| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Rare genetic deafness +6 more | |
| | | Single nucleotide variant (missense variant) | Hearing impairment | |
| | | Single nucleotide variant (nonsense) | not provided +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene