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Links from MedGen

Items: 72

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr13:20763197
GRCh38:
Chr13:20189058
GJB2P175RAutosomal dominant keratitis-ichthyosis-hearing loss syndromeLikely pathogenic
(Oct 1, 2021)		criteria provided, single submitter
2.
GRCh37:
Chr13:20763247
GRCh38:
Chr13:20189108
GJB2Mutilating 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
3.
GRCh37:
Chr13:20763526
GRCh38:
Chr13:20189387
GJB2not 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
4.
GRCh37:
Chr13:20763395
GRCh38:
Chr13:20189256
GJB2G109Enot 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
5.
GRCh37:
Chr13:20763721
GRCh38:
Chr13:20189582
GJB2Ichthyosis, 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
6.
GRCh37:
Chr13:20762925
GRCh38:
Chr13:20188786
GJB2Ichthyosis, 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
7.
GRCh37:
Chr13:20763145
GRCh38:
Chr13:20189006
GJB2V193fsNonsyndromic 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
8.
GRCh37:
Chr13:20763477
GRCh38:
Chr13:20189338
GJB2I82VAutosomal dominant keratitis-ichthyosis-hearing loss syndromeLikely pathogenic
(May 7, 2018)		no assertion criteria provided
9.
GRCh37:
Chr13:20763707
GRCh38:
Chr13:20189568
GJB2T5MMutilating 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
10.
GRCh37:
Chr13:20763633
GRCh38:
Chr13:20189494
GJB2I30VAutosomal 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
11.
GRCh37:
Chr13:20763627
GRCh38:
Chr13:20189488
GJB2R32SMutilating 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
12.
GRCh37:
Chr13:20763626
GRCh38:
Chr13:20189487
GJB2R32LMutilating keratoderma, Ichthyosis, hystrix-like, with hearing loss, Autosomal recessive nonsyndromic hearing loss 1A,
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 dominant keratitis-ichthyosis-hearing loss syndrome, Nonsyndromic genetic hearing loss,
not provided		Pathogenic/Likely pathogenic
(Jul 1, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr13:20763044
GRCh38:
Chr13:20188905
GJB2V226GNonsyndromic genetic hearing lossUncertain significance
(Sep 14, 2018)		reviewed by expert panel
FDA Recognized Database
14.
GRCh37:
Chr13:20763134
GRCh38:
Chr13:20188995
GJB2I196TAutosomal 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
15.
GRCh37:
Chr13:20763209
GRCh38:
Chr13:20189070
GJB2A171VAutosomal 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
16.
GRCh37:
Chr13:20763744
GRCh38:
Chr13:20189605
GJB2Nonsyndromic genetic hearing lossLikely pathogenic
(Apr 28, 2021)		reviewed by expert panel
FDA Recognized Database
17.
GRCh37:
Chr13:20763587
Chr13:20763313
GRCh38:
Chr13:20189448
Chr13:20189174
GJB2, GJB2G45E, Y136*Autosomal recessive nonsyndromic hearing loss 1APathogenic
(May 9, 2017)		criteria provided, single submitter
18.
GRCh37:
Chr13:20763215
GRCh38:
Chr13:20189076
GJB2C169Ynot 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
19.
GRCh37:
Chr13:20763321
GRCh38:
Chr13:20189182
GJB2W134RMutilating 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
20.
GRCh37:
Chr13:20763138
GRCh38:
Chr13:20188999
GJB2M195VNonsyndromic genetic hearing lossLikely pathogenic
(Jul 15, 2020)		reviewed by expert panel
FDA Recognized Database
21.
GRCh37:
Chr13:20763125
GRCh38:
Chr13:20188986
GJB2S199FRare 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, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A,
not provided		Pathogenic/Likely pathogenic
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr13:20763209-20763210
GRCh38:
Chr13:20189070-20189071
GJB2A171fsMutilating keratoderma, X-linked mixed hearing loss with perilymphatic gusher, Autosomal recessive nonsyndromic hearing loss 1A,
Ichthyosis, hystrix-like, with hearing loss, Knuckle pads, deafness AND leukonychia syndrome, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,
Palmoplantar keratoderma-deafness syndrome, Autosomal dominant nonsyndromic hearing loss 3A, 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
23.
GRCh37:
Chr13:20763386-20763387
GRCh38:
Chr13:20189247-20189248
GJB2K112fsRare 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
24.
GRCh37:
Chr13:20763590
GRCh38:
Chr13:20189451
GJB2W44*not provided, Autosomal recessive nonsyndromic hearing loss 1A, Inborn genetic diseases,
Autosomal recessive nonsyndromic hearing loss 1A, 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,
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome ...see more		Pathogenic/Likely pathogenic
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr13:20763430-20763431
GRCh38:
Chr13:20189291-20189292
GJB2Y97*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
26.
GRCh37:
Chr13:20763642
Chr13:20763380
GRCh38:
Chr13:20189503
Chr13:20189241
GJB2, GJB2V27I, E114Gnot specifiedBenign/Likely benign
(Apr 20, 2021)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr13:20763533
GRCh38:
Chr13:20189394
GJB2V63AAutosomal 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
28.
GRCh37:
Chr13:20763451-20763452
GRCh38:
Chr13:20189312-20189313
GJB2V91fsRare genetic deafness, not provided, Autosomal recessive nonsyndromic hearing loss 1A,
Nonsyndromic Deafness, Autosomal recessive nonsyndromic hearing loss 1A, 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, Autosomal dominant keratitis-ichthyosis-hearing loss syndromePalmoplantar keratoderma-deafness syndrome,
Nonsyndromic genetic hearing loss, ...see more		Pathogenic
(Oct 12, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr13:20767115
GRCh38:
Chr13:20192976
GJB2Autosomal 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
30.
GRCh37:
Chr13:20763342
GRCh38:
Chr13:20189203
GJB2R127CRare 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
31.
GRCh37:
Chr13:20763712
GRCh38:
Chr13:20189573
GJB2W3*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
32.
GRCh37:
Chr13:20763051
GRCh38:
Chr13:20188912
GJB2K224QMutilating 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
(Jan 24, 2023)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr13:20763058
GRCh38:
Chr13:20188919
GJB2K221NMutilating 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
34.
GRCh37:
Chr13:20763104
GRCh38:
Chr13:20188965
GJB2N206SRare genetic deafness, Mutilating keratoderma, Autosomal dominant nonsyndromic hearing loss 3A,
X-linked mixed hearing loss with perilymphatic gusher, 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,
Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 1BAutosomal recessive nonsyndromic hearing loss 1A,
not provided, Autosomal recessive nonsyndromic hearing loss 1A, Hearing impairment,
...see more		Pathogenic/Likely pathogenic
(May 24, 2023)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr13:20763113
GRCh38:
Chr13:20188974
GJB2I203TMutilating keratoderma, Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher,
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		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr13:20763150
GRCh38:
Chr13:20189011
GJB2F191Lnot specifiedUncertain significance
(Sep 24, 2018)		reviewed by expert panel
FDA Recognized Database
37.
GRCh37:
Chr13:20763243
GRCh38:
Chr13:20189104
GJB2G160SNonsyndromic Deafness, not specified, Nonsyndromic genetic hearing loss,
not provided, Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,
Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A		Conflicting interpretations of pathogenicity
(Mar 22, 2023)		criteria provided, conflicting interpretations
38.
GRCh37:
Chr13:20763264
GRCh38:
Chr13:20189125
GJB2V153IMutilating keratoderma, Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher,
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,
Nonsyndromic genetic hearing loss, not providedIchthyosis, hystrix-like, with hearing loss,
Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A, ...see more		Benign/Likely benign
(Oct 20, 2022)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr13:20763677
GRCh38:
Chr13:20189538
GJB2K15TAutosomal 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, Rare genetic deafness,
not provided, Autosomal recessive nonsyndromic hearing loss 1A ...see more		Pathogenic/Likely pathogenic
(Jun 1, 2023)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr13:20763305
GRCh38:
Chr13:20189166
GJB2S139NRare genetic deafness, Mutilating keratoderma, Autosomal dominant nonsyndromic hearing loss 3A,
X-linked mixed hearing loss with perilymphatic gusher, 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,
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1BAutosomal recessive nonsyndromic hearing loss 1A,
not provided, Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A,
Autosomal recessive nonsyndromic hearing loss 1A, Hearing impairment, ...see more		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
41.
GRCh37:
Chr13:20763353
GRCh38:
Chr13:20189214
GJB2T123NMutilating 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 provided,
not specified, Ichthyosis, hystrix-like, with hearing lossAutosomal dominant nonsyndromic hearing loss 3A,
Autosomal recessive nonsyndromic hearing loss 1A, ...see more		Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr13:20763687
GRCh38:
Chr13:20189548
GJB2G12CNonsyndromic genetic hearing lossLikely pathogenic
(Oct 19, 2022)		reviewed by expert panel
FDA Recognized Database
43.
GRCh37:
Chr13:20763380
GRCh38:
Chr13:20189241
GJB2E114GMutilating keratoderma, Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher,
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
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr13:20763421-20763422
GRCh38:
Chr13:20189282-20189283
GJB2H100fsRare genetic deafness, Mutilating keratoderma, Autosomal dominant nonsyndromic hearing loss 3A,
X-linked mixed hearing loss with perilymphatic gusher, 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, Autosomal recessive nonsyndromic hearing loss 1BAutosomal recessive nonsyndromic hearing loss 1A,
Autosomal recessive nonsyndromic hearing loss 1A, ...see more		Pathogenic
(Jun 2, 2023)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr13:20763438
GRCh38:
Chr13:20189299
GJB2V95MRare genetic deafness, Autosomal recessive nonsyndromic hearing loss 1A, Knuckle pads, deafness AND leukonychia syndrome,
Mutilating keratoderma, Ichthyosis, hystrix-like, with hearing loss, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome, 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, Hearing impairment, ...see more		Pathogenic/Likely pathogenic
(Aug 1, 2023)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr13:20763442
GRCh38:
Chr13:20189303
GJB2M93IRare genetic deafness, Mutilating keratoderma, Autosomal dominant nonsyndromic hearing loss 3A,
X-linked mixed hearing loss with perilymphatic gusher, 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,
Autosomal recessive nonsyndromic hearing loss 1A, not provided ...see more		Pathogenic/Likely pathogenic
(Jul 10, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr13:20763472
GRCh38:
Chr13:20189333
GJB2F83LMutilating 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,
Nonsyndromic genetic hearing loss, not providedIchthyosis, hystrix-like, with hearing loss,
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A, ...see more		Benign/Likely benign
(Oct 20, 2022)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr13:20763720
GRCh38:
Chr13:20189581
GJB2M1VRare genetic deafness, Mutilating keratoderma, Autosomal dominant nonsyndromic hearing loss 3A,
X-linked mixed hearing loss with perilymphatic gusher, 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, Autosomal recessive nonsyndromic hearing loss 1A ...see more		Pathogenic
(Sep 22, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr13:20763552
GRCh38:
Chr13:20189413
GJB2Q57*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,
not provided, Autosomal recessive nonsyndromic hearing loss 1A ...see more		Pathogenic
(Jun 2, 2023)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr13:20762929
GRCh38:
Chr13:20188790
GJB2Knuckle pads, deafness AND leukonychia syndrome, 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, not provided,
Ichthyosis, hystrix-like, with hearing loss, Autosomal recessive nonsyndromic hearing loss 1AAutosomal dominant nonsyndromic hearing loss 3A,
...see more		Benign
(Sep 30, 2021)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr13:20763686
GRCh38:
Chr13:20189547
GJB2G12VRare genetic deafness, Knuckle pads, deafness AND leukonychia syndrome, 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,
not provided, Nonsyndromic genetic hearing lossAutosomal dominant nonsyndromic hearing loss 3A,
Autosomal recessive nonsyndromic hearing loss 1A, Hearing impairment, ...see more		Pathogenic/Likely pathogenic
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr13:20763587
GRCh38:
Chr13:20189448
GJB2G45EAutosomal recessive nonsyndromic hearing loss 1A, not providedPathogenic/Likely pathogenic
(Sep 10, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr13:20763471
GRCh38:
Chr13:20189332
GJB2V84LRare genetic deafness, Palmoplantar keratoderma-deafness syndrome, Knuckle pads, deafness AND leukonychia syndrome,
Ichthyosis, hystrix-like, with hearing loss, Mutilating keratoderma, Autosomal recessive nonsyndromic hearing loss 1A,
X-linked mixed hearing loss with perilymphatic gusher, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Autosomal dominant nonsyndromic hearing loss 3A,
Nonsyndromic genetic hearing loss, not providedAutosomal recessive nonsyndromic hearing loss 1A,
Hearing impairment, ...see more		Pathogenic
(Jun 15, 2023)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr13:20766921
GRCh38:
Chr13:20192782
GJB2Rare genetic deafness, Knuckle pads, deafness AND leukonychia syndrome, 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,
Autosomal recessive nonsyndromic hearing loss 1A, Nonsyndromic genetic hearing lossAutosomal recessive nonsyndromic hearing loss 1A,
Autosomal recessive nonsyndromic hearing loss 1B, not provided, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal dominant nonsyndromic hearing loss 3A, Abnormality of the ear, Hearing impairment,
...see more		Pathogenic/Likely pathogenic
(Jun 2, 2023)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr13:20763573
GRCh38:
Chr13:20189434
GJB2D50YAutosomal dominant keratitis-ichthyosis-hearing loss syndromePathogenic
(Jan 1, 2004)		no assertion criteria provided
56.
GRCh37:
Chr13:20763245
GRCh38:
Chr13:20189106
GJB2D159VPalmoplantar keratoderma-deafness syndrome, Knuckle pads, deafness AND leukonychia syndrome, Ichthyosis, hystrix-like, with hearing loss,
Mutilating keratoderma, Autosomal recessive nonsyndromic hearing loss 1A, X-linked mixed hearing loss with perilymphatic gusher,
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Autosomal dominant nonsyndromic hearing loss 3A, not specified,
not provided, Autosomal recessive nonsyndromic hearing loss 1A ...see more		Uncertain significance
(Apr 27, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr13:20763612
GRCh38:
Chr13:20189473
GJB2V37INonsyndromic genetic hearing lossPathogenic
(Jun 24, 2019)		reviewed by expert panel
FDA Recognized Database
58.
GRCh37:
Chr13:20763671
GRCh38:
Chr13:20189532
GJB2S17FAutosomal dominant keratitis-ichthyosis-hearing loss syndromePathogenic
(May 1, 2002)		no assertion criteria provided
59.
GRCh37:
Chr13:20763687
GRCh38:
Chr13:20189548
GJB2G12RAutosomal dominant keratitis-ichthyosis-hearing loss syndromePathogenic
(May 1, 2002)		no assertion criteria provided
60.
GRCh37:
Chr13:20763573
GRCh38:
Chr13:20189434
GJB2D50NAutosomal dominant keratitis-ichthyosis-hearing loss syndrome, Ichthyosis, hystrix-like, with hearing loss, not provided,
Mutilating keratoderma		Pathogenic
(May 4, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr13:20763452
GRCh38:
Chr13:20189313
GJB2L90PRare genetic deafness, Knuckle pads, deafness AND leukonychia syndrome, 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,
Deafness, Knuckle pads, deafness AND leukonychia syndromeAutosomal recessive nonsyndromic hearing loss 1A,
Mutilating keratoderma, Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A,
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome, Nonsyndromic genetic hearing loss,
not provided, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B,
Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A,
Hearing impairment, See cases, ...see more		Pathogenic
(Jun 2, 2023)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr13:20763486
GRCh38:
Chr13:20189347
GJB2L79fsNonsyndromic genetic hearing lossPathogenic
(Sep 14, 2018)		reviewed by expert panel
FDA Recognized Database
63.
GRCh37:
Chr13:20763554
GRCh38:
Chr13:20189415
GJB2L56fsNonsyndromic genetic hearing lossPathogenic
(Sep 19, 2018)		reviewed by expert panel
FDA Recognized Database
64.
GRCh37:
Chr13:20763294
GRCh38:
Chr13:20189155
GJB2R143WRare genetic deafness, Knuckle pads, deafness AND leukonychia syndrome, 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 1AMutilating keratoderma,
Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,
Palmoplantar keratoderma-deafness syndrome, Nonsyndromic genetic hearing loss, not provided,
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A, Hearing impairment,
...see more		Pathogenic
(Sep 8, 2023)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr13:20763170
GRCh38:
Chr13:20189031
GJB2R184PRare genetic deafness, Knuckle pads, deafness AND leukonychia syndrome, 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,
not provided, Nonsyndromic genetic hearing lossIchthyosis, hystrix-like, with hearing loss,
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A, ...see more		Conflicting interpretations of pathogenicity
(Oct 9, 2022)		criteria provided, conflicting interpretations
66.
GRCh37:
Chr13:20763361-20763363
GRCh38:
Chr13:20189222-20189224
GJB2E120delRare genetic deafness, Autosomal recessive nonsyndromic hearing loss 1A, X-linked mixed hearing loss with perilymphatic gusher,
Ichthyosis, hystrix-like, with hearing loss, Mutilating keratoderma, Autosomal dominant nonsyndromic hearing loss 3A,
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome, Knuckle pads, deafness AND leukonychia syndrome,
not provided, Nonsyndromic genetic hearing lossAutosomal recessive nonsyndromic hearing loss 1A,
Hearing impairment, ...see more		Pathogenic
(Oct 31, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr13:20763582
GRCh38:
Chr13:20189443
GJB2E47*Rare genetic deafness, Knuckle pads, deafness AND leukonychia syndrome, 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,
not provided, Nonsyndromic genetic hearing lossAutosomal recessive nonsyndromic hearing loss 1A,
Hearing impairment, ...see more		Pathogenic
(Jun 2, 2023)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr13:20763686
GRCh38:
Chr13:20189547
GJB2G12fsNonsyndromic genetic hearing lossPathogenic
(Sep 20, 2018)		reviewed by expert panel
FDA Recognized Database
69.
GRCh37:
Chr13:20763492
GRCh38:
Chr13:20189353
GJB2W77RRare genetic deafness, Knuckle pads, deafness AND leukonychia syndrome, 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,
Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 1AAutosomal recessive nonsyndromic hearing loss 1B,
not provided, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A,
Hearing impairment, ...see more		Pathogenic
(Dec 8, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr13:20763650
GRCh38:
Chr13:20189511
GJB2W24*Nonsyndromic genetic hearing lossPathogenic
(Sep 17, 2018)		reviewed by expert panel
FDA Recognized Database
71.
GRCh37:
Chr13:20763490
GRCh38:
Chr13:20189351
GJB2W77*Rare genetic deafness, Palmoplantar keratoderma-deafness syndrome, Knuckle pads, deafness AND leukonychia syndrome,
Ichthyosis, hystrix-like, with hearing loss, Mutilating keratoderma, Autosomal recessive nonsyndromic hearing loss 1A,
X-linked mixed hearing loss with perilymphatic gusher, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Autosomal dominant nonsyndromic hearing loss 3A,
Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1Anot provided,
Autosomal recessive nonsyndromic hearing loss 1A, ...see more		Pathogenic
(Apr 4, 2023)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr13:20763620
GRCh38:
Chr13:20189481
GJB2M34TNonsyndromic genetic hearing lossPathogenic
(Jun 24, 2019)		reviewed by expert panel
FDA Recognized Database
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