| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Hamartoma of hypothalamus +5 more | |
| | | Deletion (frameshift variant) | Hamartoma of hypothalamus +5 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia +9 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Microcephaly +8 more | |
Click to view in NCBI Gene