| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number gain | Optic atrophy +4 more | |
| | | Copy number gain | Profound global developmental delay +4 more | |
| | | Single nucleotide variant (missense variant) | Ornithine aminotransferase deficiency +4 more | |
| | | Single nucleotide variant | Visual impairment +4 more | |
Click to view in NCBI Gene