In our proband 1 (VHL disease type 2A, PCC with low risk of renal cell carcinomas), proband 2 (VHL disease type 2B, PCC with high risk of renal cell carcinomas), and proband 3 (VHL disease type 2C, PCC without any other carcinomas), the amino acid residues 95, 186, and 201 of VHL protein with substitution or deletion were identified, respectively. Here, VHL is linked to renal cell carcinoma.