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