Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516068
rs397516068
MYBPC3
G 0.700 CausalMutation CLINVAR Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults. 28087566

2017
dbSNP: rs397516068
rs397516068
MYBPC3
G 0.700 CausalMutation CLINVAR Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. 26914223

2016
dbSNP: rs397516068
rs397516068
MYBPC3
G 0.700 CausalMutation CLINVAR Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. 24510615

2014
dbSNP: rs397516068
rs397516068
MYBPC3
G 0.700 CausalMutation CLINVAR Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy. 23782526

2013
dbSNP: rs397516068
rs397516068
MYBPC3
G 0.700 CausalMutation CLINVAR Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 23396983

2013
dbSNP: rs397516068
rs397516068
MYBPC3
G 0.700 CausalMutation CLINVAR Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation. 23074333

2012
dbSNP: rs397516068
rs397516068
MYBPC3
G 0.700 CausalMutation CLINVAR In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament. 21415409

2011
dbSNP: rs397516068
rs397516068
MYBPC3
G 0.700 CausalMutation CLINVAR Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. 20624503

2011
dbSNP: rs397516068
rs397516068
MYBPC3
G 0.700 CausalMutation CLINVAR Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy. 20031602

2009
dbSNP: rs397516068
rs397516068
MYBPC3
G 0.700 CausalMutation CLINVAR Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. 20031618

2009
dbSNP: rs397516068
rs397516068
MYBPC3
G 0.700 CausalMutation CLINVAR Myosin binding protein C positioned to play a key role in regulation of muscle contraction: structure and interactions of domain C1. 18926831

2008
dbSNP: rs397516068
rs397516068
MYBPC3
G 0.700 CausalMutation CLINVAR Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. 15519027

2004