| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice acceptor variant +1 more) | Autosomal recessive nonsyndromic hearing loss 16 | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive nonsyndromic hearing loss 16 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Rare genetic deafness +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene