| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Ataxia-telangiectasia-like disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ataxia-telangiectasia-like disorder +3 more | |
| | | Single nucleotide variant (missense variant) | Ataxia-telangiectasia-like disorder 1 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | MRE11-related condition +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Ataxia-telangiectasia-like disorder +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ovarian cancer +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Ataxia-telangiectasia-like disorder 1 +4 more | GConflicting classifications of pathogenicity |
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