| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (inframe_deletion) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Axenfeld-Rieger syndrome type 3 +2 more | |
Click to view in NCBI Gene