| - GRCh37:
- Chr1:216137184
- GRCh38:
- Chr1:215963842
| USH2A | | Autosomal dominant nonsyndromic hearing loss 36 | Likely pathogenic
(Mar 23, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr1:215844483
- GRCh38:
- Chr1:215671141
| USH2A | L4655P | Autosomal dominant nonsyndromic hearing loss 36 | Uncertain significance
(Mar 23, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr1:215955400
- GRCh38:
- Chr1:215782058
| USH2A | C3575F | Autosomal dominant nonsyndromic hearing loss 36 | Likely pathogenic
(Mar 23, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr1:215955531
- GRCh38:
- Chr1:215782189
| USH2A | I3532fs | Autosomal dominant nonsyndromic hearing loss 36 | Pathogenic
(Mar 23, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr9:75420358
- GRCh38:
- Chr9:72805442
| TMC1 | | Autosomal dominant nonsyndromic hearing loss 36 | Pathogenic
(Jan 30, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr9:75407146
- GRCh38:
- Chr9:72792230
| TMC1 | W482R | Autosomal dominant nonsyndromic hearing loss 36 | Uncertain significance
(Jan 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75406833
- GRCh38:
- Chr9:72791917
| TMC1 | F419S | Autosomal dominant nonsyndromic hearing loss 36 | Uncertain significance
(Jan 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75435969
- GRCh38:
- Chr9:72821053
| TMC1 | P659T | Autosomal dominant nonsyndromic hearing loss 36 | Uncertain significance
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:75406911
- GRCh38:
- Chr9:72791995
| TMC1 | R445H | not provided, Autosomal dominant nonsyndromic hearing loss 36 | Conflicting interpretations of pathogenicity
(Mar 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:75406889
- GRCh38:
- Chr9:72791973
| TMC1 | A438T | not provided, Autosomal dominant nonsyndromic hearing loss 36 | Uncertain significance
(Sep 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - 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:
- Chr9:75445414
- 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:
- Chr9:75355045
- 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 |
| - 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:
- Chr9:75451072
- 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 | | Autosomal dominant nonsyndromic hearing loss 36, not provided, 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:
- Chr9:75403326
- 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:
- Chr9:75406812
- GRCh38:
- Chr9:72791896
| TMC1 | M413fs | Rare genetic deafness, not provided | Pathogenic
(Mar 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:75406830
- GRCh38:
- Chr9:72791914
| TMC1 | M418K | Autosomal dominant nonsyndromic hearing loss 36 | Pathogenic
(Jan 1, 2014) | no assertion criteria provided |
| - 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:
- Chr9:75450881
- 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 |
| - GRCh37:
- Chr9:75431077
- GRCh38:
- Chr9:72816161
| TMC1 | D572H | Autosomal dominant nonsyndromic hearing loss 36 | Pathogenic
(Feb 1, 2007) | no assertion criteria provided |
| - GRCh37:
- Chr9:75431077
- GRCh38:
- Chr9:72816161
| TMC1 | D572N | Rare genetic deafness, not provided, Autosomal dominant nonsyndromic hearing loss 36
| Pathogenic/Likely pathogenic
(Mar 31, 2022) | criteria provided, multiple submitters, no conflicts |