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Items: 1 to 100 of 508

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
WFS1Diabetes mellitus AND insipidus with optic atrophy AND deafnessPathogenic
(Apr 1, 2001)
no assertion criteria provided
2.
WFS1Diabetes mellitus AND insipidus with optic atrophy AND deafnessPathogenic
(Jun 1, 2011)
no assertion criteria provided
3.
WFS1Wolfram-like syndrome, autosomal dominantPathogenic
(Jan 12, 2010)
no assertion criteria provided
4.
WFS1Wolfram-like syndrome, autosomal dominantPathogenic
(Jun 1, 2008)
no assertion criteria provided
5.
WFS1Diabetes mellitus AND insipidus with optic atrophy AND deafnessPathogenic
(Dec 15, 2008)
no assertion criteria provided
6.
WFS1Diabetes mellitus AND insipidus with optic atrophy AND deafnessPathogenic
(Jun 1, 2003)
no assertion criteria provided
7.
WFS1Diabetes mellitus AND insipidus with optic atrophy AND deafnessPathogenic
(Dec 1, 1998)
no assertion criteria provided
8.
WFS1Diabetes mellitus AND insipidus with optic atrophy AND deafnessPathogenic
(Dec 1, 1998)
no assertion criteria provided
9.
WFS1Diabetes mellitus AND insipidus with optic atrophy AND deafnessPathogenic
(Oct 1, 1998)
no assertion criteria provided
10.
WFS1Diabetes mellitus AND insipidus with optic atrophy AND deafnessPathogenic
(Oct 1, 1998)
no assertion criteria provided
11.
WFS1Diabetes mellitus AND insipidus with optic atrophy AND deafnessPathogenic
(Oct 1, 1998)
no assertion criteria provided
12.
GRCh37:
Chr4:6271606
GRCh38:
Chr4:6269879
WFS1WFS1-Related Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr4:6271614
GRCh38:
Chr4:6269887
WFS1WFS1-Related Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr4:6271617
GRCh38:
Chr4:6269890
WFS1WFS1-Related Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr4:6271618
GRCh38:
Chr4:6269891
WFS1WFS1-Related Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr4:6271641
GRCh38:
Chr4:6269914
WFS1WFS1-Related Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr4:6271642
GRCh38:
Chr4:6269915
WFS1WFS1-Related Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr4:6271647
GRCh38:
Chr4:6269920
WFS1WFS1-Related Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr4:6271692
GRCh38:
Chr4:6269965
WFS1WFS1-Related Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr4:6271720
GRCh38:
Chr4:6269993
WFS1not specifiedLikely benign
(Dec 9, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr4:6271752
GRCh38:
Chr4:6270025
WFS1not specifiedBenign
(Jan 28, 2013)
criteria provided, single submitter
22.
GRCh37:
Chr4:6279179
GRCh38:
Chr4:6277452
WFS1not specifiedUncertain significance
(Dec 6, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr4:6279191
GRCh38:
Chr4:6277464
WFS1not specified, WFS1-Related Spectrum Disorders, Nonsyndromic Hearing Loss, Dominant
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr4:6279202
GRCh38:
Chr4:6277475
WFS1not specified, Monogenic diabetesUncertain significance
(Jul 30, 2015)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr4:6279203
GRCh38:
Chr4:6277476
WFS1not specified, WFS1-Related Spectrum Disorders, Nonsyndromic Hearing Loss, Dominant
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr4:6279210
GRCh38:
Chr4:6277483
WFS1WFS1-Related Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr4:6279223
GRCh38:
Chr4:6277496
WFS1not specified, WFS1-Related Spectrum Disorders, Nonsyndromic Hearing Loss, Dominant
Benign/Likely benign
(Mar 22, 2017)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr4:6279238
GRCh38:
Chr4:6277511
WFS1not specifiedLikely benign
(Sep 26, 2014)
criteria provided, single submitter
29.
GRCh37:
Chr4:6279251
GRCh38:
Chr4:6277524
WFS1not specifiedLikely benign
(Apr 8, 2017)
criteria provided, single submitter
30.
GRCh37:
Chr4:6279252
GRCh38:
Chr4:6277525
WFS1WFS1-Related Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr4:6279265
GRCh38:
Chr4:6277538
WFS1not specifiedUncertain significance
(Feb 22, 2013)
criteria provided, single submitter
32.
GRCh37:
Chr4:6279274
GRCh38:
Chr4:6277547
WFS1not specifiedLikely benign
(Nov 5, 2012)
criteria provided, single submitter
33.
GRCh37:
Chr4:6279277
GRCh38:
Chr4:6277550
WFS1not specifiedUncertain significance
(Dec 3, 2013)
criteria provided, single submitter
34.
GRCh37:
Chr4:6279278
GRCh38:
Chr4:6277551
WFS1not specifiedBenign
(Jul 21, 2015)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr4:6279296
GRCh38:
Chr4:6277569
WFS1not specifiedLikely benign
(Jul 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr4:6279297
GRCh38:
Chr4:6277570
WFS1WFS1-Related Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr4:6279306
GRCh38:
Chr4:6277579
WFS1not providedPathogenic
(Mar 9, 2017)
criteria provided, single submitter
38.
GRCh37:
Chr4:6279306
GRCh38:
Chr4:6277579
WFS1Diabetes mellitus AND insipidus with optic atrophy AND deafness, WFS1-Related Disorders, Wolfram-like syndrome, autosomal dominant,
not provided
Pathogenic/Likely pathogenic
(Apr 10, 2017)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr4:6279307
GRCh38:
Chr4:6277580
WFS1not specifiedLikely benign
(Jun 20, 2017)
criteria provided, single submitter
40.
GRCh37:
Chr4:6279310
GRCh38:
Chr4:6277583
WFS1not specifiedLikely benign
(Nov 6, 2013)
criteria provided, single submitter
41.
GRCh37:
Chr4:6279311
GRCh38:
Chr4:6277584
WFS1not specifiedLikely benign
(May 26, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr4:6279314
GRCh38:
Chr4:6277587
WFS1not specifiedLikely benign
(Jan 20, 2017)
criteria provided, single submitter
43.
GRCh37:
Chr4:6279314
GRCh38:
Chr4:6277587
WFS1WFS1-Related Spectrum Disorders, Nonsyndromic Hearing Loss, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr4:6279325
GRCh38:
Chr4:6277598
WFS1not specifiedConflicting interpretations of pathogenicity
(Jul 13, 2017)
criteria provided, conflicting interpretations
45.
GRCh37:
Chr4:6279350
GRCh38:
Chr4:6277623
WFS1WFS1-Related Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr4:6279351
GRCh38:
Chr4:6277624
WFS1not specifiedUncertain significance
(Dec 5, 2017)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr4:6279351
GRCh38:
Chr4:6277624
WFS1not specifiedLikely benign
(May 18, 2015)
criteria provided, single submitter
48.
GRCh37:
Chr4:6279354
GRCh38:
Chr4:6277627
WFS1Monogenic diabetesUncertain significance
(Oct 11, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr4:6279355
GRCh38:
Chr4:6277628
WFS1not specifiedLikely benign
(Sep 8, 2017)
criteria provided, single submitter
50.
GRCh37:
Chr4:6279407
GRCh38:
Chr4:6277680
WFS1not specifiedBenign
(Apr 9, 2015)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr4:6279409
GRCh38:
Chr4:6277682
WFS1not specified, Monogenic diabetesConflicting interpretations of pathogenicity
(Feb 16, 2018)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr4:6279413
GRCh38:
Chr4:6277686
WFS1not specifiedLikely benign
(Dec 5, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr4:6288878
GRCh38:
Chr4:6287151
WFS1not specifiedLikely benign
(Jan 17, 2017)
criteria provided, single submitter
54.
GRCh37:
Chr4:6288913
GRCh38:
Chr4:6287186
WFS1WFS1-Related Spectrum Disorders, Nonsyndromic Hearing Loss, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr4:6290700
GRCh38:
Chr4:6288973
WFS1not specifiedLikely benign
(May 31, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr4:6290723
GRCh38:
Chr4:6288996
WFS1not specified, Monogenic diabetesConflicting interpretations of pathogenicity
(Jun 1, 2017)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr4:6290728
GRCh38:
Chr4:6289001
WFS1Diabetes mellitus type 2Pathogenic
(Dec 18, 2017)
criteria provided, single submitter
58.
GRCh37:
Chr4:6290740
GRCh38:
Chr4:6289013
WFS1not specifiedBenign/Likely benign
(Dec 28, 2016)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr4:6290743
GRCh38:
Chr4:6289016
WFS1not specifiedLikely benign
(Mar 2, 2017)
criteria provided, single submitter
60.
GRCh37:
Chr4:6290748
GRCh38:
Chr4:6289021
WFS1not specifiedBenign
(Apr 17, 2014)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr4:6290751
GRCh38:
Chr4:6289024
WFS1not specified, Monogenic diabetesBenign/Likely benign
(Feb 21, 2017)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr4:6290759
GRCh38:
Chr4:6289032
WFS1not providedUncertain significance
(May 17, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr4:6290773
GRCh38:
Chr4:6289046
WFS1not specifiedLikely benign
(Jun 19, 2015)
criteria provided, single submitter
64.
GRCh37:
Chr4:6290774
GRCh38:
Chr4:6289047
WFS1not providedPathogenic
(Mar 6, 2015)
criteria provided, single submitter
65.
GRCh37:
Chr4:6290798
GRCh38:
Chr4:6289071
WFS1not specified, not providedUncertain significance
(Oct 31, 2017)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr4:6290800
GRCh38:
Chr4:6289073
WFS1not specified, WFS1-Related Spectrum Disorders, Nonsyndromic Hearing Loss, Dominant
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr4:6290807-6290822
GRCh38:
Chr4:6289080-6289095
WFS1Diabetes mellitus AND insipidus with optic atrophy AND deafness, Wolfram syndromePathogenic
(Mar 10, 2017)
criteria provided, single submitter
68.
GRCh37:
Chr4:6290834
GRCh38:
Chr4:6289107
WFS1not specifiedUncertain significance
(Feb 16, 2017)
criteria provided, single submitter
69.
GRCh37:
Chr4:6290847
GRCh38:
Chr4:6289120
WFS1not specifiedUncertain significance
(May 23, 2014)
criteria provided, single submitter
70.
GRCh37:
Chr4:6292909
GRCh38:
Chr4:6291182
WFS1not specified, WFS1-Related Spectrum Disorders, Nonsyndromic Hearing Loss, Dominant
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr4:6292915
GRCh38:
Chr4:6291188
WFS1Diabetes mellitus, noninsulin-dependent, association with, not specified, WFS1-Related Spectrum Disorders,
Nonsyndromic Hearing Loss, Dominant
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr4:6292934
GRCh38:
Chr4:6291207
WFS1not specifiedLikely benign
(Nov 9, 2017)
criteria provided, single submitter
73.
GRCh37:
Chr4:6292940
GRCh38:
Chr4:6291213
WFS1not specifiedLikely benign
(Dec 21, 2017)
criteria provided, single submitter
74.
GRCh37:
Chr4:6292945
GRCh38:
Chr4:6291218
WFS1not specifiedBenign/Likely benign
(Aug 4, 2014)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr4:6292968
GRCh38:
Chr4:6291241
WFS1not specifiedUncertain significance
(Oct 8, 2014)
criteria provided, single submitter
76.
GRCh37:
Chr4:6292973
GRCh38:
Chr4:6291246
WFS1not specified, WFS1-Related Spectrum Disorders, Nonsyndromic Hearing Loss, Dominant
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr4:6292998
GRCh38:
Chr4:6291271
WFS1not specifiedUncertain significance
(Aug 12, 2015)
criteria provided, single submitter
78.
GRCh37:
Chr4:6293006
GRCh38:
Chr4:6291279
WFS1not specifiedLikely benign
(Aug 15, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr4:6293040
GRCh38:
Chr4:6291313
WFS1not specified, not provided, WFS1-Related Spectrum Disorders,
Nonsyndromic Hearing Loss, Dominant, Monogenic diabetes
Benign/Likely benign
(Apr 10, 2017)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr4:6293041
GRCh38:
Chr4:6291314
WFS1Monogenic diabetesUncertain significance
(Oct 2, 2015)
criteria provided, single submitter
81.
GRCh37:
Chr4:6293057
GRCh38:
Chr4:6291330
WFS1not specifiedLikely benign
(Dec 14, 2017)
criteria provided, single submitter
82.
GRCh37:
Chr4:6293068
GRCh38:
Chr4:6291341
WFS1not specifiedUncertain significance
(Mar 20, 2017)
criteria provided, single submitter
83.
GRCh37:
Chr4:6293094
GRCh38:
Chr4:6291367
WFS1not providedUncertain significance
(Apr 6, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr4:6293099
GRCh38:
Chr4:6291372
WFS1not specifiedUncertain significance
(Aug 28, 2012)
criteria provided, single submitter
85.
GRCh37:
Chr4:6293106
GRCh38:
Chr4:6291379
WFS1not specifiedBenign
(Mar 29, 2016)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr4:6293646
GRCh38:
Chr4:6291919
WFS1not specifiedUncertain significance
(Feb 6, 2017)
criteria provided, single submitter
87.
GRCh37:
Chr4:6293654
GRCh38:
Chr4:6291927
WFS1not specifiedLikely benign
(Sep 5, 2017)
criteria provided, single submitter
88.
GRCh37:
Chr4:6293659
GRCh38:
Chr4:6291932
WFS1not specified, Monogenic diabetesUncertain significance
(Jul 7, 2017)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr4:6293666
GRCh38:
Chr4:6291939
WFS1not specifiedLikely benign
(Aug 29, 2013)
criteria provided, single submitter
90.
GRCh37:
Chr4:6293679
GRCh38:
Chr4:6291952
WFS1Monogenic diabetesUncertain significance
(Oct 7, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr4:6293688
GRCh38:
Chr4:6291961
WFS1Diabetes mellitus AND insipidus with optic atrophy AND deafnessPathogenic
(Dec 1, 1998)
no assertion criteria provided
92.
GRCh37:
Chr4:6293695
GRCh38:
Chr4:6291968
WFS1Cataract 41, Diabetes mellitus AND insipidus with optic atrophy AND deafness, WFS1-Related Disorders,
Diabetes mellitus type 2, Wolfram-like syndrome, autosomal dominant, not specified
Uncertain significance
(Jul 6, 2017)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr4:6293696
GRCh38:
Chr4:6291969
WFS1not specified, WFS1-Related Spectrum Disorders, Nonsyndromic Hearing Loss, Dominant
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr4:6293740
GRCh38:
Chr4:6292013
WFS1not specified, not providedBenign/Likely benign
(Sep 1, 2017)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr4:6295693
GRCh38:
Chr4:6293966
WFS1Diabetes mellitus, noninsulin-dependent, association withPathogenic
(Aug 1, 2007)
no assertion criteria provided
96.
GRCh37:
Chr4:6296771
GRCh38:
Chr4:6295044
WFS1not specifiedUncertain significance
(Sep 29, 2017)
criteria provided, single submitter
97.
GRCh37:
Chr4:6296781
GRCh38:
Chr4:6295054
WFS1not specifiedConflicting interpretations of pathogenicity
(May 1, 2017)
criteria provided, conflicting interpretations
98.
GRCh37:
Chr4:6296783
GRCh38:
Chr4:6295056
WFS1not specifiedUncertain significance
(Feb 10, 2015)
criteria provided, single submitter
99.
GRCh37:
Chr4:6296809
GRCh38:
Chr4:6295082
WFS1not specifiedUncertain significance
(Sep 11, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr4:6296817
GRCh38:
Chr4:6295090
WFS1not specifiedLikely benign
(Apr 30, 2012)
criteria provided, single submitter
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