| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | Mowat-Wilson syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Mowat-Wilson syndrome | |
| | | Deletion (frameshift variant) | Mowat-Wilson syndrome | |
| | | Deletion (frameshift variant) | Mowat-Wilson syndrome | |
Click to view in NCBI Gene