| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | 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 | |
| | | Single nucleotide variant (nonsense +1 more) | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene