| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Vascular malformation +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | Paragangliomas with sensorineural hearing loss +6 more | |
| | LOC107303340, VHL (R200W +1 more) | Single nucleotide variant (missense variant +1 more) | Nonpapillary renal cell carcinoma +6 more | GConflicting classifications of pathogenicity |
| | LOC107303340, VHL (L163P +1 more) | Single nucleotide variant (missense variant +1 more) | Von Hippel-Lindau syndrome +2 more | |
Click to view in NCBI Gene