| | | Single nucleotide variant (missense variant) | Ataxia-telangiectasia-like disorder +3 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Ataxia-telangiectasia-like disorder 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia-like disorder +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Ataxia-telangiectasia-like disorder +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Ataxia-telangiectasia-like disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ataxia-telangiectasia-like disorder 1 | |
| | | Single nucleotide variant (missense variant) | Ataxia-telangiectasia-like disorder 1 +1 more | |
| | | Duplication (frameshift variant) | Ataxia-telangiectasia-like disorder 1 | |
| | | Single nucleotide variant (splice donor variant) | Ataxia-telangiectasia-like disorder 1 | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Hereditary cancer-predisposing syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ataxia-telangiectasia-like disorder +2 more | |
| | | Single nucleotide variant (missense variant) | MRE11-related disorder +3 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | Ataxia-telangiectasia-like disorder 1 +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Ataxia-telangiectasia-like disorder 1 | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ataxia-telangiectasia-like disorder 1 | |
| | | Single nucleotide variant (missense variant) | Ataxia-telangiectasia-like disorder 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ataxia-telangiectasia-like disorder 1 +4 more | |
| | | Single nucleotide variant (splice acceptor variant) | Ataxia-telangiectasia-like disorder 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ataxia-telangiectasia-like disorder 1 | |
| | | Single nucleotide variant (missense variant) | Ataxia-telangiectasia-like disorder 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Ataxia-telangiectasia-like disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Ataxia-telangiectasia-like disorder +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |