| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 87 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 87 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 87 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 87 | |
| | | Copy number gain | See cases | |
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