| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (nonsense +1 more) | Bloom syndrome | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Bloom syndrome +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene