| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Von Hippel-Lindau syndrome | |
| | | Single nucleotide variant (synonymous variant) | Von Hippel-Lindau syndrome | |
| | | Single nucleotide variant (missense variant) | Von Hippel-Lindau syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chuvash polycythemia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Von Hippel-Lindau syndrome +4 more | |
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