| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Isolated microphthalmia 8 | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Isolated microphthalmia 8 | |
| | ALDH1A3, ALDH1A3-AS1 (A493P +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Isolated microphthalmia 8 | |
Click to view in NCBI Gene