| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Usher syndrome type 1F | |
| | | Duplication (frameshift variant) | Usher syndrome type 1F | |
| | | Duplication (splice donor variant) | Usher syndrome type 1F | |
| | | Single nucleotide variant (nonsense) | Usher syndrome type 1F +5 more | |
| | LOC105378311, PCDH15 (V44A +1 more) | Single nucleotide variant (missense variant +1 more) | Autosomal recessive nonsyndromic hearing loss 23 +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene