Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913631
rs121913631
C 0.720 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs121913631
rs121913631
C 0.720 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
0.720 GeneticVariation BEFREE A deletion variant (p.L232-R238del) was present in 3 unrelated HCM probands, but it did not segregate with HCM in a family who also had a MYH7 mutation (p.L907V). 21642240

2011

dbSNP: rs121913631
rs121913631
C 0.720 CausalMutation CLINVAR Shared genetic causes of cardiac hypertrophy in children and adults. 18403758

2008

dbSNP: rs121913631
rs121913631
C 0.720 CausalMutation CLINVAR Molecular and phenotypic effects of heterozygous, homozygous, and compound heterozygote myosin heavy-chain mutations. 15528230

2005

dbSNP: rs121913631
rs121913631
C 0.720 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
C 0.720 CausalMutation CLINVAR Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028

2004

dbSNP: rs121913631
rs121913631
C 0.720 CausalMutation CLINVAR Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. 12975413

2003

dbSNP: rs121913631
rs121913631
C 0.720 CausalMutation CLINVAR Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as "benign defects," associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1). 12473556

2002

dbSNP: rs121913631
rs121913631
0.720 GeneticVariation BEFREE Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as "benign defects," associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1). 12473556

2002

dbSNP: rs121913631
rs121913631
C 0.720 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
C 0.720 CausalMutation CLINVAR Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy. 8514894

1993

dbSNP: rs121913631
rs121913631
C 0.720 CausalMutation CLINVAR Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. 8483915

1993

dbSNP: rs121913631
rs121913631
C 0.720 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
C 0.720 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