Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR β-Myosin heavy chain variant Val606Met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates HCM phenotypes in mice carrying other HCM mutations. 24829265

2014

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy. 24888384

2014

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations. 28296734

2017

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Clinical genetics and outcome of left ventricular non-compaction cardiomyopathy. 29029073

2017

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. 29300372

2018

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy. 29907873

2018