| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Peeling skin syndrome 6 | |
| | | Single nucleotide variant (missense variant +1 more) | Acral peeling skin syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Hypotrichosis 1 | |
Click to view in NCBI Gene