| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 14 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nocturnal frontal lobe epilepsy 5 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 | |
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