| - GRCh37:
- Chr9:75303674
- GRCh38:
- Chr9:72688758
| TMC1 | | Autosomal recessive nonsyndromic hearing loss 7 | Likely pathogenic
(Mar 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75406827
- GRCh38:
- Chr9:72791911
| TMC1 | G417E | Autosomal recessive nonsyndromic hearing loss 7 | Pathogenic
(Nov 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75431113
- GRCh38:
- Chr9:72816197
| TMC1 | Q584* | Autosomal recessive nonsyndromic hearing loss 7 | Likely pathogenic
(Nov 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75441785
- GRCh38:
- Chr9:72826869
| TMC1 | S668R | Autosomal recessive nonsyndromic hearing loss 7 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr9:75431127
- GRCh38:
- Chr9:72816211
| TMC1 | | Autosomal recessive nonsyndromic hearing loss 7 | Likely pathogenic
(Aug 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75404193
- GRCh38:
- Chr9:72789277
| TMC1 | Q395fs | Autosomal recessive nonsyndromic hearing loss 7 | Pathogenic
(Aug 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75366794
- GRCh38:
- Chr9:72751878
| TMC1 | Y188* | Autosomal recessive nonsyndromic hearing loss 7 | Likely pathogenic
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75366775
- GRCh38:
- Chr9:72751859
| TMC1 | G182V | Autosomal recessive nonsyndromic hearing loss 7 | Uncertain significance
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75357411
- GRCh38:
- Chr9:72742495
| TMC1 | P169A | Autosomal recessive nonsyndromic hearing loss 7 | Uncertain significance
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75309544
- GRCh38:
- Chr9:72694628
| TMC1 | N50fs | Autosomal recessive nonsyndromic hearing loss 7 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr9:75435759
- GRCh38:
- Chr9:72820843
| TMC1 | M589V | Autosomal recessive nonsyndromic hearing loss 7 | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr9:75366876
- GRCh38:
- Chr9:72751960
| TMC1 | | Autosomal recessive nonsyndromic hearing loss 7 | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr16:21726333
- GRCh38:
- Chr16:21715012
| OTOA | M126V, M371V, M450V | Autosomal recessive nonsyndromic hearing loss 7 | Uncertain significance
(Jul 1, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr16:21728298-21728301
- GRCh38:
- Chr16:21716977-21716980
| OTOA | F197fs, F442fs, F521fs | Autosomal recessive nonsyndromic hearing loss 22 | Pathogenic
(Feb 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75387384
- GRCh38:
- Chr9:72772468
| TMC1 | I266T | Nonsyndromic genetic hearing loss | Likely pathogenic
(Jan 20, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75407253
- GRCh38:
- Chr9:72792337
| TMC1 | E517D | Autosomal recessive nonsyndromic hearing loss 7 | Uncertain significance
(Jul 1, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr9:75366826
- GRCh38:
- Chr9:72751910
| TMC1 | N199S | Autosomal recessive nonsyndromic hearing loss 7 | Uncertain significance
(Jul 1, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr9:75387408
- GRCh38:
- Chr9:72772492
| TMC1 | P274L | Autosomal recessive nonsyndromic hearing loss 7, Hearing impairment, not provided
| Conflicting interpretations of pathogenicity
(Jul 30, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:75435996
- GRCh38:
- Chr9:72821080
| TMC1 | S668G | Autosomal recessive nonsyndromic hearing loss 7 | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr9:75404210
- GRCh38:
- Chr9:72789294
| TMC1 | L401I | Autosomal recessive nonsyndromic hearing loss 7 | Uncertain significance
(Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75451191
- GRCh38:
- Chr9:72836275
| TMC1 | | Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75441792
- GRCh38:
- Chr9:72826876
| TMC1 | N671D | Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75231314
- GRCh38:
- Chr9:72616398
| TMC1 | | Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36 | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:75231294
- GRCh38:
- Chr9:72616378
| TMC1 | | Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36 | Uncertain significance
(Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75192860
- GRCh38:
- Chr9:72577944
| TMC1 | | Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7 | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75136815
- GRCh38:
- Chr9:72521899
| TMC1 | | Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75136776
- GRCh38:
- Chr9:72521860
| TMC1 | | Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75450915
- GRCh38:
- Chr9:72835999
| TMC1 | | Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7 | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:75450899
- GRCh38:
- Chr9:72835983
| TMC1 | | Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75420325
- GRCh38:
- Chr9:72805409
| TMC1 | V532I | Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36 | Uncertain significance
(Mar 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75407119
- GRCh38:
- Chr9:72792203
| TMC1 | K473Q | Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75303654
- GRCh38:
- Chr9:72688738
| TMC1 | E16K | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 7,
Autosomal dominant nonsyndromic hearing loss 36 | Uncertain significance
(Dec 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:75450882
- GRCh38:
- Chr9:72835966
| TMC1 | R759H | Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36 | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75445583
- GRCh38:
- Chr9:72830667
| TMC1 | A749S | not provided, Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7
| Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:75403346
- GRCh38:
- Chr9:72788430
| TMC1 | G326S | Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75431071
- GRCh38:
- Chr9:72816155
| TMC1 | E570K | not specified, Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36,
not provided | Uncertain significance
(Feb 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:75445400
- GRCh38:
- Chr9:72830484
| TMC1 | K721N | Autosomal recessive nonsyndromic hearing loss 7 | Uncertain significance
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75366826
- GRCh38:
- Chr9:72751910
| TMC1 | N199I | Autosomal recessive nonsyndromic hearing loss 7 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr9:75445556
- GRCh38:
- Chr9:72830640
| TMC1 | E740* | Autosomal recessive nonsyndromic hearing loss 7 | Pathogenic
(Feb 26, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr9:75403253
- GRCh38:
- Chr9:72788337
| TMC1 | | Autosomal recessive nonsyndromic hearing loss 7 | Pathogenic
(May 23, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75406836
- GRCh38:
- Chr9:72791920
| TMC1 | C420Y | Autosomal recessive nonsyndromic hearing loss 7, Hearing loss, autosomal recessive | Pathogenic/Likely pathogenic
(Jul 1, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr9:75445414
- GRCh38:
- Chr9:72830498
| TMC1 | A726V | not provided, Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7
| Uncertain significance
(Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:75404152
- GRCh38:
- Chr9:72789236
| TMC1 | Y381* | Autosomal recessive nonsyndromic hearing loss 7, Hearing loss, autosomal recessive | Pathogenic/Likely pathogenic
(Jul 5, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr9:75404222-75404223
- GRCh38:
- Chr9:72789306-72789307
| TMC1 | N407fs | Autosomal recessive nonsyndromic hearing loss 7 | Pathogenic
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75355045
- GRCh38:
- Chr9:72740129
| TMC1 | K125Q | not provided, Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36
| Uncertain significance
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:75309631
- GRCh38:
- Chr9:72694715
| TMC1 | | Rare genetic deafness, not provided, Autosomal dominant nonsyndromic hearing loss 36,
Autosomal recessive nonsyndromic hearing loss 7, Ear malformation | Pathogenic
(Sep 10, 2022) | criteria provided, multiple submitters, no conflicts |
| | | | Autosomal recessive nonsyndromic hearing loss 7 | Pathogenic
(Feb 19, 2016) | no assertion criteria provided |
| | | | Autosomal recessive nonsyndromic hearing loss 7 | Pathogenic
(Feb 19, 2016) | no assertion criteria provided |
| | | | Autosomal recessive nonsyndromic hearing loss 7 | Pathogenic
(Feb 19, 2016) | no assertion criteria provided |
| | | | Autosomal recessive nonsyndromic hearing loss 7 | Pathogenic
(Feb 16, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr9:75403308
- GRCh38:
- Chr9:72788392
| TMC1 | F313S | Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36 | Uncertain significance
(Feb 26, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr9:75366854
- GRCh38:
- Chr9:72751938
| TMC1 | S208R | Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36 | Uncertain significance
(Feb 25, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr9:75407234
- GRCh38:
- Chr9:72792318
| TMC1 | P511L | Autosomal recessive nonsyndromic hearing loss 7 | Pathogenic
(Jun 4, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr9:75451072
- GRCh38:
- Chr9:72836156
| TMC1 | | Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7 | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:75451045
- GRCh38:
- Chr9:72836129
| TMC1 | | not provided, Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7
| Conflicting interpretations of pathogenicity
(Jan 20, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:75450995
- GRCh38:
- Chr9:72836079
| TMC1 | | not provided, Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7
| Conflicting interpretations of pathogenicity
(Feb 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:75450982
- GRCh38:
- Chr9:72836066
| TMC1 | | Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75450940
- GRCh38:
- Chr9:72836024
| TMC1 | | Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75450917
- GRCh38:
- Chr9:72836001
| TMC1 | | not provided, Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7
| Conflicting interpretations of pathogenicity
(Jul 28, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:75445441
- GRCh38:
- Chr9:72830525
| TMC1 | K735T | Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75420340
- GRCh38:
- Chr9:72805424
| TMC1 | V537I | not provided, Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7
| Conflicting interpretations of pathogenicity
(Jul 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:75420339
- GRCh38:
- Chr9:72805423
| TMC1 | | not provided, Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7
| Conflicting interpretations of pathogenicity
(Oct 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:75420315
- GRCh38:
- Chr9:72805399
| TMC1 | | Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75403280
- GRCh38:
- Chr9:72788364
| TMC1 | G304R | Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75387382
- GRCh38:
- Chr9:72772466
| TMC1 | | not provided, Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7
| Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:75369762
- GRCh38:
- Chr9:72754846
| TMC1 | A235S | not provided, Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36
| Conflicting interpretations of pathogenicity
(Jun 18, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:75357379
- GRCh38:
- Chr9:72742463
| TMC1 | R158H | not provided, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 7,
Autosomal dominant nonsyndromic hearing loss 36 | Uncertain significance
(Nov 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:75315429
- GRCh38:
- Chr9:72700513
| TMC1 | | not provided, Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36
| Uncertain significance
(Dec 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:75242908
- GRCh38:
- Chr9:72627992
| TMC1 | | Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7 | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:75231370
- GRCh38:
- Chr9:72616454
| TMC1 | | Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75231369
- GRCh38:
- Chr9:72616453
| TMC1 | | Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75231337
- GRCh38:
- Chr9:72616421
| TMC1 | | Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75192916
- GRCh38:
- Chr9:72578000
| TMC1 | | Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75192895
- GRCh38:
- Chr9:72577979
| TMC1 | | Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75136789
- GRCh38:
- Chr9:72521873
| TMC1 | | Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75136717
- GRCh38:
- Chr9:72521801
| TMC1 | | Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7 | Benign/Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75404123
- GRCh38:
- Chr9:72789207
| TMC1 | V372M | not provided, Autosomal recessive nonsyndromic hearing loss 7 | Conflicting interpretations of pathogenicity
(Sep 17, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:75403326
- GRCh38:
- Chr9:72788410
| TMC1 | T319S | Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36, not provided
| Uncertain significance
(Jun 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:75403294
- GRCh38:
- Chr9:72788378
| TMC1 | D308E | not provided, Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7
| Conflicting interpretations of pathogenicity
(Jun 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:75309623
- GRCh38:
- Chr9:72694707
| TMC1 | R77fs | Autosomal recessive nonsyndromic hearing loss 7 | Pathogenic
(Feb 16, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr9:75263573-75263574
- GRCh38:
- Chr9:72648657-72648658
| TMC1 | V6fs | Autosomal recessive nonsyndromic hearing loss 7 | Pathogenic
(Feb 16, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr9:75404150
- GRCh38:
- Chr9:72789234
| TMC1 | Y381N | Rare genetic deafness, not provided, Autosomal recessive nonsyndromic hearing loss 7
| Conflicting interpretations of pathogenicity
(Nov 18, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:75435933
- GRCh38:
- Chr9:72821017
| TMC1 | S647P | not provided, Rare genetic deafness | Pathogenic/Likely pathogenic
(Feb 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:75406812
- GRCh38:
- Chr9:72791896
| TMC1 | M413fs | Rare genetic deafness, not provided | Pathogenic
(Mar 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:75406910
- GRCh38:
- Chr9:72791994
| TMC1 | R445C | Rare genetic deafness, not provided, Autosomal dominant nonsyndromic hearing loss 36,
Autosomal recessive nonsyndromic hearing loss 7 | Conflicting interpretations of pathogenicity
(Dec 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:75406840
- GRCh38:
- Chr9:72791924
| TMC1 | | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 36,
Autosomal recessive nonsyndromic hearing loss 7 | Conflicting interpretations of pathogenicity
(Mar 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:75441851
- GRCh38:
- Chr9:72826935
| TMC1 | | not specified, not provided, Autosomal dominant nonsyndromic hearing loss 36,
Autosomal recessive nonsyndromic hearing loss 7 | Conflicting interpretations of pathogenicity
(Feb 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:75420284
- GRCh38:
- Chr9:72805368
| TMC1 | | not provided, Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7,
not specified | Conflicting interpretations of pathogenicity
(Mar 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:75407234
- GRCh38:
- Chr9:72792318
| TMC1 | P511H | not specified, Autosomal recessive nonsyndromic hearing loss 7 | Conflicting interpretations of pathogenicity
(Aug 1, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:75450881
- GRCh38:
- Chr9:72835965
| TMC1 | R759C | not provided, Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7
| Conflicting interpretations of pathogenicity
(Jan 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:75387347
- GRCh38:
- Chr9:72772431
| TMC1 | V254I | not specified, Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36
| Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:75303653
- GRCh38:
- Chr9:72688737
| TMC1 | | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 7,
Autosomal dominant nonsyndromic hearing loss 36 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:75355093
- GRCh38:
- Chr9:72740177
| TMC1 | R141W | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 7,
Autosomal dominant nonsyndromic hearing loss 36 | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:75315536
- GRCh38:
- Chr9:72700620
| TMC1 | M113I | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 7,
Autosomal dominant nonsyndromic hearing loss 36 | Uncertain significance
(Dec 19, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:75315438
- GRCh38:
- Chr9:72700522
| TMC1 | E81K | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 7,
Autosomal dominant nonsyndromic hearing loss 36 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:75445381
- GRCh38:
- Chr9:72830465
| TMC1 | Y715F | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 7,
Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36
| Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:75431129
- GRCh38:
- Chr9:72816213
| TMC1 | | Nonsyndromic Hearing Loss, Dominant, Rare genetic deafness, not provided,
Autosomal recessive nonsyndromic hearing loss 7 | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:75431076
- GRCh38:
- Chr9:72816160
| TMC1 | | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 7,
Autosomal dominant nonsyndromic hearing loss 36 | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:75309539
- GRCh38:
- Chr9:72694623
| TMC1 | I49L | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 7,
Autosomal dominant nonsyndromic hearing loss 36 | Uncertain significance
(Aug 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:75407159
- GRCh38:
- Chr9:72792243
| TMC1 | M486T | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 7,
Autosomal dominant nonsyndromic hearing loss 36 | Benign/Likely benign
(Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |