| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Okur-Chung neurodevelopmental syndrome | |
| | | Single nucleotide variant (missense variant) | Okur-Chung neurodevelopmental syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental delay +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Okur-Chung neurodevelopmental syndrome | |
| | | Deletion (frameshift variant +1 more) | Okur-Chung neurodevelopmental syndrome | |
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