Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913647
rs121913647
MYH7 ; MHRT
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		G 0.800 CausalMutation CLINVAR

dbSNP: rs121913647
rs121913647
MYH7 ; MHRT
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		G 0.700 CausalMutation CLINVAR Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy. 24119082

2013
dbSNP: rs121913647
rs121913647
MYH7 ; MHRT
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		G 0.700 CausalMutation CLINVAR Effects of pathogenic proline mutations on myosin assembly. 22155079

2012
dbSNP: rs121913647
rs121913647
MYH7 ; MHRT
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		G 0.700 CausalMutation CLINVAR Mutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes. 19854198

2010
dbSNP: rs121913647
rs121913647
MYH7 ; MHRT
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		G 0.700 CausalMutation CLINVAR Cardiac magnetic resonance imaging of myocardial contrast uptake and blood flow in patients affected with idiopathic or familial dilated cardiomyopathy. 18660445

2008
dbSNP: rs121913647
rs121913647
MYH7 ; MHRT
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		G 0.700 CausalMutation CLINVAR Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. 19412328

2008
dbSNP: rs121913647
rs121913647
MYH7 ; MHRT
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		G 0.700 CausalMutation CLINVAR Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). 15322983

2004
dbSNP: rs121913647
rs121913647
MYH7 ; MHRT
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		G 0.700 CausalMutation CLINVAR Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy. 15556047

2004
dbSNP: rs121913647
rs121913647
MYH7 ; MHRT
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR