| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | MEA1, PPP2R5D (E198K +3 more) | Single nucleotide variant (missense variant) | Neurodevelopmental delay +6 more | |
| | | Single nucleotide variant (missense variant) | Hogue-Janssens syndrome 1 | |
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