| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant +1 more) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Autosomal recessive nonsyndromic hearing loss 12 | |
| | | Duplication (frameshift variant) | Autosomal recessive nonsyndromic hearing loss 12 | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive nonsyndromic hearing loss 12 +2 more | |
Click to view in NCBI Gene