| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | LOC107303340, VHL (R161* +1 more) | Single nucleotide variant (nonsense +1 more) | Von Hippel-Lindau syndrome +3 more | |
| | LOC107303340, VHL (R167W +1 more) | Single nucleotide variant (missense variant +1 more) | Chuvash polycythemia +5 more | GPathogenic/Likely pathogenic |
| | LOC107303340, VHL (S183L +1 more) | Single nucleotide variant (missense variant +1 more) | Chuvash polycythemia +3 more | |
Click to view in NCBI Gene