Gene: MYH7 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011
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 Mutation of Arg723Gly in beta-myosin heavy chain gene in five Chinese families with hypertrophic cardiomyopathy. 17097032

2006
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 GeneticVariation CLINVAR Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. 1430197

1992
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 CausalMutation CLINVAR Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy. 9829907

1998
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 CausalMutation CLINVAR Familial hypertrophic cardiomyopathy: functional effects of myosin mutation R723G in cardiomyocytes. 23318932

2013
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 CausalMutation CLINVAR Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge compliance. 19651039

2009
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 Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. 1430197

1992
dbSNP: rs1060505018
rs1060505018
MYH7
A 0.700 CausalMutation CLINVAR

dbSNP: rs1131691685
rs1131691685
MYH7
A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs1131691685
rs1131691685
MYH7
A 0.700 CausalMutation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011
dbSNP: rs121913625
rs121913625
MYH7
A 0.700 CausalMutation CLINVAR Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children. 11133230

2001
dbSNP: rs121913625
rs121913625
MYH7
A 0.700 CausalMutation CLINVAR Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. 12975413

2003
dbSNP: rs121913625
rs121913625
MYH7
A 0.700 CausalMutation CLINVAR Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. 23349452

2013
dbSNP: rs121913625
rs121913625
MYH7
A 0.700 CausalMutation CLINVAR Molecular consequences of the R453C hypertrophic cardiomyopathy mutation on human β-cardiac myosin motor function. 23798412

2013
dbSNP: rs121913625
rs121913625
MYH7
A 0.700 CausalMutation CLINVAR Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028

2004
dbSNP: rs121913625
rs121913625
MYH7
A 0.700 CausalMutation CLINVAR The hypertrophic cardiomyopathy myosin mutation R453C alters ATP binding and hydrolysis of human cardiac β-myosin. 24344137

2014
dbSNP: rs121913625
rs121913625
MYH7
A 0.700 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: rs121913625
rs121913625
MYH7
A 0.700 CausalMutation CLINVAR Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. 1552912

1992
dbSNP: rs121913625
rs121913625
MYH7
A 0.700 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