| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive nonsyndromic hearing loss 18A +3 more | |
| | | Duplication (frameshift variant +1 more) | Usher syndrome type 1C +6 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Rare genetic deafness +5 more | |
Click to view in NCBI Gene