Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138049878
rs138049878
MYH7
A 0.700 GeneticVariation CLINVAR Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy. 30022097

2018
dbSNP: rs138049878
rs138049878
MYH7
A 0.700 GeneticVariation CLINVAR Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy. 28771489

2017
dbSNP: rs138049878
rs138049878
MYH7
A 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs138049878
rs138049878
MYH7
A 0.700 GeneticVariation CLINVAR Genetics of hypertrophic cardiomyopathy in Norway. 24111713

2014
dbSNP: rs138049878
rs138049878
MYH7
A 0.700 GeneticVariation CLINVAR Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy. 25132132

2014
dbSNP: rs138049878
rs138049878
MYH7
A 0.700 GeneticVariation CLINVAR Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy. 22112859

2012
dbSNP: rs138049878
rs138049878
MYH7
A 0.700 GeneticVariation CLINVAR Hypertrophic cardiomyopathy: from mutation to functional analysis of defective protein. 21674835

2011
dbSNP: rs138049878
rs138049878
MYH7
A 0.700 GeneticVariation CLINVAR Impact of renin-angiotensin system polymorphisms on development of systolic dysfunction in hypertrophic cardiomyopathy. Evidence from a study of genotyped patients. 20975235

2010
dbSNP: rs138049878
rs138049878
MYH7
A 0.700 GeneticVariation CLINVAR [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. 19150014

2009
dbSNP: rs138049878
rs138049878
MYH7
A 0.700 GeneticVariation CLINVAR A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardiomyopathy in several members of an Indian family. 17703256

2007
dbSNP: rs138049878
rs138049878
MYH7
A 0.700 GeneticVariation CLINVAR Dissecting the N-terminal myosin binding site of human cardiac myosin-binding protein C. Structure and myosin binding of domain C2. 17192269

2007
dbSNP: rs138049878
rs138049878
MYH7
A 0.700 GeneticVariation CLINVAR Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739

2003
dbSNP: rs138049878
rs138049878
MYH7
A 0.700 GeneticVariation CLINVAR Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. 12975413

2003
dbSNP: rs138049878
rs138049878
MYH7
A 0.700 GeneticVariation CLINVAR Novel cardiac beta-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy. 10862102

2000
dbSNP: rs138049878
rs138049878
MYH7
A 0.700 GeneticVariation CLINVAR The in vitro motility activity of beta-cardiac myosin depends on the nature of the beta-myosin heavy chain gene mutation in hypertrophic cardiomyopathy. 9172070

1997
dbSNP: rs138049878
rs138049878
MYH7
A 0.700 GeneticVariation CLINVAR A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy. 7796500

1995