LDLR and familial hypercholesterolemia: The LDLR gene, associated with familial hypercholesterolemia (Fokkema et al. 2005), was found to have the p.Glu250Lys variant, which was not found in dbSNP, 1000genomes or ClinVar, but was reported in the LDLR locus-specific database and HGMD database (as of November 25, 2013).