| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (nonsense) | not provided +1 more | |
| | | Deletion (frameshift variant) | Intellectual disability | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion) | Developmental and epileptic encephalopathy 94 +1 more | |
| | | Microsatellite (frameshift variant) | Developmental and epileptic encephalopathy 94 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Intellectual disability | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy 94 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Intellectual disability | |
| | | Single nucleotide variant (nonsense) | Intellectual disability +1 more | |
Click to view in NCBI Gene