Heterozygous germline LoF variants in VHL are associated with rare Mendelian diseases such as von Hippel-Lindau syndrome (OMIM 193300), which is a cancer susceptibility syndrome characterized by vascular anomalies such as retinal, pulmonary, liver and adrenal hemangiomas as well as the clear cell type of RCC. The gene discussed is VHL; the disease is von Hippel-Lindau disease.