| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Chuvash polycythemia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | LOC107303340, VHL (R167W +1 more) | Single nucleotide variant (missense variant +1 more) | Von Hippel-Lindau syndrome +5 more | GPathogenic/Likely pathogenic |
| | LOC107303340, VHL (R167Q +1 more) | Single nucleotide variant (missense variant +1 more) | not specified +5 more | GConflicting classifications of pathogenicity |
| | LOC107303340, VHL (R182K +1 more) | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +4 more | |
Click to view in NCBI Gene