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Items: 1 to 100 of 695

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr11:17568611
GRCh38:
Chr11:17547064
OTOGnot providedBenign
(Dec 24, 2018)
criteria provided, single submitterVCV001222674
2.
GRCh37:
Chr11:17568906-17568907
GRCh38:
Chr11:17547359-17547360
OTOGnot specifiednot provided
(Jun 16, 2015)
no assertion providedVCV000228318
3.
GRCh37:
Chr11:17568920
GRCh38:
Chr11:17547373
OTOGM1Vnot providedUncertain significance
(Mar 15, 2019)
criteria provided, single submitterVCV001197895
4.
GRCh37:
Chr11:17568932
GRCh38:
Chr11:17547385
OTOGA5Tnot providedUncertain significance
(Oct 18, 2021)
criteria provided, single submitterVCV001300734
5.
GRCh37:
Chr11:17568933
GRCh38:
Chr11:17547386
OTOGA5Vnot specifiedUncertain significance
(Jun 7, 2016)
criteria provided, single submitterVCV000505067
6.
GRCh37:
Chr11:17568935
GRCh38:
Chr11:17547388
OTOGS6Pnot specifiedLikely benign
(Nov 28, 2018)
criteria provided, single submitterVCV000666740
7.
GRCh37:
Chr11:17568940
GRCh38:
Chr11:17547393
OTOGnot specified, not providedBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000504776
8.
GRCh37:
Chr11:17568995
GRCh38:
Chr11:17547448
OTOGnot specifiedLikely benign
(Feb 22, 2018)
criteria provided, single submitterVCV000515578
9.
GRCh37:
Chr11:17569012
GRCh38:
Chr11:17547465
OTOGnot providedUncertain significance
(May 13, 2021)
criteria provided, single submitterVCV001208266
10.
GRCh37:
Chr11:17569013
GRCh38:
Chr11:17547466
OTOGG32S, A32Tnot providedUncertain significance
(Mar 27, 2017)
criteria provided, single submitterVCV000501008
11.
GRCh37:
Chr11:17569050
GRCh38:
Chr11:17547503
OTOGR44Qnot provided, not specifiedBenign
(Aug 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000226863
12.
GRCh37:
Chr11:17569088
GRCh38:
Chr11:17547541
OTOGA57Snot specifiedLikely benign
(Sep 14, 2017)
criteria provided, single submitterVCV000506139
13.
GRCh37:
Chr11:17569089
GRCh38:
Chr11:17547542
OTOGA57Vnot specifiedUncertain significance
(Jun 28, 2019)
criteria provided, single submitterVCV000930090
14.
GRCh37:
Chr11:17569392
GRCh38:
Chr11:17547845
OTOGnot providedBenign
(Nov 12, 2018)
criteria provided, single submitterVCV001233627
15.
GRCh37:
Chr11:17569485
GRCh38:
Chr11:17547938
OTOGV36Inot providedBenign
(Jan 13, 2019)
criteria provided, multiple submitters, no conflictsVCV000805106
16.
GRCh37:
Chr11:17569523
GRCh38:
Chr11:17547976
OTOGnot providedBenign
(Jan 13, 2019)
criteria provided, multiple submitters, no conflictsVCV000805107
17.
GRCh37:
Chr11:17569527
GRCh38:
Chr11:17547980
OTOGQ50Enot specified, not providedBenign
(Feb 11, 2020)
criteria provided, multiple submitters, no conflictsVCV001181149
18.
GRCh37:
Chr11:17569716
GRCh38:
Chr11:17548169
OTOGA58V, A70Vnot providedUncertain significance
(Mar 17, 2020)
criteria provided, single submitterVCV001215900
19.
GRCh37:
Chr11:17569885
GRCh38:
Chr11:17548338
OTOGnot providedBenign
(Dec 12, 2018)
criteria provided, single submitterVCV001262081
20.
GRCh37:
Chr11:17569966-17569979
GRCh38:
Chr11:17548419-17548432
OTOGnot providedLikely benign
(Feb 24, 2020)
criteria provided, single submitterVCV001216587
21.
GRCh37:
Chr11:17569966-17569981
GRCh38:
Chr11:17548419-17548434
OTOGnot providedLikely benign
(Sep 15, 2019)
criteria provided, single submitterVCV001213434
22.
GRCh37:
Chr11:17569966-17569984
GRCh38:
Chr11:17548419-17548437
OTOGnot providedLikely benign
(Sep 9, 2019)
criteria provided, single submitterVCV001211220
23.
GRCh37:
Chr11:17569966-17569976
GRCh38:
Chr11:17548419-17548429
OTOGnot providedLikely benign
(Jan 29, 2020)
criteria provided, single submitterVCV001203281
24.
GRCh37:
Chr11:17569966-17569985
GRCh38:
Chr11:17548419-17548438
OTOGnot providedBenign
(Aug 21, 2019)
criteria provided, single submitterVCV001175552
25.
GRCh37:
Chr11:17570003
GRCh38:
Chr11:17548456
OTOGnot providedLikely benign
(Feb 18, 2019)
criteria provided, single submitterVCV001223383
26.
GRCh37:
Chr11:17573329
GRCh38:
Chr11:17551782
OTOGnot providedBenign
(Nov 12, 2018)
criteria provided, single submitterVCV001273330
27.
GRCh37:
Chr11:17573567
GRCh38:
Chr11:17552020
OTOGnot specified, not providedBenign
(May 23, 2018)
criteria provided, multiple submitters, no conflictsVCV000226872
28.
GRCh37:
Chr11:17573592
GRCh38:
Chr11:17552045
OTOGR100W, R88Wnot specifiedUncertain significance
(Oct 8, 2019)
criteria provided, single submitterVCV000930159
29.
GRCh37:
Chr11:17573614
GRCh38:
Chr11:17552067
OTOGA95G, A107Gnot specifiedUncertain significance
(Feb 6, 2019)
criteria provided, single submitterVCV000667299
30.
GRCh37:
Chr11:17573626
GRCh38:
Chr11:17552079
OTOGnot specified, not providedUncertain significance
(Sep 22, 2021)
criteria provided, multiple submitters, no conflictsVCV000432317
31.
GRCh37:
Chr11:17573632
GRCh38:
Chr11:17552085
OTOGnot provided, not specifiedBenign
(Jul 9, 2020)
criteria provided, multiple submitters, no conflictsVCV000226881
32.
GRCh37:
Chr11:17573637
GRCh38:
Chr11:17552090
OTOGnot specifiedLikely benign
(Jun 8, 2015)
criteria provided, single submitterVCV000227774
33.
GRCh37:
Chr11:17573749
GRCh38:
Chr11:17552202
OTOGnot providedBenign
(Jan 13, 2019)
criteria provided, single submitterVCV001250160
34.
GRCh37:
Chr11:17573787
GRCh38:
Chr11:17552240
OTOGnot providedLikely benign
(Jan 13, 2019)
criteria provided, single submitterVCV001194971
35.
GRCh37:
Chr11:17574372
GRCh38:
Chr11:17552825
OTOGnot providedBenign
(Jan 13, 2019)
criteria provided, single submitterVCV001259881
36.
GRCh37:
Chr11:17574588
GRCh38:
Chr11:17553041
OTOGnot providedBenign
(Jun 24, 2018)
criteria provided, single submitterVCV001237547
37.
GRCh37:
Chr11:17574667
GRCh38:
Chr11:17553120
OTOGY110*, Y98*Deafness, autosomal recessive 18bPathogenic
(Oct 2, 2021)
criteria provided, single submitterVCV000496812
38.
GRCh37:
Chr11:17574684
GRCh38:
Chr11:17553137
OTOGN116S, N104Snot specifiedBenign
(Feb 1, 2019)
criteria provided, single submitterVCV000666633
39.
GRCh37:
Chr11:17574708
GRCh38:
Chr11:17553161
OTOGA124G, A112Gnot provided, Deafness, autosomal recessive 18b, not specified
Conflicting interpretations of pathogenicity
(May 13, 2021)
criteria provided, conflicting interpretationsVCV000229089
40.
GRCh37:
Chr11:17574738
GRCh38:
Chr11:17553191
OTOGT134I, T122Inot providedUncertain significance
(Nov 27, 2018)
criteria provided, single submitterVCV000805108
41.
GRCh37:
Chr11:17574744
GRCh38:
Chr11:17553197
OTOGP136L, P124Lnot specifiedLikely benign
(Sep 21, 2017)
criteria provided, single submitterVCV000517609
42.
GRCh37:
Chr11:17574752
GRCh38:
Chr11:17553205
OTOGQ127*, Q139*Rare genetic deafnessPathogenic
(Dec 23, 2019)
criteria provided, single submitterVCV000930109
43.
GRCh37:
Chr11:17574758
GRCh38:
Chr11:17553211
OTOGV141M, V129MMeniere disease, Deafness, autosomal recessive 18b, not specified,
not provided
Conflicting interpretations of pathogenicity
(Dec 8, 2020)
criteria provided, conflicting interpretationsVCV000229094
44.
GRCh37:
Chr11:17574765
GRCh38:
Chr11:17553218
OTOGnot provided, not specifiedBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000226893
45.
GRCh37:
Chr11:17574921
GRCh38:
Chr11:17553374
OTOGA144V, A132Vnot specifiedLikely benign
(Aug 18, 2015)
criteria provided, single submitterVCV000227781
46.
GRCh37:
Chr11:17574923
GRCh38:
Chr11:17553376
OTOGG145S, G133SHearing impairment, not provided, not specified,
Deafness, autosomal recessive 18b
Uncertain significance
(Apr 12, 2021)
criteria provided, multiple submitters, no conflictsVCV000417886
47.
GRCh37:
Chr11:17574947
GRCh38:
Chr11:17553400
OTOGR153W, R141Wnot specified, not providedUncertain significance
(Nov 9, 2021)
criteria provided, multiple submitters, no conflictsVCV000930162
48.
GRCh37:
Chr11:17574948
GRCh38:
Chr11:17553401
OTOGR141Q, R153Qnot specifiedUncertain significance
(Nov 10, 2020)
criteria provided, single submitterVCV001120071
49.
GRCh37:
Chr11:17574952
GRCh38:
Chr11:17553405
OTOGnot providedLikely benign
(Nov 18, 2020)
criteria provided, single submitterVCV001207691
50.
GRCh37:
Chr11:17574954
GRCh38:
Chr11:17553407
OTOGQ145fs, Q157fsnot providedPathogenic
(Sep 13, 2021)
criteria provided, single submitterVCV000817689
51.
GRCh37:
Chr11:17574967
GRCh38:
Chr11:17553420
OTOGnot providedLikely benign
(Dec 28, 2020)
criteria provided, multiple submitters, no conflictsVCV000756460
52.
GRCh37:
Chr11:17574976
GRCh38:
Chr11:17553429
OTOGnot providedUncertain significance
(Nov 28, 2017)
criteria provided, single submitterVCV000595057
53.
GRCh37:
Chr11:17574985
GRCh38:
Chr11:17553438
OTOGnot specifiedLikely benign
(Sep 4, 2017)
criteria provided, single submitterVCV000505189
54.
GRCh37:
Chr11:17575020
GRCh38:
Chr11:17553473
OTOGT177N, T165Nnot specifiedUncertain significance
(Jul 25, 2017)
criteria provided, single submitterVCV000517465
55.
GRCh37:
Chr11:17575024
GRCh38:
Chr11:17553477
OTOGV167fsRare genetic deafness, not provided, Deafness, autosomal recessive 18b
Likely pathogenic
(Nov 8, 2021)
criteria provided, multiple submitters, no conflictsVCV000228284
56.
GRCh37:
Chr11:17575042
GRCh38:
Chr11:17553495
OTOGnot providedLikely benign
(Feb 8, 2021)
criteria provided, single submitterVCV001185111
57.
GRCh37:
Chr11:17575053
GRCh38:
Chr11:17553506
OTOGS188T, S176Tnot specifiedLikely benign
(Aug 12, 2015)
criteria provided, single submitterVCV000227787
58.
GRCh37:
Chr11:17575060
GRCh38:
Chr11:17553513
OTOGnot specified, not providedBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000504777
59.
GRCh37:
Chr11:17575074
GRCh38:
Chr11:17553527
OTOGnot specifiedLikely benign
(Jan 12, 2017)
criteria provided, single submitterVCV000517151
60.
GRCh37:
Chr11:17575239
GRCh38:
Chr11:17553692
OTOGnot providedLikely benign
(Apr 9, 2019)
criteria provided, single submitterVCV001213497
61.
GRCh37:
Chr11:17577085
GRCh38:
Chr11:17555538
OTOGnot providedBenign
(Dec 24, 2018)
criteria provided, single submitterVCV001255018
62.
GRCh37:
Chr11:17577193
GRCh38:
Chr11:17555646
OTOGnot providedLikely benign
(Feb 14, 2019)
criteria provided, single submitterVCV001190392
63.
GRCh37:
Chr11:17577223
GRCh38:
Chr11:17555676
OTOGnot providedBenign
(Dec 12, 2018)
criteria provided, single submitterVCV001288918
64.
GRCh37:
Chr11:17577238
GRCh38:
Chr11:17555691
OTOGnot providedBenign
(Feb 24, 2019)
criteria provided, single submitterVCV001235992
65.
GRCh37:
Chr11:17577305
GRCh38:
Chr11:17555758
OTOGnot providedLikely benign
(May 9, 2019)
criteria provided, single submitterVCV001190154
66.
GRCh37:
Chr11:17577335
GRCh38:
Chr11:17555788
OTOGD184N, D196Nnot providedUncertain significanceno assertion criteria providedVCV001297667
67.
GRCh37:
Chr11:17577376
GRCh38:
Chr11:17555829
OTOGnot providedLikely benign
(Jan 6, 2021)
criteria provided, single submitterVCV000680375
68.
GRCh37:
Chr11:17577384-17577386
GRCh38:
Chr11:17555837-17555839
OTOGF214del, F202delnot provided, not specified, Deafness, autosomal recessive 18b
Uncertain significance
(Feb 17, 2021)
criteria provided, multiple submitters, no conflictsVCV000596372
69.
GRCh37:
Chr11:17577424
GRCh38:
Chr11:17555877
OTOGE225D, E213Dnot specified, not providedBenign/Likely benign
(Jan 18, 2021)
criteria provided, multiple submitters, no conflictsVCV000227791
70.
GRCh37:
Chr11:17577467
GRCh38:
Chr11:17555920
OTOGnot providedLikely benign
(Aug 6, 2018)
criteria provided, single submitterVCV001207537
71.
GRCh37:
Chr11:17577654
GRCh38:
Chr11:17556107
OTOGnot providedLikely benign
(May 9, 2019)
criteria provided, single submitterVCV001207117
72.
GRCh37:
Chr11:17578693
GRCh38:
Chr11:17557146
OTOGA242T, A230Tnot specified, not providedBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000226906
73.
GRCh37:
Chr11:17578769
GRCh38:
Chr11:17557222
OTOGS267L, S255Lnot specifiedUncertain significance
(Jan 16, 2019)
criteria provided, single submitterVCV000667298
74.
GRCh37:
Chr11:17578774
GRCh38:
Chr11:17557227
OTOGV269I, V257IMeniere disease, not provided, not specified
Conflicting interpretations of pathogenicity
(Jan 1, 2020)
criteria provided, conflicting interpretationsVCV000226914
75.
GRCh37:
Chr11:17578788
GRCh38:
Chr11:17557241
OTOGM273I, M261Inot specifiedLikely benign
(Sep 22, 2017)
criteria provided, single submitterVCV000504838
76.
GRCh37:
Chr11:17578848
GRCh38:
Chr11:17557301
OTOGnot specified, not providedBenign/Likely benign
(Jun 8, 2021)
criteria provided, multiple submitters, no conflictsVCV000226924
77.
GRCh37:
Chr11:17579437
GRCh38:
Chr11:17557890
OTOGnot providedLikely benign
(Apr 20, 2019)
criteria provided, single submitterVCV001193719
78.
GRCh37:
Chr11:17579651
GRCh38:
Chr11:17558104
OTOGnot providedLikely benign
(Dec 1, 2018)
criteria provided, single submitterVCV001219973
79.
GRCh37:
Chr11:17579745
GRCh38:
Chr11:17558198
OTOGnot specified, not providedLikely benign
(Feb 24, 2021)
criteria provided, multiple submitters, no conflictsVCV000504778
80.
GRCh37:
Chr11:17579748
GRCh38:
Chr11:17558201
OTOGD294E, D306EHearing impairmentUncertain significance
(Apr 12, 2021)
criteria provided, single submitterVCV001065102
81.
GRCh37:
Chr11:17579749
GRCh38:
Chr11:17558202
OTOGV307M, V295Mnot providedUncertain significance
(May 11, 2020)
criteria provided, single submitterVCV000450925
82.
GRCh37:
Chr11:17579765
GRCh38:
Chr11:17558218
OTOGH312R, H300RDeafness, autosomal recessive 18b, not provided, not specified
Likely benign
(Apr 29, 2021)
criteria provided, multiple submitters, no conflictsVCV000229109
83.
GRCh37:
Chr11:17579782
GRCh38:
Chr11:17558235
OTOGA318T, A306TDeafness, autosomal recessive 18bUncertain significance
(Oct 19, 2015)
no assertion criteria providedVCV000417896
84.
GRCh37:
Chr11:17579783
GRCh38:
Chr11:17558236
OTOGA318D, A306Dnot specifiedBenign
(Aug 3, 2017)
criteria provided, multiple submitters, no conflictsVCV000226925
85.
GRCh37:
Chr11:17579786
GRCh38:
Chr11:17558239
OTOGP307L, P319Lnot providedUncertain significance
(Sep 25, 2020)
criteria provided, single submitterVCV001196554
86.
GRCh37:
Chr11:17579803
GRCh38:
Chr11:17558256
OTOGP325T, P313Tnot specified, not providedConflicting interpretations of pathogenicity
(Jul 31, 2020)
criteria provided, conflicting interpretationsVCV000500840
87.
GRCh37:
Chr11:17579804
GRCh38:
Chr11:17558257
OTOGP325L, P313Lnot specified, not providedUncertain significance
(Aug 7, 2019)
criteria provided, multiple submitters, no conflictsVCV000229110
88.
GRCh37:
Chr11:17579832
GRCh38:
Chr11:17558285
OTOGnot providedLikely benign
(Nov 30, 2020)
criteria provided, single submitterVCV001189209
89.
GRCh37:
Chr11:17579862
GRCh38:
Chr11:17558315
OTOGQ332H, Q344HDeafness, autosomal recessive 18bUncertain significance
(Jul 8, 2020)
criteria provided, single submitterVCV000979184
90.
GRCh37:
Chr11:17579871
GRCh38:
Chr11:17558324
OTOGnot specified, not providedBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000226858
91.
GRCh37:
Chr11:17579940
GRCh38:
Chr11:17558393
OTOGnot providedBenign
(Jun 29, 2018)
criteria provided, single submitterVCV001226002
92.
GRCh37:
Chr11:17580050
GRCh38:
Chr11:17558503
OTOGnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000682654
93.
GRCh37:
Chr11:17580093
GRCh38:
Chr11:17558546
OTOGY347*, Y335*not providedLikely pathogenic
(Dec 8, 2017)
criteria provided, single submitterVCV000489156
94.
GRCh37:
Chr11:17580112
GRCh38:
Chr11:17558565
OTOGnot specifiedLikely benign
(Feb 25, 2016)
criteria provided, single submitterVCV000227760
95.
GRCh37:
Chr11:17580130
GRCh38:
Chr11:17558583
OTOGA360T, A348Tnot provided, not specifiedConflicting interpretations of pathogenicity
(Sep 12, 2018)
criteria provided, conflicting interpretationsVCV000227761
96.
GRCh37:
Chr11:17580138
GRCh38:
Chr11:17558591
OTOGnot provided, not specifiedBenign/Likely benign
(Jun 5, 2020)
criteria provided, multiple submitters, no conflictsVCV000514533
97.
GRCh37:
Chr11:17580139
GRCh38:
Chr11:17558592
OTOGA351T, A363Tnot specifiedBenign
(Apr 12, 2018)
criteria provided, single submitterVCV000666632
98.
GRCh37:
Chr11:17580147
GRCh38:
Chr11:17558600
OTOGnot specified, not providedBenign
(Mar 11, 2020)
criteria provided, multiple submitters, no conflictsVCV000226859
99.
GRCh37:
Chr11:17580151
GRCh38:
Chr11:17558604
OTOGP367S, P355Snot providedUncertain significance
(Nov 3, 2016)
criteria provided, single submitterVCV000377072
100.
GRCh37:
Chr11:17580175
GRCh38:
Chr11:17558628
OTOGT375S, T363Snot specifiedBenign
(Aug 3, 2017)
criteria provided, multiple submitters, no conflictsVCV000226860
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