Mutations in the VHL gene either prevent its expression(i.e., deletions, and frameshifts, nonsense mutations, splice site mutations) or lead to theexpression of an abnormal protein (i.e., missense mutations), and interestinggenotype-phenotype correlations are emerging for VHL disease that relate to thedevelopment of RCC [14]. The gene discussed is VHL; the disease is renal cell carcinoma.