| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Nonsyndromic genetic hearing loss | |
| | | Duplication | Rare genetic deafness +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 3 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Rare genetic deafness +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Rare genetic deafness +3 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 3 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 3 +4 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Autosomal recessive nonsyndromic hearing loss 3 | |
| | | Microsatellite (inframe_deletion) | Autosomal recessive nonsyndromic hearing loss 3 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive nonsyndromic hearing loss 3 | |
Click to view in NCBI Gene