| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Linear skin defects with multiple congenital anomalies 1 | |
| | | Single nucleotide variant (nonsense) | Linear skin defects with multiple congenital anomalies 1 | |
| | | Single nucleotide variant (missense variant) | HCCS-related disorder | |
Click to view in NCBI Gene