| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Severe combined immunodeficiency disease +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (no sequence alteration +1 more) | not provided +1 more | |
Click to view in NCBI Gene