The complete genetic study revealed one likely pathogenic variant (p.(Ser795*)) in one patient with elevated serum Ca2+ and PTH levels, hypocalciuria and hypomagnesemia; and 3 variants not previously reported of uncertain significance in other three patients diagnosed of Bartter syndrome (p.(Ser186Thr) and p.(Ile260Phe)) and calcium metabolism disorder (p.(Asp335Asn)). This evidence concerns the gene PTH and Bartter syndrome.