| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability 94 | |
| | | Single nucleotide variant (missense variant +1 more) | Syndromic X-linked intellectual disability 94 | |
| | | Copy number gain | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability 94 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
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