ATP2B4 and Leber congenital amaurosis: This patient, however, also carried variants of unclear significance in three other genes: (1) ATP2B4, which is associated with asthenozoospermia in mice; (2) CEP290, mutations which are a known cause of Leber’s Congenital Amaurosis that is associated with asthenozoospermia in males; and (3) CEP350, which is known to interact with CEP290 and the known MMAF gene CEP135.