| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Noonan syndrome 4 +12 more | GPathogenic/Likely pathogenic |
| | SYNGAP1, SYNGAP1-AS1 (R687*) | Single nucleotide variant (nonsense) | Pointed chin +15 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene