| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Linear porokeratosis | |
| | | Single nucleotide variant (missense variant) | Linear porokeratosis | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Porokeratosis 1, Mibelli type +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene