Table 1.

Clinical phenotypes of vHL are classified into four types

Type IType IBType IIAType IIBType IIC
Clinical manifestations
  • Retinal angioma

  • CNS HB

  • RCC

  • Pancreatic NETs

  • Low risk for PHEO

  • Retinal angioma

  • CNS HB

  • Pancreatic NETs

  • Low risk for PHEO

  • Low risk for RCC

  • PHEO

  • Retinal angioma

  • CNS HB

  • Low risk for RCC

  • PHEO

  • Retinal angioma

  • CNS HB

  • Pancreatic cysts

  • Pancreatic NETs

  • RCC

  • PHEO

  • CNS HB

  • Pancreatic NETs (rare)

Most common VHL variantsTruncating variants, exon deletionsGene deletions encompassing VHLMissense variants(e.g., p.Y98H, p.Y112H, p.V116F)Missense variants(e.g., p.R167Q, p.R167W)Missense variants(e.g., p.V84L, p.L188V)
  • NOTE: Based on ref. 6.

  • Abbreviation: CNS HB, central nervous system hemangioblastoma.