Of the 16 diagnostic variants in COL4A5, nine (56.3%) were the previously reported c.1871G>A p.(Gly624Asp) variant (NM_033380.2), which appears to be a relatively frequent founder variant in Europe and has traditionally been described to lead to a milder course of CKD [23, 24], while more recent research [25, 26] suggests a broad spectrum with possible severe phenotypes. The gene discussed is COL4A5; the disease is chronic kidney disease.