Gene: MYH7 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913630
rs121913630
MYH7
0.740 GeneticVariation BEFREE Hypertrophic cardiomyopathy <i>MYH7</i>-mutation R723G alters mRNA secondary structure. 31790337

2020
dbSNP: rs121913624
rs121913624
MYH7
0.740 GeneticVariation BEFREE Hypertrophic cardiomyopathy R403Q mutation in rabbit β-myosin reduces contractile function at the molecular and myofibrillar levels. 30322937

2018
dbSNP: rs121913624
rs121913624
MYH7
0.740 GeneticVariation BEFREE An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells obtained from the whole blood of a 38-year-old female patient with HCM in which genetic testing identified the well-known pathogenic p.Arg403Gln mutation in myosin heavy chain 7. iPSCs express pluripotency markers, demonstrate trilineage differentiation capacity, and display a normal 46,XX female karyotype. 30508693

2018
dbSNP: rs121913630
rs121913630
MYH7
0.740 GeneticVariation BEFREE Successful knock-in of Hypertrophic Cardiomyopathy-mutation R723G into the MYH7 gene mimics HCM pathology in pigs. 29555974

2018
dbSNP: rs121913624
rs121913624
MYH7
T 0.740 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs121913630
rs121913630
MYH7
C 0.740 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs121913630
rs121913630
MYH7
A 0.740 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs121913624
rs121913624
MYH7
T 0.740 CausalMutation CLINVAR Faster cross-bridge detachment and increased tension cost in human hypertrophic cardiomyopathy with the R403Q MYH7 mutation. 24928957

2014
dbSNP: rs121913624
rs121913624
MYH7
0.740 GeneticVariation BEFREE Therefore, increased tension cost might contribute to HCM disease in patients carrying the R403Q mutation. 24928957

2014
dbSNP: rs121913624
rs121913624
MYH7
T 0.740 CausalMutation CLINVAR Transgenic mouse α- and β-cardiac myosins containing the R403Q mutation show isoform-dependent transient kinetic differences. 23580644

2013
dbSNP: rs121913624
rs121913624
MYH7
T 0.740 CausalMutation CLINVAR Hypertrophic cardiomyopathy associated with left ventricular noncompaction cardiomyopathy and coronary fistulae: a case report. One genotype, three phenotypes? 24268868

2013
dbSNP: rs121913624
rs121913624
MYH7
T 0.740 CausalMutation CLINVAR Creatine kinase adenosine triphosphate and phosphocreatine energy supply in a single kindred of patients with hypertrophic cardiomyopathy. 23751935

2013
dbSNP: rs121913624
rs121913624
MYH7
T 0.740 CausalMutation CLINVAR Cardiac and skeletal muscle expression of mutant β-myosin heavy chains, degree of functional impairment and phenotypic heterogeneity in hypertrophic cardiomyopathy. 22213221

2012
dbSNP: rs121913624
rs121913624
MYH7
T 0.740 CausalMutation CLINVAR Cell-intrinsic functional effects of the α-cardiac myosin Arg-403-Gln mutation in familial hypertrophic cardiomyopathy. 22735528

2012
dbSNP: rs121913630
rs121913630
MYH7
A 0.740 CausalMutation CLINVAR Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation. 23074333

2012
dbSNP: rs121913630
rs121913630
MYH7
C 0.740 CausalMutation CLINVAR Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy. 21769673

2011
dbSNP: rs121913630
rs121913630
MYH7
A 0.740 CausalMutation CLINVAR Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations. 21835320

2011
dbSNP: rs121913624
rs121913624
MYH7
T 0.740 CausalMutation CLINVAR Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy. 20800588

2010
dbSNP: rs121913630
rs121913630
MYH7
C 0.740 CausalMutation CLINVAR The left and right ventricle of a patient with a R723G mutation of the beta-myosin heavy chain and severe hypertrophic cardiomyopathy show no differences in the expression of myosin mRNA. 20865685

2010
dbSNP: rs121913630
rs121913630
MYH7
A 0.740 CausalMutation CLINVAR Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. 20359594

2010
dbSNP: rs121913630
rs121913630
MYH7
0.740 GeneticVariation BEFREE The results showed that: Val606Met is an intermediate malignancy mutation; Arg694Leu is a novel mutation with a benign phenotype; and the Arg723Gly mutation is linked to malignancy - it can lead not only to HCM but also to dilated cardiomyopathy at various ages. 20819418

2010
dbSNP: rs121913630
rs121913630
MYH7
C 0.740 CausalMutation CLINVAR Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge compliance. 19651039

2009
dbSNP: rs121913630
rs121913630
MYH7
C 0.740 CausalMutation CLINVAR [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. 19150014

2009
dbSNP: rs121913624
rs121913624
MYH7
T 0.740 CausalMutation CLINVAR The R403Q myosin mutation implicated in familial hypertrophic cardiomyopathy causes disorder at the actomyosin interface. 17987111

2007
dbSNP: rs121913624
rs121913624
MYH7
T 0.740 CausalMutation CLINVAR Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay. 17351073

2007