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 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: 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
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: 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: 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 Hypertrophic cardiomyopathy: from mutation to functional analysis of defective protein. 21674835

2011
dbSNP: rs36211715
rs36211715
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: rs36211715
rs36211715
MYH7
T 0.710 CausalMutation CLINVAR Detection of a large duplication mutation in the myosin-binding protein C3 gene in a case of hypertrophic cardiomyopathy. 23816408

2013
dbSNP: rs36211715
rs36211715
MYH7
T 0.710 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: rs36211715
rs36211715
MYH7
T 0.710 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs36211715
rs36211715
MYH7
T 0.710 CausalMutation CLINVAR Temporal repolarization lability in hypertrophic cardiomyopathy caused by beta-myosin heavy-chain gene mutations. 10725281

2000
dbSNP: rs371898076
rs371898076
MYH7
T 0.710 CausalMutation CLINVAR Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. 23233322

2013
dbSNP: rs371898076
rs371898076
MYH7
T 0.710 CausalMutation CLINVAR Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy. 22112859

2012