| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | SP9-associated disorder | |
| | | Single nucleotide variant (missense variant) | Abnormal caudate nucleus morphology +2 more | |
| | | Duplication (frameshift variant) | Autistic behavior +1 more | |
| | | Deletion (frameshift variant) | Convulsive status epilepticus +5 more | |
Click to view in NCBI Gene