These comprise variants within genes associated with various types of human cancer (MAD1L1) [45], Joubert syndrome 23 (KIAA0586) [46], hair disorders (PADI3) [47], mannose-binding lectin deficiency (MBL2) [48], and multiple sclerosis (IL4R) [49]. The gene discussed is KIAA0586; the disease is Joubert syndrome 23.