| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Autosomal recessive nonsyndromic hearing loss 18A +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Autosomal recessive nonsyndromic hearing loss 18A | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Rare genetic deafness +5 more | |
Click to view in NCBI Gene