Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Linear skin defects with multiple congenital anomalies 2 | |
| | | Single nucleotide variant (nonsense) | Linear skin defects with multiple congenital anomalies 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Linear skin defects with multiple congenital anomalies 2 | |
| | | Deletion (frameshift variant) | Linear skin defects with multiple congenital anomalies 2 | |
Click to view in NCBI Gene