| - GRCh37:
- Chr21:43803304
- GRCh38:
- Chr21:42383195
| TMPRSS3 | C207Y, C208Y, C80Y | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Apr 27, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43810053
- GRCh38:
- Chr21:42389944
| TMPRSS3 | L63R, L64R | Autosomal recessive nonsyndromic hearing loss 8 | Likely pathogenic (Feb 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43802308
- GRCh38:
- Chr21:42382199
| TMPRSS3 | G273V, G274V, G146V | Autosomal recessive nonsyndromic hearing loss 8 | Likely pathogenic (Feb 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43802209
- GRCh38:
- Chr21:42382100
| TMPRSS3 | A306V, A307V, A179V | Autosomal recessive nonsyndromic hearing loss 8 | Likely pathogenic (Feb 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43795841
- GRCh38:
- Chr21:42375732
| TMPRSS3 | I444T, I317T, I443T, I445T | Autosomal recessive nonsyndromic hearing loss 8 | Likely pathogenic (Feb 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43800275
- GRCh38:
- Chr21:42380166
| TMPRSS3 | D334fs, D207fs | not provided, Autosomal recessive nonsyndromic hearing loss 8 | Pathogenic (Feb 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43803153
- GRCh38:
- Chr21:42383044
| TMPRSS3 | H130Q, H257Q, H258Q | Autosomal recessive nonsyndromic hearing loss 8 | Likely pathogenic (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43810108
- GRCh38:
- Chr21:42389999
| TMPRSS3 | P45T | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43795977
- GRCh38:
- Chr21:42375868
| TMPRSS3 | G272R, G398R, G399R, G400R | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43803160
- GRCh38:
- Chr21:42383051
| TMPRSS3 | A128V, A255V | Autosomal recessive nonsyndromic hearing loss 8, not provided | Uncertain significance (Feb 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43815481
- GRCh38:
- Chr21:42395372
| TMPRSS3 | R16* | not provided, Autosomal recessive nonsyndromic hearing loss 8 | Pathogenic (Dec 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43810093-43810094
- GRCh38:
- Chr21:42389984-42389985
| TMPRSS3 | P50fs | Autosomal recessive nonsyndromic hearing loss 8 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr21:43803175
- GRCh38:
- Chr21:42383066
| TMPRSS3 | L123fs, L250fs | Autosomal recessive nonsyndromic hearing loss 8 | Pathogenic (Feb 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43803278
- GRCh38:
- Chr21:42383169
| TMPRSS3 | R216C, R89C | Autosomal recessive nonsyndromic hearing loss 8 | Pathogenic (Jul 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43808558
- GRCh38:
- Chr21:42388449
| TMPRSS3 | K134*, K7* | Autosomal recessive nonsyndromic hearing loss 8 | Pathogenic (Oct 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43804100
- GRCh38:
- Chr21:42383991
| TMPRSS3 | V199M, V72M | not provided, Autosomal recessive nonsyndromic hearing loss 8 | Conflicting interpretations of pathogenicity (Jun 9, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:43795953
- GRCh38:
- Chr21:42375844
| TMPRSS3 | C280R, C406R, C407R | not provided, Autosomal recessive nonsyndromic hearing loss 8 | Pathogenic (Feb 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43803153
- GRCh38:
- Chr21:42383044
| TMPRSS3 | H130Q, H257Q | Autosomal recessive nonsyndromic hearing loss 8 | Likely pathogenic (Mar 31, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43810080
- GRCh38:
- Chr21:42389971
| TMPRSS3 | I54T | Inborn genetic diseases, not provided, Autosomal recessive nonsyndromic hearing loss 8
| Uncertain significance (Apr 19, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43800221
- GRCh38:
- Chr21:42380112
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43796764
- GRCh38:
- Chr21:42376655
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43792379
- GRCh38:
- Chr21:42372270
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43792378
- GRCh38:
- Chr21:42372269
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43792298
- GRCh38:
- Chr21:42372189
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43792207
- GRCh38:
- Chr21:42372098
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43809147
- GRCh38:
- Chr21:42389038
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8, not provided | Conflicting interpretations of pathogenicity (Jun 24, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:43808586
- GRCh38:
- Chr21:42388477
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8, not provided | Conflicting interpretations of pathogenicity (Oct 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:43808547
- GRCh38:
- Chr21:42388438
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43795817
- GRCh38:
- Chr21:42375708
| TMPRSS3 | | not provided, Autosomal recessive nonsyndromic hearing loss 8 | Conflicting interpretations of pathogenicity (Aug 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:43795816
- GRCh38:
- Chr21:42375707
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43792818
- GRCh38:
- Chr21:42372709
| TMPRSS3 | | not provided, Autosomal recessive nonsyndromic hearing loss 8 | Conflicting interpretations of pathogenicity (Jun 16, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:43792121
- GRCh38:
- Chr21:42372012
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43792116
- GRCh38:
- Chr21:42372007
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43792094
- GRCh38:
- Chr21:42371985
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43792089
- GRCh38:
- Chr21:42371980
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43792066
- GRCh38:
- Chr21:42371957
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43805640
- GRCh38:
- Chr21:42385531
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43804130
- GRCh38:
- Chr21:42384021
| TMPRSS3 | | not provided, Autosomal recessive nonsyndromic hearing loss 8 | Conflicting interpretations of pathogenicity (Nov 25, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:43792682
- GRCh38:
- Chr21:42372573
| TMPRSS3 | | not provided, Autosomal recessive nonsyndromic hearing loss 8 | Likely benign (Oct 7, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43816077
- GRCh38:
- Chr21:42395968
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43802270
- GRCh38:
- Chr21:42382161
| TMPRSS3 | L159M, L286M | not provided, Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Aug 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43800270
- GRCh38:
- Chr21:42380161
| TMPRSS3 | G208A, G335A | not provided, Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 31, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43800255
- GRCh38:
- Chr21:42380146
| TMPRSS3 | T213M, T340M | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43792537
- GRCh38:
- Chr21:42372428
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43792460
- GRCh38:
- Chr21:42372351
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43792442
- GRCh38:
- Chr21:42372333
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43792395
- GRCh38:
- Chr21:42372286
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43796693
- GRCh38:
- Chr21:42376584
| TMPRSS3 | M383K, M384K, M257K | Autosomal recessive nonsyndromic hearing loss 8, not provided | Conflicting interpretations of pathogenicity (Feb 28, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:43795978
- GRCh38:
- Chr21:42375869
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Pathogenic (Feb 5, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr21:43809129
- GRCh38:
- Chr21:42389020
| TMPRSS3 | | not provided, Autosomal recessive nonsyndromic hearing loss 8 | Benign/Likely benign (Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43796640
- GRCh38:
- Chr21:42376531
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8, not provided | Conflicting interpretations of pathogenicity (Jan 4, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:43795866
- GRCh38:
- Chr21:42375757
| TMPRSS3 | R435C, R309C, R436C | not provided, Autosomal recessive nonsyndromic hearing loss 8, Rare genetic deafness
| Conflicting interpretations of pathogenicity (Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:43795934
- GRCh38:
- Chr21:42375825
| TMPRSS3 | W413*, W412*, W286* | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Dec 8, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43800225
- GRCh38:
- Chr21:42380116
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Pathogenic (Feb 26, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr21:43795903
- GRCh38:
- Chr21:42375794
| TMPRSS3 | | not provided, Autosomal recessive nonsyndromic hearing loss 8 | Conflicting interpretations of pathogenicity (Mar 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:43802344
- GRCh38:
- Chr21:42382235
| TMPRSS3 | | Hearing loss, autosomal recessive, Autosomal recessive nonsyndromic hearing loss 8 | Pathogenic/Likely pathogenic (Jul 5, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr21:43809050
- GRCh38:
- Chr21:42388941
| TMPRSS3 | E104K | Autosomal recessive nonsyndromic hearing loss 8, Rare genetic deafness | Pathogenic/Likely pathogenic (Nov 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43796715
- GRCh38:
- Chr21:42376606
| TMPRSS3 | G377S, G376S, G250S | not provided, Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (May 1, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43805594
- GRCh38:
- Chr21:42385485
| TMPRSS3 | R166W, R39W | not provided, Autosomal recessive nonsyndromic hearing loss 8, Hearing impairment
| Conflicting interpretations of pathogenicity (Apr 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:43809080
- GRCh38:
- Chr21:42388971
| TMPRSS3 | G94R | Autosomal recessive nonsyndromic hearing loss 8, not provided, not specified
| Uncertain significance (Apr 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43808612
- GRCh38:
- Chr21:42388503
| TMPRSS3 | V116M | not provided, Autosomal recessive nonsyndromic hearing loss 8 | Pathogenic/Likely pathogenic (Aug 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43804113
- GRCh38:
- Chr21:42384004
| TMPRSS3 | C194*, C67* | Autosomal recessive nonsyndromic hearing loss 8 | Pathogenic (Jun 4, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr21:43809044
- GRCh38:
- Chr21:42388935
| TMPRSS3 | R106C | not provided, Hearing impairment, Autosomal recessive nonsyndromic hearing loss 8
| Pathogenic/Likely pathogenic (Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43816197
- GRCh38:
- Chr21:42396088
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43816181
- GRCh38:
- Chr21:42396072
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43816177
- GRCh38:
- Chr21:42396068
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43816130
- GRCh38:
- Chr21:42396021
| TMPRSS3 | | not provided, Autosomal recessive nonsyndromic hearing loss 8 | Conflicting interpretations of pathogenicity (Jan 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:43816078
- GRCh38:
- Chr21:42395969
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43815589
- GRCh38:
- Chr21:42395480
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43815562
- GRCh38:
- Chr21:42395453
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8, not provided | Conflicting interpretations of pathogenicity (May 14, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:43815510
- GRCh38:
- Chr21:42395401
| TMPRSS3 | P6L | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43803243
- GRCh38:
- Chr21:42383134
| TMPRSS3 | | not provided, Autosomal recessive nonsyndromic hearing loss 8 | Conflicting interpretations of pathogenicity (May 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:43803209
- GRCh38:
- Chr21:42383100
| TMPRSS3 | Y239H, Y112H | not provided, Autosomal recessive nonsyndromic hearing loss 8 | Conflicting interpretations of pathogenicity (Jul 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:43792790
- GRCh38:
- Chr21:42372681
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43792694
- GRCh38:
- Chr21:42372585
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43792680
- GRCh38:
- Chr21:42372571
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8, not provided | Likely benign (Sep 30, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43792665
- GRCh38:
- Chr21:42372556
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8, not provided | Benign (Aug 10, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43792626
- GRCh38:
- Chr21:42372517
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43792625
- GRCh38:
- Chr21:42372516
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8, not provided | Benign/Likely benign (Nov 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43792584
- GRCh38:
- Chr21:42372475
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43792474
- GRCh38:
- Chr21:42372365
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43792469
- GRCh38:
- Chr21:42372360
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43792464
- GRCh38:
- Chr21:42372355
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43792462
- GRCh38:
- Chr21:42372353
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43792394
- GRCh38:
- Chr21:42372285
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43792332
- GRCh38:
- Chr21:42372223
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43792331
- GRCh38:
- Chr21:42372222
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43792295
- GRCh38:
- Chr21:42372186
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43792179
- GRCh38:
- Chr21:42372070
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43792056
- GRCh38:
- Chr21:42371947
| TMPRSS3 | | Autosomal recessive nonsyndromic hearing loss 8, not provided | Conflicting interpretations of pathogenicity (Aug 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:43796672
- GRCh38:
- Chr21:42376563
| TMPRSS3 | T391M, T264M, T390M | not specified, Autosomal recessive nonsyndromic hearing loss 8, not provided
| Uncertain significance (Jul 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43809148
- GRCh38:
- Chr21:42389039
| TMPRSS3 | F71S | Autosomal recessive nonsyndromic hearing loss 8, not provided, not specified
| Conflicting interpretations of pathogenicity (May 6, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:43808632
- GRCh38:
- Chr21:42388523
| TMPRSS3 | R109Q | not provided, Autosomal recessive nonsyndromic hearing loss 8 | Conflicting interpretations of pathogenicity (Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:43809121
- GRCh38:
- Chr21:42389012
| TMPRSS3 | R80H | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 8
| Conflicting interpretations of pathogenicity (Jun 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:43802337
- GRCh38:
- Chr21:42382228
| TMPRSS3 | | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 8
| Conflicting interpretations of pathogenicity (Jun 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:43803197
- GRCh38:
- Chr21:42383088
| TMPRSS3 | G243R, G116R | Rare genetic deafness, not provided, Autosomal recessive nonsyndromic hearing loss 8
| Likely pathogenic (Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43795837
- GRCh38:
- Chr21:42375728
| TMPRSS3 | | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 8
| Conflicting interpretations of pathogenicity (Sep 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:43805593
- GRCh38:
- Chr21:42385484
| TMPRSS3 | R166L, R39L | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 8
| Conflicting interpretations of pathogenicity (Oct 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:43809152
- GRCh38:
- Chr21:42389043
| TMPRSS3 | H70fs | Rare genetic deafness, Inborn genetic diseases, not provided, Autosomal recessive nonsyndromic hearing loss 8, Hearing impairment | Pathogenic/Likely pathogenic (Nov 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43796692
- GRCh38:
- Chr21:42376583
| TMPRSS3 | M384I, M257I, M383I | not specified | Uncertain significance (May 15, 2013) | criteria provided, single submitter |