| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (stop lost) | Usher syndrome type 2D +3 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 31 +2 more | |
| | | Single nucleotide variant (missense variant) | Usher syndrome type 2D +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hearing impairment +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Usher syndrome type 2D +2 more | |
| | | Duplication (5 prime UTR variant +1 more) | Usher syndrome type 2D +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 31 +3 more | |
Click to view in NCBI Gene