| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability | |
| | | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Intellectual disability | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder, autosomal dominant 63, with macrocephaly +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder, autosomal dominant 63, with macrocephaly +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Intellectual disability +3 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_insertion +1 more) | Intellectual disability +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene