| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +1 more) | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | TRIO-related condition +2 more | |
| | | Deletion (frameshift variant +1 more) | Intellectual developmental disorder, autosomal dominant 63, with macrocephaly +1 more | |
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