SEC61A1 and autosomal dominant medullary cystic kidney disease with or without hyperuricemia: Regarding the classical ADTKD associated genes (MUC1, UMOD, REN, HNF1B, SEC61A1), we found three typical cysteine variants in UMOD (NM_001278614.1: c.548G>A, p.(Cys183Tyr); c.608G>A, p.(Cys203Tyr); c.673G>T, p.(Gly225Cys)) and a novel missense (NM_000458.3: c.742C>G, p.(Gln248Glu)), and a novel canonical splice variant (NM_000458.3: c.810–1G>A, p.0)?