| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (nonsense) | RPE65-related recessive retinopathy | |
| | | Deletion (frameshift variant) | Achromatopsia 3 +5 more | |
| | | Deletion (nonsense +2 more) | Mucopolysaccharidosis, MPS-III-A +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Sanfilippo syndrome +2 more | |
Click to view in NCBI Gene