| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | AP3B2, CPEB1-AS1 (R21Q +3 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 48 +1 more | |
| | AP3B2, CPEB1-AS1 (P816S +2 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 48 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 48 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 48 | |
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