Gene: MYH7 ×
Source: CLINVAR ×
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 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 Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy. 9826622

1998
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 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 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 0.710 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 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 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 A transgenic rabbit model for human hypertrophic cardiomyopathy. 10606622

1999
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 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 Functional consequences of mutations in the smooth muscle myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy. 10882745

2000
dbSNP: rs3218713
rs3218713
MYH7
T 0.710 CausalMutation CLINVAR Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure. 10065021

1998
dbSNP: rs3218713
rs3218713
MYH7
T 0.710 CausalMutation CLINVAR A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction. 24691700

2015
dbSNP: rs3218713
rs3218713
MYH7
T 0.710 CausalMutation CLINVAR Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy. 9826622

1998
dbSNP: rs3218713
rs3218713
MYH7
T 0.710 CausalMutation CLINVAR Clinical and prognostic evaluation of familial hypertrophic cardiomyopathy in two South African families with different cardiac beta myosin heavy chain gene mutations. 7662452

1995
dbSNP: rs3218713
rs3218713
MYH7
T 0.710 CausalMutation CLINVAR Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes. 1944483

1991
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: rs36211715
rs36211715
MYH7
T 0.710 CausalMutation CLINVAR High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. 22429680

2012
dbSNP: rs36211715
rs36211715
MYH7
T 0.710 CausalMutation CLINVAR Genetics of hypertrophic cardiomyopathy in Norway. 24111713

2014
dbSNP: rs36211715
rs36211715
MYH7
T 0.710 CausalMutation CLINVAR A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy. 7796500

1995
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: 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