| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked, with or without seizures, arx-related +3 more | |
| | | Microsatellite (inframe_insertion) | West syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
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