Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515912
rs397515912
MYBPC3
G 0.700 GeneticVariation CLINVAR Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy. 28193612

2017
dbSNP: rs397515912
rs397515912
MYBPC3
G 0.700 GeneticVariation CLINVAR The Burden of Early Phenotypes and the Influence of Wall Thickness in Hypertrophic Cardiomyopathy Mutation Carriers: Findings From the HCMNet Study. 28241245

2017
dbSNP: rs397515912
rs397515912
MYBPC3
G 0.700 GeneticVariation CLINVAR Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients. 28356264

2017
dbSNP: rs397515912
rs397515912
MYBPC3
G 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs397515912
rs397515912
MYBPC3
G 0.700 GeneticVariation CLINVAR A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort. 27483260

2016
dbSNP: rs397515912
rs397515912
MYBPC3
G 0.700 GeneticVariation CLINVAR Comparison of the effects of a truncating and a missense MYBPC3 mutation on contractile parameters of engineered heart tissue. 27108529

2016
dbSNP: rs397515912
rs397515912
MYBPC3
G 0.700 GeneticVariation CLINVAR Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy. 27600940

2016
dbSNP: rs397515912
rs397515912
MYBPC3
G 0.700 GeneticVariation CLINVAR Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. 25351510

2015
dbSNP: rs397515912
rs397515912
MYBPC3
G 0.700 GeneticVariation CLINVAR Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 24793961

2014
dbSNP: rs397515912
rs397515912
MYBPC3
G 0.700 GeneticVariation CLINVAR Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy. 23690394

2013
dbSNP: rs397515912
rs397515912
MYBPC3
G 0.700 GeneticVariation CLINVAR Perturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutations. 23508784

2013
dbSNP: rs397515912
rs397515912
MYBPC3
G 0.700 GeneticVariation CLINVAR Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy. 22765922

2012
dbSNP: rs397515912
rs397515912
MYBPC3
G 0.700 GeneticVariation CLINVAR Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure. 21750094

2011
dbSNP: rs397515912
rs397515912
MYBPC3
G 0.700 GeneticVariation CLINVAR Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations. 21835320

2011
dbSNP: rs397515912
rs397515912
MYBPC3
G 0.700 GeneticVariation CLINVAR Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. 20624503

2011
dbSNP: rs397515912
rs397515912
MYBPC3
G 0.700 GeneticVariation CLINVAR Efficacy of catheter ablation for atrial fibrillation in hypertrophic cardiomyopathy: impact of age, atrial remodelling, and disease progression. 20173211

2010
dbSNP: rs397515912
rs397515912
MYBPC3
G 0.700 GeneticVariation CLINVAR [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. 19150014

2009
dbSNP: rs397515912
rs397515912
MYBPC3
G 0.700 GeneticVariation CLINVAR Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy. 20031602

2009
dbSNP: rs397515912
rs397515912
MYBPC3
G 0.700 GeneticVariation CLINVAR Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. 18533079

2008
dbSNP: rs397515912
rs397515912
MYBPC3
G 0.700 GeneticVariation 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