Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Dominant congenital profound hearing loss +1 more | |
| | | Single nucleotide variant (missense variant) | Arrhinia with choanal atresia and microphthalmia syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Translocation | Intellectual disability +3 more | |
Click to view in NCBI Gene