| | | Single nucleotide variant (missense variant) | Partington syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Corpus callosum agenesis-abnormal genitalia syndrome | |
| | | Deletion (splice acceptor variant) | Corpus callosum agenesis-abnormal genitalia syndrome | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked, with or without seizures, arx-related +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Corpus callosum agenesis-abnormal genitalia syndrome | |
| | | Duplication (inframe_insertion) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Deletion (frameshift variant) | Corpus callosum agenesis-abnormal genitalia syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked, with or without seizures, arx-related +6 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Developmental and epileptic encephalopathy, 1 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, X-linked, with or without seizures, arx-related +6 more | |
| | | Duplication (inframe_insertion) | Intellectual disability, X-linked, with or without seizures, arx-related +5 more | |
| | | Single nucleotide variant (missense variant) | not provided | |