| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +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 | |
| | | Single nucleotide variant (missense variant +1 more) | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | TRIO-Related Disorders +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | 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 | |
| | | Single nucleotide variant (missense variant +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 | |
| | | Duplication (frameshift variant +1 more) | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +1 more | GConflicting classifications of pathogenicity |
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