WES revealed additional genetic diagnoses, including hereditary hemochromatosis-associated variants (n = 5), familial Mediterranean fever (n = 4), homozygous MSH6 mutation-associated hereditary cancer predisposition (n = 2), and autosomal dominant polycystic kidney disease (ADPKD) (n = 2). The gene discussed is MSH6; the disease is hereditary hemochromatosis.