| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 9 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene