Among the five subjects with a diagnosis of “probable” familial hypercholesterolemia (DLCN scores 6–8), two subjects were found to have pathogenic variants in the LDLR gene, including deletion NM_000527.4:c.(67+1_68-1)_(1586+1_1587-1)del in a heterozygous state. This evidence concerns the gene LDLR and familial hypercholesterolemia.