| | | Single nucleotide variant (splice donor variant) | Developmental and epileptic encephalopathy, 18 | |
| | | Deletion (splice donor variant) | Developmental and epileptic encephalopathy, 18 +1 more | |
| | | Deletion (inframe_deletion) | Developmental and epileptic encephalopathy, 18 | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 18 | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 18 | |
| | | Single nucleotide variant (splice donor variant) | Developmental and epileptic encephalopathy, 18 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 18 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 18 | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 18 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 | |
| | SZT2, SZT2-AS1 (A3184E +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | | Duplication (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 18 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 | |
| | SZT2, SZT2-AS1 (K3157E +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Developmental and epileptic encephalopathy, 18 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 | |
| | SZT2, SZT2-AS1 (P3162H +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Developmental and epileptic encephalopathy, 18 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Developmental and epileptic encephalopathy, 18 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 +2 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 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Developmental and epileptic encephalopathy, 18 +2 more | |
| | SZT2, SZT2-AS1 (R3237Q +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Developmental and epileptic encephalopathy, 18 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 18 | |
| | SZT2, SZT2-AS1 (H3255Y +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (3 prime UTR variant +1 more) | Developmental and epileptic encephalopathy, 18 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 18 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 18 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 18 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 +2 more | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 18 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | SZT2, SZT2-AS1 (P3175A +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | SZT2-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 +1 more | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 18 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | 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) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 18 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 18 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 +2 more | |
| | | 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) | Developmental and epileptic encephalopathy, 18 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | SZT2-related disorder +3 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 18 +2 more | |