| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 12 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Abnormality of the eye +2 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 12 +1 more | |
Click to view in NCBI Gene