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. The gene discussed is CYP24A1; the disease is hypercalcemia disease.