RUVBL2 and Immunodeficiency: These SVs affect 15 genes, which are involved in brain function/neuro-diseases (IL20RB, NMNAT3, CLCN3, FBF1, ZNF563, PPP1R15A, and PTK6)34–38, bone development (VPS33A, CLCN3, and DECR2)39,40, spermatogenesis/sexual hormone (EXOSC10 and RUVBL2)41,42, immunodeficiency (UNG)43, fatty-acid degradation (DECR2)44 and skin disease (SLC17A9)45 (Table 2).