Takayanagi et al. identified a c.194C>T transition in VHL-related cerebellum hemangioblastoma, and a nonsense transversion, c.194C>A (p.S65*), in a sporadic case of cerebellum hemangioblastoma, which also harbored additional VHL mutations, c.458T>G and VHL promoter methylation, resulting in biallelic inactivation of VHL [175]. The gene discussed is VHL; the disease is cerebellar hemangioblastoma.