Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases | |
| | | Deletion (3 prime UTR variant +1 more) | Inborn genetic diseases | |
Click to view in NCBI Gene