| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Linear skin defects with multiple congenital anomalies 3 | |
| | | Single nucleotide variant (missense variant) | Linear skin defects with multiple congenital anomalies 3 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Linear skin defects with multiple congenital anomalies 1 +3 more | |
Click to view in NCBI Gene