| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | BRF1, LOC130056677
+1 more (V20M) | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 66 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 66 | |
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