| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC125467768, PCDH19 (R794C +1 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 9 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 9 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability +1 more | |
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