| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 4 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | EAST syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | KCNJ10-related disorder +5 more | |
Click to view in NCBI Gene