| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | not provided +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (intron variant) | Ataxia-telangiectasia syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Ataxia-telangiectasia syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (intron variant) | Ataxia-telangiectasia syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene