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Links from MedGen

Items: 84

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:100811830
GRCh38:
Chr12:100418052
SLC17A8I391V, I441VAutosomal dominant nonsyndromic hearing loss 25, not providedUncertain significance
(Sep 24, 2021)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr12:100811839
GRCh38:
Chr12:100418061
SLC17A8R394C, R444CAutosomal dominant nonsyndromic hearing loss 25, not providedUncertain significance
(Sep 2, 2022)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr12:100806503
GRCh38:
Chr12:100412725
SLC17A8Autosomal dominant nonsyndromic hearing loss 25, not providedBenign
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr12:100790153
GRCh38:
Chr12:100396375
SLC17A8P212TAutosomal dominant nonsyndromic hearing loss 25Likely pathogenic
(Apr 12, 2019)
criteria provided, single submitter
5.
GRCh37:
Chr12:100790134-100790135
GRCh38:
Chr12:100396356-100396357
SLC17A8M206fsAutosomal dominant nonsyndromic hearing loss 25Pathogenic
(May 12, 2021)
no assertion criteria provided
6.
GRCh37:
Chr12:100815820
GRCh38:
Chr12:100422042
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr12:100815776
GRCh38:
Chr12:100421998
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Likely benign
(Jan 13, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr12:100814146
GRCh38:
Chr12:100420368
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr12:100813812
GRCh38:
Chr12:100420034
SLC17A8G549R, G499Rnot provided, Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Oct 3, 2023)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr12:100813786
GRCh38:
Chr12:100420008
SLC17A8A490V, A540VAutosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr12:100813612
GRCh38:
Chr12:100419834
SLC17A8N482T, N432TAutosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr12:100813597
GRCh38:
Chr12:100419819
SLC17A8R477H, R427HAutosomal dominant nonsyndromic hearing loss 25, Inborn genetic diseasesUncertain significance
(Jun 6, 2023)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr12:100774501
GRCh38:
Chr12:100380723
SLC17A8E42KAutosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
14.
GRCh37:
Chr12:100774487
GRCh38:
Chr12:100380709
SLC17A8D37GAutosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 15, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr12:100774486
GRCh38:
Chr12:100380708
SLC17A8D37Nnot provided, Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Nov 11, 2019)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr12:100815180
GRCh38:
Chr12:100421402
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Likely benign
(Jan 13, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr12:100815160
GRCh38:
Chr12:100421382
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr12:100811840
GRCh38:
Chr12:100418062
SLC17A8R394L, R444LAutosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr12:100797868
GRCh38:
Chr12:100404090
SLC17A8I369T, I319TInborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Apr 5, 2023)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr12:100751098
GRCh38:
Chr12:100357320
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr12:100751077
GRCh38:
Chr12:100357299
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr12:100750924
GRCh38:
Chr12:100357146
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Likely benign
(Jan 13, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr12:100815027
GRCh38:
Chr12:100421249
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Likely benign
(Jan 12, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr12:100815014
GRCh38:
Chr12:100421236
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr12:100814608
GRCh38:
Chr12:100420830
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr12:100814479
GRCh38:
Chr12:100420701
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr12:100814478
GRCh38:
Chr12:100420700
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 15, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr12:100796262
GRCh38:
Chr12:100402484
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr12:100796120
GRCh38:
Chr12:100402342
SLC17A8M256Lnot provided, Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Apr 16, 2021)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr12:100750875
GRCh38:
Chr12:100357097
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr12:100750859
GRCh38:
Chr12:100357081
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr12:100814477
GRCh38:
Chr12:100420699
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr12:100814417
GRCh38:
Chr12:100420639
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Likely benign
(Jan 13, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr12:100814410
GRCh38:
Chr12:100420632
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Likely benign
(Jan 13, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr12:100795565
GRCh38:
Chr12:100401787
SLC17A8Autosomal dominant nonsyndromic hearing loss 25, not providedConflicting interpretations of pathogenicity
(Apr 8, 2022)
criteria provided, conflicting interpretations
36.
GRCh37:
Chr12:100787239
GRCh38:
Chr12:100393461
SLC17A8R189KAutosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr12:100796258
GRCh38:
Chr12:100402480
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Aug 14, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr12:100774609
GRCh38:
Chr12:100380831
SLC17A8I78Vnot provided, Autosomal dominant nonsyndromic hearing loss 25Likely benign
(Jun 28, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr12:100774547
GRCh38:
Chr12:100380769
SLC17A8T57Mnot provided, Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr12:100815653
GRCh38:
Chr12:100421875
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr12:100815524
GRCh38:
Chr12:100421746
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr12:100815439
GRCh38:
Chr12:100421661
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr12:100815423
GRCh38:
Chr12:100421645
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr12:100815243
GRCh38:
Chr12:100421465
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr12:100815232
GRCh38:
Chr12:100421454
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Benign
(Jan 13, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr12:100815077
GRCh38:
Chr12:100421299
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr12:100814754
GRCh38:
Chr12:100420976
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Benign
(Jan 12, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr12:100814652
GRCh38:
Chr12:100420874
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr12:100814471
GRCh38:
Chr12:100420693
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr12:100814444
GRCh38:
Chr12:100420666
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Benign
(Jan 13, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr12:100814294
GRCh38:
Chr12:100420516
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr12:100814272
GRCh38:
Chr12:100420494
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr12:100814181
GRCh38:
Chr12:100420403
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr12:100814115
GRCh38:
Chr12:100420337
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr12:100814008
GRCh38:
Chr12:100420230
SLC17A8not provided, Autosomal dominant nonsyndromic hearing loss 25Benign
(Jun 16, 2018)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr12:100813976
GRCh38:
Chr12:100420198
SLC17A8not provided, Autosomal dominant nonsyndromic hearing loss 25Benign
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr12:100806614
GRCh38:
Chr12:100412836
SLC17A8S418F, S368FAutosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr12:100796486
GRCh38:
Chr12:100402708
SLC17A8A339DAutosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr12:100796485
GRCh38:
Chr12:100402707
SLC17A8A339TInborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Oct 6, 2021)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr12:100796428
GRCh38:
Chr12:100402650
SLC17A8I320VAutosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr12:100796383
GRCh38:
Chr12:100402605
SLC17A8T305AAutosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr12:100795640
GRCh38:
Chr12:100401862
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr12:100795601
GRCh38:
Chr12:100401823
SLC17A8not provided, Autosomal dominant nonsyndromic hearing loss 25Benign
(May 5, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr12:100790177
GRCh38:
Chr12:100396399
SLC17A8A220TAutosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jul 20, 2021)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr12:100790157
GRCh38:
Chr12:100396379
SLC17A8P213RAutosomal dominant nonsyndromic hearing loss 25, not specified, not provided
Uncertain significance
(May 23, 2023)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr12:100787203
GRCh38:
Chr12:100393425
SLC17A8A177VAutosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr12:100774738
GRCh38:
Chr12:100380960
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr12:100774598
GRCh38:
Chr12:100380820
SLC17A8K74TInborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Sep 17, 2021)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr12:100774587
GRCh38:
Chr12:100380809
SLC17A8not provided, Autosomal dominant nonsyndromic hearing loss 25Conflicting interpretations of pathogenicity
(Sep 16, 2022)
criteria provided, conflicting interpretations
70.
GRCh37:
Chr12:100774495
GRCh38:
Chr12:100380717
SLC17A8T40Anot provided, Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Nov 23, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr12:100751138
GRCh38:
Chr12:100357360
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr12:100751082
GRCh38:
Chr12:100357304
SLC17A8Autosomal dominant nonsyndromic hearing loss 25Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr12:100750952
GRCh38:
Chr12:100357174
SLC17A8not provided, Autosomal dominant nonsyndromic hearing loss 25Benign
(Apr 7, 2019)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr12:100811913
GRCh38:
Chr12:100418135
SLC17A8not specified, not provided, Autosomal dominant nonsyndromic hearing loss 25
Conflicting interpretations of pathogenicity
(Sep 12, 2022)
criteria provided, conflicting interpretations
75.
GRCh37:
Chr12:100797882
GRCh38:
Chr12:100404104
SLC17A8A374S, A324Snot provided, Autosomal dominant nonsyndromic hearing loss 25Conflicting interpretations of pathogenicity
(Apr 22, 2020)
criteria provided, conflicting interpretations
76.
GRCh37:
Chr12:100796212
GRCh38:
Chr12:100402434
SLC17A8not provided, not specified, Autosomal dominant nonsyndromic hearing loss 25
Benign/Likely benign
(Feb 1, 2023)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr12:100811905
GRCh38:
Chr12:100418127
SLC17A8L466I, L416IInborn genetic diseases, not provided, not specified,
Autosomal dominant nonsyndromic hearing loss 25
Conflicting interpretations of pathogenicity
(Dec 21, 2022)
criteria provided, conflicting interpretations
78.
GRCh37:
Chr12:100751192
GRCh38:
Chr12:100357414
SLC17A8T8Inot specified, not provided, Autosomal dominant nonsyndromic hearing loss 25
Benign
(Sep 19, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr12:100784775
GRCh38:
Chr12:100390997
SLC17A8not specified, not provided, Autosomal dominant nonsyndromic hearing loss 25
Benign
(Oct 29, 2022)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr12:100795589
GRCh38:
Chr12:100401811
SLC17A8not specified, not provided, Autosomal dominant nonsyndromic hearing loss 25
Benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr12:100751223
GRCh38:
Chr12:100357445
SLC17A8not specified, not provided, Autosomal dominant nonsyndromic hearing loss 25
Benign
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr12:100774713
GRCh38:
Chr12:100380935
SLC17A8not specified, not provided, Autosomal dominant nonsyndromic hearing loss 25
Benign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr12:100774548
GRCh38:
Chr12:100380770
SLC17A8not provided, not specified, Autosomal dominant nonsyndromic hearing loss 25
Benign
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr12:100790151
GRCh38:
Chr12:100396373
SLC17A8A211Vnot providedLikely pathogenic
(Jun 26, 2015)
criteria provided, single submitter
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