Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 GeneticVariation 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: rs397516127
rs397516127
MYH7
A 0.700 GeneticVariation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337

2014
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 GeneticVariation CLINVAR A systematic approach to the reporting of medically relevant findings from whole genome sequencing. 25714468

2014
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 GeneticVariation CLINVAR Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics. 23785128

2013
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 GeneticVariation CLINVAR Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy. 23674513

2013
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 GeneticVariation CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745

2013
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 GeneticVariation CLINVAR Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells. 23290139

2013
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 GeneticVariation CLINVAR Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. 23233322

2013
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 GeneticVariation CLINVAR A novel cardiac myosin-binding protein C S297X mutation in hypertrophic cardiomyopathy. 20350521

2010
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 GeneticVariation CLINVAR Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. 18533079

2008
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 GeneticVariation CLINVAR Worse prognosis with gene mutations of beta-myosin heavy chain than myosin-binding protein C in Chinese patients with hypertrophic cardiomyopathy. 18383048

2008
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 GeneticVariation CLINVAR Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 15563892

2005
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 GeneticVariation CLINVAR Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease. 15858117

2005
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 GeneticVariation CLINVAR Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028

2004
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 GeneticVariation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 GeneticVariation CLINVAR Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation. 10750581

1999