| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Early infantile epileptic encephalopathy with suppression bursts +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 76 | |
| | | Deletion (frameshift variant +1 more) | ACTL6B-related BAFopathy +2 more | GConflicting classifications of pathogenicity |
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