| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Delayed speech and language development +2 more | |
| | | Deletion (frameshift variant) | Delayed speech and language development +3 more | |
| | | Microsatellite (frameshift variant) | not provided +4 more | |
| | | Duplication (frameshift variant) | Cerebral visual impairment and intellectual disability | |
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