| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Pancreatic cysts +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Von Hippel-Lindau syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Von Hippel-Lindau syndrome +6 more | |
Click to view in NCBI Gene