| - GRCh37:
- Chr13:20763521
- GRCh38:
- Chr13:20189382
| GJB2 | H67R | Autosomal dominant nonsyndromic hearing loss 3A, not specified | Uncertain significance
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - 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 |
| - 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:
- Chr13:20763721
- 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:
- Chr13:20767069
- 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:
- Chr13:20763547
- 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:
- Chr13:20763145
- 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:
- Chr13:20763211
- 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:
- Chr13:20763684
- 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:
- Chr13:20763464
- 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:
- 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:
- Chr13:20763594-20763596
- GRCh38:
- Chr13:20189455-20189457
| GJB2 | E42del | Autosomal dominant nonsyndromic hearing loss 3A | Pathogenic
(Nov 13, 2018) | criteria provided, single submitter |
| - 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:
- Chr13:20763633
- 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:
- Chr13:20763627
- GRCh38:
- Chr13:20189488
| GJB2 | R32S | Mutilating keratoderma, Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A,
Autosomal recessive nonsyndromic hearing loss 1A, X-linked mixed hearing loss with perilymphatic gusher, Palmoplantar keratoderma-deafness syndrome,
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Knuckle pads, deafness AND leukonychia syndrome, not provided,
Autosomal recessive nonsyndromic hearing loss 1A | Pathogenic/Likely pathogenic
(Sep 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763549
- GRCh38:
- Chr13:20189410
| GJB2 | P58S | Autosomal dominant nonsyndromic hearing loss 3A | Likely pathogenic
(Jan 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763626
- GRCh38:
- Chr13:20189487
| GJB2 | R32L | Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome, Ichthyosis, hystrix-like, with hearing loss,
Mutilating keratoderma, 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, Nonsyndromic genetic hearing loss,
not provided | Pathogenic/Likely pathogenic
(Oct 3, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763076
- GRCh38:
- Chr13:20188937
| GJB2 | R216fs | not provided, Rare genetic deafness | Likely pathogenic
(Jun 30, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763044
- GRCh38:
- Chr13:20188905
| GJB2 | V226G | Nonsyndromic genetic hearing loss | Uncertain significance
(Sep 26, 2023) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr13:20763134
- GRCh38:
- Chr13:20188995
| GJB2 | I196T | Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, 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,
Mutilating keratoderma, Ichthyosis, hystrix-like, with hearing loss, not specified,
not provided, Autosomal recessive nonsyndromic hearing loss 1A ...see more | Uncertain significance
(Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763209
- GRCh38:
- Chr13:20189070
| GJB2 | A171V | Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, 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,
Mutilating keratoderma, Ichthyosis, hystrix-like, with hearing loss, not specified
| Uncertain significance
(Mar 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763534
- GRCh38:
- Chr13:20189395
| GJB2 | V63L | not provided, not specified, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal dominant nonsyndromic hearing loss 3A | Conflicting interpretations of pathogenicity
(May 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20763661
- GRCh38:
- Chr13:20189522
| GJB2 | I20M | not provided, Autosomal dominant nonsyndromic hearing loss 3A, Ichthyosis, hystrix-like, with hearing loss,
Autosomal recessive nonsyndromic hearing loss 1A | Conflicting interpretations of pathogenicity
(Aug 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20763234
- GRCh38:
- Chr13:20189095
| GJB2 | M163L | Nonsyndromic genetic hearing loss | Uncertain significance
(Aug 4, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763549
- GRCh38:
- Chr13:20189410
| GJB2 | P58A | Autosomal dominant nonsyndromic hearing loss 3A | not provided | no assertion provided |
| - GRCh37:
- Chr13:20763557
- GRCh38:
- Chr13:20189418
| GJB2 | T55N | Autosomal dominant nonsyndromic hearing loss 3A | not provided | no assertion provided |
| - GRCh37:
- Chr13:20763585
- GRCh38:
- Chr13:20189446
| GJB2 | D46N | Autosomal dominant nonsyndromic hearing loss 3A | not provided | no assertion provided |
| - GRCh37:
- Chr13:20763744
- GRCh38:
- Chr13:20189605
| GJB2 | | Nonsyndromic genetic hearing loss | Likely pathogenic
(Apr 28, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr13:20763719
- GRCh38:
- Chr13:20189580
| GJB2 | M1T | Nonsyndromic genetic hearing loss | Likely pathogenic
(Feb 19, 2020) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr13:20763145-20763146
- GRCh38:
- Chr13:20189006-20189007
| GJB2 | T192fs | GJB2-related condition, Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A,
not provided | Pathogenic/Likely pathogenic
(Apr 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763662
- GRCh38:
- Chr13:20189523
| GJB2 | I20T | Nonsyndromic genetic hearing loss, not provided, Autosomal dominant nonsyndromic hearing loss 3A,
Autosomal recessive nonsyndromic hearing loss 1A | Pathogenic/Likely pathogenic
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763207
- GRCh38:
- Chr13:20189068
| GJB2 | W172fs | Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A, not provided
| Pathogenic/Likely pathogenic
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763587
- GRCh38:
- Chr13:20189448
| GJB2 | G45fs | Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A | Likely pathogenic
(Apr 27, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763282
- GRCh38:
- Chr13:20189143
| GJB2 | E147K | Rare genetic deafness, not specified, Nonsyndromic genetic hearing loss,
Autosomal recessive nonsyndromic hearing loss 1A, not provided, Autosomal dominant nonsyndromic hearing loss 3A
| Pathogenic/Likely pathogenic
(Jul 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763156-20763157
- GRCh38:
- Chr13:20189017-20189018
| GJB2 | K188fs | Rare genetic deafness, not provided, Autosomal dominant nonsyndromic hearing loss 3A,
Autosomal recessive nonsyndromic hearing loss 1A | Pathogenic/Likely pathogenic
(Jul 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763483
- GRCh38:
- Chr13:20189344
| GJB2 | Q80* | Nonsyndromic Deafness, Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A,
not provided | Pathogenic/Likely pathogenic
(Nov 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763480
- GRCh38:
- Chr13:20189341
| GJB2 | L81V | Autosomal recessive nonsyndromic hearing loss 1A, Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A
| Conflicting interpretations of pathogenicity
(Jan 2, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20762936
- GRCh38:
- Chr13:20188797
| GJB2 | | Autosomal recessive nonsyndromic hearing loss 1A, not provided, Ichthyosis, hystrix-like, with hearing loss,
Autosomal dominant nonsyndromic hearing loss 3A | Benign
(Jun 24, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20762926
- GRCh38:
- Chr13:20188787
| 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:
- Chr13:20762872
- GRCh38:
- Chr13:20188733
| GJB2 | | Autosomal recessive nonsyndromic hearing loss 1A, not provided, Ichthyosis, hystrix-like, with hearing loss,
Autosomal dominant nonsyndromic hearing loss 3A | Benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20762628
- GRCh38:
- Chr13:20188489
| 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:
- Chr13:20762617
- GRCh38:
- Chr13:20188478
| 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:
- Chr13:20762558
- GRCh38:
- Chr13:20188419
| 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:
- Chr13:20762496
- GRCh38:
- Chr13:20188357
| GJB2 | | Autosomal recessive nonsyndromic hearing loss 1A, Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20762442
- GRCh38:
- Chr13:20188303
| 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:
- Chr13:20762254
- GRCh38:
- Chr13:20188115
| GJB2 | | Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A
| Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20762240
- GRCh38:
- Chr13:20188101
| GJB2 | | Autosomal recessive nonsyndromic hearing loss 1A, Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20762109
- GRCh38:
- Chr13:20187970
| GJB2 | | Autosomal recessive nonsyndromic hearing loss 1A, Ichthyosis, hystrix-like, with hearing loss, not provided,
Autosomal dominant nonsyndromic hearing loss 3A | Benign
(May 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20762061
- GRCh38:
- Chr13:20187922
| 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:
- Chr13:20762024
- GRCh38:
- Chr13:20187885
| GJB2 | | Autosomal recessive nonsyndromic hearing loss 1A, Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A
| Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20762007
- GRCh38:
- Chr13:20187868
| GJB2 | | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A, Ichthyosis, hystrix-like, with hearing loss
| Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20761973
- GRCh38:
- Chr13:20187834
| GJB2 | | Autosomal recessive nonsyndromic hearing loss 1A, Ichthyosis, hystrix-like, with hearing loss, not provided,
Autosomal dominant nonsyndromic hearing loss 3A | Benign
(May 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20761888
- GRCh38:
- Chr13:20187749
| GJB2 | | not provided, Autosomal recessive nonsyndromic hearing loss 1A, Ichthyosis, hystrix-like, with hearing loss,
Autosomal dominant nonsyndromic hearing loss 3A | Benign
(May 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20761843
- GRCh38:
- Chr13:20187704
| GJB2 | | not provided, Autosomal recessive nonsyndromic hearing loss 1A, Ichthyosis, hystrix-like, with hearing loss,
Autosomal dominant nonsyndromic hearing loss 3A | Benign/Likely benign
(May 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20761834
- GRCh38:
- Chr13:20187695
| 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:
- Chr13:20761763
- GRCh38:
- Chr13:20187624
| GJB2 | | Autosomal recessive nonsyndromic hearing loss 1A, Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A
| Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763215
- GRCh38:
- Chr13:20189076
| GJB2 | C169Y | not provided, Autosomal recessive nonsyndromic hearing loss 1A, Mutilating keratoderma,
Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher,
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome, Knuckle pads, deafness AND leukonychia syndrome,
Autosomal recessive nonsyndromic hearing loss 1A | Pathogenic
(Jun 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763321
- GRCh38:
- Chr13:20189182
| GJB2 | W134R | Mutilating keratoderma, Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,
Palmoplantar keratoderma-deafness syndrome, Knuckle pads, deafness AND leukonychia syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher, not specified
| Uncertain significance
(May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763748
- GRCh38:
- Chr13:20189609
| GJB2 | | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A, Ichthyosis, hystrix-like, with hearing loss,
not specified, not provided | Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20763332
- GRCh38:
- Chr13:20189193
| GJB2 | G130A | Rare genetic deafness, Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A,
not provided | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:35226964
- GRCh38:
- Chr1:34761363
| GJB4 | V37M | not provided, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A
| Conflicting interpretations of pathogenicity
(Jun 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20763138
- GRCh38:
- Chr13:20188999
| GJB2 | M195V | Nonsyndromic genetic hearing loss | Likely pathogenic
(Jul 15, 2020) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr13:20763123
- GRCh38:
- Chr13:20188984
| GJB2 | G200R | not provided, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A,
Autosomal recessive nonsyndromic hearing loss 1A | Pathogenic/Likely pathogenic
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763601
- GRCh38:
- Chr13:20189462
| GJB2 | | not specified, not provided, Ichthyosis, hystrix-like, with hearing loss,
Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A | Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20763125
- GRCh38:
- Chr13:20188986
| GJB2 | S199F | GJB2-related condition, Rare genetic deafness, Mutilating keratoderma,
Knuckle pads, deafness AND leukonychia syndrome, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome,
Autosomal recessive nonsyndromic hearing loss 1A, Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A,
not provided, Autosomal recessive nonsyndromic hearing loss 1A ...see more | Pathogenic/Likely pathogenic
(Jun 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763209-20763210
- GRCh38:
- Chr13:20189070-20189071
| GJB2 | A171fs | Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher, Autosomal recessive nonsyndromic hearing loss 1A,
Knuckle pads, deafness AND leukonychia syndrome, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome,
Mutilating keratoderma, Ichthyosis, hystrix-like, with hearing loss, not provided,
Autosomal recessive nonsyndromic hearing loss 1A, Abnormality of the ear ...see more | Pathogenic/Likely pathogenic
(Jun 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763386-20763387
- GRCh38:
- Chr13:20189247-20189248
| GJB2 | K112fs | Rare genetic deafness, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome,
Knuckle pads, deafness AND leukonychia syndrome, 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,
Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 1AAutosomal recessive nonsyndromic hearing loss 1A,
not provided, ...see more | Pathogenic/Likely pathogenic
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763590
- GRCh38:
- Chr13:20189451
| GJB2 | W44* | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome,
Knuckle pads, deafness AND leukonychia syndrome, Ichthyosis, hystrix-like, with hearing loss, Mutilating keratoderma,
Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher, Inborn genetic diseases,
not provided, Autosomal recessive nonsyndromic hearing loss 1A ...see more | Pathogenic/Likely pathogenic
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763430-20763431
- GRCh38:
- Chr13:20189291-20189292
| GJB2 | Y97* | not provided, Knuckle pads, deafness AND leukonychia syndrome, 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, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal recessive nonsyndromic hearing loss 1A | Pathogenic
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763366
- GRCh38:
- Chr13:20189227
| GJB2 | E119K | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal dominant nonsyndromic hearing loss 3A, Ichthyosis, hystrix-like, with hearing loss | Conflicting interpretations of pathogenicity
(Jan 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20763642
- Chr13:20763380
- GRCh38:
- Chr13:20189503
- Chr13:20189241
| GJB2, GJB2 | V27I, E114G | not specified | Benign/Likely benign
(Apr 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763533
- GRCh38:
- Chr13:20189394
| GJB2 | V63A | Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher, Mutilating keratoderma,
Ichthyosis, hystrix-like, with hearing loss, Autosomal recessive nonsyndromic hearing loss 1A, Knuckle pads, deafness AND leukonychia syndrome,
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome, not specified,
not provided, Autosomal recessive nonsyndromic hearing loss 1A ...see more | Conflicting interpretations of pathogenicity
(Dec 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20763451-20763452
- GRCh38:
- Chr13:20189312-20189313
| GJB2 | V91fs | Rare genetic deafness, Nonsyndromic Deafness, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome, Knuckle pads, deafness AND leukonychia syndrome,
Ichthyosis, hystrix-like, with hearing loss, Mutilating keratoderma, Autosomal dominant nonsyndromic hearing loss 3A,
X-linked mixed hearing loss with perilymphatic gusher, Nonsyndromic genetic hearing lossnot provided,
Autosomal recessive nonsyndromic hearing loss 1A, ...see more | Pathogenic
(Oct 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763228
- GRCh38:
- Chr13:20189089
| GJB2 | R165W | Ichthyosis, hystrix-like, with hearing loss, not specified, Autosomal dominant nonsyndromic hearing loss 3A,
Autosomal recessive nonsyndromic hearing loss 1A, not provided | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20767115
- GRCh38:
- Chr13:20192976
| GJB2 | | Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher, Mutilating keratoderma,
Ichthyosis, hystrix-like, with hearing loss, Autosomal recessive nonsyndromic hearing loss 1A, Knuckle pads, deafness AND leukonychia syndrome,
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome, not specified,
not provided, Ichthyosis, hystrix-like, with hearing lossAutosomal dominant nonsyndromic hearing loss 3A,
Autosomal recessive nonsyndromic hearing loss 1A, ...see more | Benign/Likely benign
(Sep 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763342
- GRCh38:
- Chr13:20189203
| GJB2 | R127C | Rare genetic deafness, Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher,
Mutilating keratoderma, Ichthyosis, hystrix-like, with hearing loss, Autosomal recessive nonsyndromic hearing loss 1A,
Knuckle pads, deafness AND leukonychia syndrome, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome,
not provided | Pathogenic/Likely pathogenic
(Nov 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763071-20763074
- GRCh38:
- Chr13:20188932-20188935
| GJB2 | R216fs | Rare genetic deafness, Inborn genetic diseases, not provided,
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A, Hearing impairment
| Pathogenic/Likely pathogenic
(Jun 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763735
- GRCh38:
- Chr13:20189596
| GJB2 | | not specified, Nonsyndromic genetic hearing loss, not provided,
Ichthyosis, hystrix-like, with hearing loss, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A
| Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763712
- GRCh38:
- Chr13:20189573
| GJB2 | W3* | Rare genetic deafness, Mutilating keratoderma, Ichthyosis, hystrix-like, with hearing loss,
Knuckle pads, deafness AND leukonychia syndrome, 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, Autosomal dominant nonsyndromic hearing loss 3A,
Autosomal recessive nonsyndromic hearing loss 1A, Nonsyndromic genetic hearing lossnot provided,
Autosomal recessive nonsyndromic hearing loss 1A, ...see more | Pathogenic/Likely pathogenic
(Oct 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763626
- GRCh38:
- Chr13:20189487
| GJB2 | R32H | Rare genetic deafness, not provided, Autosomal dominant nonsyndromic hearing loss 3A,
Autosomal recessive nonsyndromic hearing loss 1A, GJB2-related condition | Pathogenic
(Jul 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763051
- GRCh38:
- Chr13:20188912
| GJB2 | K224Q | 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, Knuckle pads, deafness AND leukonychia syndrome,
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome, not specified,
not provided, Autosomal recessive nonsyndromic hearing loss 1A ...see more | Uncertain significance
(Aug 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763058
- GRCh38:
- Chr13:20188919
| GJB2 | K221N | Mutilating keratoderma, Ichthyosis, hystrix-like, with hearing loss, Knuckle pads, deafness AND leukonychia syndrome,
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, Autosomal dominant nonsyndromic hearing loss 3A, not specified,
not provided, Autosomal recessive nonsyndromic hearing loss 1A ...see more | Uncertain significance
(Jul 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763104
- GRCh38:
- Chr13:20188965
| GJB2 | N206S | Rare genetic deafness, Mutilating keratoderma, Ichthyosis, hystrix-like, with hearing loss,
Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher, Knuckle pads, deafness AND leukonychia syndrome,
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Nonsyndromic genetic hearing loss, not providedAutosomal recessive nonsyndromic hearing loss 1B,
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A, Hearing impairment,
...see more | Pathogenic/Likely pathogenic
(May 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763113
- GRCh38:
- Chr13:20188974
| GJB2 | I203T | Mutilating keratoderma, Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A,
X-linked mixed hearing loss with perilymphatic gusher, Knuckle pads, deafness AND leukonychia syndrome, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,
Palmoplantar keratoderma-deafness syndrome, Autosomal recessive nonsyndromic hearing loss 1A, not specified,
not provided, Autosomal recessive nonsyndromic hearing loss 1A ...see more | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763150
- GRCh38:
- Chr13:20189011
| GJB2 | F191L | not specified | Uncertain significance
(Sep 24, 2018) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr13:20763243
- GRCh38:
- Chr13:20189104
| GJB2 | G160S | Nonsyndromic Deafness, not specified, Nonsyndromic genetic hearing loss,
not provided, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Autosomal dominant nonsyndromic hearing loss 3A,
Ichthyosis, hystrix-like, with hearing loss, Autosomal recessive nonsyndromic hearing loss 1A | Conflicting interpretations of pathogenicity
(Mar 22, 2023) | criteria provided, conflicting interpretations |