| | | Copy number gain | See cases | |
| | | Deletion (splice donor variant +1 more) | Autosomal recessive nonsyndromic hearing loss 6 | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication | not specified | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive nonsyndromic hearing loss 6 | |
| | | Single nucleotide variant (intron variant +1 more) | Autosomal recessive nonsyndromic hearing loss 6 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive nonsyndromic hearing loss 6 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive nonsyndromic hearing loss 6 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive nonsyndromic hearing loss 6 | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive nonsyndromic hearing loss 6 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Indel (splice acceptor variant) | Autosomal recessive nonsyndromic hearing loss 6 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (5 prime UTR variant +1 more) | Autosomal recessive nonsyndromic hearing loss 6 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (5 prime UTR variant +1 more) | Autosomal recessive nonsyndromic hearing loss 6 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (5 prime UTR variant +1 more) | Autosomal recessive nonsyndromic hearing loss 6 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive nonsyndromic hearing loss 6 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive nonsyndromic hearing loss 6 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Autosomal recessive nonsyndromic hearing loss 6 | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 6 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Rare genetic deafness | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Sensorineural hearing loss disorder +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Rare genetic deafness | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 6 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Ear malformation | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Deletion (inframe_indel) | Hearing loss, autosomal recessive +1 more | |
| | | Duplication (frameshift variant) | not provided | |
| | | Microsatellite (inframe_insertion) | not provided +1 more | |
| | | Microsatellite (inframe_insertion) | Hearing loss, autosomal recessive +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 6 +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | not provided +1 more | |
| | | Microsatellite (inframe_deletion) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Indel (no sequence alteration) | not specified | |
| | | Microsatellite (inframe_deletion) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Indel | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 6 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |