The most common KSD-associated VUS were sucrase-isomaltase deficiency (SI, N = 8), Wilson disease (ATP7B, N = 7), pseudoxanthoma elasticum and generalized arterial calcification of infancy (ABCC6, N = 5), CYP24A1-related hypercalcemia (CYP24A1, N = 4), and hypouricemia Renal 1 (SLC22A12, N = 4). The gene discussed is ATP7B; the disease is congenital sucrase-isomaltase deficiency.