| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication (frameshift variant) | not provided +3 more | |
| | | Duplication (frameshift variant) | Amelogenesis imperfecta type 1A +4 more | |
| | | Single nucleotide variant (splice donor variant) | Junctional epidermolysis bullosa gravis of Herlitz | |
Click to view in NCBI Gene