| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | SYNGAP1, SYNGAP1-AS1 (R967* +1 more) | Single nucleotide variant (nonsense) | Intellectual disability, autosomal dominant 5 +1 more | |
| | SYNGAP1, SYNGAP1-AS1 (G1047fs +1 more) | Duplication (frameshift variant) | Intellectual disability, autosomal dominant 5 +1 more | |
| | SYNGAP1, SYNGAP1-AS1 (K1058fs +1 more) | Deletion (frameshift variant) | Intellectual disability, autosomal dominant 5 | |
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