| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Pendred syndrome +3 more | GPathogenic/Likely pathogenic |
| | SLC26A4, SLC26A4-AS1 (E29Q) | Single nucleotide variant (non-coding transcript variant +1 more) | Autosomal recessive nonsyndromic hearing loss 4 +4 more | GPathogenic/Likely pathogenic |
| | SLC26A4, SLC26A4-AS1 (E29G) | Single nucleotide variant (non-coding transcript variant +1 more) | Pendred syndrome +2 more | GConflicting classifications of pathogenicity |
| | SLC26A4, SLC26A4-AS1 (R43H) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +3 more | |
Click to view in NCBI Gene