| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | CELF2, CELF2-AS1 (R506G +21 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 97 | |
| | CELF2, CELF2-AS1 (P520S +21 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 97 | |
| | CELF2, CELF2-AS1 (Y280* +21 more) | Duplication (nonsense) | Developmental and epileptic encephalopathy 97 | |
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