PKHD1 and Schimke immuno-osseous dysplasia: Other seven novel variants were identified in five genes, namely, SMARCAL1, CLCN5, NBAS, TRPC6, and PKHD1 in six probands, who were diagnosed as SIOD, DENT1, ILFS2, FSGS2, and ARPKD (Table 3).