Gene: MYH7 ×
Source: ALL
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 Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge compliance. 19651039

2009
dbSNP: rs36211715
rs36211715
MYH7
T 0.710 CausalMutation CLINVAR Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. 20031618

2009
dbSNP: rs36211715
rs36211715
MYH7
T 0.710 CausalMutation CLINVAR [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. 19150014

2009
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: rs371898076
rs371898076
MYH7
T 0.710 CausalMutation CLINVAR Worse prognosis with gene mutations of beta-myosin heavy chain than myosin-binding protein C in Chinese patients with hypertrophic cardiomyopathy. 18383048

2008
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: rs36211715
rs36211715
MYH7
T 0.710 CausalMutation CLINVAR Dissecting the N-terminal myosin binding site of human cardiac myosin-binding protein C. Structure and myosin binding of domain C2. 17192269

2007
dbSNP: rs36211715
rs36211715
MYH7
0.710 GeneticVariation BEFREE The p.R870H mutation has been identified as the cause of familial hypertrophic cardiomyopathy in an Indian family. 17703256

2007
dbSNP: rs36211715
rs36211715
MYH7
T 0.710 CausalMutation CLINVAR The p.R870H mutation has been identified as the cause of familial hypertrophic cardiomyopathy in an Indian family. 17703256

2007
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: rs36211715
rs36211715
MYH7
T 0.710 CausalMutation CLINVAR [Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy]. 17125710

2006
dbSNP: rs36211715
rs36211715
MYH7
T 0.710 CausalMutation CLINVAR Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy. 16650083

2006
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: rs371898076
rs371898076
MYH7
T 0.710 CausalMutation CLINVAR Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 16199542

2005
dbSNP: rs371898076
rs371898076
MYH7
T 0.710 CausalMutation CLINVAR Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease. 15858117

2005
dbSNP: rs371898076
rs371898076
MYH7
T 0.710 CausalMutation CLINVAR Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 15563892

2005
dbSNP: rs371898076
rs371898076
MYH7
T 0.710 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 0.710 CausalMutation CLINVAR Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. 12975413

2003
dbSNP: rs36211715
rs36211715
MYH7
T 0.710 CausalMutation CLINVAR Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739

2003
dbSNP: rs371898076
rs371898076
MYH7
T 0.710 CausalMutation CLINVAR Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations. 12820698

2003
dbSNP: rs371898076
rs371898076
MYH7
T 0.710 CausalMutation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 CausalMutation CLINVAR Relation between QT duration and maximal wall thickness in familial hypertrophic cardiomyopathy. 12117842

2002
dbSNP: rs371898076
rs371898076
MYH7
T 0.710 CausalMutation CLINVAR Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children. 11133230

2001
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 R403Q and L908V mutant beta-cardiac myosin from patients with familial hypertrophic cardiomyopathy exhibit enhanced mechanical performance at the single molecule level. 11227787

2000