| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | |
| | | Single nucleotide variant (nonsense) | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | |
| | | Deletion (frameshift variant) | not provided | |
| | | Duplication (frameshift variant) | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | |
| | | Deletion (inframe_indel) | T-lymphocyte deficiency +1 more | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | |
| | | Deletion (frameshift variant) | T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant | |
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