| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Early infantile epileptic encephalopathy with suppression bursts +3 more | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 7 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | KCNQ2-related disorder +3 more | |
Click to view in NCBI Gene