Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
0.720 GeneticVariation BEFREE The novel double mutation of Ala26Val plus Arg719Trp in MYH7 identified in a Chinese family highlights the remarkable genetic heterogeneity of HCM, which provides important information for genetic counseling, accurate diagnosis, prognostic evaluation, and appropriate clinical management. 19645038

2009

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 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 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 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 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 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 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 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 Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy. 20378854

2010

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 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 Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy. 21769673

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 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 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 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 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. 8282798

1994

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 Clinical genetics and outcome of left ventricular non-compaction cardiomyopathy. 29029073

2017

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Prognostic significance of beta-myosin heavy chain mutations is reflective of their hypertrophic expressivity in patients with hypertrophic cardiomyopathy. 9154300

1997

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