| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 2A +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Hypomyelination and Congenital Cataract | |
Click to view in NCBI Gene