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Items: 1 to 100 of 762

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr7:107302250
GRCh38:
Chr7:107661805
SLC26A4not provided, Pendred syndromePathogenic/Likely pathogenic
(May 29, 2019)
criteria provided, multiple submitters, no conflictsVCV000188838
2.
GRCh37:
Chr7:107302252
GRCh38:
Chr7:107661807
SLC26A4Pendred syndromeLikely pathogenic
(Aug 22, 2017)
criteria provided, single submitterVCV000553446
3.
GRCh37:
Chr7:107302252
GRCh38:
Chr7:107661807
SLC26A4Pendred syndrome, Rare genetic deafness, not provided
Pathogenic
(May 20, 2020)
criteria provided, multiple submitters, no conflictsVCV000043518
4.
GRCh37:
Chr7:107302400
GRCh38:
Chr7:107661955
SLC26A4not providedBenign
(Dec 23, 2018)
criteria provided, single submitterVCV001296884
5.
GRCh37:
Chr7:107303622
GRCh38:
Chr7:107663177
SLC26A4not providedBenign
(Nov 29, 2018)
criteria provided, single submitterVCV001239194
6.
GRCh37:
Chr7:107303628
GRCh38:
Chr7:107663183
SLC26A4not providedBenign
(Nov 29, 2018)
criteria provided, single submitterVCV001228891
7.
GRCh37:
Chr7:107303728
GRCh38:
Chr7:107663283
SLC26A4Pendred syndromeUncertain significance
(Dec 19, 2017)
criteria provided, single submitterVCV000555664
8.
GRCh37:
Chr7:107303738
GRCh38:
Chr7:107663293
SLC26A4Pendred syndromeUncertain significance
(May 16, 2017)
criteria provided, single submitterVCV000551949
9.
GRCh37:
Chr7:107303739
GRCh38:
Chr7:107663294
SLC26A4Pendred syndromeLikely pathogenic
(Apr 30, 2014)
criteria provided, single submitterVCV000188772
10.
GRCh37:
Chr7:107303740
GRCh38:
Chr7:107663295
SLC26A4Pendred syndrome, not providedPathogenic/Likely pathogenic
(Aug 25, 2020)
criteria provided, multiple submitters, no conflictsVCV000828068
11.
GRCh37:
Chr7:107303746
GRCh38:
Chr7:107663301
SLC26A4S57*not providedPathogenic
(Sep 9, 2020)
criteria provided, single submitterVCV001075541
12.
GRCh37:
Chr7:107303746
GRCh38:
Chr7:107663301
SLC26A4S57*Rare genetic deafness, Pendred syndromeLikely pathogenic
(Jan 8, 2016)
criteria provided, multiple submitters, no conflictsVCV000043522
13.
GRCh37:
Chr7:107303757
GRCh38:
Chr7:107663312
SLC26A4A61Snot providedUncertain significance
(Jan 11, 2021)
criteria provided, single submitterVCV001313782
14.
GRCh37:
Chr7:107303759
GRCh38:
Chr7:107663314
SLC26A4not specified, not providedLikely benign
(Nov 13, 2020)
criteria provided, multiple submitters, no conflictsVCV000511749
15.
GRCh37:
Chr7:107303763
GRCh38:
Chr7:107663318
SLC26A4G63SPendred syndromeUncertain significance
(Aug 14, 2020)
no assertion criteria providedVCV000990098
16.
GRCh37:
Chr7:107303764
GRCh38:
Chr7:107663319
SLC26A4G63ADeafness, autosomal recessive 4, with enlarged vestibular aqueduct, Pendred syndromeUncertain significance
(Jul 22, 2021)
criteria provided, single submitterVCV001209839
17.
GRCh37:
Chr7:107303766
GRCh38:
Chr7:107663321
SLC26A4V64MPendred syndrome, Deafness, autosomal recessive 4, with enlarged vestibular aqueductUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000911848
18.
GRCh37:
Chr7:107303775
GRCh38:
Chr7:107663330
SLC26A4T67PCongenital hypothyroidismBenignno assertion criteria providedVCV000988646
19.
GRCh37:
Chr7:107303776
GRCh38:
Chr7:107663331
SLC26A4T67Snot specified, not provided, Pendred syndrome
Likely benign
(Sep 22, 2020)
reviewed by expert panel
FDA Recognized Database
VCV000043531
20.
GRCh37:
Chr7:107303777
GRCh38:
Chr7:107663332
SLC26A4not providedLikely benign
(Sep 28, 2020)
criteria provided, single submitterVCV001112894
21.
GRCh37:
Chr7:107303785
GRCh38:
Chr7:107663340
SLC26A4P70Lnot specifiedUncertain significance
(Apr 28, 2009)
criteria provided, single submitterVCV000043537
22.
GRCh37:
Chr7:107303801
GRCh38:
Chr7:107663356
SLC26A4Pendred syndrome, Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, not provided,
Hearing impairment
Conflicting interpretations of pathogenicity
(May 18, 2021)
criteria provided, conflicting interpretationsVCV000225473
23.
GRCh37:
Chr7:107303802
GRCh38:
Chr7:107663357
SLC26A4P76SDeafness, autosomal recessive 4, with enlarged vestibular aqueductPathogenic
(Jul 1, 2017)
criteria provided, single submitterVCV000446451
24.
GRCh37:
Chr7:107303803
GRCh38:
Chr7:107663358
SLC26A4P76Rnot providedUncertain significance
(Jan 11, 2018)
criteria provided, single submitterVCV001018778
25.
GRCh37:
Chr7:107303803
GRCh38:
Chr7:107663358
SLC26A4P76LPendred syndromeLikely pathogenic
(Mar 7, 2017)
criteria provided, single submitterVCV000551009
26.
GRCh37:
Chr7:107303811
GRCh38:
Chr7:107663366
SLC26A4R79*Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, Pendred syndromePathogenic/Likely pathogenic
(Jan 1, 2019)
criteria provided, multiple submitters, no conflictsVCV000188950
27.
GRCh37:
Chr7:107303812
GRCh38:
Chr7:107663367
SLC26A4R79Qnot provided, Pendred syndromeUncertain significance
(May 26, 2017)
criteria provided, multiple submitters, no conflictsVCV000502106
28.
GRCh37:
Chr7:107303823
GRCh38:
Chr7:107663378
SLC26A4W83Gnot providedUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000810172
29.
GRCh37:
Chr7:107303825
GRCh38:
Chr7:107663380
SLC26A4W83*not provided, Pendred syndromePathogenic
(Jan 25, 2019)
criteria provided, multiple submitters, no conflictsVCV000370650
30.
GRCh37:
Chr7:107303834
GRCh38:
Chr7:107663389
SLC26A4not providedLikely benign
(Oct 16, 2020)
criteria provided, single submitterVCV001161124
31.
GRCh37:
Chr7:107303835
GRCh38:
Chr7:107663390
SLC26A4D87YPendred syndromeLikely pathogenic
(Jul 5, 2017)
criteria provided, single submitterVCV000552777
32.
GRCh37:
Chr7:107303836
GRCh38:
Chr7:107663391
SLC26A4D87Gnot specifiedUncertain significance
(Mar 1, 2008)
criteria provided, single submitterVCV000043548
33.
GRCh37:
Chr7:107303837
GRCh38:
Chr7:107663392
SLC26A4not providedLikely benign
(Jun 4, 2020)
criteria provided, single submitterVCV001086987
34.
GRCh37:
Chr7:107303845
GRCh38:
Chr7:107663400
SLC26A4S90LDeafness, autosomal recessive 4, with enlarged vestibular aqueduct, Pendred syndromeLikely pathogenic
(Jun 20, 2014)
criteria provided, multiple submitters, no conflictsVCV000188842
35.
GRCh37:
Chr7:107303849
GRCh38:
Chr7:107663404
SLC26A4not providedLikely benign
(Dec 28, 2018)
criteria provided, single submitterVCV000797613
36.
GRCh37:
Chr7:107303853
GRCh38:
Chr7:107663408
SLC26A4S93Rnot providedUncertain significance
(Jul 5, 2019)
criteria provided, single submitterVCV001306735
37.
GRCh37:
Chr7:107303854
GRCh38:
Chr7:107663409
SLC26A4S93NDeafness, autosomal recessive 4, with enlarged vestibular aqueduct, Pendred syndromeUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000908903
38.
GRCh37:
Chr7:107303855
GRCh38:
Chr7:107663410
SLC26A4S93fsnot specified, not provided, Pendred syndrome
Pathogenic/Likely pathogenic
(Jan 21, 2020)
criteria provided, multiple submitters, no conflictsVCV000188715
39.
GRCh37:
Chr7:107303857
GRCh38:
Chr7:107663412
SLC26A4T94IPendred syndrome, Deafness, autosomal recessive 4, with enlarged vestibular aqueductPathogenic
(Jun 10, 2016)
criteria provided, single submitterVCV000371034
40.
GRCh37:
Chr7:107303859
GRCh38:
Chr7:107663414
SLC26A4G95Rnot specifiedUncertain significance
(Jan 7, 2011)
criteria provided, single submitterVCV000043549
41.
GRCh37:
Chr7:107303864
GRCh38:
Chr7:107663419
SLC26A4not providedLikely benign
(Jun 29, 2020)
criteria provided, single submitterVCV001158947
42.
GRCh37:
Chr7:107303868-107303872
GRCh38:
Chr7:107663423-107663427
SLC26A4T99fsPendred syndrome, Rare genetic deafnessPathogenic
(Nov 8, 2015)
criteria provided, single submitterVCV000043551
43.
GRCh37:
Chr7:107303872
GRCh38:
Chr7:107663427
SLC26A4T99RDeafness, autosomal recessive 4, with enlarged vestibular aqueductPathogenic, Affects
(Aug 20, 2019)
no assertion criteria providedVCV000417623
44.
GRCh37:
Chr7:107303873
GRCh38:
Chr7:107663428
SLC26A4not providedLikely benign
(May 21, 2020)
criteria provided, single submitterVCV001154523
45.
GRCh37:
Chr7:107303873
GRCh38:
Chr7:107663428
SLC26A4not provided, not specifiedLikely benign
(Oct 14, 2020)
criteria provided, multiple submitters, no conflictsVCV000043552
46.
GRCh37:
Chr7:107303875
GRCh38:
Chr7:107663430
SLC26A4L100PHearing impairmentLikely pathogenic
(Mar 27, 2015)
criteria provided, single submitterVCV000373979
47.
GRCh37:
Chr7:107303877
GRCh38:
Chr7:107663432
SLC26A4Q101*not providedPathogenic
(Aug 13, 2018)
criteria provided, single submitterVCV000620294
48.
GRCh37:
Chr7:107303880
GRCh38:
Chr7:107663435
SLC26A4G102Rnot specifiedLikely pathogenic
(Feb 11, 2020)
criteria provided, single submitterVCV001301849
49.
GRCh37:
Chr7:107303882
GRCh38:
Chr7:107663437
SLC26A4Pendred syndrome, not providedPathogenic/Likely pathogenic
(Mar 5, 2019)
criteria provided, multiple submitters, no conflictsVCV000189167
50.
GRCh37:
Chr7:107303887
GRCh38:
Chr7:107663442
SLC26A4not providedLikely benign
(Jul 21, 2020)
criteria provided, single submitterVCV001157729
51.
GRCh37:
Chr7:107303890
GRCh38:
Chr7:107663445
SLC26A4not providedLikely benign
(Nov 10, 2020)
criteria provided, single submitterVCV001138843
52.
GRCh37:
Chr7:107304196
GRCh38:
Chr7:107663751
SLC26A4not providedBenign
(Nov 29, 2018)
criteria provided, single submitterVCV001279156
53.
GRCh37:
Chr7:107312382
GRCh38:
Chr7:107671937
SLC26A4not providedLikely benign
(Dec 23, 2018)
criteria provided, single submitterVCV001217017
54.
GRCh37:
Chr7:107312582
GRCh38:
Chr7:107672137
SLC26A4not providedLikely pathogenic
(Jul 28, 2020)
criteria provided, single submitterVCV001066167
55.
GRCh37:
Chr7:107312583-107312693
GRCh38:
Chr7:107672138-107672248
SLC26A4Rare genetic deafnessLikely pathogenic
(May 2, 2017)
criteria provided, single submitterVCV000517189
56.
GRCh37:
Chr7:107312584
GRCh38:
Chr7:107672139
SLC26A4not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV000756789
57.
GRCh37:
Chr7:107312588
GRCh38:
Chr7:107672143
SLC26A4A104TDeafness, autosomal recessive 4, with enlarged vestibular aqueduct, Pendred syndromeUncertain significance
(Apr 28, 2017)
criteria provided, single submitterVCV000908904
58.
GRCh37:
Chr7:107312590
GRCh38:
Chr7:107672145
SLC26A4not providedLikely benign
(Aug 20, 2020)
criteria provided, single submitterVCV001161764
59.
GRCh37:
Chr7:107312595
GRCh38:
Chr7:107672150
SLC26A4A106DDeafness, autosomal recessive 4, with enlarged vestibular aqueductPathogeniccriteria provided, single submitterVCV001065204
60.
GRCh37:
Chr7:107312595
GRCh38:
Chr7:107672150
SLC26A4A106VDeafness, Deafness, autosomal recessivePathogenic/Likely pathogenic
(Sep 10, 2018)
no assertion criteria providedVCV000560910
61.
GRCh37:
Chr7:107312600
GRCh38:
Chr7:107672155
SLC26A4not specified, not providedLikely benign
(Dec 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000043554
62.
GRCh37:
Chr7:107312606
GRCh38:
Chr7:107672161
SLC26A4A110TPendred syndromeUncertain significance
(Mar 26, 2018)
criteria provided, single submitterVCV000557456
63.
GRCh37:
Chr7:107312617
GRCh38:
Chr7:107672172
SLC26A4not providedLikely benign
(Oct 20, 2020)
criteria provided, single submitterVCV000798379
64.
GRCh37:
Chr7:107312618
GRCh38:
Chr7:107672173
SLC26A4G114Rnot providedUncertain significance
(Oct 28, 2020)
criteria provided, single submitterVCV001196044
65.
GRCh37:
Chr7:107312625
GRCh38:
Chr7:107672180
SLC26A4G116Dnot providedUncertain significanceno assertion criteria providedVCV001297681
66.
GRCh37:
Chr7:107312627
GRCh38:
Chr7:107672182
SLC26A4L117fsPendred syndromePathogenic
(May 10, 2017)
criteria provided, single submitterVCV000551863
67.
GRCh37:
Chr7:107312627
GRCh38:
Chr7:107672182
SLC26A4L117FRare genetic deafness, not specified, Deafness, autosomal recessive 4, with enlarged vestibular aqueduct,
Pendred syndrome
Likely pathogenic
(Sep 26, 2018)
reviewed by expert panel
FDA Recognized Database
VCV000043555
68.
GRCh37:
Chr7:107312635
GRCh38:
Chr7:107672190
SLC26A4not providedLikely benign
(Jun 7, 2020)
criteria provided, single submitterVCV001150956
69.
GRCh37:
Chr7:107312637-107312638
GRCh38:
Chr7:107672192-107672193
SLC26A4I124fsPendred syndrome, not providedPathogenic
(Sep 10, 2018)
reviewed by expert panel
FDA Recognized Database
VCV000189148
70.
GRCh37:
Chr7:107312638
GRCh38:
Chr7:107672193
SLC26A4F122fsnot providedPathogenic
(May 14, 2020)
criteria provided, single submitterVCV001069540
71.
GRCh37:
Chr7:107312642
GRCh38:
Chr7:107672197
SLC26A4F122LDeafness, autosomal recessive 4, with enlarged vestibular aqueduct, Pendred syndromeUncertain significance
(Jan 15, 2018)
criteria provided, single submitterVCV000908905
72.
GRCh37:
Chr7:107312645
GRCh38:
Chr7:107672200
SLC26A4P123SDeafness, autosomal recessive 4, with enlarged vestibular aqueductAffects
(Aug 20, 2019)
no assertion criteria providedVCV000691506
73.
GRCh37:
Chr7:107312649
GRCh38:
Chr7:107672204
SLC26A4I124NDeafness, autosomal recessive 4, with enlarged vestibular aqueduct, Pendred syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000358494
74.
GRCh37:
Chr7:107312660-107312662
GRCh38:
Chr7:107672215-107672217
SLC26A4F128fsnot providedPathogenic
(Sep 20, 2016)
criteria provided, single submitterVCV000291238
75.
GRCh37:
Chr7:107312665
GRCh38:
Chr7:107672220
SLC26A4F130fsDeafness, autosomal recessive 4, with enlarged vestibular aqueductPathogenicno assertion criteria providedVCV001065207
76.
GRCh37:
Chr7:107312669
GRCh38:
Chr7:107672224
SLC26A4G131RPendred syndromeUncertain significance
(Jun 30, 2017)
criteria provided, single submitterVCV000552696
77.
GRCh37:
Chr7:107312670
GRCh38:
Chr7:107672225
SLC26A4G131VDeafness, autosomal recessive 4, with enlarged vestibular aqueductAffects
(Aug 20, 2019)
no assertion criteria providedVCV000691507
78.
GRCh37:
Chr7:107312673
GRCh38:
Chr7:107672228
SLC26A4T132IPendred syndromeUncertain significance
(Jan 17, 2017)
criteria provided, single submitterVCV000550080
79.
GRCh37:
Chr7:107312675-107312676
GRCh38:
Chr7:107672230-107672231
SLC26A4S133fsRare genetic deafnessLikely pathogenic
(Sep 19, 2008)
criteria provided, single submitterVCV000043556
80.
GRCh37:
Chr7:107312675
GRCh38:
Chr7:107672230
SLC26A4S133TDeafness, autosomal recessive 4, with enlarged vestibular aqueduct, Pendred syndromeLikely pathogenic
(May 3, 2017)
criteria provided, single submitterVCV000004834
81.
GRCh37:
Chr7:107312678
GRCh38:
Chr7:107672233
SLC26A4R134GPendred syndromeUncertain significance
(Oct 24, 2017)
criteria provided, single submitterVCV000554308
82.
GRCh37:
Chr7:107312680
GRCh38:
Chr7:107672235
SLC26A4not providedLikely benign
(Jul 7, 2020)
criteria provided, single submitterVCV001156368
83.
GRCh37:
Chr7:107312684
GRCh38:
Chr7:107672239
SLC26A4I136Vnot providedUncertain significance
(Nov 27, 2020)
criteria provided, single submitterVCV001215297
84.
GRCh37:
Chr7:107312687
GRCh38:
Chr7:107672242
SLC26A4S137PPendred syndromeUncertain significance
(Mar 10, 2017)
criteria provided, single submitterVCV000551096
85.
GRCh37:
Chr7:107312690-107312710
GRCh38:
Chr7:107672245-107672265
SLC26A4not providedPathogenic
(Aug 3, 2020)
criteria provided, single submitterVCV001069942
86.
GRCh37:
Chr7:107312690
GRCh38:
Chr7:107672245
SLC26A4V138LPendred syndromeLikely pathogenic
(Jan 10, 2018)
criteria provided, single submitterVCV000556058
87.
GRCh37:
Chr7:107312690
GRCh38:
Chr7:107672245
SLC26A4V138FPendred syndrome, Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, not provided,
Rare genetic deafness, SLC26A4-Related Disorders, Hearing impairment,
Pendred syndrome
Pathogenic
(Sep 19, 2018)
reviewed by expert panel
FDA Recognized Database
VCV000004835
88.
GRCh37:
Chr7:107312691
GRCh38:
Chr7:107672246
SLC26A4V138DDeafness, autosomal recessiveLikely pathogenicno assertion criteria providedVCV000996637
89.
GRCh37:
Chr7:107312695
GRCh38:
Chr7:107672250
SLC26A4Deafness, autosomal recessive 4, with enlarged vestibular aqueductPathogenicno assertion criteria providedVCV001065211
90.
GRCh37:
Chr7:107312695-107312700
GRCh38:
Chr7:107672250-107672255
SLC26A4Pendred syndromeUncertain significance
(May 18, 2018)
criteria provided, single submitterVCV000558397
91.
GRCh37:
Chr7:107312697
GRCh38:
Chr7:107672252
SLC26A4not specified, Pendred syndromeUncertain significance
(Sep 14, 2021)
criteria provided, multiple submitters, no conflictsVCV000504512
92.
GRCh37:
Chr7:107312699-107312704
GRCh38:
Chr7:107672254-107672259
SLC26A4not providedLikely benign
(Oct 26, 2020)
criteria provided, single submitterVCV001124144
93.
GRCh37:
Chr7:107312700
GRCh38:
Chr7:107672255
SLC26A4Pendred syndromePathogenic
(Jan 1, 1999)
no assertion criteria providedVCV000004828
94.
GRCh37:
Chr7:107312768
GRCh38:
Chr7:107672323
SLC26A4not providedLikely benign
(Jul 17, 2018)
criteria provided, single submitterVCV001207083
95.
GRCh37:
Chr7:107314413
GRCh38:
Chr7:107673968
SLC26A4not providedBenign
(Dec 10, 2018)
criteria provided, single submitterVCV001251718
96.
GRCh37:
Chr7:107314427-107314428
GRCh38:
Chr7:107673982-107673983
SLC26A4not providedLikely benign
(Nov 5, 2019)
criteria provided, single submitterVCV001191491
97.
GRCh37:
Chr7:107314486
GRCh38:
Chr7:107674041
SLC26A4not providedLikely benign
(Jan 13, 2019)
criteria provided, single submitterVCV001183165
98.
GRCh37:
Chr7:107314593
GRCh38:
Chr7:107674148
SLC26A4Pendred syndrome, not specified, not provided
Benign/Likely benign
(Feb 14, 2018)
criteria provided, multiple submitters, no conflictsVCV000445575
99.
GRCh37:
Chr7:107314596
GRCh38:
Chr7:107674151
SLC26A4not providedLikely benign
(Apr 1, 2020)
criteria provided, single submitterVCV001214249
100.
GRCh37:
Chr7:107314596
GRCh38:
Chr7:107674151
SLC26A4not specified, not provided, Pendred syndrome,
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
Conflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretationsVCV000043557
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