| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive nonsyndromic hearing loss 48 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Usher syndrome type 1J | |
Click to view in NCBI Gene