| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant +1 more) | Syndromic X-linked intellectual disability 34 | |
| | | Deletion (frameshift variant) | Syndromic X-linked intellectual disability 34 | |
| | | Deletion (frameshift variant) | Neurodevelopmental delay | |
| | | Single nucleotide variant (missense variant) | Mild global developmental delay | |
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