| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Ataxia-telangiectasia-like disorder 1 +3 more | |
| | | Deletion (splice acceptor variant +1 more) | Ataxia-telangiectasia-like disorder 1 | |
Click to view in NCBI Gene