| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Microphthalmia, isolated, with coloboma 5 +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Schizencephaly +5 more | |
| | | Single nucleotide variant (intron variant) | not specified +5 more | |
Click to view in NCBI Gene