| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Ataxia-telangiectasia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Deletion (frameshift variant) | Ataxia-telangiectasia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene