| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | EEF1A2, LOC132090595 (E164K) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 33 | |
| | EEF1A2, LOC132090595 (M155I) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 33 | |
Click to view in NCBI Gene