Gene: MYH7 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517773
rs1057517773
MYH7
T 0.700 GeneticVariation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016
dbSNP: rs1057517773
rs1057517773
MYH7
T 0.700 GeneticVariation CLINVAR Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. 26656175

2016
dbSNP: rs1057517773
rs1057517773
MYH7
T 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs1060501443
rs1060501443
MYH7
G 0.700 CausalMutation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011
dbSNP: rs1060501443
rs1060501443
MYH7
G 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs1060501443
rs1060501443
MYH7
G 0.700 CausalMutation CLINVAR Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. 26899768

2016
dbSNP: rs1060501448
rs1060501448
MYH7
G 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs1060501448
rs1060501448
MYH7
G 0.700 GeneticVariation CLINVAR Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain. 25935763

2015
dbSNP: rs1060501448
rs1060501448
MYH7
G 0.700 GeneticVariation CLINVAR High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. 22429680

2012
dbSNP: rs1060501448
rs1060501448
MYH7
G 0.700 GeneticVariation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011
dbSNP: rs1060505018
rs1060505018
MYH7
A 0.700 CausalMutation CLINVAR

dbSNP: rs1131691685
rs1131691685
MYH7
A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs1131691685
rs1131691685
MYH7
A 0.700 CausalMutation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011
dbSNP: rs121913624
rs121913624
MYH7
T 0.710 CausalMutation CLINVAR Temporal repolarization lability in hypertrophic cardiomyopathy caused by beta-myosin heavy-chain gene mutations. 10725281

2000
dbSNP: rs121913624
rs121913624
MYH7
T 0.710 CausalMutation CLINVAR A transgenic rabbit model for human hypertrophic cardiomyopathy. 10606622

1999
dbSNP: rs121913624
rs121913624
MYH7
T 0.710 CausalMutation CLINVAR The R403Q myosin mutation implicated in familial hypertrophic cardiomyopathy causes disorder at the actomyosin interface. 17987111

2007
dbSNP: rs121913624
rs121913624
MYH7
T 0.710 CausalMutation CLINVAR Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation. 1638703

1992
dbSNP: rs121913624
rs121913624
MYH7
T 0.710 CausalMutation CLINVAR Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. 12975413

2003
dbSNP: rs121913624
rs121913624
MYH7
T 0.710 CausalMutation CLINVAR Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy. 9826622

1998
dbSNP: rs121913624
rs121913624
MYH7
T 0.710 CausalMutation CLINVAR The familial hypertrophic cardiomyopathy-associated myosin mutation R403Q accelerates tension generation and relaxation of human cardiac myofibrils. 18565996

2008
dbSNP: rs121913624
rs121913624
MYH7
T 0.710 CausalMutation CLINVAR Creatine kinase adenosine triphosphate and phosphocreatine energy supply in a single kindred of patients with hypertrophic cardiomyopathy. 23751935

2013
dbSNP: rs121913624
rs121913624
MYH7
T 0.710 CausalMutation CLINVAR R403Q and L908V mutant beta-cardiac myosin from patients with familial hypertrophic cardiomyopathy exhibit enhanced mechanical performance at the single molecule level. 11227787

2000
dbSNP: rs121913624
rs121913624
MYH7
T 0.710 CausalMutation CLINVAR A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. 1975517

1990
dbSNP: rs121913624
rs121913624
MYH7
T 0.710 CausalMutation CLINVAR A mouse model of familial hypertrophic cardiomyopathy. 8614836

1996
dbSNP: rs121913624
rs121913624
MYH7
T 0.710 CausalMutation CLINVAR The in vitro motility activity of beta-cardiac myosin depends on the nature of the beta-myosin heavy chain gene mutation in hypertrophic cardiomyopathy. 9172070

1997