| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cystic leukoencephalopathy without megalencephaly | |
| | | Single nucleotide variant (missense variant) | Cystic leukoencephalopathy without megalencephaly | |
| | | Microsatellite (inframe_deletion) | Cystic leukoencephalopathy without megalencephaly +1 more | |
| | | Single nucleotide variant (intron variant) | Cystic leukoencephalopathy without megalencephaly | |
| | | Single nucleotide variant | Cystic leukoencephalopathy without megalencephaly | |
Click to view in NCBI Gene