| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Microcephaly, normal intelligence and immunodeficiency +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +8 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene