rs3218716, MYH7

N. diseases: 17
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338 2014
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation CLINVAR Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. 23233322 2013
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation UNIPROT Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). 21267010 2011
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation CLINVAR Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy. 18029407 2008
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation CLINVAR [Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy]. 17125710 2006
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation UNIPROT Gene mutations in apical hypertrophic cardiomyopathy. 16267253 2005
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation UNIPROT Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028 2004
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation CLINVAR Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028 2004
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation UNIPROT Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739 2003
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
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
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation UNIPROT Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. 12975413 2003
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation UNIPROT Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. 12818575 2003
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation UNIPROT Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations. 12566107 2003
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation UNIPROT Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239 2003
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation UNIPROT Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children. 11133230 2001
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation UNIPROT The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation. 11733062 2001
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation UNIPROT Novel cardiac beta-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy. 10862102 2000
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation CLINVAR Expression of HCM causing mutations: lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation. 11186938 2000
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation UNIPROT Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene. 11113006 2000
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation CLINVAR The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events. 10521296 1999
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
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
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
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