Germline BAP1 mutations were detected in 2/7 probands (#562: p.Asp236Glyfs*7 and #729: p.Arg385X) from CM-OM families and 1/193 probands (#714: p.Arg60X) from CM-non-OM kindreds (29% vs. 0.52%; p = .003, Fisher Exact Test). The gene discussed is BAP1; the disease is cutaneous mastocytosis.