| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (5 prime UTR variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Pheochromocytoma +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +4 more | GConflicting classifications of pathogenicity |
| | LOC107303340, VHL (R167W +1 more) | Single nucleotide variant (missense variant +1 more) | Von Hippel-Lindau syndrome +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene