Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ENOSF1, TYMS (M179* +1 more) | Insertion (nonsense +1 more) | Dyskeratosis congenita | |
| | ENOSF1, TYMS (R163fs +1 more) | Deletion (frameshift variant +1 more) | Dyskeratosis congenita | |
| | ENOSF1, TYMS (Q160H +1 more) | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita | |
| | | Single nucleotide variant (nonsense +1 more) | Dyskeratosis congenita | |
Click to view in NCBI Gene