| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Deletion (frameshift variant +1 more) | Developmental and epileptic encephalopathy, 38 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 38 | |
| | | Microsatellite (frameshift variant +1 more) | Developmental and epileptic encephalopathy, 38 | |
| | | Inversion (splice acceptor variant) | Developmental and epileptic encephalopathy, 38 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 38 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 38 | |
| | | Single nucleotide variant (splice acceptor variant) | Developmental and epileptic encephalopathy, 38 | |
| | | Deletion (splice donor variant) | Developmental and epileptic encephalopathy, 38 | |
| | | Deletion (frameshift variant +1 more) | Developmental and epileptic encephalopathy, 38 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 38 +1 more | |
| | | Duplication (frameshift variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Developmental and epileptic encephalopathy, 38 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | ARV1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Abnormality of the nervous system | |