Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Sensorineural hearing loss disorder +20 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Sensorineural hearing loss disorder +22 more | |
| | | Single nucleotide variant (missense variant +1 more) | See cases +19 more | |
Click to view in NCBI Gene