| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant) | Aplastic anemia +2 more | |
| | | Single nucleotide variant (nonsense) | Microcephaly, normal intelligence and immunodeficiency +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Microcephaly, normal intelligence and immunodeficiency | |
| | | Single nucleotide variant (nonsense) | Microcephaly, normal intelligence and immunodeficiency | |
| | | Deletion (frameshift variant) | Aplastic anemia +7 more | |
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