These variations comprise the polymorphism rs4072037, which alters splicing of MUC1 mRNA, the length of a region with variable number of tandem repeats (VNTR), and rare autosomal-dominant inherited dominant-negative mutations in or 5′ to the VNTR that causes autosomal dominant tubulointerstitial kidney disease (ADTKD-MUC1). This evidence concerns the gene MUC1 and autosomal dominant medullary cystic kidney disease with or without hyperuricemia.