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

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
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
0.800 GeneticVariation UNIPROT Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy. 9541115

1998
dbSNP: rs121909374
rs121909374
MYBPC3
0.800 GeneticVariation UNIPROT Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy. 18929575

2008
dbSNP: rs121909374
rs121909374
MYBPC3
0.800 GeneticVariation UNIPROT Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739

2003
dbSNP: rs121909374
rs121909374
MYBPC3
0.800 GeneticVariation UNIPROT Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3. 28265379

2017
dbSNP: rs121909374
rs121909374
MYBPC3
0.800 GeneticVariation UNIPROT "Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy." 12951062

2003
dbSNP: rs121909374
rs121909374
MYBPC3
0.800 GeneticVariation UNIPROT Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003
dbSNP: rs121909374
rs121909374
MYBPC3
0.800 GeneticVariation UNIPROT Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 16199542

2005
dbSNP: rs121909374
rs121909374
MYBPC3
0.800 GeneticVariation UNIPROT Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). 21267010

2011
dbSNP: rs121909374
rs121909374
MYBPC3
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs121909374
rs121909374
MYBPC3
0.800 GeneticVariation UNIPROT Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene. 18957093

2008
dbSNP: rs121909374
rs121909374
MYBPC3
0.800 GeneticVariation UNIPROT Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy. 9048664

1997
dbSNP: rs121909374
rs121909374
MYBPC3
0.800 GeneticVariation UNIPROT Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations. 11499718

2001
dbSNP: rs121909374
rs121909374
MYBPC3
0.800 GeneticVariation UNIPROT Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency. 15114369

2004
dbSNP: rs121909374
rs121909374
MYBPC3
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs121909374
rs121909374
MYBPC3
0.800 GeneticVariation UNIPROT Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. 12818575

2003
dbSNP: rs121909374
rs121909374
MYBPC3
0.800 GeneticVariation UNIPROT A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients. 12628722

2003
dbSNP: rs121909374
rs121909374
MYBPC3
0.800 GeneticVariation UNIPROT Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction? 7744002

1995
dbSNP: rs121909375
rs121909375
MYBPC3
0.800 GeneticVariation UNIPROT Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene. 18957093

2008