| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935164, LOC129935165 +697 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126806416, LOC126806417 +591 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126806421, LOC126806422 +17 more | Duplication | Dystonia 16 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +3 more | |
| | | Microsatellite (5 prime UTR variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified +4 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Dystonic disorder +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 59 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 59 | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 59 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 59 | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 59 | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 59 | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 59 | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 59 | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 59 | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 59 | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 59 | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 59 | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 59 | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 59 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Dystonic disorder +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | PJVK-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +1 more | |
| | | Duplication (frameshift variant +2 more) | Autosomal recessive nonsyndromic hearing loss 59 | |
| | | Single nucleotide variant (missense variant +2 more) | Hearing impairment | |
| | | Deletion (frameshift variant +2 more) | Autosomal recessive nonsyndromic hearing loss 59 | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Deafness +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Deafness +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive nonsyndromic hearing loss 59 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (nonsense +1 more) | 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 specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | PJVK-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Autosomal recessive nonsyndromic hearing loss 59 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive nonsyndromic hearing loss 59 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | beta Thalassemia +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive nonsyndromic hearing loss 59 | |
| | | Insertion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Autosomal recessive nonsyndromic hearing loss 59 +1 more | |
| | | Deletion (intron variant) | not provided | |