| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (inframe_insertion) | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | |
| | | Single nucleotide variant (missense variant) | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | |
Click to view in NCBI Gene