Gene: MYH7 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516248
rs397516248
MYH7 ; MHRT
T 0.700 CausalMutation CLINVAR Myosinopathies: pathology and mechanisms. 22918376

2013
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: rs397516248
rs397516248
MYH7 ; MHRT
T 0.700 CausalMutation CLINVAR Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. 24664454

2014
dbSNP: rs397516252
rs397516252
MYH7 ; MHRT
C 0.700 GeneticVariation CLINVAR

dbSNP: rs397516253
rs397516253
MYH7 ; MHRT
G 0.700 GeneticVariation CLINVAR

dbSNP: rs397516254
rs397516254
MYH7 ; MHRT
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 Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. 24664454

2014
dbSNP: rs397516254
rs397516254
MYH7 ; MHRT
T 0.700 CausalMutation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2014
dbSNP: rs397516254
rs397516254
MYH7 ; MHRT
T 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs397516254
rs397516254
MYH7 ; MHRT
T 0.700 GeneticVariation CLINVAR Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. 24664454

2014
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: 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: rs45516091
rs45516091
MYH7
A 0.700 GeneticVariation CLINVAR

dbSNP: rs45544633
rs45544633
MYH7 ; MHRT
A 0.700 GeneticVariation CLINVAR Prognostic Relevance of Gene-Environment Interactions in Patients With Dilated Cardiomyopathy: Applying the MOGE(S) Classification. 26383716

2015
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 Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy. 24119082

2013
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: rs45544633
rs45544633
MYH7 ; MHRT
A 0.700 GeneticVariation CLINVAR Effects of pathogenic proline mutations on myosin assembly. 22155079

2012
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
dbSNP: rs45544633
rs45544633
MYH7 ; MHRT
A 0.700 GeneticVariation CLINVAR The sarcomeric M-region: a molecular command center for diverse cellular processes. 25961035

2015
dbSNP: rs45544633
rs45544633
MYH7 ; MHRT
A 0.700 GeneticVariation CLINVAR Cardiomyopathy mutations in the tail of β-cardiac myosin modify the coiled-coil structure and affect integration into thick filaments in muscle sarcomeres in adult cardiomyocytes. 24047955

2013
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: rs606231324
rs606231324
MYH7
T 0.700 CausalMutation CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770

2012