| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | X-linked lissencephaly with abnormal genitalia | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 | |
| | | Microsatellite (inframe_insertion) | Inborn genetic diseases +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene