| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Microcephaly, normal intelligence and immunodeficiency +7 more | |
| | | Single nucleotide variant (missense variant) | Hereditary breast ovarian cancer syndrome +8 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene