| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 11 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 2 +4 more | |
| | | Single nucleotide variant (missense variant) | Usher syndrome | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Nonsyndromic genetic hearing loss | |
| | | Single nucleotide variant (missense variant) | Meniere disease +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 11 +1 more | |
Click to view in NCBI Gene