| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Generalized non-motor (absence) seizure +26 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Craniosynostosis syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia +14 more | |
| | | Complex | Heart, malformation of | |
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