Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913625
rs121913625
0.720 GeneticVariation BEFREE CRISPR/Cas9 editing produced 11 variants of the HCM-causing mutation c.C9123T-MYH7 [(p.R453C-β-myosin heavy chain (MHC)] in 3 independent hPSC lines. 29741611

2018

dbSNP: rs121913625
rs121913625
A 0.720 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs121913625
rs121913625
A 0.720 CausalMutation CLINVAR The hypertrophic cardiomyopathy myosin mutation R453C alters ATP binding and hydrolysis of human cardiac β-myosin. 24344137

2014

dbSNP: rs121913625
rs121913625
A 0.720 CausalMutation CLINVAR Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. 23349452

2013

dbSNP: rs121913625
rs121913625
A 0.720 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
A 0.720 CausalMutation CLINVAR Molecular consequences of the R453C hypertrophic cardiomyopathy mutation on human β-cardiac myosin motor function. 23798412

2013

dbSNP: rs121913625
rs121913625
A 0.720 CausalMutation CLINVAR Conduction abnormalities in pediatric patients with restrictive cardiomyopathy. 22260945

2012

dbSNP: rs121913625
rs121913625
A 0.720 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

dbSNP: rs121913625
rs121913625
A 0.720 CausalMutation CLINVAR Mutation of the MYH7 gene in a child with hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome. 17495353

2007

dbSNP: rs121913625
rs121913625
A 0.720 CausalMutation CLINVAR Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype. 17599605

2007

dbSNP: rs121913625
rs121913625
A 0.720 CausalMutation CLINVAR Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: a pilot study using DGGE. 16715312

2006

dbSNP: rs121913625
rs121913625
A 0.720 CausalMutation CLINVAR Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. 15856146

2005

dbSNP: rs121913625
rs121913625
A 0.720 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: rs121913625
rs121913625
A 0.720 CausalMutation CLINVAR Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028

2004

dbSNP: rs121913625
rs121913625
A 0.720 CausalMutation CLINVAR Differential cross-bridge kinetics of FHC myosin mutations R403Q and R453C in heterozygous mouse myocardium. 15001446

2004

dbSNP: rs121913625
rs121913625
A 0.720 CausalMutation CLINVAR Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. 12975413

2003

dbSNP: rs121913625
rs121913625
A 0.720 CausalMutation CLINVAR MYH7 R453C was present in a woman with mild HC, mother of a son who died from SCD. 12881443

2003

dbSNP: rs121913625
rs121913625
A 0.720 CausalMutation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003

dbSNP: rs121913625
rs121913625
A 0.720 CausalMutation CLINVAR "Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy." 12951062

2003

dbSNP: rs121913625
rs121913625
0.720 GeneticVariation BEFREE MYH7 R453C was present in a woman with mild HC, mother of a son who died from SCD. 12881443

2003

dbSNP: rs121913625
rs121913625
A 0.720 CausalMutation CLINVAR Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective. 12084606

2002

dbSNP: rs121913625
rs121913625
A 0.720 CausalMutation CLINVAR Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children. 11133230

2001

dbSNP: rs121913625
rs121913625
A 0.720 CausalMutation CLINVAR First description of germline mosaicism in familial hypertrophic cardiomyopathy. 10662815

2000

dbSNP: rs121913625
rs121913625
A 0.720 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
A 0.720 CausalMutation CLINVAR Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. 7731997

1995