| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number gain | Global developmental delay +4 more | |
| | | Copy number gain | Astigmatism +12 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 31 +8 more | |
| | | Single nucleotide variant (missense variant) | Astigmatism +12 more | |
Click to view in NCBI Gene