Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Aplasia cutis-enamel dysplasia syndrome | |
| | | Deletion (frameshift variant) | Aplasia cutis-enamel dysplasia syndrome | |
| | | Deletion (frameshift variant) | Aplasia cutis-enamel dysplasia syndrome | |
| | | Single nucleotide variant (nonsense) | Aplasia cutis-enamel dysplasia syndrome | |
| | | Single nucleotide variant (nonsense) | Aplasia cutis-enamel dysplasia syndrome | |
Click to view in NCBI Gene