| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | Paragangliomas 1 +6 more | |
| | LOC107303340, VHL (R200W +1 more) | Single nucleotide variant (missense variant +1 more) | not specified +6 more | GConflicting classifications of pathogenicity |
| | LOC107303340, VHL (L163P +1 more) | Single nucleotide variant (missense variant +1 more) | Chuvash polycythemia +2 more | |
Click to view in NCBI Gene