| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Ataxia-telangiectasia syndrome +5 more | |
| | | Single nucleotide variant (nonsense +1 more) | Ataxia-telangiectasia syndrome +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene