| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication (frameshift variant) | Autosomal recessive nonsyndromic hearing loss 1A +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 3A +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Rare genetic deafness +12 more | |
| | | Deletion (frameshift variant) | not provided +10 more | |
| | | Deletion | Nonsyndromic genetic hearing loss | |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Nonsyndromic genetic hearing loss | |
| | | Duplication | Autosomal recessive nonsyndromic hearing loss 1A +3 more | GPathogenic/Likely pathogenic |
| | | Deletion | Nonsyndromic genetic hearing loss | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive nonsyndromic hearing loss 1A +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive nonsyndromic hearing loss 1A +15 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene