| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Autosomal recessive nonsyndromic hearing loss 16 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Deletion | Rare genetic deafness +1 more | |
Click to view in NCBI Gene