| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | SLC26A4, SLC26A4-AS1 (M1I) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice donor variant) | Pendred syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Rare genetic deafness +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene