CTNS and cystinosis: The c.382C>T variant in the CTNS gene (ACMG criteria PVS1, PM2, PM3, and PP5) is located in the 7th exon of this gene and has previously been reported by Town et al. (1998) [21] in association with nephropathic cystinosis and is described as pathogenic in two additional patients according to the ClinVar database.