| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Peeling skin syndrome 5 | |
| | | Single nucleotide variant (nonsense +3 more) | Peeling skin syndrome 5 +1 more | |
| | | Deletion (frameshift variant +3 more) | Peeling skin syndrome 5 | |
Click to view in NCBI Gene