| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Familial cancer of breast | |
| | | Single nucleotide variant (nonsense) | Tip-toe gait | GLikely pathogenic, low penetrance |
| | | Microsatellite (frameshift variant) | Seizure +7 more | |
| | | Single nucleotide variant (missense variant) | Tip-toe gait +6 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial cancer of breast +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Familial cancer of breast +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Familial cancer of breast +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Ataxia-telangiectasia syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | ATM-related disorder +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Tip-toe gait +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene