Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex +9 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +10 more | |
Click to view in NCBI Gene