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. One male patient (patient 226) was found with this germline mutation from family #84. He was diagnosed with CNS hemangioblastoma at 24Y and multiple pancreatic lesions at 26Y. This cohort was also published in a paper by Wang et al., 2018 (PMID: 29330336).