rs376395543

aka c.26-2A>G; considered pathogenic in ClinVar for hypertrophic cardiomyopathy by multiple submitters. This variant is also found in the Genome Aggregation Database gnomad.broadinstitute.org in several people. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome. Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy. Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure. Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene. Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.