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Items: 1 to 100 of 132

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr21:43803304
GRCh38:
Chr21:42383195
TMPRSS3C207Y, C208Y, C80YAutosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Apr 27, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr21:43810053
GRCh38:
Chr21:42389944
TMPRSS3L63R, L64RAutosomal recessive nonsyndromic hearing loss 8Likely pathogenic
(Feb 28, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr21:43802308
GRCh38:
Chr21:42382199
TMPRSS3G273V, G274V, G146VAutosomal recessive nonsyndromic hearing loss 8Likely pathogenic
(Feb 28, 2023)
criteria provided, single submitter
4.
GRCh37:
Chr21:43802209
GRCh38:
Chr21:42382100
TMPRSS3A306V, A307V, A179VAutosomal recessive nonsyndromic hearing loss 8Likely pathogenic
(Feb 28, 2023)
criteria provided, single submitter
5.
GRCh37:
Chr21:43795841
GRCh38:
Chr21:42375732
TMPRSS3I444T, I317T, I443T, I445TAutosomal recessive nonsyndromic hearing loss 8Likely pathogenic
(Feb 28, 2023)
criteria provided, single submitter
6.
GRCh37:
Chr21:43800275
GRCh38:
Chr21:42380166
TMPRSS3D334fs, D207fsnot provided, Autosomal recessive nonsyndromic hearing loss 8Pathogenic
(Feb 28, 2023)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr21:43803153
GRCh38:
Chr21:42383044
TMPRSS3H130Q, H257Q, H258QAutosomal recessive nonsyndromic hearing loss 8Likely pathogenic
(Sep 1, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr21:43810108
GRCh38:
Chr21:42389999
TMPRSS3P45TAutosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Sep 1, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr21:43795977
GRCh38:
Chr21:42375868
TMPRSS3G272R, G398R, G399R, G400RAutosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Sep 1, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr21:43803160
GRCh38:
Chr21:42383051
TMPRSS3A128V, A255VAutosomal recessive nonsyndromic hearing loss 8, not providedUncertain significance
(Feb 10, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr21:43815481
GRCh38:
Chr21:42395372
TMPRSS3R16*not provided, Autosomal recessive nonsyndromic hearing loss 8Pathogenic
(Dec 3, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr21:43810093-43810094
GRCh38:
Chr21:42389984-42389985
TMPRSS3P50fsAutosomal recessive nonsyndromic hearing loss 8Pathogenicno assertion criteria provided
13.
GRCh37:
Chr21:43803175
GRCh38:
Chr21:42383066
TMPRSS3L123fs, L250fsAutosomal recessive nonsyndromic hearing loss 8Pathogenic
(Feb 10, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr21:43803278
GRCh38:
Chr21:42383169
TMPRSS3R216C, R89CAutosomal recessive nonsyndromic hearing loss 8Pathogenic
(Jul 28, 2023)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr21:43808558
GRCh38:
Chr21:42388449
TMPRSS3K134*, K7*Autosomal recessive nonsyndromic hearing loss 8Pathogenic
(Oct 7, 2020)
criteria provided, single submitter
16.
GRCh37:
Chr21:43804100
GRCh38:
Chr21:42383991
TMPRSS3V199M, V72Mnot provided, Autosomal recessive nonsyndromic hearing loss 8Conflicting interpretations of pathogenicity
(Jun 9, 2021)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr21:43795953
GRCh38:
Chr21:42375844
TMPRSS3C280R, C406R, C407Rnot provided, Autosomal recessive nonsyndromic hearing loss 8Pathogenic
(Feb 3, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr21:43803153
GRCh38:
Chr21:42383044
TMPRSS3H130Q, H257QAutosomal recessive nonsyndromic hearing loss 8Likely pathogenic
(Mar 31, 2020)
criteria provided, single submitter
19.
GRCh37:
Chr21:43810080
GRCh38:
Chr21:42389971
TMPRSS3I54TInborn genetic diseases, not provided, Autosomal recessive nonsyndromic hearing loss 8
Uncertain significance
(Apr 19, 2023)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr21:43800221
GRCh38:
Chr21:42380112
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr21:43796764
GRCh38:
Chr21:42376655
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr21:43792379
GRCh38:
Chr21:42372270
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr21:43792378
GRCh38:
Chr21:42372269
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr21:43792298
GRCh38:
Chr21:42372189
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr21:43792207
GRCh38:
Chr21:42372098
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr21:43809147
GRCh38:
Chr21:42389038
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8, not providedConflicting interpretations of pathogenicity
(Jun 24, 2021)
criteria provided, conflicting interpretations
27.
GRCh37:
Chr21:43808586
GRCh38:
Chr21:42388477
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8, not providedConflicting interpretations of pathogenicity
(Oct 8, 2022)
criteria provided, conflicting interpretations
28.
GRCh37:
Chr21:43808547
GRCh38:
Chr21:42388438
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
29.
GRCh37:
Chr21:43795817
GRCh38:
Chr21:42375708
TMPRSS3not provided, Autosomal recessive nonsyndromic hearing loss 8Conflicting interpretations of pathogenicity
(Aug 9, 2022)
criteria provided, conflicting interpretations
30.
GRCh37:
Chr21:43795816
GRCh38:
Chr21:42375707
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr21:43792818
GRCh38:
Chr21:42372709
TMPRSS3not provided, Autosomal recessive nonsyndromic hearing loss 8Conflicting interpretations of pathogenicity
(Jun 16, 2020)
criteria provided, conflicting interpretations
32.
GRCh37:
Chr21:43792121
GRCh38:
Chr21:42372012
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr21:43792116
GRCh38:
Chr21:42372007
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr21:43792094
GRCh38:
Chr21:42371985
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr21:43792089
GRCh38:
Chr21:42371980
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr21:43792066
GRCh38:
Chr21:42371957
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
37.
GRCh37:
Chr21:43805640
GRCh38:
Chr21:42385531
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr21:43804130
GRCh38:
Chr21:42384021
TMPRSS3not provided, Autosomal recessive nonsyndromic hearing loss 8Conflicting interpretations of pathogenicity
(Nov 25, 2021)
criteria provided, conflicting interpretations
39.
GRCh37:
Chr21:43792682
GRCh38:
Chr21:42372573
TMPRSS3not provided, Autosomal recessive nonsyndromic hearing loss 8Likely benign
(Oct 7, 2019)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr21:43816077
GRCh38:
Chr21:42395968
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Apr 28, 2017)
criteria provided, single submitter
41.
GRCh37:
Chr21:43802270
GRCh38:
Chr21:42382161
TMPRSS3L159M, L286Mnot provided, Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Aug 25, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr21:43800270
GRCh38:
Chr21:42380161
TMPRSS3G208A, G335Anot provided, Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 31, 2023)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr21:43800255
GRCh38:
Chr21:42380146
TMPRSS3T213M, T340MAutosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
44.
GRCh37:
Chr21:43792537
GRCh38:
Chr21:42372428
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr21:43792460
GRCh38:
Chr21:42372351
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr21:43792442
GRCh38:
Chr21:42372333
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr21:43792395
GRCh38:
Chr21:42372286
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr21:43796693
GRCh38:
Chr21:42376584
TMPRSS3M383K, M384K, M257KAutosomal recessive nonsyndromic hearing loss 8, not providedConflicting interpretations of pathogenicity
(Feb 28, 2023)
criteria provided, conflicting interpretations
49.
GRCh37:
Chr21:43795978
GRCh38:
Chr21:42375869
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Pathogenic
(Feb 5, 2020)
no assertion criteria provided
50.
GRCh37:
Chr21:43809129
GRCh38:
Chr21:42389020
TMPRSS3not provided, Autosomal recessive nonsyndromic hearing loss 8Benign/Likely benign
(Sep 13, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr21:43796640
GRCh38:
Chr21:42376531
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8, not providedConflicting interpretations of pathogenicity
(Jan 4, 2019)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr21:43795866
GRCh38:
Chr21:42375757
TMPRSS3R435C, R309C, R436Cnot provided, Autosomal recessive nonsyndromic hearing loss 8, Rare genetic deafness
Conflicting interpretations of pathogenicity
(Oct 24, 2022)
criteria provided, conflicting interpretations
53.
GRCh37:
Chr21:43795934
GRCh38:
Chr21:42375825
TMPRSS3W413*, W412*, W286*Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Dec 8, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr21:43800225
GRCh38:
Chr21:42380116
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Pathogenic
(Feb 26, 2019)
no assertion criteria provided
55.
GRCh37:
Chr21:43795903
GRCh38:
Chr21:42375794
TMPRSS3not provided, Autosomal recessive nonsyndromic hearing loss 8Conflicting interpretations of pathogenicity
(Mar 24, 2022)
criteria provided, conflicting interpretations
56.
GRCh37:
Chr21:43802344
GRCh38:
Chr21:42382235
TMPRSS3Hearing loss, autosomal recessive, Autosomal recessive nonsyndromic hearing loss 8Pathogenic/Likely pathogenic
(Jul 5, 2018)
no assertion criteria provided
57.
GRCh37:
Chr21:43809050
GRCh38:
Chr21:42388941
TMPRSS3E104KAutosomal recessive nonsyndromic hearing loss 8, Rare genetic deafnessPathogenic/Likely pathogenic
(Nov 10, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr21:43796715
GRCh38:
Chr21:42376606
TMPRSS3G377S, G376S, G250Snot provided, Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(May 1, 2020)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr21:43805594
GRCh38:
Chr21:42385485
TMPRSS3R166W, R39Wnot provided, Autosomal recessive nonsyndromic hearing loss 8, Hearing impairment
Conflicting interpretations of pathogenicity
(Apr 24, 2022)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr21:43809080
GRCh38:
Chr21:42388971
TMPRSS3G94RAutosomal recessive nonsyndromic hearing loss 8, not provided, not specified
Uncertain significance
(Apr 25, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr21:43808612
GRCh38:
Chr21:42388503
TMPRSS3V116Mnot provided, Autosomal recessive nonsyndromic hearing loss 8Pathogenic/Likely pathogenic
(Aug 24, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr21:43804113
GRCh38:
Chr21:42384004
TMPRSS3C194*, C67*Autosomal recessive nonsyndromic hearing loss 8Pathogenic
(Jun 4, 2016)
no assertion criteria provided
63.
GRCh37:
Chr21:43809044
GRCh38:
Chr21:42388935
TMPRSS3R106Cnot provided, Hearing impairment, Autosomal recessive nonsyndromic hearing loss 8
Pathogenic/Likely pathogenic
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr21:43816197
GRCh38:
Chr21:42396088
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr21:43816181
GRCh38:
Chr21:42396072
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr21:43816177
GRCh38:
Chr21:42396068
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr21:43816130
GRCh38:
Chr21:42396021
TMPRSS3not provided, Autosomal recessive nonsyndromic hearing loss 8Conflicting interpretations of pathogenicity
(Jan 1, 2023)
criteria provided, conflicting interpretations
68.
GRCh37:
Chr21:43816078
GRCh38:
Chr21:42395969
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr21:43815589
GRCh38:
Chr21:42395480
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr21:43815562
GRCh38:
Chr21:42395453
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8, not providedConflicting interpretations of pathogenicity
(May 14, 2019)
criteria provided, conflicting interpretations
71.
GRCh37:
Chr21:43815510
GRCh38:
Chr21:42395401
TMPRSS3P6LAutosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr21:43803243
GRCh38:
Chr21:42383134
TMPRSS3not provided, Autosomal recessive nonsyndromic hearing loss 8Conflicting interpretations of pathogenicity
(May 3, 2022)
criteria provided, conflicting interpretations
73.
GRCh37:
Chr21:43803209
GRCh38:
Chr21:42383100
TMPRSS3Y239H, Y112Hnot provided, Autosomal recessive nonsyndromic hearing loss 8Conflicting interpretations of pathogenicity
(Jul 20, 2022)
criteria provided, conflicting interpretations
74.
GRCh37:
Chr21:43792790
GRCh38:
Chr21:42372681
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr21:43792694
GRCh38:
Chr21:42372585
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr21:43792680
GRCh38:
Chr21:42372571
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8, not providedLikely benign
(Sep 30, 2019)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr21:43792665
GRCh38:
Chr21:42372556
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8, not providedBenign
(Aug 10, 2019)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr21:43792626
GRCh38:
Chr21:42372517
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr21:43792625
GRCh38:
Chr21:42372516
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8, not providedBenign/Likely benign
(Nov 12, 2018)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr21:43792584
GRCh38:
Chr21:42372475
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr21:43792474
GRCh38:
Chr21:42372365
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr21:43792469
GRCh38:
Chr21:42372360
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr21:43792464
GRCh38:
Chr21:42372355
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr21:43792462
GRCh38:
Chr21:42372353
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Likely benign
(Jan 13, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr21:43792394
GRCh38:
Chr21:42372285
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr21:43792332
GRCh38:
Chr21:42372223
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr21:43792331
GRCh38:
Chr21:42372222
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr21:43792295
GRCh38:
Chr21:42372186
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr21:43792179
GRCh38:
Chr21:42372070
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr21:43792056
GRCh38:
Chr21:42371947
TMPRSS3Autosomal recessive nonsyndromic hearing loss 8, not providedConflicting interpretations of pathogenicity
(Aug 1, 2022)
criteria provided, conflicting interpretations
91.
GRCh37:
Chr21:43796672
GRCh38:
Chr21:42376563
TMPRSS3T391M, T264M, T390Mnot specified, Autosomal recessive nonsyndromic hearing loss 8, not provided
Uncertain significance
(Jul 22, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr21:43809148
GRCh38:
Chr21:42389039
TMPRSS3F71SAutosomal recessive nonsyndromic hearing loss 8, not provided, not specified
Conflicting interpretations of pathogenicity
(May 6, 2021)
criteria provided, conflicting interpretations
93.
GRCh37:
Chr21:43808632
GRCh38:
Chr21:42388523
TMPRSS3R109Qnot provided, Autosomal recessive nonsyndromic hearing loss 8Conflicting interpretations of pathogenicity
(Oct 17, 2022)
criteria provided, conflicting interpretations
94.
GRCh37:
Chr21:43809121
GRCh38:
Chr21:42389012
TMPRSS3R80Hnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 8
Conflicting interpretations of pathogenicity
(Jun 1, 2023)
criteria provided, conflicting interpretations
95.
GRCh37:
Chr21:43802337
GRCh38:
Chr21:42382228
TMPRSS3not specified, not provided, Autosomal recessive nonsyndromic hearing loss 8
Conflicting interpretations of pathogenicity
(Jun 10, 2022)
criteria provided, conflicting interpretations
96.
GRCh37:
Chr21:43803197
GRCh38:
Chr21:42383088
TMPRSS3G243R, G116RRare genetic deafness, not provided, Autosomal recessive nonsyndromic hearing loss 8
Likely pathogenic
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr21:43795837
GRCh38:
Chr21:42375728
TMPRSS3not specified, not provided, Autosomal recessive nonsyndromic hearing loss 8
Conflicting interpretations of pathogenicity
(Sep 5, 2022)
criteria provided, conflicting interpretations
98.
GRCh37:
Chr21:43805593
GRCh38:
Chr21:42385484
TMPRSS3R166L, R39Lnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 8
Conflicting interpretations of pathogenicity
(Oct 9, 2022)
criteria provided, conflicting interpretations
99.
GRCh37:
Chr21:43809152
GRCh38:
Chr21:42389043
TMPRSS3H70fsRare 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
100.
GRCh37:
Chr21:43796692
GRCh38:
Chr21:42376583
TMPRSS3M384I, M257I, M383Inot specifiedUncertain significance
(May 15, 2013)
criteria provided, single submitter
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