| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +5 more | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +2 more | |
| | | Deletion (frameshift variant) | Aplastic anemia +7 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Aplastic anemia +4 more | |
| | | Single nucleotide variant (splice donor variant) | Hereditary cancer-predisposing syndrome +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene