Gene: MYH7 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913647
rs121913647
MYH7 ; MHRT
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555338080
rs1555338080
MYH7
G 0.700 GeneticVariation CLINVAR

dbSNP: rs377491278
rs377491278
MYH7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs397516089
rs397516089
MYH7
T 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs397516122
rs397516122
MYH7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs397516123
rs397516123
MYH7
A 0.700 GeneticVariation CLINVAR

dbSNP: rs397516142
rs397516142
MYH7
G 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
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 Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians. 25448463

2014
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 Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction. 26025024

2015
dbSNP: rs397516165
rs397516165
MYH7
T 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
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: rs397516224
rs397516224
MYH7
T 0.700 GeneticVariation CLINVAR

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: 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 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 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