| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 42 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Deletion (frameshift variant +1 more) | Autosomal recessive nonsyndromic hearing loss 42 +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene