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