| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (nonsense) | Familial cancer of breast | |
| | | Deletion (frameshift variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome +4 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Ataxia-telangiectasia syndrome +1 more | |
Click to view in NCBI Gene