| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 37 +1 more | |
| | | Deletion (inframe_deletion) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 37 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 37 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 37 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Developmental and epileptic encephalopathy, 37 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
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