| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (nonsense) | Von Hippel-Lindau syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Von Hippel-Lindau syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Von Hippel-Lindau syndrome +3 more | |
Click to view in NCBI Gene