| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion | Axenfeld-Rieger syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | Alazami-Yuan syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Deletion (splice acceptor variant) | Alazami-Yuan syndrome +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene