| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Chuvash polycythemia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Von Hippel-Lindau syndrome +4 more | |
Click to view in NCBI Gene