| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Abnormal central motor function +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | ATM-related condition +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Familial cancer of breast +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Breast carcinoma | |
| | | Deletion (frameshift variant +1 more) | Breast carcinoma | |
| | | Deletion (frameshift variant +1 more) | Gastric cancer +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Ataxia-telangiectasia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | ATM-related condition +5 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome | |
Click to view in NCBI Gene