| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Von Hippel-Lindau syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Insertion | Atrial septal defect 8 | |
| | | Deletion (inframe_deletion) | Ventricular septal defect 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Erythrocytosis, familial, 3 | |
| | LOC107303340, VHL (H191D +1 more) | Single nucleotide variant (missense variant +1 more) | Chuvash polycythemia +1 more | |
| | LOC107303340, VHL (R200W +1 more) | Single nucleotide variant (missense variant +1 more) | not specified +6 more | GConflicting classifications of pathogenicity |
| | LOC107303340, VHL (L163P +1 more) | Single nucleotide variant (missense variant +1 more) | Chuvash polycythemia +2 more | |
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