| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Curry-Hall syndrome +1 more | |
| | | Duplication (frameshift variant +1 more) | Curry-Hall syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Ellis-van Creveld syndrome +1 more | |
Click to view in NCBI Gene