Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3218713
rs3218713
MYH7
T 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs3218713
rs3218713
MYH7
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: rs3218713
rs3218713
MYH7
T 0.700 CausalMutation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016
dbSNP: rs3218713
rs3218713
MYH7
T 0.700 CausalMutation CLINVAR Confirmation of cause and manner of death via a comprehensive cardiac autopsy including whole exome next-generation sequencing. 24298987

2014
dbSNP: rs3218713
rs3218713
MYH7
T 0.700 CausalMutation CLINVAR Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. 23233322

2013
dbSNP: rs3218713
rs3218713
MYH7
T 0.700 CausalMutation CLINVAR Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. 12975413

2003
dbSNP: rs3218713
rs3218713
MYH7
T 0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003
dbSNP: rs3218713
rs3218713
MYH7
T 0.700 CausalMutation CLINVAR Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children. 11133230

2001
dbSNP: rs3218713
rs3218713
MYH7
T 0.700 CausalMutation CLINVAR Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy. 9826622

1998
dbSNP: rs3218713
rs3218713
MYH7
T 0.700 CausalMutation CLINVAR Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure. 10065021

1998
dbSNP: rs3218713
rs3218713
MYH7
T 0.700 CausalMutation CLINVAR The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation. 9140839

1997
dbSNP: rs3218713
rs3218713
MYH7
T 0.700 CausalMutation CLINVAR Clinical and prognostic evaluation of familial hypertrophic cardiomyopathy in two South African families with different cardiac beta myosin heavy chain gene mutations. 7662452

1995
dbSNP: rs3218713
rs3218713
MYH7
T 0.700 CausalMutation CLINVAR Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. 7731997

1995
dbSNP: rs3218713
rs3218713
MYH7
T 0.700 CausalMutation CLINVAR Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. 1552912

1992
dbSNP: rs3218713
rs3218713
MYH7
T 0.700 CausalMutation CLINVAR Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes. 1944483

1991