Medical records of 26 patients with germline mutations of the VHL gene who had been diagnosed with VHL disease in Severance Hospital (Seoul, Republic of Korea) and Samsung Medical Center (Seoul, Republic of Korea) between 2003 and 2012 were respectively reviewed. Peripheral blood leukocytes were isolated and directly sequenced. Patient 27, 42Y male, with VHL Type 1 presented with bilateral and/or multiple CNS hemangioblastomas and renal cell carcinoma. He had a germline missense mutation in the VHL gene, c.345C>A (p.His115Gln) (incorrectly reported in the current paper as “c.346C>A” and corrected by the authors to “c.345C>A” via email correspondence). The patient had a negative family history of VHL disease.