| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Oculogastrointestinal-neurodevelopmental syndrome | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Oculogastrointestinal-neurodevelopmental syndrome | |
| | | Copy number gain | Chromosome 16p13.3 duplication syndrome | |
Click to view in NCBI Gene