| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Hereditary cancer-predisposing syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Fanconi anemia complementation group O +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | Fanconi anemia complementation group O | |
Click to view in NCBI Gene