Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913631
rs121913631
MYH7
C 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs121913631
rs121913631
MYH7
C 0.700 CausalMutation CLINVAR Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy. 21642240

2011
dbSNP: rs121913631
rs121913631
MYH7
C 0.700 CausalMutation CLINVAR Shared genetic causes of cardiac hypertrophy in children and adults. 18403758

2008
dbSNP: rs121913631
rs121913631
MYH7
C 0.700 CausalMutation CLINVAR Molecular and phenotypic effects of heterozygous, homozygous, and compound heterozygote myosin heavy-chain mutations. 15528230

2005
dbSNP: rs121913631
rs121913631
MYH7
C 0.700 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: rs121913631
rs121913631
MYH7
C 0.700 CausalMutation CLINVAR Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028

2004
dbSNP: rs121913631
rs121913631
MYH7
C 0.700 CausalMutation CLINVAR Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. 12975413

2003
dbSNP: rs121913631
rs121913631
MYH7
C 0.700 CausalMutation CLINVAR "Prevalence and severity of ""benign"" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy." 12473556

2002
dbSNP: rs121913631
rs121913631
MYH7
C 0.700 CausalMutation CLINVAR Temporal repolarization lability in hypertrophic cardiomyopathy caused by beta-myosin heavy-chain gene mutations. 10725281

2000
dbSNP: rs121913631
rs121913631
MYH7
C 0.700 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: rs121913631
rs121913631
MYH7
C 0.700 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
dbSNP: rs121913631
rs121913631
MYH7
C 0.700 CausalMutation CLINVAR Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. 7731997

1995
dbSNP: rs121913631
rs121913631
MYH7
C 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations. 8281650

1994
dbSNP: rs121913631
rs121913631
MYH7
C 0.700 CausalMutation CLINVAR Identification of a mutation in the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy. 8435239

1993
dbSNP: rs121913631
rs121913631
MYH7
C 0.700 CausalMutation CLINVAR Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. 8483915

1993
dbSNP: rs121913631
rs121913631
MYH7
C 0.700 CausalMutation CLINVAR Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy. 8514894

1993
dbSNP: rs121913631
rs121913631
MYH7
C 0.700 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