| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Copy number loss | Developmental and epileptic encephalopathy, 5 | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Duplication (frameshift variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (splice acceptor variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (splice acceptor variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 5 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 +1 more | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Duplication (inframe_insertion) | Developmental and epileptic encephalopathy, 5 | |
| | | Deletion (inframe_deletion) | Developmental and epileptic encephalopathy, 5 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Duplication (inframe_insertion) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | SPTAN1-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Duplication (nonsense) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Deletion (inframe_deletion) | Developmental and epileptic encephalopathy, 5 | |
| | | Deletion (inframe_deletion) | Developmental and epileptic encephalopathy, 5 | |
| | | Deletion (inframe_deletion) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +2 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 5 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Deletion (splice donor variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 5 | |
| | | 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, 5 | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +2 more | |
| | | Indel (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Deletion | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts +2 more | |
| | | Microsatellite (inframe_deletion) | Early infantile epileptic encephalopathy with suppression bursts +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 +3 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion) | Developmental and epileptic encephalopathy, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |