| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Nijmegen breakage syndrome-like disorder | |
| | | Single nucleotide variant (nonsense) | Nijmegen breakage syndrome-like disorder +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (stop lost) | Hereditary cancer-predisposing syndrome | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene