| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130002651, STXBP1 (M1K) | Single nucleotide variant (missense variant +3 more) | Developmental and epileptic encephalopathy, 4 | |
| | LOC130002651, STXBP1 (I4V) | Single nucleotide variant (missense variant +2 more) | Developmental and epileptic encephalopathy, 4 | |
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