| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Cleft palate +2 more | |
| | INPP1, LOC129935252 (Q24fs) | Deletion (frameshift variant) | Retinal disorder +1 more | |
| | | Single nucleotide variant (nonsense +2 more) | Global developmental delay +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinal disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Retinal disorder +1 more | |
Click to view in NCBI Gene