Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs573916965
rs573916965
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.800 CausalMutation CLINVAR Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes. 25856671

2015
dbSNP: rs573916965
rs573916965
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.800 CausalMutation CLINVAR Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing. 26090888

2015
dbSNP: rs573916965
rs573916965
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.800 CausalMutation CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745

2013
dbSNP: rs573916965
rs573916965
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.800 CausalMutation CLINVAR Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy. 23711808

2013
dbSNP: rs573916965
rs573916965
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.800 CausalMutation CLINVAR Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy. 21511876

2011
dbSNP: rs573916965
rs573916965
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.800 CausalMutation CLINVAR Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. 20045868

2010
dbSNP: rs573916965
rs573916965
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.800 CausalMutation CLINVAR Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. 18533079

2008
dbSNP: rs573916965
rs573916965
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.800 CausalMutation CLINVAR 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: rs573916965
rs573916965
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.800 CausalMutation CLINVAR Mutations in the genes for sarcomeric proteins in Japanese patients with onset sporadic hypertrophic cardiomyopathy after age 40 years. 17560888

2007
dbSNP: rs573916965
rs573916965
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		A 0.800 CausalMutation CLINVAR