| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 80 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 80 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 80 | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 80 | |
| | CCPG1, DNAAF4-CCPG1
+1 more (R532*) | Single nucleotide variant (non-coding transcript variant +2 more) | Developmental and epileptic encephalopathy, 80 | |
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