A cohort of VHL patients from the Greater Toronto Area in Canada were retrospectively reviewed. 7 patients were found with this germline mutation (c.496_506del), belonging to two pedigrees (but no data stated to determine which individuals belong together). Patient ID 44 had CNS hemangioblastoma and clear cell renal cell carcinoma; Patient ID 65 was found with the same mutation and only CNS hemangioblastoma; Patient ID 82 had retinal capillary hemangioma and hemangioblastoma; Patient ID 85 had hemangioblastoma, clear cell renal cell carcinoma and retinal capillary hemangioma; And patient ID 69, 83, 84 were all asymptomatic. Patients' age, and sex data was not reported.