| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Neonatal pseudo-hydrocephalic progeroid syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +3 more | |
Click to view in NCBI Gene