Gene: MYBPC3 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909374
rs121909374
MYBPC3
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.800 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 0.800 CausalMutation CLINVAR Evidence for efficacy of the Italian national pre-participation screening programme for identification of hypertrophic cardiomyopathy in competitive athletes. 16831826

2006
dbSNP: rs121909374
rs121909374
MYBPC3
0.800 GeneticVariation UNIPROT Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. 9562578

1998
dbSNP: rs121909374
rs121909374
MYBPC3
0.800 GeneticVariation UNIPROT Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene. 9541104

1998
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.800 CausalMutation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337

2014
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.800 CausalMutation CLINVAR [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. 19150014

2009
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.800 CausalMutation CLINVAR Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy. 20433692

2010
dbSNP: rs121909374
rs121909374
MYBPC3
0.800 GeneticVariation UNIPROT Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy. 23840593

2013
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.800 CausalMutation CLINVAR Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. 24093860

2013
dbSNP: rs121909374
rs121909374
MYBPC3
0.800 GeneticVariation UNIPROT Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. 11815426

2002
dbSNP: rs121909374
rs121909374
MYBPC3
0.800 GeneticVariation UNIPROT Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. 15519027

2004
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.800 CausalMutation CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381

2015
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.800 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 0.800 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 0.800 CausalMutation CLINVAR Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. 15519027

2004
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.800 CausalMutation CLINVAR New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. 23299917

2013
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.800 CausalMutation CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685

2015
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.800 CausalMutation CLINVAR How do MYBPC3 mutations cause hypertrophic cardiomyopathy? 22057632

2012
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.800 CausalMutation CLINVAR Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene. 9631872

1998
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.800 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 0.800 CausalMutation CLINVAR Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy. 20378854

2010
dbSNP: rs121909374
rs121909374
MYBPC3
0.800 GeneticVariation UNIPROT Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy. 11499719

2001
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.800 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
0.800 GeneticVariation UNIPROT Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy. 9541115

1998