Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913637
rs121913637
A 0.720 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: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes. 9544842

1998

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy. 24888384

2014

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR A novel mutation of the beta myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy. 19645038

2009

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. 29300372

2018

dbSNP: rs121913637
rs121913637
0.720 GeneticVariation BEFREE All children (aged 1.5-16.7 years) from 14 HCM families with identified disease-causing mutations (the Arg719Trp mutation in the beta-myosin heavy chain gene [MYH7], the Asp175Asn mutation in the alpha-tropomyosin gene [TPM1], the Gln1061X mutation in the myosin-binding protein C gene [MYBPC3], and the IVS5-2A-->C mutation in the MYBPC3 gene) and 53 matched control children were examined with electrocardiography and 2- and 3-dimensional echocardiography (2DE and 3DE). 16504640

2006

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Apical hypertrophic cardiomyopathy due to a de novo mutation Arg719Trp of the beta-myosin heavy chain gene and cardiac arrest in childhood. A case report and family study. 10957787

2000

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge compliance. 19651039

2009

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Clinical genetics and outcome of left ventricular non-compaction cardiomyopathy. 29029073

2017

dbSNP: rs121913637
rs121913637
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: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Detection of a large duplication mutation in the myosin-binding protein C3 gene in a case of hypertrophic cardiomyopathy. 23816408

2013

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Diastolic dysfunction without left ventricular hypertrophy is an early finding in children with hypertrophic cardiomyopathy-causing mutations in the beta-myosin heavy chain, alpha-tropomyosin, and myosin-binding protein C genes. 16504640

2006

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR DNA testing in familial hypertrophic cardiomyopathy: clinical and laboratory implications. 9001794

1996

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Functional consequences of mutations in the smooth muscle myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy. 10882745

2000

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations. 28296734

2017

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy. 29907873

2018

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Genetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary phenotypes. 15000344

2004

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy. 9829907

1998

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. 22429680

2012

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Isolation of a de novo mutant myocardial beta MHC protein in a pedigree with hypertrophic cardiomyopathy. 7874131

1994

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Mutation of the myosin converter domain alters cross-bridge elasticity. 11904418

2002

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739

2003

dbSNP: rs121913637
rs121913637
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