Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913641
rs121913641
MYH7
0.800 GeneticVariation UNIPROT Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy. 1417858

1992
dbSNP: rs121913641
rs121913641
MYH7
0.800 GeneticVariation UNIPROT 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: rs121913641
rs121913641
MYH7
T 0.800 CausalMutation CLINVAR A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy. 7848441

1994
dbSNP: rs121913641
rs121913641
MYH7
0.800 GeneticVariation UNIPROT Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy. 8268932

1993
dbSNP: rs121913641
rs121913641
MYH7
0.800 GeneticVariation UNIPROT Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. 8282798

1994
dbSNP: rs121913641
rs121913641
MYH7
0.800 GeneticVariation UNIPROT Identification of a novel missense mutation in the cardiac beta-myosin heavy chain gene in a Chinese patient with sporadic hypertrophic cardiomyopathy. 8899546

1996
dbSNP: rs121913641
rs121913641
MYH7
T 0.800 CausalMutation CLINVAR Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy. 9829907

1998
dbSNP: rs121913641
rs121913641
MYH7
0.800 GeneticVariation UNIPROT Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy. 9829907

1998
dbSNP: rs121913641
rs121913641
MYH7
0.800 GeneticVariation UNIPROT Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure. 10065021

1998
dbSNP: rs121913641
rs121913641
MYH7
0.800 GeneticVariation UNIPROT Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain. 10329202

1999
dbSNP: rs121913641
rs121913641
MYH7
T 0.800 CausalMutation CLINVAR The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events. 10521296

1999
dbSNP: rs121913641
rs121913641
MYH7
0.800 GeneticVariation UNIPROT Novel cardiac beta-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy. 10862102

2000
dbSNP: rs121913641
rs121913641
MYH7
0.800 GeneticVariation UNIPROT Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene. 11113006

2000
dbSNP: rs121913641
rs121913641
MYH7
0.800 GeneticVariation UNIPROT Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children. 11133230

2001
dbSNP: rs121913641
rs121913641
MYH7
T 0.800 CausalMutation CLINVAR A malignant phenotype of hypertrophic cardiomyopathy caused by Arg719Gln cardiac beta-myosin heavy-chain mutation in a Chinese family. 11498078

2001
dbSNP: rs121913641
rs121913641
MYH7
T 0.800 GeneticVariation CLINVAR A malignant phenotype of hypertrophic cardiomyopathy caused by Arg719Gln cardiac beta-myosin heavy-chain mutation in a Chinese family. 11498078

2001
dbSNP: rs121913641
rs121913641
MYH7
0.800 GeneticVariation UNIPROT The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation. 11733062

2001
dbSNP: rs121913641
rs121913641
MYH7
0.800 GeneticVariation UNIPROT Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations. 12566107

2003
dbSNP: rs121913641
rs121913641
MYH7
T 0.800 CausalMutation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003
dbSNP: rs121913641
rs121913641
MYH7
0.800 GeneticVariation UNIPROT Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003
dbSNP: rs121913641
rs121913641
MYH7
0.800 GeneticVariation UNIPROT Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. 12818575

2003
dbSNP: rs121913641
rs121913641
MYH7
0.800 GeneticVariation UNIPROT "Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy." 12951062

2003
dbSNP: rs121913641
rs121913641
MYH7
0.800 GeneticVariation UNIPROT Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739

2003
dbSNP: rs121913641
rs121913641
MYH7
0.800 GeneticVariation UNIPROT Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. 12975413

2003
dbSNP: rs121913641
rs121913641
MYH7
T 0.800 CausalMutation CLINVAR Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028

2004