Gene: MYH7 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913642
rs121913642
MYH7
G 0.700 CausalMutation CLINVAR Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy. 22949430

2012
dbSNP: rs397516089
rs397516089
MYH7
T 0.700 CausalMutation CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770

2012
dbSNP: rs397516254
rs397516254
MYH7 ; MHRT
T 0.700 CausalMutation CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770

2012
dbSNP: rs45544633
rs45544633
MYH7 ; MHRT
A 0.700 GeneticVariation CLINVAR Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era. 22337857

2012
dbSNP: rs45544633
rs45544633
MYH7 ; MHRT
A 0.700 GeneticVariation CLINVAR A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs. 23153285

2012
dbSNP: rs45544633
rs45544633
MYH7 ; MHRT
A 0.700 GeneticVariation CLINVAR Effects of pathogenic proline mutations on myosin assembly. 22155079

2012
dbSNP: rs606231324
rs606231324
MYH7
T 0.700 CausalMutation CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770

2012
dbSNP: rs727503254
rs727503254
MYH7
A 0.700 GeneticVariation CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770

2012
dbSNP: rs397516142
rs397516142
MYH7
G 0.700 GeneticVariation CLINVAR Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy. 21211974

2011
dbSNP: rs397516165
rs397516165
MYH7
T 0.700 GeneticVariation CLINVAR Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure. 21750094

2011
dbSNP: rs397516165
rs397516165
MYH7
T 0.700 GeneticVariation CLINVAR Electrocardiographic features of sarcomere mutation carriers with and without clinically overt hypertrophic cardiomyopathy. 21943931

2011
dbSNP: rs727503253
rs727503253
MYH7
A 0.700 CausalMutation CLINVAR Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure. 21750094

2011
dbSNP: rs727503253
rs727503253
MYH7
A 0.700 CausalMutation CLINVAR Haplotype sharing test maps genes for familial cardiomyopathies. 20573160

2011
dbSNP: rs727503258
rs727503258
MYH7
C 0.700 GeneticVariation CLINVAR Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy. 21211974

2011
dbSNP: rs45544633
rs45544633
MYH7 ; MHRT
A 0.700 GeneticVariation CLINVAR Mutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes. 19854198

2010
dbSNP: rs397516089
rs397516089
MYH7
T 0.700 CausalMutation CLINVAR Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation. 20031619

2009
dbSNP: rs397516248
rs397516248
MYH7 ; MHRT
T 0.700 GeneticVariation CLINVAR 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands. 19477645

2009
dbSNP: rs397516248
rs397516248
MYH7 ; MHRT
T 0.700 CausalMutation CLINVAR 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands. 19477645

2009
dbSNP: rs45516091
rs45516091
MYH7
A 0.700 CausalMutation CLINVAR Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. 19412328

2008
dbSNP: rs45544633
rs45544633
MYH7 ; MHRT
A 0.700 GeneticVariation CLINVAR Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. 19412328

2008
dbSNP: rs45544633
rs45544633
MYH7 ; MHRT
A 0.700 GeneticVariation CLINVAR Cardiac magnetic resonance imaging of myocardial contrast uptake and blood flow in patients affected with idiopathic or familial dilated cardiomyopathy. 18660445

2008
dbSNP: rs121913642
rs121913642
MYH7
G 0.700 CausalMutation CLINVAR Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay. 17351073

2007
dbSNP: rs121913642
rs121913642
MYH7
G 0.700 CausalMutation CLINVAR Cardiac myosin missense mutations cause dilated cardiomyopathy in mouse models and depress molecular motor function. 16983074

2006
dbSNP: rs397516258
rs397516258
MYH7
G 0.700 GeneticVariation CLINVAR Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. 15769782

2005
dbSNP: rs45544633
rs45544633
MYH7 ; MHRT
A 0.700 GeneticVariation CLINVAR Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy. 15556047

2004