| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 1 | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 1 | |
| | | Copy number gain | Klinefelter syndrome | |
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