| - GRCh38:
- Chr13:20222821-20531941
| LOC126861704, LOC126861705, MIR4499, CRYL1, GJB6, LOC112163647 | | Autosomal recessive nonsyndromic hearing loss 1B | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr13:20796834-21099933
| GJB6, CRYL1 | | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B | Uncertain significance
(Sep 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763040-20797619
| GJB6, GJB2 | | not provided, Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A,
Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1B | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797300
- GRCh38:
- Chr13:20223161
| GJB6 | R107K | Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A,
Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797604
- GRCh38:
- Chr13:20223465
| GJB6 | | Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1B,
Autosomal recessive nonsyndromic hearing loss 1A | Likely benign
(Jul 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797013
- GRCh38:
- Chr13:20222874
| GJB6 | M203L | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A,
Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797526
- GRCh38:
- Chr13:20223387
| GJB6 | R32* | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B,
Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Oct 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797444
- GRCh38:
- Chr13:20223305
| GJB6 | G59V | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B,
Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797026
- GRCh38:
- Chr13:20222887
| GJB6 | | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B,
Hidrotic ectodermal dysplasia syndrome, not provided | Likely benign
(Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797320
- GRCh38:
- Chr13:20223181
| GJB6 | | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B | Likely benign
(Jan 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20796867
- GRCh38:
- Chr13:20222728
| GJB6 | S251R | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B,
Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797162
- GRCh38:
- Chr13:20223023
| GJB6 | V153G | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B,
Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797397
- GRCh38:
- Chr13:20223258
| GJB6 | R75W | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B,
Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797162
- GRCh38:
- Chr13:20223023
| GJB6 | V153A | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B,
Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Oct 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797525
- GRCh38:
- Chr13:20223386
| GJB6 | R32Q | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B,
Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jul 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797192
- GRCh38:
- Chr13:20223053
| GJB6 | R143Q | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B | Uncertain significance
(Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797249
- GRCh38:
- Chr13:20223110
| GJB6 | Q124R | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A,
Hidrotic ectodermal dysplasia syndrome, not provided | Uncertain significance
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797297
- GRCh38:
- Chr13:20223158
| GJB6 | R108Q | Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1A, not provided | Uncertain significance
(May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - 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:
- 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 |
| | GJB6 | | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A,
Hidrotic ectodermal dysplasia syndrome | Pathogenic
(Jul 23, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797268
- GRCh38:
- Chr13:20223129
| GJB6 | I118V | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A,
Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797102
- GRCh38:
- Chr13:20222963
| GJB6 | P173L | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B,
Hidrotic ectodermal dysplasia syndrome, Inborn genetic diseases, not provided
| Uncertain significance
(Mar 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20803674-21030220
| CRYL1, GJB6 | | Autosomal recessive nonsyndromic hearing loss 1B | Pathogenic
(Apr 16, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr13:20797511
- GRCh38:
- Chr13:20223372
| GJB6 | V37M | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A,
Hidrotic ectodermal dysplasia syndrome, Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797408
- GRCh38:
- Chr13:20223269
| GJB6 | V71A | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A,
Hidrotic ectodermal dysplasia syndrome, not provided, Hidrotic ectodermal dysplasia syndrome
| Conflicting interpretations of pathogenicity
(Aug 31, 2021) | criteria provided, conflicting interpretations |
| - 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:
- Chr13:20797140
- GRCh38:
- Chr13:20223001
| GJB6 | | not provided, Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B,
Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome, Hidrotic ectodermal dysplasia syndrome
| Benign/Likely benign
(May 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797392
- GRCh38:
- Chr13:20223253
| GJB6 | W77fs | Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal recessive nonsyndromic hearing loss 1B, not provided | Uncertain significance
(Jan 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20796897
- GRCh38:
- Chr13:20222758
| GJB6 | | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B,
Hidrotic ectodermal dysplasia syndrome | Likely benign
(Jul 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797590
- GRCh38:
- Chr13:20223451
| GJB6 | | not provided, Autosomal recessive nonsyndromic hearing loss 1B, Hidrotic ectodermal dysplasia syndrome,
Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome
| Conflicting interpretations of pathogenicity
(Oct 14, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20797614
- GRCh38:
- Chr13:20223475
| GJB6 | | not provided, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B,
Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome | Likely benign
(Aug 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797262
- GRCh38:
- Chr13:20223123
| GJB6 | D120N | Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B,
Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome, not provided
| Benign/Likely benign
(Sep 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797319
- GRCh38:
- Chr13:20223180
| GJB6 | E101Q | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B | Uncertain significance
(Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20716100-21398980
- GRCh38:
- Chr13:20141961-20824841
| CRYL1, EEF1AKMT1, GJA3, GJB2, GJB6, IFT88, IL17D, LOC112163647, LOC121466728, LOC124849292, LOC126861703, LOC126861704, LOC126861705, MIR4499, XPO4 | | Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3B,
Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Aug 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20796989
- GRCh38:
- Chr13:20222850
| GJB6 | C211G | Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3B,
Hidrotic ectodermal dysplasia syndrome, not provided | Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797509
- GRCh38:
- Chr13:20223370
| GJB6 | | not provided, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B,
Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome | Conflicting interpretations of pathogenicity
(Jan 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20796839
- GRCh38:
- Chr13:20222700
| GJB6 | S261G | Autosomal recessive nonsyndromic hearing loss 1B, Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal dominant nonsyndromic hearing loss 3B, not provided | Uncertain significance
(Sep 20, 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:
- Chr13:20797501
- GRCh38:
- Chr13:20223362
| GJB6 | A40V | Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1A, not specified | Uncertain significance
(May 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797560
- GRCh38:
- Chr13:20223421
| GJB6 | | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B, Hidrotic ectodermal dysplasia syndrome | Conflicting interpretations of pathogenicity
(Jun 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20797557
- GRCh38:
- Chr13:20223418
| GJB6 | K22fs | GJB6-related disorders, Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A,
Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1B, not provided,
Hidrotic ectodermal dysplasia syndrome | Conflicting interpretations of pathogenicity
(Jun 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20797215
- GRCh38:
- Chr13:20223076
| GJB6 | | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B, not provided, not specified,
Hidrotic ectodermal dysplasia syndrome | Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20796940
- GRCh38:
- Chr13:20222801
| GJB6 | T227M | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B, Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20796925
- GRCh38:
- Chr13:20222786
| GJB6 | P232H | Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3B,
Hidrotic ectodermal dysplasia syndrome, not provided | Uncertain significance
(Aug 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20796948
- GRCh38:
- Chr13:20222809
| GJB6 | | not provided, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome, Hidrotic ectodermal dysplasia syndrome
| Conflicting interpretations of pathogenicity
(Jul 12, 2022) | criteria provided, conflicting interpretations |
| - 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:
- Chr13:20797443
- GRCh38:
- Chr13:20223304
| GJB6 | | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B,
Hidrotic ectodermal dysplasia syndrome, not provided, Hidrotic ectodermal dysplasia syndrome
| Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20797281
- GRCh38:
- Chr13:20223142
| GJB6 | N113K | Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal recessive nonsyndromic hearing loss 1B, not provided, not specified,
Hidrotic ectodermal dysplasia syndrome | Benign/Likely benign
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20796930-20796931
- GRCh38:
- Chr13:20222791-20222792
| GJB6 | N230fs | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B,
Hidrotic ectodermal dysplasia syndrome, not provided, not specified
| Conflicting interpretations of pathogenicity
(Feb 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20797001
- GRCh38:
- Chr13:20222862
| GJB6 | V207M | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A,
Hidrotic ectodermal dysplasia syndrome, not specified, Hidrotic ectodermal dysplasia syndrome
| Uncertain significance
(Jan 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797013
- GRCh38:
- Chr13:20222874
| GJB6 | M203V | not specified, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B,
Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome
| Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797025
- GRCh38:
- Chr13:20222886
| GJB6 | S199T | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B, not provided, not specified,
Hidrotic ectodermal dysplasia syndrome | Benign/Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797131
- GRCh38:
- Chr13:20222992
| GJB6 | | Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal dominant nonsyndromic hearing loss 3B, not specified, not provided,
Hidrotic ectodermal dysplasia syndrome | Conflicting interpretations of pathogenicity
(Jan 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20797144
- GRCh38:
- Chr13:20223005
| GJB6 | N159S | not provided, Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B,
Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome, not specified,
Hidrotic ectodermal dysplasia syndrome | Benign/Likely benign
(Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797605
- GRCh38:
- Chr13:20223466
| GJB6 | | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A,
Hidrotic ectodermal dysplasia syndrome, not provided, not specified,
Hidrotic ectodermal dysplasia syndrome | Conflicting interpretations of pathogenicity
(Mar 25, 2021) | criteria provided, conflicting interpretations |
| - 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:
- Chr13:20763276
- GRCh38:
- Chr13:20189137
| GJB2 | A149T | not specified, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal recessive nonsyndromic hearing loss 1A | Conflicting interpretations of pathogenicity
(Nov 15, 2022) | criteria provided, conflicting interpretations |
| - 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:
- Chr13:20763687
- GRCh38:
- Chr13:20189548
| GJB2 | G12C | Nonsyndromic genetic hearing loss | Likely pathogenic
(Oct 19, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr13:20763395-20763408
- GRCh38:
- Chr13:20189256-20189269
| GJB2 | K105fs | Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B,
Autosomal recessive nonsyndromic hearing loss 1A, Hearing impairment, not provided,
Nonsyndromic genetic hearing loss | Pathogenic/Likely pathogenic
(Dec 17, 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:
- Chr13:20766921
- 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:
- Chr13:20763612
- 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:
- Chr13:20763686
- GRCh38:
- Chr13:20189547
| GJB2 | G12fs | Nonsyndromic genetic hearing loss | Pathogenic
(Sep 20, 2018) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr13:20763492
- GRCh38:
- Chr13:20189353
| GJB2 | W77R | 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 recessive nonsyndromic hearing loss 1B,
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A,
Hearing impairment, ...see more | Pathogenic
(Dec 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763650
- GRCh38:
- Chr13:20189511
| GJB2 | W24* | Nonsyndromic genetic hearing loss | Pathogenic
(Sep 17, 2018) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr13:20763490
- GRCh38:
- Chr13:20189351
| GJB2 | W77* | not provided, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B,
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,
Palmoplantar keratoderma-deafness syndrome, X-linked mixed hearing loss with perilymphatic gusher, Knuckle pads, deafness AND leukonychia syndrome,
Ichthyosis, hystrix-like, with hearing loss, Mutilating keratodermaAutosomal recessive nonsyndromic hearing loss 1A,
Rare genetic deafness, ...see more | Pathogenic
(Apr 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20763620
- GRCh38:
- Chr13:20189481
| GJB2 | M34T | Nonsyndromic genetic hearing loss | Pathogenic
(Jun 24, 2019) | reviewed by expert panel
FDA Recognized Database |
| - GRCh38:
- Chr13:20223038-20531806
| CRYL1, GJB2, GJB6, LOC112163647, LOC126861704, LOC126861705, MIR4499 | | Autosomal recessive nonsyndromic hearing loss 1A, Deafness, digenic, GJB2/GJB6, Autosomal recessive nonsyndromic hearing loss 1B
| Pathogenic
(Aug 18, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr13:20797357
- GRCh38:
- Chr13:20223218
| GJB6 | A88V | Hidrotic ectodermal dysplasia syndrome, X-linked mixed hearing loss with perilymphatic gusher, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B
| Pathogenic
(Jan 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797589
- GRCh38:
- Chr13:20223450
| GJB6 | G11R | Autosomal recessive nonsyndromic hearing loss 1B, Hidrotic ectodermal dysplasia syndrome, X-linked mixed hearing loss with perilymphatic gusher,
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B,
Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3B,
not provided, Hidrotic ectodermal dysplasia syndrome ...see more | Pathogenic
(Dec 2, 2022) | criteria provided, multiple submitters, no conflicts |