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
0.800 GeneticVariation UNIPROT Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739

2003
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
0.800 GeneticVariation UNIPROT Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. 8282798

1994
dbSNP: rs121913624
rs121913624
MYH7
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014
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
0.800 GeneticVariation UNIPROT Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy. 9829907

1998
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
0.800 GeneticVariation UNIPROT 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
0.800 GeneticVariation UNIPROT Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain. 10329202

1999
dbSNP: rs121913624
rs121913624
MYH7
0.800 GeneticVariation UNIPROT The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation. 11733062

2001
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
0.800 GeneticVariation UNIPROT Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. 12975413

2003