ANK1 and Down syndrome: Three variants of USH2A (NM_007123), R5143C, C4870F, and G805A with unknown pathogenic potential were identified using TES (see Table S3, Supplemental Content, which illustrates variants or mutations of Usher syndrome type 2A (USH2A) and Ankyrin 1 (ANK1) identified in SH 94-208).