Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs376395543
rs376395543
MYBPC3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		C 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs376395543
rs376395543
MYBPC3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		C 0.700 CausalMutation CLINVAR Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. 24510615

2014
dbSNP: rs376395543
rs376395543
MYBPC3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		C 0.700 CausalMutation CLINVAR Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy. 23674513

2013
dbSNP: rs376395543
rs376395543
MYBPC3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		C 0.700 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: rs376395543
rs376395543
MYBPC3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		C 0.700 CausalMutation CLINVAR Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency. 19574547

2009
dbSNP: rs376395543
rs376395543
MYBPC3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		C 0.700 CausalMutation CLINVAR Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene. 18957093

2008
dbSNP: rs376395543
rs376395543
MYBPC3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		C 0.700 CausalMutation CLINVAR Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. 15519027

2004
dbSNP: rs376395543
rs376395543
MYBPC3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		C 0.700 GeneticVariation CLINVAR