Some of these disease entities will not be detected by standard next-generation sequencing techniques, which is particularly true for ADTKD-MUC1 [10, 11], ADTKD-HNF1B where up to 50% of pathogenic variants consist of CNVs [12] and MITKD [8]. The gene discussed is MUC1; the disease is autosomal dominant medullary cystic kidney disease with or without hyperuricemia.