854
2010