| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Microsatellite (inframe_insertion) | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies +2 more | |
| | | Indel (frameshift variant) | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | |
| | | Copy number gain | Small hand +6 more | |
Click to view in NCBI Gene