| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Insertion (frameshift variant +1 more) | Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | |
| | | Deletion (nonsense +1 more) | Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | |
| | | Single nucleotide variant (nonsense +1 more) | Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities +1 more | GPathogenic/Likely pathogenic |
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