Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913626
rs121913626
T 0.700 CausalMutation CLINVAR Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup. 28640247

2018

dbSNP: rs121913626
rs121913626
T 0.700 CausalMutation CLINVAR Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease. 28611029

2017

dbSNP: rs121913626
rs121913626
T 0.700 CausalMutation CLINVAR Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. 26914223

2016

dbSNP: rs121913626
rs121913626
G 0.700 CausalMutation CLINVAR Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. 26187847

2015

dbSNP: rs121913626
rs121913626
T 0.700 CausalMutation CLINVAR Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. 26187847

2015

dbSNP: rs121913626
rs121913626
T 0.700 CausalMutation CLINVAR Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. 24510615

2014

dbSNP: rs121913626
rs121913626
G 0.700 CausalMutation CLINVAR Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. 24510615

2014

dbSNP: rs121913626
rs121913626
T 0.700 CausalMutation CLINVAR Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 24793961

2014

dbSNP: rs121913626
rs121913626
G 0.700 CausalMutation CLINVAR Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. 24093860

2013

dbSNP: rs121913626
rs121913626
T 0.700 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: rs121913626
rs121913626
G 0.700 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: rs121913626
rs121913626
T 0.700 CausalMutation CLINVAR Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. 24093860

2013

dbSNP: rs121913626
rs121913626
G 0.700 CausalMutation CLINVAR High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. 22429680

2012

dbSNP: rs121913626
rs121913626
T 0.700 CausalMutation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011

dbSNP: rs121913626
rs121913626
T 0.700 CausalMutation CLINVAR Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. 18258667

2008

dbSNP: rs121913626
rs121913626
T 0.700 CausalMutation CLINVAR Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739

2003

dbSNP: rs121913626
rs121913626
G 0.700 CausalMutation CLINVAR Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739

2003

dbSNP: rs121913626
rs121913626
G 0.700 CausalMutation CLINVAR Mutations in the motor domain modulate myosin activity and myofibril organization. 12953063

2003

dbSNP: rs121913626
rs121913626
T 0.700 CausalMutation CLINVAR Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. 8282798

1994

dbSNP: rs121913626
rs121913626
T 0.700 CausalMutation CLINVAR Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations of the beta-myosin heavy chain gene. 8335820

1993

dbSNP: rs121913626
rs121913626
G 0.700 CausalMutation CLINVAR Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy. 8250038

1993

dbSNP: rs121913626
rs121913626
T 0.700 CausalMutation CLINVAR Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. 1552912

1992

dbSNP: rs121913626
rs121913626
A 0.700 GeneticVariation CLINVAR