| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Hereditary cancer-predisposing syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Microcephaly, normal intelligence and immunodeficiency | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Deletion (frameshift variant) | Hereditary cancer-predisposing syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Deletion (frameshift variant) | Aplastic anemia | |
| | | Duplication (frameshift variant) | Microcephaly, normal intelligence and immunodeficiency +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Aplastic anemia +4 more | |
| | | Deletion (frameshift variant) | Microcephaly, normal intelligence and immunodeficiency | |
| | | Deletion (frameshift variant) | Microcephaly +6 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided | |
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