| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | KCNQ2-related disorder +4 more | |
| | | Single nucleotide variant (missense variant) | KCNQ2-related disorder | |
| | | Single nucleotide variant (missense variant) | Epilepsy, benign neonatal, 1, and/or myokymia | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | KCNQ2-related disorder +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +5 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 7 +1 more | |
| | | Single nucleotide variant (missense variant) | KCNQ2-related disorder | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 7 +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | KCNQ2-related disorder +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene