Gene: MYH7 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516153
rs397516153
MYH7
A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs727503260
rs727503260
MYH7
T 0.700 CausalMutation CLINVAR Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain. 25935763

2015
dbSNP: rs727503260
rs727503260
MYH7
T 0.700 CausalMutation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337

2014
dbSNP: rs727503260
rs727503260
MYH7
T 0.700 CausalMutation CLINVAR Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy. 23690394

2013
dbSNP: rs727503260
rs727503260
MYH7
T 0.700 CausalMutation CLINVAR T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy. 23549607

2013
dbSNP: rs727503260
rs727503260
MYH7
T 0.700 CausalMutation CLINVAR Conduction abnormalities in pediatric patients with restrictive cardiomyopathy. 22260945

2012
dbSNP: rs727503244
rs727503244
MYH7 ; MIR208B ; MHRT
G 0.700 GeneticVariation CLINVAR Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy. 20818890

2010
dbSNP: rs727503260
rs727503260
MYH7
T 0.700 CausalMutation CLINVAR A fetus with hypertrophic cardiomyopathy, restrictive, and single-ventricle physiology, and a beta-myosin heavy chain mutation. 20394946

2010
dbSNP: rs727503260
rs727503260
MYH7
T 0.700 CausalMutation CLINVAR Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy. 20800588

2010
dbSNP: rs397516153
rs397516153
MYH7
A 0.700 CausalMutation CLINVAR A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy. 18380764

2008
dbSNP: rs727503260
rs727503260
MYH7
T 0.700 CausalMutation CLINVAR Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain. 18076673

2008
dbSNP: rs727503260
rs727503260
MYH7
T 0.700 CausalMutation CLINVAR [Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy]. 17125710

2006
dbSNP: rs727503260
rs727503260
MYH7
T 0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003
dbSNP: rs727503269
rs727503269
MYH7
C 0.700 CausalMutation CLINVAR