| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Inflammatory skin and bowel disease, neonatal, 1 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Inflammatory skin and bowel disease, neonatal, 1 | |
Click to view in NCBI Gene