| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | X-linked lissencephaly with abnormal genitalia | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant) | ARX-related condition | |
| | | Single nucleotide variant (synonymous variant) | ARX-related condition | |
| | | Single nucleotide variant (3 prime UTR variant) | ARX-related condition | |
| | | Single nucleotide variant (synonymous variant) | ARX-related condition | |
| | | Single nucleotide variant (synonymous variant) | ARX-related condition | |
| | | Single nucleotide variant (missense variant) | ARX-related condition | |
| | | Single nucleotide variant (missense variant) | ARX-related condition | |
| | | Single nucleotide variant (synonymous variant) | ARX-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (frameshift variant) | Developmental and epileptic encephalopathy, 1 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Duplication (inframe_insertion) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Deletion (inframe_deletion) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Deletion (intron variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked, with or without seizures, arx-related +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked, with or without seizures, arx-related +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked, with or without seizures, arx-related +1 more | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, X-linked, with or without seizures, arx-related +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked, with or without seizures, arx-related +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked, with or without seizures, arx-related +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked, with or without seizures, arx-related +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked, with or without seizures, arx-related +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked, with or without seizures, arx-related +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked, with or without seizures, arx-related +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked, with or without seizures, arx-related +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked, with or without seizures, arx-related +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked, with or without seizures, arx-related +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked, with or without seizures, arx-related +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked, with or without seizures, arx-related +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked, with or without seizures, arx-related +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked, with or without seizures, arx-related +1 more | |
| | | Deletion (frameshift variant) | Intellectual disability, X-linked, with or without seizures, arx-related +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked, with or without seizures, arx-related +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +1 more | |