ADTKD-uromodulin (ADTKD-UMOD) is caused by UMOD mutations, which have been identified in exons 3, 4, 5, and 7, with more than 100 pathogenic variants reported to date, most commonly missense mutations, but also including deletion and indel variants [76]. Here, UMOD is linked to autosomal dominant medullary cystic kidney disease with or without hyperuricemia.