Pathogenic variants in the SLC34A1 gene may cause a range of clinical phenotypes, including infantile hypercalcemia type 2 (IH2) (Omim: 616,963), nephrolithiasis/osteoporosis-hypophosphatemia type 2 (NPHLOP2) (Omim: 612,286), and Fanconi renotubular syndrome type 2 (Omim: 613388) [3, 4]. The gene discussed is SLC34A1; the disease is nephrolithiasis.