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
A 0.800 CausalMutation CLINVAR

dbSNP: rs121913625
rs121913625
MYH7
A 0.800 CausalMutation CLINVAR Hypertrophic cardiomyopathy: low frequency of mutations in the beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients. 12881443

2003
dbSNP: rs121913625
rs121913625
MYH7
A 0.800 GeneticVariation CLINVAR Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure. 8655135

1996
dbSNP: rs121913625
rs121913625
MYH7
A 0.800 CausalMutation CLINVAR Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease. 1975599

1990
dbSNP: rs121913625
rs121913625
MYH7
A 0.800 GeneticVariation CLINVAR Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. 15856146

2005
dbSNP: rs121913625
rs121913625
MYH7
A 0.800 CausalMutation CLINVAR Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children. 11133230

2001
dbSNP: rs121913625
rs121913625
MYH7
A 0.800 CausalMutation CLINVAR Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations of the beta-myosin heavy chain gene. 8335820

1993
dbSNP: rs121913625
rs121913625
MYH7
A 0.800 GeneticVariation CLINVAR Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations of the beta-myosin heavy chain gene. 8335820

1993
dbSNP: rs121913625
rs121913625
MYH7
A 0.800 CausalMutation CLINVAR Molecular consequences of the R453C hypertrophic cardiomyopathy mutation on human β-cardiac myosin motor function. 23798412

2013
dbSNP: rs121913625
rs121913625
MYH7
A 0.800 CausalMutation CLINVAR β-Myosin heavy chain variant Val606Met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates HCM phenotypes in mice carrying other HCM mutations. 24829265

2014
dbSNP: rs121913625
rs121913625
MYH7
A 0.800 CausalMutation CLINVAR Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. 15856146

2005
dbSNP: rs121913625
rs121913625
MYH7
A 0.800 CausalMutation CLINVAR Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations. 18175163

2008
dbSNP: rs121913625
rs121913625
MYH7
A 0.800 CausalMutation CLINVAR First description of germline mosaicism in familial hypertrophic cardiomyopathy. 10662815

2000
dbSNP: rs121913625
rs121913625
MYH7
A 0.800 CausalMutation CLINVAR Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure. 8655135

1996
dbSNP: rs121913625
rs121913625
MYH7
A 0.800 GeneticVariation CLINVAR Molecular consequences of the R453C hypertrophic cardiomyopathy mutation on human β-cardiac myosin motor function. 23798412

2013
dbSNP: rs121913625
rs121913625
MYH7
A 0.800 CausalMutation CLINVAR Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy. 8250038

1993
dbSNP: rs121913625
rs121913625
MYH7
A 0.800 CausalMutation CLINVAR Progress in familial hypertrophic cardiomyopathy: molecular genetic analyses in the original family studied by Teare. 1739523

1992
dbSNP: rs121913630
rs121913630
MYH7
A 0.800 CausalMutation CLINVAR Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. 20359594

2010
dbSNP: rs121913630
rs121913630
MYH7
A 0.800 CausalMutation CLINVAR Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 16199542

2005
dbSNP: rs121913630
rs121913630
MYH7
A 0.800 CausalMutation CLINVAR Relation between QT duration and maximal wall thickness in familial hypertrophic cardiomyopathy. 12117842

2002
dbSNP: rs121913630
rs121913630
MYH7
A 0.800 CausalMutation CLINVAR Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. 1430197

1992
dbSNP: rs121913630
rs121913630
MYH7
A 0.800 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 0.800 CausalMutation CLINVAR Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. 7731997

1995
dbSNP: rs121913630
rs121913630
MYH7
A 0.800 CausalMutation CLINVAR Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy. 9829907

1998
dbSNP: rs121913632
rs121913632
MYH7
A 0.800 CausalMutation CLINVAR Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. 24093860

2013