| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | T-B+ severe combined immunodeficiency due to JAK3 deficiency | |
| | | Deletion (intron variant) | T-B+ severe combined immunodeficiency due to JAK3 deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | T-B+ severe combined immunodeficiency due to JAK3 deficiency | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene