| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Narrow chest +18 more | |
| | | Copy number gain | Severe global developmental delay +7 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hydrocephalus +25 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Abnormal cardiovascular system morphology +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene