In 24 of the 82 patients referred with nephrolithiasis and renal calcinosis, pathogenic variants in eight disease-causing genes were detected, including AGXT (9), HOGA1 (5), SLC3A1 (4), KCNJ1 (1), GRHPR (2), CYP24A1 (1), SLC34A1 (1) and SLC7A9 (1). The gene discussed is KCNJ1; the disease is nephrolithiasis.