The incidence of VHL has been determined as approximately 1 in 36,000 live births.5 Seventy-two percent of patients can be diagnosed with VHL gene sequence analysis; large exonic or whole gene deletions or duplications are responsible for the remaining 28%.6 The p.R161X mutation identified in the family in the present study is a nonsense mutation described previously in the literature.7 According to the phenotypic characteristics, VHL disease can be divided into 4 phenotypic groups based on the presence of pheochromocytoma or renal cell carcinoma (type 1, type 2A, type 2B, and type 2C). Here, VHL is linked to hereditary clear cell renal cell carcinoma.