Case #3 (EPAS1 variant c.1121T>A, p.Phe374Tyr together with SDHB mutation c.286G>A, p.Gly96Ser) was a woman who had resection of a carotid body paraganglioma at age 52 years, without recurrence 15 years later; her most recent hematocrit values have ranged between 0.47 and 0.49 (normal range 0.35–0.47). The gene discussed is EPAS1; the disease is carotid body paraganglioma.