Gene: MYH7 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913632
rs121913632
MYH7
A 0.800 CausalMutation CLINVAR Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028

2004
dbSNP: rs121913632
rs121913632
MYH7
A 0.800 CausalMutation CLINVAR Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. 8483915

1993
dbSNP: rs121913632
rs121913632
MYH7
A 0.800 CausalMutation CLINVAR Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. 15856146

2005
dbSNP: rs121913632
rs121913632
MYH7
A 0.800 CausalMutation CLINVAR Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 15563892

2005
dbSNP: rs121913632
rs121913632
MYH7
A 0.800 CausalMutation CLINVAR Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy. 8533830

1995
dbSNP: rs121913632
rs121913632
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: rs121913637
rs121913637
MYH7
A 0.800 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
MYH7
A 0.800 CausalMutation CLINVAR ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. 18414213

2008
dbSNP: rs121913637
rs121913637
MYH7
A 0.800 CausalMutation CLINVAR The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population. 9822100

1998
dbSNP: rs121913637
rs121913637
MYH7
A 0.800 CausalMutation CLINVAR Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system. 27082122

2016
dbSNP: rs121913637
rs121913637
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: rs121913637
rs121913637
MYH7
A 0.800 CausalMutation CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685

2015
dbSNP: rs121913637
rs121913637
MYH7
A 0.800 CausalMutation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011
dbSNP: rs121913637
rs121913637
MYH7
A 0.800 CausalMutation CLINVAR Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge compliance. 19651039

2009
dbSNP: rs121913637
rs121913637
MYH7
A 0.800 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
MYH7
A 0.800 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
MYH7
A 0.800 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
MYH7
A 0.800 CausalMutation CLINVAR Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy. 20378854

2010
dbSNP: rs121913637
rs121913637
MYH7
A 0.800 CausalMutation CLINVAR Mutation of the myosin converter domain alters cross-bridge elasticity. 11904418

2002
dbSNP: rs121913637
rs121913637
MYH7
A 0.800 CausalMutation CLINVAR Genetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary phenotypes. 15000344

2004
dbSNP: rs121913637
rs121913637
MYH7
A 0.800 CausalMutation CLINVAR High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. 22429680

2012
dbSNP: rs121913637
rs121913637
MYH7
A 0.800 CausalMutation CLINVAR DNA testing in familial hypertrophic cardiomyopathy: clinical and laboratory implications. 9001794

1996
dbSNP: rs121913637
rs121913637
MYH7
A 0.800 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
MYH7
A 0.800 CausalMutation CLINVAR Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy. 21769673

2011
dbSNP: rs121913637
rs121913637
MYH7
A 0.800 CausalMutation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013