Two groups were analyzed for germline VHL mutation where Group 1 (84 individuals) presented with only one hemangioblastoma and no other clinical VHL features and those in Group 2 (4 individuals) presented with multiple hemangioblastomas and no other VHL clinical features. Peripheral blood analysis was conducted of all exons and flanking regions (90 nucleotides upstream and 45 downstream) of the VHL gene (numbered using Genbank accession number L15409). Southern blot, PCR and SSCP were performed. Patient B1 of Group 1 presented with a singular cerebellar hemangioblastoma at age 29 and was found to be harbouring a 7bp frameshift T124del (c.369_371del), referred to in the paper as del 582 GACACAC due to a difference in transcript sequence. She developed pancreatic cysts at age 34.