| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion) | Chuvash polycythemia +4 more | GPathogenic/Likely pathogenic |
| | LOC107303340, VHL (R167Q +1 more) | Single nucleotide variant (missense variant +1 more) | Von Hippel-Lindau syndrome +5 more | GConflicting classifications of pathogenicity |
| | LOC107303340, VHL (Q195* +1 more) | Single nucleotide variant (nonsense +1 more) | Von Hippel-Lindau syndrome +1 more | |
Click to view in NCBI Gene