| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 28 +2 more | |
| | LOC112486209, LOC132090435
+1 more | Deletion (splice acceptor variant +1 more) | Developmental and epileptic encephalopathy, 28 | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 28 | |
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