| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC107303340, VHL (N150fs) | Deletion (frameshift variant +1 more) | Von Hippel-Lindau syndrome +2 more | GPathogenic/Likely pathogenic |
| | LOC107303340, VHL (S168fs +1 more) | Insertion (frameshift variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | GPathogenic/Likely pathogenic |
| | LOC107303340, VHL (R200W +1 more) | Single nucleotide variant (missense variant +1 more) | not specified +6 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene