| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Developmental and epileptic encephalopathy, 76 +7 more | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (splice donor variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 54 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +4 more) | Temtamy syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Seizure +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | HEXA-related condition +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant) | Optic atrophy 9 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | MECP2-related condition +8 more | |
Click to view in NCBI Gene