| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Spastic paraplegia-severe developmental delay-epilepsy syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia-severe developmental delay-epilepsy syndrome | |
| | | Single nucleotide variant (nonsense +2 more) | Spastic paraplegia-severe developmental delay-epilepsy syndrome | |
| | | Microsatellite (inframe_deletion +2 more) | Spastic paraplegia-severe developmental delay-epilepsy syndrome | |
Click to view in NCBI Gene