Gene: MYH7 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913624
rs121913624
MYH7
T 0.710 CausalMutation CLINVAR Temporal repolarization lability in hypertrophic cardiomyopathy caused by beta-myosin heavy-chain gene mutations. 10725281

2000
dbSNP: rs121913624
rs121913624
MYH7
T 0.710 CausalMutation CLINVAR A transgenic rabbit model for human hypertrophic cardiomyopathy. 10606622

1999
dbSNP: rs121913624
rs121913624
MYH7
T 0.710 CausalMutation CLINVAR The R403Q myosin mutation implicated in familial hypertrophic cardiomyopathy causes disorder at the actomyosin interface. 17987111

2007
dbSNP: rs121913624
rs121913624
MYH7
T 0.710 CausalMutation CLINVAR Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation. 1638703

1992
dbSNP: rs121913624
rs121913624
MYH7
T 0.710 CausalMutation CLINVAR Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. 12975413

2003
dbSNP: rs121913624
rs121913624
MYH7
T 0.710 CausalMutation CLINVAR Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy. 9826622

1998
dbSNP: rs121913624
rs121913624
MYH7
T 0.710 CausalMutation CLINVAR The familial hypertrophic cardiomyopathy-associated myosin mutation R403Q accelerates tension generation and relaxation of human cardiac myofibrils. 18565996

2008
dbSNP: rs121913624
rs121913624
MYH7
T 0.710 CausalMutation CLINVAR Creatine kinase adenosine triphosphate and phosphocreatine energy supply in a single kindred of patients with hypertrophic cardiomyopathy. 23751935

2013
dbSNP: rs121913624
rs121913624
MYH7
T 0.710 CausalMutation CLINVAR R403Q and L908V mutant beta-cardiac myosin from patients with familial hypertrophic cardiomyopathy exhibit enhanced mechanical performance at the single molecule level. 11227787

2000
dbSNP: rs121913624
rs121913624
MYH7
T 0.710 CausalMutation CLINVAR A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. 1975517

1990
dbSNP: rs121913624
rs121913624
MYH7
T 0.710 CausalMutation CLINVAR A mouse model of familial hypertrophic cardiomyopathy. 8614836

1996
dbSNP: rs121913624
rs121913624
MYH7
T 0.710 CausalMutation CLINVAR The in vitro motility activity of beta-cardiac myosin depends on the nature of the beta-myosin heavy chain gene mutation in hypertrophic cardiomyopathy. 9172070

1997
dbSNP: rs121913624
rs121913624
MYH7
0.710 GeneticVariation BEFREE In 1990, the Seidmans showed that a single point mutation, R403Q, in the human β-myosin heavy chain (MHC) of heart muscle caused a particularly malignant form of familial hypertrophic cardiomyopathy (HCM) [Geisterfer-Lowrance AA, et al.(1990) Cell 62:999-1006.]. 30322937

2018
dbSNP: rs121913624
rs121913624
MYH7
T 0.710 CausalMutation CLINVAR Functional consequences of mutations in the smooth muscle myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy. 10882745

2000
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 CausalMutation CLINVAR Relation between QT duration and maximal wall thickness in familial hypertrophic cardiomyopathy. 12117842

2002
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 GeneticVariation CLINVAR Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. 20359594

2010
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 CausalMutation CLINVAR Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 16199542

2005
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 CausalMutation CLINVAR Mutation of Arg723Gly in beta-myosin heavy chain gene in five Chinese families with hypertrophic cardiomyopathy. 17097032

2006
dbSNP: rs121913630
rs121913630
MYH7
C 0.710 CausalMutation CLINVAR

dbSNP: rs121913630
rs121913630
MYH7
A 0.710 CausalMutation CLINVAR Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain. 25935763

2015
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 GeneticVariation CLINVAR Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. 1430197

1992
dbSNP: rs121913630
rs121913630
MYH7
0.710 GeneticVariation BEFREE The finding of HCM-specific pathology in neonatal R723G-piglets suggests a very early onset of the disease and highlights the importance of novel large animal models for studying causative mechanisms and long-term progression of human cardiac diseases. 29555974

2018
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 CausalMutation CLINVAR Mutations in the beta-myosin heavy chain gene in southern Chinese families with hypertrophic cardiomyopathy. 20819418

2010
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 CausalMutation CLINVAR Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene. 11113006

2000
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 CausalMutation CLINVAR Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. 1430197

1992