Seven VHL mutations were identified in 10 unrelated, Swedish families. Direct genome sequencing through Southern blot identified this missense mutation (c.223delA) in a family (#3) of 8 individuals. One affected family member had renal cell carcinoma, 2 had retinal angiomas, and 2 had hemangioblastomas of the central nervous system. Other information on the affected member and relatives was not available.