| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Retinitis pigmentosa 39 +4 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Nonsyndromic genetic hearing loss +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 3A +12 more | |
| | | Deletion | Nonsyndromic genetic hearing loss | |
Click to view in NCBI Gene