443T>C p.(Leu148Pro) and c.1186C>T p.(Arg396Trp).<h4>Conclusion</h4>Differential diagnosis of patients with hypercalciuria, nephrocalcinosis, and hypercalcemia related to vitamin D exposure should include the CYP24A1 gene mutation. This evidence concerns the gene CYP24A1 and Hypercalciuria.