| - GRCh37:
- ChrX:82763631-82763632
- GRCh38:
- ChrX:83508623-83508624
| POU3F4 | V101fs | X-linked mixed hearing loss with perilymphatic gusher | Pathogenic
(Feb 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:82764248
- GRCh38:
- ChrX:83509240
| POU3F4 | Q306* | X-linked mixed hearing loss with perilymphatic gusher | Pathogenic
(Nov 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:82764315
- GRCh38:
- ChrX:83509307
| POU3F4 | N328S | X-linked mixed hearing loss with perilymphatic gusher | Likely pathogenic
(Nov 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:82763552
- GRCh38:
- ChrX:83508544
| POU3F4 | S74fs | X-linked mixed hearing loss with perilymphatic gusher | not provided | no assertion provided |
| - GRCh37:
- ChrX:82764313
- GRCh38:
- ChrX:83509305
| POU3F4 | C327* | X-linked mixed hearing loss with perilymphatic gusher | not provided | no assertion provided |
| - GRCh37:
- ChrX:82764246
- GRCh38:
- ChrX:83509238
| POU3F4 | A305V | X-linked mixed hearing loss with perilymphatic gusher | Uncertain significance
(May 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:82763671-82763672
- GRCh38:
- ChrX:83508663-83508664
| POU3F4 | W114fs | X-linked mixed hearing loss with perilymphatic gusher | Pathogenic
(Aug 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:82764040-82764042
- GRCh38:
- ChrX:83509032-83509034
| POU3F4 | | X-linked mixed hearing loss with perilymphatic gusher | Benign
(Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797559
- GRCh38:
- Chr13:20223420
| GJB6 | G21R | Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B, X-linked mixed hearing loss with perilymphatic gusher,
Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1A, not provided
| Uncertain significance
(Dec 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:82763774
- GRCh38:
- ChrX:83508766
| POU3F4 | G148R | X-linked mixed hearing loss with perilymphatic gusher | Uncertain significance
(Oct 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:82764317
- GRCh38:
- ChrX:83509309
| POU3F4 | R329G | X-linked mixed hearing loss with perilymphatic gusher | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr13:20796606-20796607
- GRCh38:
- Chr13:20222467-20222468
| GJB6 | | not provided, Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B,
Autosomal recessive nonsyndromic hearing loss 1A, X-linked mixed hearing loss with perilymphatic gusher, Hidrotic ectodermal dysplasia syndrome
| Benign/Likely benign
(Sep 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:82763940-82763941
- GRCh38:
- ChrX:83508932-83508933
| POU3F4 | R204fs | X-linked mixed hearing loss with perilymphatic gusher | Pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:82764001
- GRCh38:
- ChrX:83508993
| POU3F4 | Y223* | X-linked mixed hearing loss with perilymphatic gusher | Pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:82763395-82763396
- GRCh38:
- ChrX:83508387-83508388
| POU3F4 | S22fs | X-linked mixed hearing loss with perilymphatic gusher | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr13:20763247
- GRCh38:
- Chr13:20189108
| GJB2 | | Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal dominant nonsyndromic hearing loss 3A, Mutilating keratoderma, Knuckle pads, deafness AND leukonychia syndrome,
Palmoplantar keratoderma-deafness syndrome, X-linked mixed hearing loss with perilymphatic gusher, not provided
| Likely benign
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763526
- GRCh38:
- Chr13:20189387
| GJB2 | | not provided, Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A, Mutilating keratoderma,
Knuckle pads, deafness AND leukonychia syndrome, Palmoplantar keratoderma-deafness syndrome, X-linked mixed hearing loss with perilymphatic gusher
| Likely benign
(Jun 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763395
- GRCh38:
- Chr13:20189256
| GJB2 | G109E | not specified, Hearing impairment, Autosomal dominant nonsyndromic hearing loss 3A,
Mutilating keratoderma, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Ichthyosis, hystrix-like, with hearing loss,
Palmoplantar keratoderma-deafness syndrome, Autosomal recessive nonsyndromic hearing loss 1A, X-linked mixed hearing loss with perilymphatic gusher,
Knuckle pads, deafness AND leukonychia syndrome | Uncertain significance
(Jun 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:82764715
- GRCh38:
- ChrX:83509707
| POU3F4 | | X-linked mixed hearing loss with perilymphatic gusher | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:82764440
- GRCh38:
- ChrX:83509432
| POU3F4 | | X-linked mixed hearing loss with perilymphatic gusher, not provided | Benign/Likely benign
(Feb 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:82763917
- GRCh38:
- ChrX:83508909
| POU3F4 | | X-linked mixed hearing loss with perilymphatic gusher | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:82763862
- GRCh38:
- ChrX:83508854
| POU3F4 | S177L | X-linked mixed hearing loss with perilymphatic gusher | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:82763723
- GRCh38:
- ChrX:83508715
| POU3F4 | L131F | X-linked mixed hearing loss with perilymphatic gusher | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763721
- GRCh38:
- Chr13:20189582
| GJB2 | | Mutilating 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 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,
Autosomal dominant nonsyndromic hearing loss 3A, Ichthyosis, hystrix-like, with hearing loss ...see more | Uncertain significance
(Feb 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20762925
- GRCh38:
- Chr13:20188786
| GJB2 | | Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Autosomal recessive nonsyndromic hearing loss 1A, Knuckle pads, deafness AND leukonychia syndrome,
Mutilating keratoderma, Ichthyosis, hystrix-like, with hearing loss, Palmoplantar keratoderma-deafness syndrome,
X-linked mixed hearing loss with perilymphatic gusher, Autosomal dominant nonsyndromic hearing loss 3A, Ichthyosis, hystrix-like, with hearing loss,
Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A ...see more | Uncertain significance
(Jul 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797224
- GRCh38:
- Chr13:20223085
| 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,
Hidrotic ectodermal dysplasia syndrome | Benign/Likely benign
(Feb 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:82763356
- GRCh38:
- ChrX:83508348
| POU3F4 | | X-linked mixed hearing loss with perilymphatic gusher | Likely benign
(Mar 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763145
- GRCh38:
- Chr13:20189006
| GJB2 | V193fs | Nonsyndromic genetic hearing loss, not provided, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,
Autosomal recessive nonsyndromic hearing loss 1A, 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 | Pathogenic
(Apr 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:82763502
- GRCh38:
- ChrX:83508494
| POU3F4 | W57* | X-linked mixed hearing loss with perilymphatic gusher | Pathogenic
(Feb 26, 2019) | no assertion criteria provided |
| - GRCh37:
- ChrX:82764307
- GRCh38:
- ChrX:83509299
| POU3F4 | W325* | X-linked mixed hearing loss with perilymphatic gusher | Pathogenic
(Sep 10, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763707
- GRCh38:
- Chr13:20189568
| GJB2 | T5M | 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,
Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher, not provided
| Uncertain significance
(Oct 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:82763578-82763579
- GRCh38:
- ChrX:83508570-83508571
| POU3F4 | G84fs | X-linked mixed hearing loss with perilymphatic gusher | Pathogenic
(May 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763633
- GRCh38:
- Chr13:20189494
| GJB2 | I30V | not specified, Ichthyosis, hystrix-like, with hearing loss, 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, Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher,
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 | Ichthyosis, hystrix-like, with hearing loss, 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,
Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher, Autosomal recessive nonsyndromic hearing loss 1A,
not provided | Pathogenic/Likely pathogenic
(Aug 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763626
- GRCh38:
- Chr13:20189487
| GJB2 | R32L | 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, not provided,
Nonsyndromic genetic hearing loss | Pathogenic/Likely pathogenic
(Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763044
- GRCh38:
- Chr13:20188905
| GJB2 | V226G | Nonsyndromic genetic hearing loss | Uncertain significance
(Sep 14, 2018) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr13:20763134
- GRCh38:
- Chr13:20188995
| GJB2 | I196T | Ichthyosis, hystrix-like, with hearing loss, Palmoplantar keratoderma-deafness syndrome, Knuckle pads, deafness AND leukonychia syndrome,
Autosomal recessive nonsyndromic hearing loss 1A, Mutilating keratoderma, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,
Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher, not provided,
Autosomal recessive nonsyndromic hearing loss 1A, not specified ...see more | Uncertain significance
(Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763209
- GRCh38:
- Chr13:20189070
| GJB2 | A171V | Ichthyosis, hystrix-like, with hearing loss, Palmoplantar keratoderma-deafness syndrome, Knuckle pads, deafness AND leukonychia syndrome,
Autosomal recessive nonsyndromic hearing loss 1A, Mutilating keratoderma, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,
Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher, not specified
| Uncertain significance
(Mar 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797441
- GRCh38:
- Chr13:20223302
| GJB6 | C60F | not provided, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal dominant nonsyndromic hearing loss 3B, X-linked mixed hearing loss with perilymphatic gusher, Hidrotic ectodermal dysplasia syndrome
| Uncertain significance
(Sep 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:82764209
- GRCh38:
- ChrX:83509201
| POU3F4 | L293V | X-linked mixed hearing loss with perilymphatic gusher | Pathogenic
(Mar 4, 2017) | no assertion criteria provided |
| - GRCh37:
- ChrX:82764177
- GRCh38:
- ChrX:83509169
| POU3F4 | R282L | not provided, X-linked mixed hearing loss with perilymphatic gusher | Conflicting interpretations of pathogenicity
(Feb 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20763744
- GRCh38:
- Chr13:20189605
| GJB2 | | Nonsyndromic genetic hearing loss | Likely pathogenic
(Apr 28, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- ChrX:82764610
- GRCh38:
- ChrX:83509602
| POU3F4 | | X-linked mixed hearing loss with perilymphatic gusher | Uncertain significance
(Jul 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:82764559
- GRCh38:
- ChrX:83509551
| POU3F4 | | X-linked mixed hearing loss with perilymphatic gusher | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:82764523
- GRCh38:
- ChrX:83509515
| POU3F4 | | X-linked mixed hearing loss with perilymphatic gusher | Likely benign
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:82764459
- GRCh38:
- ChrX:83509451
| POU3F4 | | X-linked mixed hearing loss with perilymphatic gusher | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:82764085
- GRCh38:
- ChrX:83509077
| POU3F4 | | not specified, X-linked mixed hearing loss with perilymphatic gusher | Benign/Likely benign
(Feb 27, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763215
- GRCh38:
- Chr13:20189076
| GJB2 | C169Y | not provided, 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, Knuckle pads, deafness AND leukonychia syndrome, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,
Autosomal recessive nonsyndromic hearing loss 1A | Pathogenic
(Jun 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:82763567
- GRCh38:
- ChrX:83508559
| POU3F4 | Q79* | X-linked mixed hearing loss with perilymphatic gusher | Pathogenic
(Feb 19, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr13:20763321
- GRCh38:
- Chr13:20189182
| GJB2 | W134R | Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A, Mutilating keratoderma,
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome, Knuckle pads, deafness AND leukonychia syndrome,
X-linked mixed hearing loss with perilymphatic gusher, Autosomal recessive nonsyndromic hearing loss 1A, not specified
| Uncertain significance
(May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:82763935-82763938
- GRCh38:
- ChrX:83508927-83508930
| POU3F4 | Q203fs | Rare genetic deafness, X-linked mixed hearing loss with perilymphatic gusher | Pathogenic
(Apr 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797319
- GRCh38:
- Chr13:20223180
| GJB6 | E101K | X-linked mixed hearing loss with perilymphatic gusher, Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B,
Autosomal dominant nonsyndromic hearing loss 3B | Uncertain significance
(Feb 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - 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:
- Chr13:20763209-20763210
- GRCh38:
- Chr13:20189070-20189071
| GJB2 | A171fs | 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, Mutilating keratoderma, 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, Ear malformation ...see more | Pathogenic/Likely pathogenic
(Dec 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763386-20763387
- GRCh38:
- Chr13:20189247-20189248
| GJB2 | K112fs | not provided, Autosomal recessive nonsyndromic hearing loss 1A, Mutilating keratoderma,
Ichthyosis, hystrix-like, with hearing loss, 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,
Knuckle pads, deafness AND leukonychia syndrome, Nonsyndromic genetic hearing lossRare genetic deafness,
Autosomal recessive nonsyndromic hearing loss 1A, ...see more | Pathogenic/Likely pathogenic
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763590
- GRCh38:
- Chr13:20189451
| GJB2 | W44* | Mutilating keratoderma, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome,
Knuckle pads, deafness AND leukonychia syndrome, Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A,
Ichthyosis, hystrix-like, with hearing loss, 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* | Autosomal recessive nonsyndromic hearing loss 1A, not provided, Mutilating keratoderma,
Ichthyosis, hystrix-like, with hearing loss, 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,
Knuckle pads, deafness AND leukonychia syndrome | Pathogenic
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:82764300
- GRCh38:
- ChrX:83509292
| POU3F4 | R323H | Rare genetic deafness | Likely pathogenic
(Jul 30, 2015) | criteria provided, single submitter |
| - GRCh37:
- ChrX:82763471
- GRCh38:
- ChrX:83508463
| POU3F4 | P47S | not specified, not provided, X-linked mixed hearing loss with perilymphatic gusher
| Benign/Likely benign
(Feb 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - 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 recessive nonsyndromic hearing loss 1A, Mutilating keratoderma, Ichthyosis, hystrix-like, with hearing loss,
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, Knuckle pads, deafness AND leukonychia syndrome,
not provided, not specified ...see more | Conflicting interpretations of pathogenicity
(Dec 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20763451-20763452
- GRCh38:
- Chr13:20189312-20189313
| GJB2 | V91fs | Autosomal recessive nonsyndromic hearing loss 1A, Nonsyndromic Deafness, 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, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome,
Knuckle pads, deafness AND leukonychia syndrome, Nonsyndromic genetic hearing lossnot provided,
Rare genetic deafness, ...see more | Pathogenic
(Oct 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20767115
- GRCh38:
- Chr13:20192976
| GJB2 | | Autosomal recessive nonsyndromic hearing loss 1A, Knuckle pads, deafness AND leukonychia syndrome, 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,
Mutilating keratoderma, Ichthyosis, hystrix-like, with hearing loss, 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,
Autosomal recessive nonsyndromic hearing loss 1A, Mutilating keratoderma, Ichthyosis, hystrix-like, with hearing loss,
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:
- ChrX:82764227
- GRCh38:
- ChrX:83509219
| POU3F4 | K299fs | X-linked mixed hearing loss with perilymphatic gusher | Pathogenic
(Feb 3, 1995) | no assertion criteria provided |
| - GRCh37:
- Chr13:20763712
- GRCh38:
- Chr13:20189573
| GJB2 | W3* | Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher,
Mutilating keratoderma, Knuckle pads, deafness AND leukonychia syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome, Rare genetic deafness,
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:
- Chr13:20763051
- GRCh38:
- Chr13:20188912
| GJB2 | K224Q | Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher,
Mutilating keratoderma, Knuckle pads, deafness AND leukonychia syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
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
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763058
- GRCh38:
- Chr13:20188919
| GJB2 | K221N | Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher,
Mutilating keratoderma, Knuckle pads, deafness AND leukonychia syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
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
(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 recessive nonsyndromic hearing loss 1A, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome,
not provided, Autosomal recessive nonsyndromic hearing loss 1BAutosomal recessive nonsyndromic hearing loss 1A,
Hearing impairment, Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 1A,
...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 recessive nonsyndromic hearing loss 1A,
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 |
| - GRCh37:
- Chr13:20763150
- GRCh38:
- Chr13:20189011
| GJB2 | F191L | not specified | Uncertain significance
(Sep 24, 2018) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr13:20763264
- GRCh38:
- Chr13:20189125
| GJB2 | V153I | 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 recessive nonsyndromic hearing loss 1A,
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome, Ichthyosis, hystrix-like, with hearing loss,
Autosomal recessive nonsyndromic hearing loss 1A, not specifiednot provided,
Nonsyndromic genetic hearing loss, Autosomal dominant nonsyndromic hearing loss 3A, ...see more | Benign/Likely benign
(Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763677
- GRCh38:
- Chr13:20189538
| GJB2 | K15T | Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher,
Mutilating keratoderma, Knuckle pads, deafness AND leukonychia syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome, Rare genetic deafness,
not provided, Autosomal recessive nonsyndromic hearing loss 1A ...see more | Pathogenic/Likely pathogenic
(Jul 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763305
- GRCh38:
- Chr13:20189166
| GJB2 | S139N | 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 recessive nonsyndromic hearing loss 1A, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome,
Ichthyosis, hystrix-like, with hearing loss, Autosomal recessive nonsyndromic hearing loss 1AAutosomal recessive nonsyndromic hearing loss 1B,
Autosomal recessive nonsyndromic hearing loss 1A, Hearing impairment, not provided,
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A, ...see more | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20763353
- GRCh38:
- Chr13:20189214
| GJB2 | T123N | Autosomal dominant nonsyndromic hearing loss 3A, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Ichthyosis, hystrix-like, with hearing loss, Palmoplantar keratoderma-deafness syndrome, X-linked mixed hearing loss with perilymphatic gusher,
Knuckle pads, deafness AND leukonychia syndrome, Mutilating keratoderma, not specified,
not provided, Ichthyosis, hystrix-like, with hearing lossAutosomal recessive nonsyndromic hearing loss 1A,
Autosomal dominant nonsyndromic hearing loss 3A, ...see more | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763687
- GRCh38:
- Chr13:20189548
| GJB2 | G12C | Nonsyndromic genetic hearing loss | Likely pathogenic
(Oct 19, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr13:20763380
- GRCh38:
- Chr13:20189241
| GJB2 | E114G | 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 recessive nonsyndromic hearing loss 1A,
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome, Ichthyosis, hystrix-like, with hearing loss,
not provided, not specifiedAutosomal 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 |
| - GRCh37:
- Chr13:20763421-20763422
- GRCh38:
- Chr13:20189282-20189283
| GJB2 | H100fs | 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 recessive nonsyndromic hearing loss 1A, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome,
Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1Anot provided,
Autosomal recessive nonsyndromic hearing loss 1A, ...see more | Pathogenic
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763438
- GRCh38:
- Chr13:20189299
| GJB2 | V95M | Rare genetic deafness, Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A,
Mutilating keratoderma, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Palmoplantar keratoderma-deafness syndrome, X-linked mixed hearing loss with perilymphatic gusher, Knuckle pads, deafness AND leukonychia syndrome,
Autosomal recessive nonsyndromic hearing loss 1A, Nonsyndromic genetic hearing lossnot provided,
Autosomal recessive nonsyndromic hearing loss 1A, Hearing impairment, ...see more | Pathogenic/Likely pathogenic
(Dec 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763442
- GRCh38:
- Chr13:20189303
| GJB2 | M93I | 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 recessive nonsyndromic hearing loss 1A, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Palmoplantar keratoderma-deafness syndrome,
not provided, Autosomal recessive nonsyndromic hearing loss 1A ...see more | Pathogenic/Likely pathogenic
(Jul 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763472
- GRCh38:
- Chr13:20189333
| GJB2 | F83L | Autosomal dominant nonsyndromic hearing loss 3A, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Ichthyosis, hystrix-like, with hearing loss, Palmoplantar keratoderma-deafness syndrome, X-linked mixed hearing loss with perilymphatic gusher,
Knuckle pads, deafness AND leukonychia syndrome, Mutilating keratoderma, 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 |
| - GRCh37:
- Chr13:20763720
- GRCh38:
- Chr13:20189581
| GJB2 | M1V | 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 recessive nonsyndromic hearing loss 1A, 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 |
| - GRCh37:
- Chr13:20763552
- GRCh38:
- Chr13:20189413
| GJB2 | Q57* | Mutilating keratoderma, Ichthyosis, hystrix-like, with hearing loss, 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, Autosomal dominant nonsyndromic hearing loss 3A, Rare genetic deafness,
not provided, Autosomal recessive nonsyndromic hearing loss 1A ...see more | Pathogenic
(Apr 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:82764185-82764186
- GRCh38:
- ChrX:83509177-83509178
| POU3F4 | I285fs | Rare genetic deafness | Pathogenic
(Jul 18, 2012) | criteria provided, single submitter |
| - GRCh37:
- ChrX:82764040
- GRCh38:
- ChrX:83509032
| POU3F4 | | not specified, not provided, X-linked mixed hearing loss with perilymphatic gusher
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:82764042
- GRCh38:
- ChrX:83509034
| POU3F4 | | not specified, not provided, X-linked mixed hearing loss with perilymphatic gusher
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:82764389
- GRCh38:
- ChrX:83509381
| POU3F4 | T354fs | X-linked mixed hearing loss with perilymphatic gusher | Pathogenic
(Feb 1, 2013) | no assertion criteria provided |
| - GRCh37:
- ChrX:82764280-82764281
- GRCh38:
- ChrX:83509272-83509273
| POU3F4 | L317fs | X-linked mixed hearing loss with perilymphatic gusher | Pathogenic
(Feb 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr13:20762929
- GRCh38:
- Chr13:20188790
| GJB2 | | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher,
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Mutilating keratoderma, Knuckle pads, deafness AND leukonychia syndrome,
Palmoplantar keratoderma-deafness syndrome, Ichthyosis, hystrix-like, with hearing loss, 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 |
| - GRCh37:
- Chr13:20763686
- GRCh38:
- Chr13:20189547
| GJB2 | G12V | Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher, Mutilating keratoderma,
Ichthyosis, hystrix-like, with hearing loss, Knuckle pads, deafness AND leukonychia syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Palmoplantar keratoderma-deafness syndrome, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Rare genetic deafness,
Nonsyndromic genetic hearing loss, not providedAutosomal 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 |
| - GRCh37:
- Chr13:20763471
- GRCh38:
- Chr13:20189332
| GJB2 | V84L | X-linked mixed hearing loss with perilymphatic gusher, Autosomal dominant nonsyndromic hearing loss 3A, Ichthyosis, hystrix-like, with hearing loss,
Mutilating keratoderma, Palmoplantar keratoderma-deafness syndrome, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,
Autosomal recessive nonsyndromic hearing loss 1A, Knuckle pads, deafness AND leukonychia syndrome, Rare genetic deafness,
Nonsyndromic genetic hearing loss, not providedAutosomal recessive nonsyndromic hearing loss 1A,
Hearing impairment, ...see more | Pathogenic
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20766921
- GRCh38:
- Chr13:20192782
| GJB2 | | Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher, Mutilating keratoderma,
Ichthyosis, hystrix-like, with hearing loss, Knuckle pads, deafness AND leukonychia syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Palmoplantar keratoderma-deafness syndrome, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Rare genetic deafness,
Autosomal recessive nonsyndromic hearing loss 1A, Nonsyndromic genetic hearing lossnot provided,
Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A,
Autosomal recessive nonsyndromic hearing loss 1A, Ear malformation, Hearing impairment,
...see more | Pathogenic/Likely pathogenic
(Apr 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763245
- GRCh38:
- Chr13:20189106
| GJB2 | D159V | 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 recessive nonsyndromic hearing loss 1A,
Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher, not specified,
not provided, Autosomal recessive nonsyndromic hearing loss 1A ...see more | Uncertain significance
(Apr 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763612
- GRCh38:
- Chr13:20189473
| GJB2 | V37I | Nonsyndromic genetic hearing loss | Pathogenic
(Jun 24, 2019) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr13:20763452
- GRCh38:
- Chr13:20189313
| GJB2 | L90P | Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher, Mutilating keratoderma,
Ichthyosis, hystrix-like, with hearing loss, Knuckle pads, deafness AND leukonychia syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Palmoplantar keratoderma-deafness syndrome, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Deafness,
Rare genetic deafness, Autosomal dominant nonsyndromic hearing loss 3AMutilating keratoderma,
Ichthyosis, hystrix-like, with hearing loss, Knuckle pads, deafness AND leukonychia syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Palmoplantar keratoderma-deafness syndrome, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Nonsyndromic genetic hearing loss,
not provided, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A,
Ichthyosis, hystrix-like, with hearing loss, Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A,
Mutilating keratoderma, Hearing impairment, See cases,
...see more | Conflicting interpretations of pathogenicity
(Nov 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20763486
- GRCh38:
- Chr13:20189347
| GJB2 | L79fs | Nonsyndromic genetic hearing loss | Pathogenic
(Sep 14, 2018) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr13:20763554
- GRCh38:
- Chr13:20189415
| GJB2 | L56fs | Nonsyndromic genetic hearing loss | Pathogenic
(Sep 19, 2018) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr13:20763294
- GRCh38:
- Chr13:20189155
| GJB2 | R143W | Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher, Mutilating keratoderma,
Ichthyosis, hystrix-like, with hearing loss, Knuckle pads, deafness AND leukonychia syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Palmoplantar keratoderma-deafness syndrome, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Rare genetic deafness,
Autosomal dominant nonsyndromic hearing loss 3A, Mutilating keratodermaIchthyosis, hystrix-like, with hearing loss,
Knuckle pads, deafness AND leukonychia syndrome, Autosomal recessive nonsyndromic hearing loss 1A, Palmoplantar keratoderma-deafness syndrome,
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Nonsyndromic genetic hearing loss, not provided,
Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A, Hearing impairment,
...see more | Pathogenic
(Feb 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763170
- GRCh38:
- Chr13:20189031
| GJB2 | R184P | Autosomal dominant nonsyndromic hearing loss 3A, X-linked mixed hearing loss with perilymphatic gusher, Mutilating keratoderma,
Ichthyosis, hystrix-like, with hearing loss, Knuckle pads, deafness AND leukonychia syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Palmoplantar keratoderma-deafness syndrome, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Rare genetic deafness,
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 | Conflicting interpretations of pathogenicity
(Oct 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20763361-20763363
- GRCh38:
- Chr13:20189222-20189224
| GJB2 | E120del | Rare genetic deafness, X-linked mixed hearing loss with perilymphatic gusher, Autosomal dominant nonsyndromic hearing loss 3A,
Ichthyosis, hystrix-like, with hearing loss, Palmoplantar keratoderma-deafness syndrome, Knuckle pads, deafness AND leukonychia syndrome,
Mutilating keratoderma, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Nonsyndromic genetic hearing loss, not providedAutosomal recessive nonsyndromic hearing loss 1A,
Hearing impairment, ...see more | Pathogenic
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |