| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | X-linked severe combined immunodeficiency | |
| | | Single nucleotide variant (missense variant) | X-linked severe combined immunodeficiency | |
Click to view in NCBI Gene