| | | Single nucleotide variant (missense variant) | Hearing loss | |
| | | Duplication (inframe_insertion) | Hearing loss, autosomal recessive 116 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion | imperforated anus +10 more | |
| | | Single nucleotide variant (missense variant) | See cases +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hearing loss, autosomal dominant 78 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hearing loss, autosomal dominant 78 +1 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Hearing loss, autosomal dominant 78 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hearing loss, autosomal dominant 78 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hearing loss | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive nonsyndromic hearing loss 1A | |
| | | Single nucleotide variant (missense variant) | Hearing loss | |
| | | Single nucleotide variant (missense variant) | Hearing loss | |
| | | Single nucleotide variant (missense variant) | Mutilating keratoderma +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hearing loss +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth Neuropathy X +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Retinal dystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Nonsyndromic genetic hearing loss +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Rare genetic deafness | |
| | | Single nucleotide variant (5 prime UTR variant) | Rare genetic deafness +2 more | |
| | | Deletion (frameshift variant) | Nonsyndromic genetic hearing loss +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Duplication | Nonsyndromic Deafness +11 more | |
| | | Single nucleotide variant (missense variant) | Rare genetic deafness +3 more | GPathogenic/Likely pathogenic |
| | | Duplication | Hearing impairment +3 more | GPathogenic/Likely pathogenic |
| | | Indel | Autosomal recessive nonsyndromic hearing loss 1A +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 3A +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 1A +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Nonsyndromic genetic hearing loss | |
| | | Deletion | Hearing impairment +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +10 more | |
| | | Single nucleotide variant (missense variant) | MYO7A-related disorder +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Nonsyndromic genetic hearing loss | |
| | | Single nucleotide variant (splice donor variant) | Ichthyosis, hystrix-like, with hearing loss +15 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Mutilating keratoderma +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +14 more | GConflicting classifications of pathogenicity |
| | | Deletion | Nonsyndromic genetic hearing loss | |
| | | Single nucleotide variant (missense variant) | Hearing loss +1 more | |
| | | Deletion (frameshift variant) | Nonsyndromic genetic hearing loss | |
| | | Single nucleotide variant (missense variant) | Ichthyosis, hystrix-like, with hearing loss +12 more | |
| | | Single nucleotide variant (missense variant) | Nonsyndromic genetic hearing loss +10 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | not provided +11 more | |
| | | Single nucleotide variant (nonsense) | Ichthyosis, hystrix-like, with hearing loss +11 more | |
| | | Deletion | Nonsyndromic genetic hearing loss | |
| | | Single nucleotide variant (nonsense) | Nonsyndromic genetic hearing loss | |
| | | Single nucleotide variant (missense variant) | Nonsyndromic genetic hearing loss | |