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Items: 95

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
2.
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
3.
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
4.
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
5.
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
6.
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
7.
GRCh37:
Chr2:26682927
GRCh38:
Chr2:26460059
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
8.
GRCh37:
Chr2:26683071
GRCh38:
Chr2:26460203
OTOFDeafness, autosomal recessive 9, Auditory neuropathy, autosomal recessive, 1Conflicting interpretations of pathogenicity
(Oct 21, 2014)
no assertion criteria provided
9.
GRCh37:
Chr2:26683072
GRCh38:
Chr2:26460204
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
10.
GRCh37:
Chr2:26683528
GRCh38:
Chr2:26460660
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
11.
GRCh37:
Chr2:26683719
GRCh38:
Chr2:26460851
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
12.
GRCh37:
Chr2:26683769
GRCh38:
Chr2:26460901
OTOFDeafness, autosomal recessive 9Benign
(Apr 26, 2011)
no assertion criteria provided
13.
GRCh37:
Chr2:26683777
GRCh38:
Chr2:26460909
OTOFDeafness, autosomal recessive 9, not specifiedBenign
(Apr 26, 2011)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr2:26683865
GRCh38:
Chr2:26460997
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
15.
GRCh37:
Chr2:26684624
GRCh38:
Chr2:26461756
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
16.
GRCh37:
Chr2:26684685-26684687
GRCh38:
Chr2:26461817-26461819
OTOFDeafness, autosomal recessive 9, Nonsyndromic hearing loss and deafnessLikely pathogenic, association
(Jul 30, 2015)
criteria provided, single submitter
17.
GRCh37:
Chr2:26684706
GRCh38:
Chr2:26461838
OTOFDeafness, autosomal recessive 9, not specifiedBenign
(Apr 26, 2011)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr2:26684713
GRCh38:
Chr2:26461845
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
19.
GRCh37:
Chr2:26685045
GRCh38:
Chr2:26462177
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
20.
GRCh37:
Chr2:26686837
GRCh38:
Chr2:26463969
OTOFDeafness, autosomal recessive 9, Nonsyndromic hearing loss and deafness, not provided
Pathogenic/Likely pathogenic
(May 13, 2016)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr2:26686924
GRCh38:
Chr2:26464056
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
22.
GRCh37:
Chr2:26687736
GRCh38:
Chr2:26464868
OTOFDeafness, autosomal recessive 9, Auditory neuropathy, autosomal recessive, 1Pathogenic
(Apr 26, 2011)
no assertion criteria provided
23.
GRCh37:
Chr2:26687761
GRCh38:
Chr2:26464893
OTOFDeafness, autosomal recessive 9, not specified, Nonsyndromic Hearing Loss, Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr2:26687824
GRCh38:
Chr2:26464956
OTOFDeafness, autosomal recessive 9Benign
(Apr 26, 2011)
no assertion criteria provided
25.
GRCh37:
Chr2:26687878
GRCh38:
Chr2:26465010
OTOFDeafness, autosomal recessive 9association
(Jul 30, 2015)
no assertion criteria provided
26.
GRCh37:
Chr2:26687888
GRCh38:
Chr2:26465020
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
27.
GRCh37:
Chr2:26688572
GRCh38:
Chr2:26465704
OTOFDeafness, autosomal recessive 9, not specified, Nonsyndromic Hearing Loss, Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr2:26688621
GRCh38:
Chr2:26465753
OTOFDeafness, autosomal recessive 9, Nonsyndromic hearing loss and deafnessLikely pathogenic, association
(Jul 30, 2015)
no assertion criteria provided
29.
GRCh37:
Chr2:26688662
GRCh38:
Chr2:26465794
OTOFDeafness, autosomal recessive 9, not specified, Nonsyndromic Hearing Loss, Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr2:26688886
GRCh38:
Chr2:26466018
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
31.
GRCh37:
Chr2:26689580
GRCh38:
Chr2:26466712
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
32.
GRCh37:
Chr2:26689591
GRCh38:
Chr2:26466723
OTOFDeafness, autosomal recessive 9, Nonsyndromic hearing loss and deafnessPathogenic
(Feb 26, 2015)
criteria provided, single submitter
33.
GRCh37:
Chr2:26689599
GRCh38:
Chr2:26466731
OTOFDeafness, autosomal recessive 9, Hearing impairmentPathogenic
(Jan 13, 2015)
criteria provided, single submitter
34.
GRCh37:
Chr2:26689615
GRCh38:
Chr2:26466747
OTOFDeafness, autosomal recessive 9association
(Jul 30, 2015)
no assertion criteria provided
35.
GRCh37:
Chr2:26689978
GRCh38:
Chr2:26467110
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
36.
GRCh37:
Chr2:26690054
GRCh38:
Chr2:26467186
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
37.
GRCh37:
Chr2:26690232
GRCh38:
Chr2:26467364
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
38.
GRCh37:
Chr2:26690303
GRCh38:
Chr2:26467435
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
39.
GRCh37:
Chr2:26693518
GRCh38:
Chr2:26470650
OTOFDeafness, autosomal recessive 9, not specifiedConflicting interpretations of pathogenicity
(Mar 6, 2015)
criteria provided, conflicting interpretations
40.
GRCh37:
Chr2:26696164
GRCh38:
Chr2:26473296
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
41.
GRCh37:
Chr2:26696374
GRCh38:
Chr2:26473506
OTOFDeafness, autosomal recessive 9, not specifiedBenign
(Nov 2, 2011)
criteria provided, single submitter
42.
GRCh37:
Chr2:26696431
GRCh38:
Chr2:26473563
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
43.
GRCh37:
Chr2:26696867
GRCh38:
Chr2:26473999
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
44.
GRCh37:
Chr2:26697400
GRCh38:
Chr2:26474532
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
45.
GRCh37:
Chr2:26697422
GRCh38:
Chr2:26474554
OTOFDeafness, autosomal recessive 9, not specifiedBenign
(Apr 26, 2011)
criteria provided, single submitter
46.
GRCh37:
Chr2:26697430
GRCh38:
Chr2:26474562
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
47.
GRCh37:
Chr2:26697480
GRCh38:
Chr2:26474612
OTOFDeafness, autosomal recessive 9, not specified, Nonsyndromic Hearing Loss, Recessive
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr2:26698321
GRCh38:
Chr2:26475453
OTOFDeafness, autosomal recessive 9, Auditory neuropathy, autosomal recessive, 1Pathogenic
(Apr 26, 2011)
no assertion criteria provided
49.
GRCh37:
Chr2:26698781
GRCh38:
Chr2:26475913
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
50.
GRCh37:
Chr2:26698795-26698796
GRCh38:
Chr2:26475927-26475928
OTOFDeafness, autosomal recessive 9, Nonsyndromic hearing loss and deafnessPathogenic, association
(Jul 30, 2015)
criteria provided, single submitter
51.
GRCh37:
Chr2:26698850-26698868
GRCh38:
Chr2:26475982-26476000
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
52.
GRCh37:
Chr2:26698882
GRCh38:
Chr2:26476014
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
53.
GRCh37:
Chr2:26698886
GRCh38:
Chr2:26476018
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
54.
GRCh37:
Chr2:26699126
GRCh38:
Chr2:26476258
OTOFDeafness, autosomal recessive 9, not specified, Nonsyndromic Hearing Loss, Recessive
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr2:26699127-26699130
GRCh38:
Chr2:26476259-26476262
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
56.
GRCh37:
Chr2:26699177-26699178
GRCh38:
Chr2:26476309-26476310
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
57.
GRCh37:
Chr2:26699786
GRCh38:
Chr2:26476918
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
58.
GRCh37:
Chr2:26699855
GRCh38:
Chr2:26476987
OTOFDeafness, autosomal recessive 9, not specified, Nonsyndromic Hearing Loss, Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr2:26700078
GRCh38:
Chr2:26477210
OTOFDeafness, autosomal recessive 9, Nonsyndromic hearing loss and deafness, not provided
Pathogenic, association
(Jun 29, 2016)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr2:26700099
GRCh38:
Chr2:26477231
OTOFDeafness, autosomal recessive 9, not specifiedBenign
(Nov 16, 2015)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr2:26700309
GRCh38:
Chr2:26477441
OTOFDeafness, autosomal recessive 9, not specifiedConflicting interpretations of pathogenicity
(Aug 6, 2015)
criteria provided, conflicting interpretations
62.
GRCh37:
Chr2:26700342
GRCh38:
Chr2:26477474
OTOFDeafness, autosomal recessive 9, Nonsyndromic hearing loss and deafnessPathogenic
(Feb 26, 2015)
criteria provided, single submitter
63.
GRCh37:
Chr2:26700373
GRCh38:
Chr2:26477505
OTOFDeafness, autosomal recessive 9, not specifiedBenign
(Apr 26, 2011)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr2:26700374
GRCh38:
Chr2:26477506
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
65.
GRCh37:
Chr2:26700593
GRCh38:
Chr2:26477725
OTOFDeafness, autosomal recessive 9, Nonsyndromic hearing loss and deafness, not provided
Pathogenic
(Mar 31, 2016)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr2:26702131
GRCh38:
Chr2:26479263
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
67.
GRCh37:
Chr2:26702224
GRCh38:
Chr2:26479356
OTOFDeafness, autosomal recessive 9, Nonsyndromic hearing loss and deafnessPathogenic
(Mar 26, 2012)
criteria provided, single submitter
68.
GRCh37:
Chr2:26702409
GRCh38:
Chr2:26479541
OTOFDeafness, autosomal recessive 9, not specifiedBenign
(Apr 26, 2011)
criteria provided, single submitter
69.
GRCh37:
Chr2:26702412
GRCh38:
Chr2:26479544
OTOFDeafness, autosomal recessive 9, not specified, Nonsyndromic Hearing Loss, Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr2:26702468
GRCh38:
Chr2:26479600
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
71.
GRCh37:
Chr2:26702508
GRCh38:
Chr2:26479640
OTOFDeafness, autosomal recessive 9, not specifiedBenign
(Apr 26, 2011)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr2:26703097
GRCh38:
Chr2:26480229
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
73.
GRCh37:
Chr2:26703142
GRCh38:
Chr2:26480274
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
74.
GRCh37:
Chr2:26703677
GRCh38:
Chr2:26480809
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
75.
GRCh37:
Chr2:26703717
GRCh38:
Chr2:26480849
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
76.
GRCh37:
Chr2:26703734
GRCh38:
Chr2:26480866
OTOFDeafness, autosomal recessive 9, not specifiedBenign
(Apr 26, 2011)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr2:26703739
GRCh38:
Chr2:26480871
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
78.
GRCh37:
Chr2:26703806
GRCh38:
Chr2:26480938
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
79.
GRCh37:
Chr2:26703848
GRCh38:
Chr2:26480980
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
80.
GRCh37:
Chr2:26703850
GRCh38:
Chr2:26480982
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
81.
GRCh37:
Chr2:26703856
GRCh38:
Chr2:26480988
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
82.
GRCh37:
Chr2:26705309
GRCh38:
Chr2:26482441
OTOFDeafness, autosomal recessive 9, Auditory neuropathy, autosomal recessive, 1Pathogenic, association
(Jul 30, 2015)
no assertion criteria provided
83.
GRCh37:
Chr2:26705384
GRCh38:
Chr2:26482516
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
84.
GRCh37:
Chr2:26706449
GRCh38:
Chr2:26483581
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
85.
GRCh37:
Chr2:26706486
GRCh38:
Chr2:26483618
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
86.
GRCh37:
Chr2:26707353
GRCh38:
Chr2:26484485
OTOFDeafness, autosomal recessive 9, not specifiedConflicting interpretations of pathogenicity
(Apr 13, 2015)
criteria provided, conflicting interpretations
87.
GRCh37:
Chr2:26707367
GRCh38:
Chr2:26484499
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
88.
GRCh37:
Chr2:26707443-26707444
GRCh38:
Chr2:26484575-26484576
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
89.
GRCh37:
Chr2:26712561
GRCh38:
Chr2:26489693
OTOFDeafness, autosomal recessive 9, not specified, Nonsyndromic Hearing Loss, Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr2:26717943
GRCh38:
Chr2:26495075
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
91.
GRCh37:
Chr2:26724622
GRCh38:
Chr2:26501754
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
92.
GRCh37:
Chr2:26725169
GRCh38:
Chr2:26502301
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
93.
GRCh37:
Chr2:26739423
GRCh38:
Chr2:26516555
OTOFDeafness, autosomal recessive 9, not specified, Nonsyndromic Hearing Loss, Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr2:26741961
GRCh38:
Chr2:26519093
OTOFDeafness, autosomal recessive 9, not specified, Nonsyndromic Hearing Loss, Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr2:26750769
GRCh38:
Chr2:26527901
OTOFDeafness, autosomal recessive 9, not specified, Nonsyndromic Hearing Loss, Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
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