Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Long QT syndrome +1 more | |
| | | Single nucleotide variant (splice donor variant) | Hereditary hearing loss and deafness | |
| | | Single nucleotide variant (missense variant) | Hearing loss, autosomal dominant 76 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Hereditary hearing loss and deafness +1 more | |
Click to view in NCBI Gene