| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC123956210, SLC26A4 (G707R) | Single nucleotide variant (missense variant) | Pendred syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | LOC123956210, SLC26A4 (N712S) | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 4 +2 more | |
| | LOC123956210, SLC26A4 (H723R) | Single nucleotide variant (missense variant) | Rare genetic deafness +4 more | GPathogenic/Likely pathogenic |
| | LOC123956210, SLC26A4 (D724G) | Single nucleotide variant (missense variant) | SLC26A4-Related Disorders +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene