| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | 3MC syndrome 1 | |
| | | Duplication (frameshift variant +2 more) | 3MC syndrome 1 | |
| | | Microsatellite (frameshift variant +1 more) | 3MC syndrome 1 | |
| | | Copy number loss | Cognitive impairment +1 more | |
Click to view in NCBI Gene