| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Familial cancer of breast | |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome +1 more | |
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