Links from PubMed
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Chuvash polycythemia +2 more | GConflicting classifications of pathogenicity |
| | LOC107303340, VHL (D126fs) | Deletion (frameshift variant +1 more) | Von Hippel-Lindau syndrome +1 more | |
| | LOC107303340, VHL (C162Y +1 more) | Single nucleotide variant (missense variant +1 more) | Von Hippel-Lindau syndrome +1 more | GPathogenic/Likely pathogenic |
| | LOC107303340, VHL (Q145fs) | Deletion (frameshift variant +1 more) | Chuvash polycythemia +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Chuvash polycythemia +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Chuvash polycythemia +2 more | |
| | | Microsatellite (inframe_deletion) | Hereditary cancer-predisposing syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | LOC107303340, VHL (R161* +1 more) | Single nucleotide variant (nonsense +1 more) | Von Hippel-Lindau syndrome +3 more | |
Click to view in NCBI Gene