| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Ataxia-telangiectasia-like disorder +3 more | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Ataxia-telangiectasia-like disorder 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene