Links from PubMed
Items: 7
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Deletion (nonsense +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | Rare genetic deafness | |
| | | Single nucleotide variant (nonsense +1 more) | Autosomal recessive nonsyndromic hearing loss 24 | |
| | | Duplication (frameshift variant +1 more) | Autosomal recessive nonsyndromic hearing loss 24 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 24 | |
Click to view in NCBI Gene