35 (45%) had missense variants
A cohort of VHL patients from the Greater Toronto Area in Canada were retrospectively reviewed. Patients ID 3 and 25 had this germline mutation (p.D92V). Patient 3 had: CNS hemangioblastoma. Patient 25 pheochromocytoma/paraganglioma (recorded here as a neuroendocrine neoplasm). Whether patients were related, age, and sex data was not reported. ACMG PP4