| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, childhood absence, susceptibility to, 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 43 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 | |
| | | Single nucleotide variant (nonsense) | Epilepsy, childhood absence, susceptibility to, 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, childhood absence, susceptibility to, 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 43 | |
| | | Single nucleotide variant (nonsense) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Epilepsy, childhood absence, susceptibility to, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Epilepsy, childhood absence, susceptibility to, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 43 +3 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 | |
| | | Microsatellite (inframe_deletion) | Developmental and epileptic encephalopathy, 43 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 | |
| | | Single nucleotide variant (missense variant) | Epilepsy, childhood absence, susceptibility to, 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 | |
| | | Deletion (frameshift variant +2 more) | Developmental and epileptic encephalopathy, 43 | |
| | | Single nucleotide variant (missense variant) | Epilepsy, childhood absence, susceptibility to, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 | |
| | | Single nucleotide variant (splice acceptor variant) | Developmental and epileptic encephalopathy, 43 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 43 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Epilepsy, childhood absence, susceptibility to, 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Epilepsy, childhood absence, susceptibility to, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Epilepsy, childhood absence, susceptibility to, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Epilepsy, childhood absence, susceptibility to, 5 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, childhood absence, susceptibility to, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, childhood absence, susceptibility to, 5 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Epilepsy, childhood absence, susceptibility to, 1 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 43 +3 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 43 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 43 +3 more | GConflicting classifications of pathogenicity |