| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion | Axenfeld-Rieger syndrome type 1 | |
| | LOC129992968, LOC129992986
+77 more | Deletion | Congenital aniridia | |
| | LOC110120703, LOC129992967
+1 more | Copy number loss | See cases | |
| | LOC129993082, LOC129993083
+661 more | Copy number gain | See cases | |
Click to view in NCBI Gene