| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 16 | |
| | | Single nucleotide variant (splice acceptor variant) | Glutamine synthetase stabilization disorder +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 16 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 16 | |
| | | Single nucleotide variant (intron variant) | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome +3 more | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 16 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 16 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 16 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Deletion (frameshift variant) | Autosomal dominant nonsyndromic hearing loss 65 +6 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 16 +7 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 16 +9 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 16 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Caused by mutation in the TBC1 domain family, member 24 +4 more | GConflicting classifications of pathogenicity |
| | | | DOORS syndrome +2 more | |
| | | Duplication (frameshift variant) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +9 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +10 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 16 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +9 more | |
| | | Single nucleotide variant (missense variant) | Familial infantile myoclonic epilepsy +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome +10 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | not specified +9 more | |
| | | Single nucleotide variant (missense variant) | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | Rare genetic deafness +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Caused by mutation in the TBC1 domain family, member 24 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Abnormality of the nervous system +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +10 more | |
| | | Single nucleotide variant (synonymous variant) | Familial infantile myoclonic epilepsy +10 more | |
| | | Single nucleotide variant (intron variant) | Familial infantile myoclonic epilepsy +9 more | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 1 +7 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +4 more | |
| | | Microsatellite (intron variant) | Developmental and epileptic encephalopathy, 16 | |