Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515912
rs397515912
MYBPC3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		T 0.700 GeneticVariation CLINVAR Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients. 28356264

2017
dbSNP: rs397515912
rs397515912
MYBPC3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		T 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
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		T 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
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		T 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
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		T 0.700 GeneticVariation CLINVAR Perturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutations. 23508784

2013
dbSNP: rs397515912
rs397515912
MYBPC3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		T 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
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		T 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
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		T 0.700 GeneticVariation CLINVAR Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. 18533079

2008