| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hogue-Janssens syndrome 1 | |
| | MEA1, PPP2R5D (E198K +3 more) | Single nucleotide variant (missense variant) | Neurodevelopmental delay +6 more | |
| | | Single nucleotide variant (missense variant) | Hogue-Janssens syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene