| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (inframe_deletion) | B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | |
| | | Single nucleotide variant (missense variant) | B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | |
Click to view in NCBI Gene