| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Autosomal recessive nonsyndromic hearing loss 49 | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive nonsyndromic hearing loss 49 +1 more | |
| | | Deletion (splice donor variant) | Autosomal recessive nonsyndromic hearing loss 49 | |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Ear malformation +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene