| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +2 more) | Autosomal recessive nonsyndromic hearing loss 23 | |
| | | Single nucleotide variant (nonsense +2 more) | Autosomal recessive nonsyndromic hearing loss 23 | |
| | | Deletion (frameshift variant +2 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 23 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 23 | |
Click to view in NCBI Gene