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: rs397516122
rs397516122
MYH7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs397516123
rs397516123
MYH7
A 0.700 GeneticVariation CLINVAR

dbSNP: rs397516224
rs397516224
MYH7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs397516252
rs397516252
MYH7 ; MHRT
C 0.700 GeneticVariation CLINVAR

dbSNP: rs397516253
rs397516253
MYH7 ; MHRT
G 0.700 GeneticVariation CLINVAR

dbSNP: rs45516091
rs45516091
MYH7
A 0.700 GeneticVariation CLINVAR

dbSNP: rs727503265
rs727503265
MYH7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs760187215
rs760187215
MYH7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs869025483
rs869025483
MYH7 ; MHRT
A 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: 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: 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: rs397516089
rs397516089
MYH7
T 0.700 CausalMutation CLINVAR A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction. 24691700

2015
dbSNP: rs397516248
rs397516248
MYH7 ; MHRT
T 0.700 CausalMutation CLINVAR A rare mutation in MYH7 gene occurs with overlapping phenotype. 25576864

2015
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 Cardiac myosin missense mutations cause dilated cardiomyopathy in mouse models and depress molecular motor function. 16983074

2006
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: 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 Effects of pathogenic proline mutations on myosin assembly. 22155079

2012
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: rs121913642
rs121913642
MYH7
G 0.700 CausalMutation CLINVAR Elevated rates of force development and MgATP binding in F764L and S532P myosin mutations causing dilated cardiomyopathy. 23313350

2013