| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | MASA syndrome | |
| | | Single nucleotide variant (intron variant) | X-linked hydrocephalus syndrome | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (inframe_insertion) | X-linked hydrocephalus syndrome | |
Click to view in NCBI Gene