Gene: MYH7 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs606231324
rs606231324
MYH7
T 0.700 CausalMutation CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770

2012
dbSNP: rs606231324
rs606231324
MYH7
T 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs727503253
rs727503253
MYH7
A 0.700 CausalMutation CLINVAR Genetic Testing in Pediatric Left Ventricular Noncompaction. 29212898

2017
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 Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. 23349452

2013
dbSNP: rs727503253
rs727503253
MYH7
A 0.700 CausalMutation CLINVAR Haplotype sharing test maps genes for familial cardiomyopathies. 20573160

2011
dbSNP: rs727503253
rs727503253
MYH7
A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs727503254
rs727503254
MYH7
A 0.700 GeneticVariation CLINVAR Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families. 23054336

2013
dbSNP: rs727503254
rs727503254
MYH7
A 0.700 GeneticVariation CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770

2012
dbSNP: rs727503254
rs727503254
MYH7
A 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs727503258
rs727503258
MYH7
C 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs727503258
rs727503258
MYH7
C 0.700 GeneticVariation CLINVAR Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy. 21211974

2011
dbSNP: rs727503265
rs727503265
MYH7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs760187215
rs760187215
MYH7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121913647
rs121913647
MYH7 ; MHRT
T 0.700 GeneticVariation CLINVAR

dbSNP: rs397516248
rs397516248
MYH7 ; MHRT
T 0.700 CausalMutation CLINVAR A rare mutation in MYH7 gene occurs with overlapping phenotype. 25576864

2015
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 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