| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Global developmental delay +5 more | |
| | SYNGAP1, SYNGAP1-AS1 (R687*) | Single nucleotide variant (nonsense) | Pointed chin +15 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Limb undergrowth +7 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental delay +17 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Syndromic X-linked intellectual disability Lubs type +15 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene