| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Abnormal central motor function +3 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (splice acceptor variant +2 more) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Deletion (frameshift variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | ATM-related condition +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Li-Fraumeni syndrome 2 +14 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene