Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167322
rs1114167322
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C1834481
Disease:
CARDIOMYOPATHY, DILATED, 1S 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs121913647
rs121913647
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C4552004
Disease:
Distal Myopathy 1 		0.800 GeneticVariation UNIPROT New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7. 17548557 2007
dbSNP: rs121913647
rs121913647
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C4552004
Disease:
Distal Myopathy 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121913647
rs121913647
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C4552004
Disease:
Distal Myopathy 1 		0.800 GeneticVariation UNIPROT Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). 15322983 2004
dbSNP: rs121913647
rs121913647
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		G 0.700 CausalMutation CLINVAR Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). 15322983 2004
dbSNP: rs121913647
rs121913647
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		G 0.700 CausalMutation CLINVAR Effects of pathogenic proline mutations on myosin assembly. 22155079 2012
dbSNP: rs121913647
rs121913647
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		G 0.700 CausalMutation CLINVAR Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy. 15556047 2004
dbSNP: rs121913647
rs121913647
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		G 0.700 CausalMutation CLINVAR Cardiac magnetic resonance imaging of myocardial contrast uptake and blood flow in patients affected with idiopathic or familial dilated cardiomyopathy. 18660445 2008
dbSNP: rs121913647
rs121913647
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		G 0.700 CausalMutation CLINVAR Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy. 24119082 2013
dbSNP: rs121913647
rs121913647
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		G 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: rs121913647
rs121913647
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		G 0.700 CausalMutation CLINVAR Mutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes. 19854198 2010
dbSNP: rs121913647
rs121913647
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs121913647
rs121913647
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C0751336
Disease:
Distal Muscular Dystrophies 		0.010 GeneticVariation BEFREE Here, we attempt to dissect the mechanism(s) by which mutations in the rod region of beta-MyHC can cause a variety of diseases by analyzing two mutations at a single amino acid (R1500P and R1500W) which cause two distinct diseases (Laing-type early-onset distal myopathy and dilated cardiomyopathy, respectively). 19854198 2010
dbSNP: rs121913648
rs121913648
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C4552004
Disease:
Distal Myopathy 1 		A 0.700 CausalMutation CLINVAR An autosomal dominant early adult-onset distal muscular dystrophy. 11102913 2000
dbSNP: rs121913648
rs121913648
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C4552004
Disease:
Distal Myopathy 1 		A 0.700 CausalMutation CLINVAR Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy. 24300783 2014
dbSNP: rs121913648
rs121913648
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C4552004
Disease:
Distal Myopathy 1 		A 0.700 CausalMutation CLINVAR Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). 15322983 2004
dbSNP: rs121913648
rs121913648
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C4552004
Disease:
Distal Myopathy 1 		A 0.700 CausalMutation CLINVAR Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus. 11166161 2001
dbSNP: rs121913648
rs121913648
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121913649
rs121913649
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C1842160
Disease:
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 GeneticVariation UNIPROT Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. 15136674 2004
dbSNP: rs121913649
rs121913649
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C1842160
Disease:
MYOPATHY, MYOSIN STORAGE (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121913649
rs121913649
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C1842160
Disease:
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 GeneticVariation UNIPROT Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. 14520662 2003
dbSNP: rs121913649
rs121913649
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C1842160
Disease:
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 GeneticVariation UNIPROT MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. 17336526 2007
dbSNP: rs121913649
rs121913649
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C1842160
Disease:
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 GeneticVariation UNIPROT Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred. 16684601 2006
dbSNP: rs121913650
rs121913650
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C3495498
Disease:
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 GeneticVariation UNIPROT Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy. 8268932 1993
dbSNP: rs121913650
rs121913650
Entrez Id: 4625;104564225
Gene Symbol: MYH7;MHRT
MYH7;MHRT
CUI: C3495498
Disease:
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 GeneticVariation UNIPROT Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028 2004