| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant +1 more) | Ataxia-telangiectasia syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Ataxia-telangiectasia syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Ataxia-telangiectasia syndrome | |
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