| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 82 | |
| | LOC126862363, GOT2 (D147V +1 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 82 | |
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