| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion | Axenfeld-Rieger syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | Axenfeld-Rieger syndrome type 1 | |
| | | Deletion (frameshift variant) | Axenfeld-Rieger syndrome type 1 | |
| | | Deletion (frameshift variant) | Axenfeld-Rieger syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Axenfeld-Rieger syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Axenfeld-Rieger syndrome type 1 | |
| | | Deletion (frameshift variant) | Axenfeld-Rieger syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Axenfeld-Rieger syndrome type 1 | |
| | | Copy number loss | Axenfeld-Rieger syndrome type 1 | |
Click to view in NCBI Gene