| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 9 | |
| | | Deletion (frameshift variant) | Rare genetic deafness +4 more | |
| | | Single nucleotide variant (nonsense) | Nonsyndromic genetic hearing loss | |
Click to view in NCBI Gene