| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Microphthalmia, isolated, with coloboma 7 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Langereis blood group +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
Click to view in NCBI Gene