Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913628
rs121913628
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913628
rs121913628
MYH7
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913628
rs121913628
MYH7
CUI: C1850709
Disease: Myopathy, Hyaline Body, Autosomal Recessive
Myopathy, Hyaline Body, Autosomal Recessive 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913628
rs121913628
MYH7
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913628
rs121913628
MYH7
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913628
rs121913628
MYH7
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913628
rs121913628
MYH7
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 GeneticVariation UNIPROT "Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy." 12951062

2003
dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014
dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		T 0.800 CausalMutation CLINVAR A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy. 18409188

2008
dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 GeneticVariation UNIPROT Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children. 11133230

2001
dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		T 0.800 CausalMutation CLINVAR Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. 1552912

1992
dbSNP: rs121913628
rs121913628
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		T 0.700 CausalMutation CLINVAR Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. 1552912

1992
dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). 21267010

2011
dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 GeneticVariation UNIPROT Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure. 10065021

1998
dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		T 0.800 CausalMutation CLINVAR Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028

2004
dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
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
dbSNP: rs121913628
rs121913628
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		T 0.700 CausalMutation CLINVAR Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028

2004
dbSNP: rs121913628
rs121913628
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		T 0.700 CausalMutation CLINVAR Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028

2004
dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 GeneticVariation UNIPROT Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation. 1638703

1992
dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 GeneticVariation UNIPROT Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain. 10329202

1999
dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 GeneticVariation UNIPROT Gene mutations in apical hypertrophic cardiomyopathy. 16267253

2005
dbSNP: rs121913628
rs121913628
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 GeneticVariation UNIPROT Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy. 9829907

1998