| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 18 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 +2 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, 18 +1 more | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 18 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | SZT2, SZT2-AS1 (R3202* +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | SZT2, SZT2-AS1 (R3210W +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | SZT2, SZT2-AS1 (R3241C +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | SZT2, SZT2-AS1 (K3257R +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Developmental and epileptic encephalopathy, 18 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Deletion (3 prime UTR variant +1 more) | Developmental and epileptic encephalopathy, 18 | |