| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Intellectual disability, autosomal dominant 5 | |
| | SYNGAP1, SYNGAP1-AS1 (R272Q) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (intron variant) | SYNGAP1-related disorder +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene