Hif-2α missense mutations are mostly linked to familial erythrocytosis (A410T, M535V, M535T, G537R, G537W, F540L, F608L, S703A, T766P, P785T, I789V, R798G, R825Q, and E832D). Here, EPAS1 is linked to primary familial polycythemia due to EPO receptor mutation.