| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 50 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 50 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 50 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | LOC126806172, CAD (R2059H +1 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 50 +1 more | |
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