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 0.800 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 0.800 CausalMutation CLINVAR Temporal repolarization lability in hypertrophic cardiomyopathy caused by beta-myosin heavy-chain gene mutations. 10725281

2000
dbSNP: rs121913624
rs121913624
MYH7
T 0.800 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 0.800 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 0.800 CausalMutation CLINVAR Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy. 9826622

1998
dbSNP: rs121913624
rs121913624
MYH7
T 0.800 CausalMutation CLINVAR Mice expressing mutant myosin heavy chains are a model for familial hypertrophic cardiomyopathy. 8898372

1996
dbSNP: rs121913624
rs121913624
MYH7
T 0.800 CausalMutation CLINVAR The pathogenesis of familial hypertrophic cardiomyopathy: early and evolving effects from an alpha-cardiac myosin heavy chain missense mutation. 10086390

1999
dbSNP: rs121913624
rs121913624
MYH7
T 0.800 CausalMutation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016
dbSNP: rs121913624
rs121913624
MYH7
T 0.800 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
T 0.800 CausalMutation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003
dbSNP: rs121913624
rs121913624
MYH7
T 0.800 CausalMutation CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685

2015
dbSNP: rs121913624
rs121913624
MYH7
T 0.800 CausalMutation CLINVAR Diastolic dysfunction and altered energetics in the alphaMHC403/+ mouse model of familial hypertrophic cardiomyopathy. 9541509

1998
dbSNP: rs121913624
rs121913624
MYH7
T 0.800 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs121913624
rs121913624
MYH7
T 0.800 CausalMutation CLINVAR Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay. 17351073

2007
dbSNP: rs121913624
rs121913624
MYH7
A 0.800 CausalMutation CLINVAR

dbSNP: rs121913624
rs121913624
MYH7
T 0.800 CausalMutation CLINVAR Hereditary cardiovascular dysplasia. A form of familial cardiomyopathy. 13732753

1961
dbSNP: rs121913624
rs121913624
MYH7
T 0.800 CausalMutation CLINVAR Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. 20031618

2009
dbSNP: rs121913624
rs121913624
MYH7
T 0.800 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 0.800 CausalMutation CLINVAR Accumulation and assembly of myosin in hypertrophic cardiomyopathy with the 403 Arg to Gln beta-myosin heavy chain mutation. 1423936

1992
dbSNP: rs121913624
rs121913624
MYH7
T 0.800 CausalMutation CLINVAR Identification of an Arg403Gln beta myosin heavy chain gene mutation in a Portuguese family with hypertrophic cardiomyopathy. 10874840

2000
dbSNP: rs121913624
rs121913624
MYH7
T 0.800 CausalMutation CLINVAR Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective. 12084606

2002
dbSNP: rs121913624
rs121913624
MYH7
T 0.800 CausalMutation CLINVAR Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028

2004
dbSNP: rs121913624
rs121913624
MYH7
T 0.800 CausalMutation CLINVAR Hypertrophic cardiomyopathy associated with left ventricular noncompaction cardiomyopathy and coronary fistulae: a case report. One genotype, three phenotypes? 24268868

2013
dbSNP: rs121913624
rs121913624
MYH7
T 0.800 CausalMutation CLINVAR Molecular genetics of familial hypertrophic cardiomyopathy (FHC). 12601548

2003
dbSNP: rs121913624
rs121913624
MYH7
T 0.800 CausalMutation CLINVAR The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation. 9140839

1997