| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number gain | Microcephaly-digital anomalies-intellectual disability syndrome | |
| | | Deletion (frameshift variant) | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | |
Click to view in NCBI Gene