| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (intron variant) | Epidermolysis bullosa, junctional 4, intermediate +2 more | |
| | | Single nucleotide variant (missense variant) | Epithelial recurrent erosion dystrophy +3 more | |
Click to view in NCBI Gene