A retrospective cohort study included all the VHL patients diagnosed at Peking University First Hospital (Beijing, China) prior to June 1 2016. A total of 291 patients from 115 different families were included for analysis. This familial mutation was confirmed in family #50. Only the proband (patient 132) was genetically confirmed with the mutation. The proband (female) was diagnosed with a CNS hemangioblastoma at 26Y, renal cell carcinoma at 45Y, and multiple pancreatic cysts/tumors at 45Y. Her father (patient 135) was diagnosed with CNS hemangioblastoma at 25Y, but passed away before VHL disease diagnosis/ mutation confirmation. Her first brother (patient 133) was diagnosed with CNS hemangioblastoma at 29Y, RCC at 48Y, and multiple pancreatic cysts/tumors at 48Y, but no DNA sample was available for testing. Her second brother (patient 134) was diagnosed with CNS hemangioblastoma at 27Y, but passed away before VHL disease diagnosis/ mutation confirmation. This kindred was also published in a paper by Wang et al., 2018 (PMID: 29330336).