Variants VHL:c.562C>G (p.Leu188Val), VHL: c.429C>T (p.Asp143=), and VHL:c.388G>A (p.Val130Ile) have been reported in association with erythrocytosis [21,22,23,24,25,26] and not VHL syndrome [8]. Here, VHL is linked to von Hippel-Lindau disease.