| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Isolated cryptophthalmia +4 more | |
| | | Single nucleotide variant (missense variant) | Isolated cryptophthalmia +4 more | |
| | | Single nucleotide variant (missense variant) | Fraser syndrome 2 +5 more | |
Click to view in NCBI Gene