| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Diencephalic-mesencephalic junction dysplasia syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (nonsense) | Diencephalic-mesencephalic junction dysplasia syndrome 1 | |
Click to view in NCBI Gene