Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | Restrictive dermopathy 1 | |
| | | Single nucleotide variant (nonsense) | Restrictive dermopathy 1 +1 more | |
| | | Duplication (inframe_insertion) | Restrictive dermopathy 1 +1 more | |
| | | Duplication (splice donor variant) | Restrictive dermopathy 1 | |
| | | Duplication (frameshift variant) | Lethal tight skin contracture syndrome +4 more | |
Click to view in NCBI Gene