Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913627
rs121913627
T 0.730 CausalMutation CLINVAR Mutations in the beta-myosin heavy chain gene in southern Chinese families with hypertrophic cardiomyopathy. 20819418

2010

dbSNP: rs121913627
rs121913627
0.730 GeneticVariation BEFREE The results showed that: Val606Met is an intermediate malignancy mutation; Arg694Leu is a novel mutation with a benign phenotype; and the Arg723Gly mutation is linked to malignancy - it can lead not only to HCM but also to dilated cardiomyopathy at various ages. 20819418

2010

dbSNP: rs121913627
rs121913627
T 0.730 CausalMutation CLINVAR The molecular phenotype of human cardiac myosin associated with hypertrophic obstructive cardiomyopathy. 18411228

2008

dbSNP: rs121913627
rs121913627
T 0.730 CausalMutation CLINVAR Here, we describe a unique combination of hypertrophic cardiomyopathy and hypertrophic distal myopathy in a family with a MYH7 Val606Met mutation (exon 16). 17383184

2007

dbSNP: rs121913627
rs121913627
0.730 GeneticVariation BEFREE Here, we describe a unique combination of hypertrophic cardiomyopathy and hypertrophic distal myopathy in a family with a MYH7 Val606Met mutation (exon 16). 17383184

2007

dbSNP: rs121913627
rs121913627
T 0.730 CausalMutation CLINVAR Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 16199542

2005

dbSNP: rs121913627
rs121913627
T 0.730 CausalMutation CLINVAR Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations. 12566107

2003

dbSNP: rs121913627
rs121913627
T 0.730 CausalMutation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003

dbSNP: rs121913627
rs121913627
0.730 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: rs121913627
rs121913627
T 0.730 CausalMutation CLINVAR Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy. 11424919

2001

dbSNP: rs121913627
rs121913627
T 0.730 CausalMutation CLINVAR Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children. 11133230

2001

dbSNP: rs121913627
rs121913627
T 0.730 CausalMutation CLINVAR The Val606Met mutation in the cardiac beta-myosin heavy chain gene in patients with familial hypertrophic cardiomyopathy is associated with a high risk of sudden death at young age. 11377367

2001

dbSNP: rs121913627
rs121913627
T 0.730 CausalMutation CLINVAR Hypertrophic cardiomyopathy: evaluation and treatment of patients at high risk for sudden death. 9058851

1997

dbSNP: rs121913627
rs121913627
T 0.730 CausalMutation CLINVAR Sudden cardiac death in hypertrophic cardiomyopathy. Variability in phenotypic expression of beta-myosin heavy chain mutations. 7789380

1995

dbSNP: rs121913627
rs121913627
T 0.730 CausalMutation CLINVAR A missense mutation in the beta-myosin heavy chain gene in a Japanese patient with hypertrophic cardiomyopathy. 8788376

1995

dbSNP: rs121913627
rs121913627
T 0.730 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: rs121913627
rs121913627
T 0.730 CausalMutation CLINVAR Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations of the beta-myosin heavy chain gene. 8335820

1993

dbSNP: rs121913627
rs121913627
T 0.730 CausalMutation CLINVAR Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. 1552912

1992