| | ATP8A2, ATXN8OS +2048 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861801, LOC126861802 +2047 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861839, LOC126861840 +2045 more | Copy number gain | See cases | |
| | CRYL1, EEF1AKMT1 +116 more | Copy number gain | See cases | |
| | LOC130009480, LOC130009481 +488 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009372, LOC130009373 +181 more | Copy number loss | See cases | |
| | LOC124849292, LOC124849293 +2028 more | Copy number gain | See cases | |
| | LOC130009376, LOC130009377 +620 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009743, LOC130009744 +2024 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130009548, LOC130009549 +2024 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | Autosomal recessive nonsyndromic hearing loss 1B +3 more | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Hidrotic ectodermal dysplasia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Hidrotic ectodermal dysplasia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Hidrotic ectodermal dysplasia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Hidrotic ectodermal dysplasia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Hidrotic ectodermal dysplasia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Duplication (3 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 1B +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hidrotic ectodermal dysplasia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Hidrotic ectodermal dysplasia syndrome | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 1B +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 1A +3 more | |
| | | Single nucleotide variant (missense variant) | Hidrotic ectodermal dysplasia syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 1A +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Duplication (frameshift variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 1A +4 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 1B +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Hidrotic ectodermal dysplasia syndrome | |
| | | Deletion | Autosomal recessive nonsyndromic hearing loss 1B | |
| | | Copy number loss | See cases | Gconflicting data from submitters |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 1A +4 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 1A +4 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 3B +3 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 1A +3 more | |
| | | Single nucleotide variant (missense variant) | GJB6-related condition +5 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 1B +5 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 1A +4 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 1B +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 3B +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hidrotic ectodermal dysplasia syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 1B +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Nonsyndromic Deafness | |
| | | Single nucleotide variant (synonymous variant) | Hidrotic ectodermal dysplasia syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | GJB6-related condition +6 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 3B +3 more | |
| | | Single nucleotide variant (missense variant) | Hidrotic ectodermal dysplasia syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 3B +3 more | |
| | | Deletion | Autosomal recessive nonsyndromic hearing loss 1A +2 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 3B +3 more | |
| | | Single nucleotide variant (nonsense) | Autosomal dominant nonsyndromic hearing loss 3B +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | GJB6-related condition +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 3B +5 more | |
| | | Single nucleotide variant (synonymous variant) | Hidrotic ectodermal dysplasia syndrome | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 3B +3 more | |
| | | Deletion (frameshift variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 1A +4 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 3B +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 1A +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 3B +5 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 3B +3 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 3B +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (nonsense) | Nonsyndromic Deafness +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 1A +3 more | |
| | | Single nucleotide variant (missense variant) | Hidrotic ectodermal dysplasia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 3B +3 more | |