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
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: rs36211715
rs36211715
MYH7
T 0.710 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs371898076
rs371898076
MYH7
T 0.710 CausalMutation CLINVAR Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. 26914223

2016
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 CausalMutation CLINVAR Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain. 25935763

2015
dbSNP: rs3218713
rs3218713
MYH7
T 0.710 CausalMutation CLINVAR A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction. 24691700

2015
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
T 0.710 CausalMutation CLINVAR Genetics of hypertrophic cardiomyopathy in Norway. 24111713

2014
dbSNP: rs121913624
rs121913624
MYH7
T 0.710 CausalMutation CLINVAR Creatine kinase adenosine triphosphate and phosphocreatine energy supply in a single kindred of patients with hypertrophic cardiomyopathy. 23751935

2013
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 CausalMutation CLINVAR Familial hypertrophic cardiomyopathy: functional effects of myosin mutation R723G in cardiomyocytes. 23318932

2013
dbSNP: rs36211715
rs36211715
MYH7
T 0.710 CausalMutation CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745

2013
dbSNP: rs36211715
rs36211715
MYH7
T 0.710 CausalMutation CLINVAR Detection of a large duplication mutation in the myosin-binding protein C3 gene in a case of hypertrophic cardiomyopathy. 23816408

2013
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 CausalMutation CLINVAR Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy. 23690394

2013
dbSNP: rs371898076
rs371898076
MYH7
T 0.710 CausalMutation CLINVAR Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. 23233322

2013
dbSNP: rs371898076
rs371898076
MYH7
T 0.710 CausalMutation CLINVAR Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells. 23290139

2013
dbSNP: rs371898076
rs371898076
MYH7
T 0.710 CausalMutation CLINVAR Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 23396983

2013
dbSNP: rs371898076
rs371898076
MYH7
T 0.710 CausalMutation CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745

2013
dbSNP: rs36211715
rs36211715
MYH7
T 0.710 CausalMutation CLINVAR High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. 22429680

2012
dbSNP: rs371898076
rs371898076
MYH7
T 0.710 CausalMutation CLINVAR Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy. 22112859

2012
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 CausalMutation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011
dbSNP: rs36211715
rs36211715
MYH7
T 0.710 CausalMutation CLINVAR Hypertrophic cardiomyopathy: from mutation to functional analysis of defective protein. 21674835

2011
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 CausalMutation CLINVAR Mutations in the beta-myosin heavy chain gene in southern Chinese families with hypertrophic cardiomyopathy. 20819418

2010
dbSNP: rs371898076
rs371898076
MYH7
T 0.710 CausalMutation CLINVAR Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy. 20800588

2010