| - GRCh37:
- Chr13:20763245-20763246
- GRCh38:
- Chr13:20189106-20189107
| GJB2 | | Autosomal recessive nonsyndromic hearing loss 1A | Likely pathogenic
(Jun 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20796834-21099933
| CRYL1, GJB6 | | Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal recessive nonsyndromic hearing loss 1B | Uncertain significance
(Sep 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763040-20797619
| GJB2, GJB6 | | Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal recessive nonsyndromic hearing loss 1B | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797300
- GRCh38:
- Chr13:20223161
| GJB6 | R107K | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B | Uncertain significance
(Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797604
- GRCh38:
- Chr13:20223465
| GJB6 | | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A,
Hidrotic ectodermal dysplasia syndrome | Likely benign
(Jul 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797013
- GRCh38:
- Chr13:20222874
| GJB6 | M203L | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B | Uncertain significance
(Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797526
- GRCh38:
- Chr13:20223387
| GJB6 | R32* | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B | Uncertain significance
(Oct 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797444
- GRCh38:
- Chr13:20223305
| GJB6 | G59V | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B | Uncertain significance
(Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763322
- GRCh38:
- Chr13:20189183
| GJB2 | W133* | Autosomal recessive nonsyndromic hearing loss 1A | Pathogenic
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797026
- GRCh38:
- Chr13:20222887
| GJB6 | | Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal dominant nonsyndromic hearing loss 3B, not provided | Likely benign
(Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797320
- GRCh38:
- Chr13:20223181
| GJB6 | | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B,
Hidrotic ectodermal dysplasia syndrome | Likely benign
(Jan 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20796867
- GRCh38:
- Chr13:20222728
| GJB6 | S251R | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797162
- GRCh38:
- Chr13:20223023
| GJB6 | V153G | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B | Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797397
- GRCh38:
- Chr13:20223258
| GJB6 | R75W | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B | Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797162
- GRCh38:
- Chr13:20223023
| GJB6 | V153A | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A,
Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Oct 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797525
- GRCh38:
- Chr13:20223386
| GJB6 | R32Q | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A,
Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jul 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797192
- GRCh38:
- Chr13:20223053
| GJB6 | R143Q | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A,
Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797249
- GRCh38:
- Chr13:20223110
| GJB6 | Q124R | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A,
Hidrotic ectodermal dysplasia syndrome, not provided | Uncertain significance
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763595
- GRCh38:
- Chr13:20189456
| GJB2 | E42D | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 1A
| Conflicting interpretations of pathogenicity
(May 5, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20763136
- GRCh38:
- Chr13:20188997
| GJB2 | M195I | not provided, Autosomal recessive nonsyndromic hearing loss 1A | Conflicting interpretations of pathogenicity
(Oct 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20763472-20763474
- GRCh38:
- Chr13:20189333-20189335
| GJB2 | F83del | Autosomal recessive nonsyndromic hearing loss 1A | Likely pathogenic
(Sep 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797297
- GRCh38:
- Chr13:20223158
| GJB6 | R108Q | not provided, Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B | Uncertain significance
(May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797559
- GRCh38:
- Chr13:20223420
| GJB6 | G21R | not provided, Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome,
X-linked mixed hearing loss with perilymphatic gusher, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B
| Uncertain significance
(Dec 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763489
- GRCh38:
- Chr13:20189350
| GJB2 | A78T | Autosomal recessive nonsyndromic hearing loss 1A | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr13:20763564
- GRCh38:
- Chr13:20189425
| GJB2 | C53S | Autosomal recessive nonsyndromic hearing loss 1A | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr13:20763372
- GRCh38:
- Chr13:20189233
| GJB2 | D117Y | Autosomal recessive nonsyndromic hearing loss 1A | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763231
- GRCh38:
- Chr13:20189092
| GJB2 | Q164E | not provided | Uncertain significance
(Jul 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763639-20763642
- GRCh38:
- Chr13:20189500-20189503
| GJB2 | V27fs | Autosomal recessive nonsyndromic hearing loss 1A | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr13:20796606-20796607
- GRCh38:
- Chr13:20222467-20222468
| GJB6 | | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A,
Hidrotic ectodermal dysplasia syndrome, X-linked mixed hearing loss with perilymphatic gusher, not provided
| Benign/Likely benign
(Sep 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763275
- GRCh38:
- Chr13:20189136
| GJB2 | A149D | Autosomal recessive nonsyndromic hearing loss 1A | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr13:20763312
- GRCh38:
- Chr13:20189173
| GJB2 | T137P | Autosomal recessive nonsyndromic hearing loss 1A | Likely pathogenic
(Jul 1, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr13:20763247
- GRCh38:
- Chr13:20189108
| GJB2 | | Mutilating keratoderma, Ichthyosis, hystrix-like, with hearing loss, Palmoplantar keratoderma-deafness syndrome,
Knuckle pads, deafness AND leukonychia syndrome, Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher,
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, not provided
| Likely benign
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763526
- GRCh38:
- Chr13:20189387
| GJB2 | | not provided, Mutilating keratoderma, Ichthyosis, hystrix-like, with hearing loss,
Palmoplantar keratoderma-deafness syndrome, Knuckle pads, deafness AND leukonychia syndrome, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,
Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher, Autosomal recessive nonsyndromic hearing loss 1A
| Likely benign
(Jun 10, 2022) | criteria provided, multiple submitters, no conflicts |
| | GJB6 | | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A,
Hidrotic ectodermal dysplasia syndrome | Pathogenic
(Jul 23, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763395
- GRCh38:
- Chr13:20189256
| GJB2 | G109E | not specified, Hearing impairment, Autosomal recessive nonsyndromic hearing loss 1A,
Mutilating keratoderma, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Ichthyosis, hystrix-like, with hearing loss,
Palmoplantar keratoderma-deafness syndrome, Knuckle pads, deafness AND leukonychia syndrome, Autosomal dominant nonsyndromic hearing loss 3A,
X-linked mixed hearing loss with perilymphatic gusher, not provided ...see more | Uncertain significance
(Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763216
- GRCh38:
- Chr13:20189077
| GJB2 | C169R | Autosomal recessive nonsyndromic hearing loss 1A | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797268
- GRCh38:
- Chr13:20223129
| GJB6 | I118V | Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal recessive nonsyndromic hearing loss 1B | Uncertain significance
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763736
- GRCh38:
- Chr13:20189597
| GJB2 | | not provided, Autosomal recessive nonsyndromic hearing loss 1A | Uncertain significance
(Jan 3, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20767162
- GRCh38:
- Chr13:20193023
| GJB2 | | Autosomal recessive nonsyndromic hearing loss 1A | Uncertain significance
(Sep 11, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr13:20763399
- GRCh38:
- Chr13:20189260
| GJB2 | K108E | Autosomal recessive nonsyndromic hearing loss 1A | Uncertain significance
(Apr 17, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr13:20763036
- GRCh38:
- Chr13:20188897
| GJB2 | | Autosomal recessive nonsyndromic hearing loss 1A | Uncertain significance
(Sep 25, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr13:20797102
- GRCh38:
- Chr13:20222963
| GJB6 | P173L | Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B,
Autosomal dominant nonsyndromic hearing loss 3B, Inborn genetic diseases, not provided
| Uncertain significance
(Mar 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763749
- GRCh38:
- Chr13:20189610
| GJB2 | | not specified | Uncertain significance
(Jan 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763580-20763584
- GRCh38:
- Chr13:20189441-20189445
| GJB2 | D46fs | Autosomal recessive nonsyndromic hearing loss 1A | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr13:20763721
- GRCh38:
- Chr13:20189582
| GJB2 | | Ichthyosis, hystrix-like, with hearing loss, Autosomal recessive nonsyndromic hearing loss 1A, Knuckle pads, deafness AND leukonychia syndrome,
Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome, Mutilating keratoderma,
Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A ...see more | Uncertain significance
(Feb 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20762490
- GRCh38:
- Chr13:20188351
| GJB2 | | Ichthyosis, hystrix-like, with hearing loss, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763434
- GRCh38:
- Chr13:20189295
| GJB2 | A96G | Autosomal recessive nonsyndromic hearing loss 1A, Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763175
- GRCh38:
- Chr13:20189036
| GJB2 | | Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A, Ichthyosis, hystrix-like, with hearing loss,
not provided | Likely benign
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763164
- GRCh38:
- Chr13:20189025
| GJB2 | T186M | Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A, Ichthyosis, hystrix-like, with hearing loss
| Uncertain significance
(Jan 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20762925
- GRCh38:
- Chr13:20188786
| GJB2 | | Ichthyosis, hystrix-like, with hearing loss, Autosomal recessive nonsyndromic hearing loss 1A, Knuckle pads, deafness AND leukonychia syndrome,
Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome, Mutilating keratoderma,
Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A ...see more | Uncertain significance
(Jul 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20762804
- GRCh38:
- Chr13:20188665
| GJB2 | | Autosomal recessive nonsyndromic hearing loss 1A, Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A
| Uncertain significance
(Jan 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20762361
- GRCh38:
- Chr13:20188222
| GJB2 | | Autosomal recessive nonsyndromic hearing loss 1A, Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20762988
- GRCh38:
- Chr13:20188849
| GJB2 | | Ichthyosis, hystrix-like, with hearing loss, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20762732
- GRCh38:
- Chr13:20188593
| GJB2 | | Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A, Ichthyosis, hystrix-like, with hearing loss
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20762655
- GRCh38:
- Chr13:20188516
| GJB2 | | Autosomal recessive nonsyndromic hearing loss 1A, Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797511
- GRCh38:
- Chr13:20223372
| GJB6 | V37M | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B,
Hidrotic ectodermal dysplasia syndrome, Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797408
- GRCh38:
- Chr13:20223269
| GJB6 | V71A | not provided, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B,
Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome, Hidrotic ectodermal dysplasia syndrome
| Conflicting interpretations of pathogenicity
(Aug 31, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20767069
- GRCh38:
- Chr13:20192930
| GJB2 | | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A, not specified,
Ichthyosis, hystrix-like, with hearing loss | Uncertain significance
(Jan 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797224
- GRCh38:
- Chr13:20223085
| GJB6 | | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B,
X-linked mixed hearing loss with perilymphatic gusher, Hidrotic ectodermal dysplasia syndrome, not provided,
Hidrotic ectodermal dysplasia syndrome | Benign/Likely benign
(Feb 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797140
- GRCh38:
- Chr13:20223001
| GJB6 | | not provided, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B,
Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome, Hidrotic ectodermal dysplasia syndrome
| Benign/Likely benign
(May 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763547
- GRCh38:
- Chr13:20189408
| GJB2 | | Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A, Ichthyosis, hystrix-like, with hearing loss,
not provided | Conflicting interpretations of pathogenicity
(Mar 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20763525
- GRCh38:
- Chr13:20189386
| GJB2 | D66N | Ichthyosis, hystrix-like, with hearing loss, not specified, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal dominant nonsyndromic hearing loss 3A, not provided | Conflicting interpretations of pathogenicity
(Aug 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20762000
- GRCh38:
- Chr13:20187861
| GJB2 | | Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A, Ichthyosis, hystrix-like, with hearing loss
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797392
- GRCh38:
- Chr13:20223253
| GJB6 | W77fs | not provided, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B,
Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jan 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:35250704
- GRCh38:
- Chr1:34785103
| GJB3 | K115fs | Autosomal dominant nonsyndromic hearing loss 2B, Autosomal recessive nonsyndromic hearing loss 1A, Erythrokeratodermia variabilis et progressiva 1,
not provided | Uncertain significance
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763621
- GRCh38:
- Chr13:20189482
| GJB2 | M34L | not specified, not provided | Uncertain significance
(Nov 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763265
- GRCh38:
- Chr13:20189126
| GJB2 | | not provided | Likely benign
(Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763613
- GRCh38:
- Chr13:20189474
| GJB2 | | not provided | Likely benign
(Jul 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763046
- GRCh38:
- Chr13:20188907
| GJB2 | | not provided | Likely benign
(Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250613
- GRCh38:
- Chr1:34785012
| GJB3 | V84I | Erythrokeratodermia variabilis et progressiva 1, Autosomal dominant nonsyndromic hearing loss 2B, Autosomal recessive nonsyndromic hearing loss 1A,
not provided, Erythrokeratodermia variabilis et progressiva 1 | Benign/Likely benign
(Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20796897
- GRCh38:
- Chr13:20222758
| GJB6 | | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B | Likely benign
(Jul 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763544
- GRCh38:
- Chr13:20189405
| GJB2 | | not provided | Likely benign
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797590
- GRCh38:
- Chr13:20223451
| GJB6 | | Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal recessive nonsyndromic hearing loss 1B, not provided, Hidrotic ectodermal dysplasia syndrome
| Conflicting interpretations of pathogenicity
(Oct 14, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20797614
- GRCh38:
- Chr13:20223475
| GJB6 | | not provided, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B | Likely benign
(Aug 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:35250949
- GRCh38:
- Chr1:34785348
| GJB3 | A196T | Autosomal recessive nonsyndromic hearing loss 1A | Uncertain significance
(Oct 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797262
- GRCh38:
- Chr13:20223123
| GJB6 | D120N | Hidrotic ectodermal dysplasia syndrome, Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B, not provided
| Benign/Likely benign
(Sep 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797319
- GRCh38:
- Chr13:20223180
| GJB6 | E101Q | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B | Uncertain significance
(Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20716100-21398980
- GRCh38:
- Chr13:20141961-20824841
| LOC130009315, LOC130009316, LOC130009317, LOC130009318, LOC130009319, LOC130009320, LOC130009321, LOC130009322, LOC130009323, LOC130009324, LOC130009325, LOC130009326, LOC130009327, LOC130009328, LOC130009329, LOC132090175, MIR4499, XPO4, LOC126861704, CRYL1, EEF1AKMT1, GJA3, GJB2, GJB6, IFT88, IL17D, LOC112163647, LOC121466728, LOC124849292, LOC126861703, LOC126861705, LOC130009312, LOC130009313, LOC130009314 | | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B,
Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Aug 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763145
- GRCh38:
- Chr13:20189006
| GJB2 | V193fs | Nonsyndromic genetic hearing loss, not provided, Knuckle pads, deafness AND leukonychia syndrome,
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome,
Mutilating keratoderma, Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A,
X-linked mixed hearing loss with perilymphatic gusher | Pathogenic/Likely pathogenic
(Apr 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763563
- GRCh38:
- Chr13:20189424
| GJB2 | C53F | Autosomal recessive nonsyndromic hearing loss 1A | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763211
- GRCh38:
- Chr13:20189072
| GJB2 | | not specified, Ichthyosis, hystrix-like, with hearing loss, Autosomal recessive nonsyndromic hearing loss 1A,
not provided, Autosomal dominant nonsyndromic hearing loss 3A | Conflicting interpretations of pathogenicity
(Sep 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20763422
- GRCh38:
- Chr13:20189283
| GJB2 | H100L | not provided, Autosomal recessive nonsyndromic hearing loss 1A | Likely pathogenic
(Apr 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763684
- GRCh38:
- Chr13:20189545
| GJB2 | V13M | not specified, Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A,
Autosomal recessive nonsyndromic hearing loss 1A | Conflicting interpretations of pathogenicity
(Jul 26, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20763526
- GRCh38:
- Chr13:20189387
| GJB2 | Y65* | GJB2-Related Disorders, not provided | Pathogenic/Likely pathogenic
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763464
- GRCh38:
- Chr13:20189325
| GJB2 | T86R | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A, not provided,
Nonsyndromic genetic hearing loss, Ichthyosis, hystrix-like, with hearing loss | Conflicting interpretations of pathogenicity
(Jun 20, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:35250371
- GRCh38:
- Chr1:34784770
| GJB3 | W3* | Autosomal recessive nonsyndromic hearing loss 1A | Pathogenic
(Feb 26, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr13:20763115-20763116
- GRCh38:
- Chr13:20188976-20188977
| GJB2 | C202* | not provided, Autosomal dominant nonsyndromic hearing loss 3A | Pathogenic/Likely pathogenic
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763205
- GRCh38:
- Chr13:20189066
| GJB2 | W172C | Nonsyndromic genetic hearing loss | Pathogenic
(Jul 28, 2019) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr13:20763707
- GRCh38:
- Chr13:20189568
| GJB2 | T5M | Mutilating keratoderma, Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A,
X-linked mixed hearing loss with perilymphatic gusher, Autosomal recessive nonsyndromic hearing loss 1A, Palmoplantar keratoderma-deafness syndrome,
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Knuckle pads, deafness AND leukonychia syndrome, not provided
| Uncertain significance
(Oct 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763171
- GRCh38:
- Chr13:20189032
| GJB2 | R184W | Mutilating keratoderma, Autosomal recessive nonsyndromic hearing loss 1A, not provided
| Pathogenic
(Jun 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763247
- GRCh38:
- Chr13:20189108
| GJB2 | Y158* | Autosomal recessive nonsyndromic hearing loss 1A | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763671-20763672
- GRCh38:
- Chr13:20189532-20189533
| GJB2 | S17fs | Autosomal recessive nonsyndromic hearing loss 1A | Likely pathogenic
(May 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763207
- GRCh38:
- Chr13:20189068
| GJB2 | W172R | not provided, Autosomal recessive nonsyndromic hearing loss 1A | Conflicting interpretations of pathogenicity
(Sep 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20763458
- GRCh38:
- Chr13:20189319
| GJB2 | A88G | Autosomal recessive nonsyndromic hearing loss 1A | Uncertain significance
(Mar 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763393-20763394
- GRCh38:
- Chr13:20189254-20189255
| GJB2 | E110fs | Autosomal recessive nonsyndromic hearing loss 1A | Pathogenic
(Feb 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763588
- GRCh38:
- Chr13:20189449
| GJB2 | G45R | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 1A
| Conflicting interpretations of pathogenicity
(May 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20763235-20763276
- GRCh38:
- Chr13:20189096-20189137
| GJB2 | | Autosomal recessive nonsyndromic hearing loss 1A | Uncertain significance
(Feb 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763633
- GRCh38:
- Chr13:20189494
| GJB2 | I30V | Autosomal recessive nonsyndromic hearing loss 1A, Knuckle pads, deafness AND leukonychia syndrome, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,
Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher, Palmoplantar keratoderma-deafness syndrome,
Mutilating keratoderma, Ichthyosis, hystrix-like, with hearing loss, not specified,
Autosomal recessive nonsyndromic hearing loss 1A | Uncertain significance
(Sep 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763418-20763420
- GRCh38:
- Chr13:20189279-20189281
| GJB2 | E101del | Autosomal recessive nonsyndromic hearing loss 1A | Uncertain significance
(Jan 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763509
- GRCh38:
- Chr13:20189370
| GJB2 | I71T | Autosomal recessive nonsyndromic hearing loss 1A | Uncertain significance
(Dec 29, 2017) | criteria provided, single submitter |