| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Epithelial recurrent erosion dystrophy | |
| | | Single nucleotide variant (intron variant) | Epithelial recurrent erosion dystrophy | |
| | | Single nucleotide variant (nonsense) | Epithelial recurrent erosion dystrophy | |
| | | Single nucleotide variant (nonsense) | Epithelial recurrent erosion dystrophy | |
Click to view in NCBI Gene