| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Ataxia-telangiectasia syndrome +6 more | |
| | | Deletion (frameshift variant +1 more) | Familial cancer of breast +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Ataxia-telangiectasia syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Familial cancer of breast | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant +1 more) | Ataxia-telangiectasia syndrome +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Familial cancer of breast +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Familial cancer of breast | |
| | | Deletion (frameshift variant +1 more) | Familial cancer of breast | |
| | | Single nucleotide variant (missense variant +1 more) | Familial cancer of breast | |
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