| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Usher syndrome type 1D +2 more | |
| | | Single nucleotide variant (nonsense) | Retinal dystrophy +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 23 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Usher syndrome type 1F | |
Click to view in NCBI Gene