| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy 94 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Deletion (intron variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Indel (frameshift variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Autistic behavior +3 more | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 +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 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 +1 more | |