| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Von Hippel-Lindau syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Von Hippel-Lindau syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Chuvash polycythemia +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +5 more | GConflicting classifications of pathogenicity |
| | LOC107303340, VHL (E186K +1 more) | Single nucleotide variant (missense variant +1 more) | Chuvash polycythemia +3 more | |
| | LOC107303340, VHL (L188V +1 more) | Single nucleotide variant (missense variant +1 more) | Au-Kline syndrome +4 more | GPathogenic/Likely pathogenic |
| | LOC107303340, VHL (M211L +1 more) | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene