One patient with suspected Dent disease carried a missense mutation in CLCN5, one patient with suspected dRTA carried two compound heterozygous missense mutations in recessive gene ATP6V1B1, two patients with suspected Cystinuria and PH3 carried one heterozygous missense mutation and one likely pathogenic mutation in a recessive gene, and the detected CNV was also defined as a VUS. The gene discussed is CLCN5; the disease is cystinuria.