| | | Microsatellite (inframe_deletion) | not specified +1 more | |
| | | Microsatellite (inframe_deletion) | Developmental and epileptic encephalopathy, 4 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 4 | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Developmental and epileptic encephalopathy, 4 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 4 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 4 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 4 +3 more | GPathogenic/Likely pathogenic |
| | | Indel (frameshift variant) | Developmental and epileptic encephalopathy, 4 | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 4 | |
| | | Indel (frameshift variant +1 more) | Developmental and epileptic encephalopathy, 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability +1 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 4 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 4 +1 more | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Early infantile epileptic encephalopathy with suppression bursts +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 4 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 4 +4 more | |
| | | Indel (frameshift variant) | Developmental and epileptic encephalopathy, 4 | |
| | | Single nucleotide variant (splice donor variant) | Early infantile epileptic encephalopathy with suppression bursts +2 more | |