An unspecified germline deletion in the VHL gene were found in three members of the same kindred and were demonstrated by FISH analysis. No VHL-associated visceral malignancies were found in any of the patients. The proband inherited the deletion from her father and paternal grandmother and passed the mutation to her daughter. However, no phenotypic data was provided for these familials. The proband presented with 2 cerebellar hemangioblastomas, both operated on at the age of 57. The proband's sister was found to have this deletion and presented with a C6 hemangioblastoma and a TH2 hemangioblastoma. The cervical spinal level was operated on at age 33 and the thoracic spinal level at age 34. Lastly the proband's niece also had the VHL deletion and presented with a brainstem hemangioblastomas that was operated on at the age of 57. The nature of the familial germline deletion not specified in further detail. All 5 hemangioblastoma tumors were analyzed for somatic mutations, and found (second hit in each tumor). The somatic mutations are as follows: p.K159E (c.475A>G); p.N131Y (c.391A>T); p.L89R (c.266T>G); p.E16D (c.48G>T) OR, c.8678 (p.Lys159Glu); c.5442A>T (p.Asn131Tyr); c.980T>G (p.Leu89Arg); c.762G>T (p.Glu16Asp); and an unspecified c.903_904insT; via Latif et al.’s (1993) old transcript) - used in paper. ACMG evidence codes: 'PP1' since there is cosegregation with disease in multiple affected family members, 'PP4' since the patient presents phenotypes highly specific for a disease with a single genetic etiology.