| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked, with or without seizures, arx-related +2 more | |
| | | Microsatellite (inframe_deletion) | Developmental and epileptic encephalopathy, 1 +3 more | GConflicting classifications of pathogenicity |
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