Gene: MYH7 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913624
rs121913624
MYH7
0.710 GeneticVariation BEFREE In 1990, the Seidmans showed that a single point mutation, R403Q, in the human β-myosin heavy chain (MHC) of heart muscle caused a particularly malignant form of familial hypertrophic cardiomyopathy (HCM) [Geisterfer-Lowrance AA, et al.(1990) Cell 62:999-1006.]. 30322937

2018
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 GeneticVariation CLINVAR Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. 20359594

2010
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 GeneticVariation CLINVAR Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. 1430197

1992
dbSNP: rs121913630
rs121913630
MYH7
0.710 GeneticVariation BEFREE The finding of HCM-specific pathology in neonatal R723G-piglets suggests a very early onset of the disease and highlights the importance of novel large animal models for studying causative mechanisms and long-term progression of human cardiac diseases. 29555974

2018
dbSNP: rs3218713
rs3218713
MYH7
0.710 GeneticVariation BEFREE Whole exome sequencing analysis revealed a R249Q-MYH7 mutation associated previously with familial hypertrophic cardiomyopathy, sudden death, and impaired β-myosin heavy chain (MHC-β) actin-translocating and actin-activated ATPase (adenosine triphosphatase) activity. 24298987

2014
dbSNP: rs36211715
rs36211715
MYH7
0.710 GeneticVariation BEFREE The p.R870H mutation has been identified as the cause of familial hypertrophic cardiomyopathy in an Indian family. 17703256

2007
dbSNP: rs371898076
rs371898076
MYH7
0.710 GeneticVariation BEFREE To elucidate the mechanisms underlying HCM development, we generated patient-specific induced pluripotent stem cell cardiomyocytes (iPSC-CMs) from a ten-member family cohort carrying a hereditary HCM missense mutation (Arg663His) in the MYH7 gene. 23290139

2013
dbSNP: rs371898076
rs371898076
MYH7
T 0.710 GeneticVariation CLINVAR

dbSNP: rs1057517773
rs1057517773
MYH7
T 0.700 GeneticVariation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016
dbSNP: rs1057517773
rs1057517773
MYH7
T 0.700 GeneticVariation CLINVAR Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. 26656175

2016
dbSNP: rs1057517773
rs1057517773
MYH7
T 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs1060501448
rs1060501448
MYH7
G 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs1060501448
rs1060501448
MYH7
G 0.700 GeneticVariation CLINVAR Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain. 25935763

2015
dbSNP: rs1060501448
rs1060501448
MYH7
G 0.700 GeneticVariation CLINVAR High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. 22429680

2012
dbSNP: rs1060501448
rs1060501448
MYH7
G 0.700 GeneticVariation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011
dbSNP: rs121913626
rs121913626
MYH7
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121913627
rs121913627
MYH7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121913632
rs121913632
MYH7
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121913633
rs121913633
MYH7
T 0.700 GeneticVariation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011
dbSNP: rs121913633
rs121913633
MYH7
T 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs121913641
rs121913641
MYH7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121913642
rs121913642
MYH7
G 0.700 GeneticVariation CLINVAR Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay. 17351073

2007
dbSNP: rs121913642
rs121913642
MYH7
G 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs121913642
rs121913642
MYH7
G 0.700 GeneticVariation CLINVAR Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. 11106718

2000
dbSNP: rs121913642
rs121913642
MYH7
G 0.700 GeneticVariation CLINVAR Elevated rates of force development and MgATP binding in F764L and S532P myosin mutations causing dilated cardiomyopathy. 23313350

2013