Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. One patient was found with this insertion in the VHL gene. The patient was 42Y at the last follow-up and presented with: retinal hemangioblastoma, cerebellar hemangioblastoma, spinal cord hemangioblastoma, renal cell carcinoma, renal cysts and pancreatic cysts. Family history was not described. This cohort was published later in PMID 31087189.

All patients that were operated on between 1995 and 2010 in the University Medical Center Groningen from who frozen hemangioblastoma tissue was available in the tissue bank of the Department of Pathology were eligible. Through PCR (MSP) and MLPA, one patient sample was confirmed with a germline mutation (c.259_260insA) in the VHL gene. The patients' manifestations was thus only stated as hemangioblastoma; No other phenotypic or demographic information was available. Note: This sample was likely duplicated in 24132471