| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | SYNGAP1, SYNGAP1-AS1 (R579*) | Single nucleotide variant (nonsense) | not provided +2 more | |
| | SYNGAP1, SYNGAP1-AS1 (R687*) | Single nucleotide variant (nonsense) | Pointed chin +15 more | GPathogenic/Likely pathogenic |
| | SYNGAP1, SYNGAP1-AS1 (R922* +1 more) | Single nucleotide variant (nonsense) | not provided +1 more | |
| | SYNGAP1, SYNGAP1-AS1 (G946E +1 more) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
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