Whereas these genetic variants may affect millions of individuals with a putative disease-modulating effect, rare dominant-negative mutations within or 5′ to the VNTR region leading to expression of a short frameshift protein of MUC1 (MUC1-fs) cause autosomal dominant tubulointerstitial kidney disease (ADTKD-MUC1). This evidence concerns the gene MUC1 and autosomal dominant medullary cystic kidney disease with or without hyperuricemia.