| - GRCh37:
- Chr13:20796834-21099933
| CRYL1, GJB6 | | 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 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20763040-20797619
| GJB2, GJB6 | | not provided, 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 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797300
- GRCh38:
- Chr13:20223161
| GJB6 | R107K | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B | Uncertain significance
(Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797604
- GRCh38:
- Chr13:20223465
| GJB6 | | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A,
Hidrotic ectodermal dysplasia syndrome | Likely benign
(Jul 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797013
- GRCh38:
- Chr13:20222874
| GJB6 | M203L | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B | Uncertain significance
(Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797526
- GRCh38:
- Chr13:20223387
| GJB6 | R32* | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B | Uncertain significance
(Oct 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797444
- GRCh38:
- Chr13:20223305
| GJB6 | G59V | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B | Uncertain significance
(Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797027
- GRCh38:
- Chr13:20222888
| GJB6 | A198E | Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(May 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797026
- GRCh38:
- Chr13:20222887
| 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 | Likely benign
(Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797320
- GRCh38:
- Chr13:20223181
| GJB6 | | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B,
Hidrotic ectodermal dysplasia syndrome | Likely benign
(Jan 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20796867
- GRCh38:
- Chr13:20222728
| GJB6 | S251R | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797162
- GRCh38:
- Chr13:20223023
| GJB6 | V153G | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B | Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797397
- GRCh38:
- Chr13:20223258
| GJB6 | R75W | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B | Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797162
- GRCh38:
- Chr13:20223023
| GJB6 | V153A | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A,
Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Oct 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797525
- GRCh38:
- Chr13:20223386
| GJB6 | R32Q | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A,
Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jul 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797192
- GRCh38:
- Chr13:20223053
| GJB6 | R143Q | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A,
Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797249
- GRCh38:
- Chr13:20223110
| GJB6 | Q124R | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A,
Hidrotic ectodermal dysplasia syndrome, not provided | Uncertain significance
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797297
- GRCh38:
- Chr13:20223158
| GJB6 | R108Q | not provided, Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B | Uncertain significance
(May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797559
- GRCh38:
- Chr13:20223420
| GJB6 | G21R | not provided, Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome,
X-linked mixed hearing loss with perilymphatic gusher, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B
| Uncertain significance
(Dec 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20796606-20796607
- GRCh38:
- Chr13:20222467-20222468
| GJB6 | | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A,
Hidrotic ectodermal dysplasia syndrome, X-linked mixed hearing loss with perilymphatic gusher, not provided
| Benign/Likely benign
(Sep 30, 2021) | criteria provided, multiple submitters, no conflicts |
| | 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, Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal recessive nonsyndromic hearing loss 1B | Uncertain significance
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797102
- GRCh38:
- Chr13:20222963
| GJB6 | P173L | Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B,
Autosomal dominant nonsyndromic hearing loss 3B, Inborn genetic diseases, not provided
| Uncertain significance
(Mar 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20796878
- GRCh38:
- Chr13:20222739
| GJB6 | I248V | Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20796642
- GRCh38:
- Chr13:20222503
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20803809
- GRCh38:
- Chr13:20229670
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20803738
- GRCh38:
- Chr13:20229599
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Benign
(Jan 22, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20803736
- GRCh38:
- Chr13:20229597
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20796221
- GRCh38:
- Chr13:20222082
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797511
- GRCh38:
- Chr13:20223372
| GJB6 | V37M | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B,
Hidrotic ectodermal dysplasia syndrome, Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797408
- GRCh38:
- Chr13:20223269
| GJB6 | V71A | not provided, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B,
Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome, Hidrotic ectodermal dysplasia syndrome
| Conflicting interpretations of pathogenicity
(Aug 31, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20797309
- GRCh38:
- Chr13:20223170
| GJB6 | R104H | not provided, Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jan 3, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20805173
- GRCh38:
- Chr13:20231034
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20805154
- GRCh38:
- Chr13:20231015
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797227
- GRCh38:
- Chr13:20223088
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797224
- GRCh38:
- Chr13:20223085
| GJB6 | | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B,
X-linked mixed hearing loss with perilymphatic gusher, Hidrotic ectodermal dysplasia syndrome, not provided,
Hidrotic ectodermal dysplasia syndrome | Benign/Likely benign
(Feb 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797140
- GRCh38:
- Chr13:20223001
| GJB6 | | not provided, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B,
Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome, Hidrotic ectodermal dysplasia syndrome
| Benign/Likely benign
(May 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797392
- GRCh38:
- Chr13:20223253
| GJB6 | W77fs | not provided, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B,
Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jan 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20796897
- GRCh38:
- Chr13:20222758
| GJB6 | | Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal recessive nonsyndromic hearing loss 1B | Likely benign
(Jul 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797590
- GRCh38:
- Chr13:20223451
| GJB6 | | Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal recessive nonsyndromic hearing loss 1B, not provided, Hidrotic ectodermal dysplasia syndrome
| Conflicting interpretations of pathogenicity
(Oct 14, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20797614
- GRCh38:
- Chr13:20223475
| GJB6 | | not provided, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B | Likely benign
(Aug 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797262
- GRCh38:
- Chr13:20223123
| GJB6 | D120N | Hidrotic ectodermal dysplasia syndrome, Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B, not provided
| Benign/Likely benign
(Sep 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797319
- GRCh38:
- Chr13:20223180
| GJB6 | E101Q | Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal recessive nonsyndromic hearing loss 1B | Uncertain significance
(Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20716100-21398980
- GRCh38:
- Chr13:20141961-20824841
| LOC124849292, LOC126861703, MIR4499, XPO4, LOC126861704, LOC126861705, CRYL1, EEF1AKMT1, GJA3, GJB2, GJB6, IFT88, IL17D, LOC112163647, LOC121466728 | | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B, 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 | not provided, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B,
Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797509
- GRCh38:
- Chr13:20223370
| GJB6 | | not provided, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B,
Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome | Conflicting interpretations of pathogenicity
(Jan 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20796839
- GRCh38:
- Chr13:20222700
| GJB6 | S261G | not provided, Autosomal recessive nonsyndromic hearing loss 1B, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3B | 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 dominant nonsyndromic hearing loss 3B,
X-linked mixed hearing loss with perilymphatic gusher, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome
| Uncertain significance
(Sep 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797501
- GRCh38:
- Chr13:20223362
| GJB6 | A40V | not specified, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B,
Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1A | Uncertain significance
(May 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20805311
- GRCh38:
- Chr13:20231172
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20805256
- GRCh38:
- Chr13:20231117
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20805252
- GRCh38:
- Chr13:20231113
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20805238
- GRCh38:
- Chr13:20231099
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20805224
- GRCh38:
- Chr13:20231085
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20805165
- GRCh38:
- Chr13:20231026
| GJB6 | | not provided, Hidrotic ectodermal dysplasia syndrome | Benign/Likely benign
(Aug 28, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20805156
- GRCh38:
- Chr13:20231017
| GJB6 | | not provided, Hidrotic ectodermal dysplasia syndrome | Likely benign
(Oct 16, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20805138
- GRCh38:
- Chr13:20230999
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20805075
- GRCh38:
- Chr13:20230936
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20805046
- GRCh38:
- Chr13:20230907
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20805045
- GRCh38:
- Chr13:20230906
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20803881
- GRCh38:
- Chr13:20229742
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20803869
- GRCh38:
- Chr13:20229730
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20803852
- GRCh38:
- Chr13:20229713
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20803825
- GRCh38:
- Chr13:20229686
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20803808
- GRCh38:
- Chr13:20229669
| GJB6 | | not provided, Hidrotic ectodermal dysplasia syndrome | Benign
(Oct 14, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20803729
- GRCh38:
- Chr13:20229590
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20797622
- GRCh38:
- Chr13:20223483
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - 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, not provided, Hidrotic ectodermal dysplasia syndrome,
Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B | Conflicting interpretations of pathogenicity
(Jun 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20797215
- GRCh38:
- Chr13:20223076
| GJB6 | | not specified, not provided, Hidrotic ectodermal dysplasia syndrome,
Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1B | Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20796954
- GRCh38:
- Chr13:20222815
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - 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, not provided, Hidrotic ectodermal dysplasia syndrome
| Uncertain significance
(Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20796809
- GRCh38:
- Chr13:20222670
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20796533
- GRCh38:
- Chr13:20222394
| GJB6 | | not provided, Hidrotic ectodermal dysplasia syndrome | Benign
(Feb 11, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20796497
- GRCh38:
- Chr13:20222358
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20796275
- GRCh38:
- Chr13:20222136
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20796206
- GRCh38:
- Chr13:20222067
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20796120
- GRCh38:
- Chr13:20221981
| GJB6 | | Hidrotic ectodermal dysplasia syndrome | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:20796925
- GRCh38:
- Chr13:20222786
| GJB6 | P232H | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B, 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 | | 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
(Jul 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20797319
- GRCh38:
- Chr13:20223180
| GJB6 | E101K | Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B, X-linked mixed hearing loss with perilymphatic gusher,
Hidrotic ectodermal dysplasia syndrome | 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 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,
Hidrotic ectodermal dysplasia syndrome | Benign/Likely benign
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797411
- GRCh38:
- Chr13:20223272
| GJB6 | P70L | not specified, not provided, Hidrotic ectodermal dysplasia syndrome
| Uncertain significance
(Mar 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20796930-20796931
- GRCh38:
- Chr13:20222791-20222792
| GJB6 | N230fs | not provided, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3B,
Autosomal recessive nonsyndromic hearing loss 1B, Hidrotic ectodermal dysplasia syndrome, not specified
| Conflicting interpretations of pathogenicity
(Feb 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20797001
- GRCh38:
- Chr13:20222862
| GJB6 | V207M | Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1A, 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 | Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1A, not specified, 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 recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B,
Hidrotic ectodermal dysplasia syndrome, not specified, not provided,
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 1A, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B,
Hidrotic ectodermal dysplasia syndrome, 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 | Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1A, not specified, not provided,
Hidrotic ectodermal dysplasia syndrome | Benign/Likely benign
(Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797605
- GRCh38:
- Chr13:20223466
| GJB6 | | Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome,
Autosomal recessive nonsyndromic hearing loss 1A, not specified, not provided,
Hidrotic ectodermal dysplasia syndrome | Conflicting interpretations of pathogenicity
(Mar 25, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:20797510
- GRCh38:
- Chr13:20223371
| GJB6 | V37E | Hidrotic ectodermal dysplasia syndrome | Pathogenic
(Mar 1, 2002) | no assertion criteria provided |
| - GRCh37:
- Chr13:20797357
- GRCh38:
- Chr13:20223218
| GJB6 | A88V | Autosomal recessive nonsyndromic hearing loss 1B, Hidrotic ectodermal dysplasia syndrome, X-linked mixed hearing loss with perilymphatic gusher,
Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, 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 | Pathogenic
(Jan 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:20797589
- GRCh38:
- Chr13:20223450
| GJB6 | G11R | Hidrotic ectodermal dysplasia syndrome, Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A,
Autosomal recessive nonsyndromic hearing loss 1B, Hidrotic ectodermal dysplasia syndrome, X-linked mixed hearing loss with perilymphatic gusher,
Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B,
not provided, Hidrotic ectodermal dysplasia syndrome ...see more | Pathogenic
(Jun 29, 2023) | criteria provided, multiple submitters, no conflicts |