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. Author manuscript; available in PMC: 2016 Nov 24.
Published in final edited form as: Handb Clin Neurol. 2015;132:139–156. doi: 10.1016/B978-0-444-62702-5.00010-X

Table 10.3.

Recognized subtypes of VHL disease

Phenotype Genotype


Frequency of pheochromocytoma Frequency of RCC Common features of mutations Examples of commonly associated mutations
Type 1 A Low High Germline deletions, truncating mutations, and missense mutations affecting structural integrity of pVHL Large deletions involving C3orf10
B Low Low
Type 2 A High Low Surface missense mutations “Black Forest” founder mutation: p.Tyr169His
B High High Missense at codon 167: p.Arg167Trp and p. ArgGln
C High*
*

Type 2C manifests pheochromocytomas in absence of other tumors.