| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Developmental and epileptic encephalopathy, 17 | |
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