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Items: 30

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr15:28447255
GRCh38:
Chr15:28202109
HERC2WFS1-Related Disorders, Wolfram-like syndrome, autosomal dominant, Diabetes mellitus AND insipidus with optic atrophy AND deafness
not providedno assertion providedVCV000585200
2.
GRCh37:
Chr4:6302646
GRCh38:
Chr4:6300919
WFS1R375HWFS1-Related Disorders, Cataract 41, Diabetes mellitus AND insipidus with optic atrophy AND deafness,
Wolfram-like syndrome, autosomal dominant, Diabetes mellitus type 2, not specified,
not provided
Uncertain significance
(Sep 14, 2017)
criteria provided, multiple submitters, no conflictsVCV000504709
3.
GRCh37:
Chr4:6303246
GRCh38:
Chr4:6301519
WFS1A575GWolfram-like syndrome, autosomal dominant, WFS1-Related Disorders, Cataract 41,
Diabetes mellitus type 2, Diabetes mellitus AND insipidus with optic atrophy AND deafness, not provided
Uncertain significance
(May 24, 2017)
criteria provided, multiple submitters, no conflictsVCV000440419
4.
GRCh37:
Chr4:6302601
GRCh38:
Chr4:6300874
WFS1C360YDiabetes mellitus AND insipidus with optic atrophy AND deafness, Cataract 41, Wolfram-like syndrome, autosomal dominant,
Diabetes mellitus type 2, WFS1-Related Disorders, WFS1-Related Disorders,
not specified, Diabetes mellitus AND insipidus with optic atrophy AND deafness
Uncertain significance
(Sep 24, 2014)
criteria provided, multiple submitters, no conflictsVCV000374398
5.
GRCh37:
Chr4:6292998
GRCh38:
Chr4:6291271
WFS1A179Tnot specified, Diabetes mellitus AND insipidus with optic atrophy AND deafness, Cataract 41,
Wolfram-like syndrome, autosomal dominant, Diabetes mellitus type 2, WFS1-Related Disorders
Uncertain significance
(Aug 12, 2015)
criteria provided, multiple submitters, no conflictsVCV000229647
6.
GRCh37:
Chr4:6302582-6302584
GRCh38:
Chr4:6300855-6300857
WFS1F354delNonsyndromic hearing loss and deafness, not provided, WFS1-Related Disorders
Pathogenic
(Jun 21, 2016)
criteria provided, multiple submitters, no conflictsVCV000228420
7.
GRCh37:
Chr4:6303368
GRCh38:
Chr4:6301641
WFS1A616SWFS1-Related DisordersUncertain significance
(Mar 18, 2016)
criteria provided, single submitterVCV000225514
8.
GRCh37:
Chr4:6303060
GRCh38:
Chr4:6301333
WFS1Y513SWolfram-like syndrome, autosomal dominant, Cataract 41, Diabetes mellitus type 2,
WFS1-Related Disorders, Diabetes mellitus AND insipidus with optic atrophy AND deafness, not provided
Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000215412
9.
GRCh37:
Chr4:6303155
GRCh38:
Chr4:6301428
WFS1V545MWolfram-like syndrome, autosomal dominant, Cataract 41, Diabetes mellitus type 2,
WFS1-Related Disorders, Diabetes mellitus AND insipidus with optic atrophy AND deafness, not specified,
not provided
Uncertain significance
(Jan 24, 2017)
criteria provided, multiple submitters, no conflictsVCV000215391
10.
GRCh37:
Chr4:6302893
GRCh38:
Chr4:6301166
WFS1R457SWFS1-Related Disorders, Wolfram-like syndrome, autosomal dominant, Cataract 41,
Diabetes mellitus AND insipidus with optic atrophy AND deafness, Diabetes mellitus type 2, not specified,
not provided
Uncertain significance
(Jun 20, 2016)
criteria provided, multiple submitters, no conflictsVCV000215389
11.
GRCh37:
Chr4:6302757
GRCh38:
Chr4:6301030
WFS1V412AWFS1-Related Disorders, WFS1-Related Spectrum Disorders, Nonsyndromic Hearing Loss, Dominant
Conflicting interpretations of pathogenicity
(Mar 18, 2016)
criteria provided, conflicting interpretationsVCV000215387
12.
GRCh37:
Chr4:6302689
GRCh38:
Chr4:6300962
WFS1D389EWolfram-like syndrome, autosomal dominant, Cataract 41, Diabetes mellitus type 2,
WFS1-Related Disorders, Diabetes mellitus AND insipidus with optic atrophy AND deafness, not provided
Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000215385
13.
GRCh37:
Chr4:6296872
GRCh38:
Chr4:6295145
WFS1E273KWolfram-like syndrome, autosomal dominant, Cataract 41, Diabetes mellitus type 2,
WFS1-Related Disorders, Diabetes mellitus AND insipidus with optic atrophy AND deafness, not specified,
not provided
Uncertain significance
(May 9, 2017)
criteria provided, multiple submitters, no conflictsVCV000215382
14.
GRCh37:
Chr4:6296783
GRCh38:
Chr4:6295056
WFS1A243VWolfram-like syndrome, autosomal dominant, Cataract 41, Diabetes mellitus type 2,
WFS1-Related Disorders, Diabetes mellitus AND insipidus with optic atrophy AND deafness, not provided
Uncertain significance
(Feb 27, 2018)
criteria provided, multiple submitters, no conflictsVCV000215381
15.
GRCh37:
Chr4:6303194
GRCh38:
Chr4:6301467
WFS1R558CMonogenic diabetes, WFS1-Related Spectrum Disorders, not provided,
Wolfram syndrome, not specified, WFS1-Related Disorders
Conflicting interpretations of pathogenicity
(Jul 7, 2016)
criteria provided, conflicting interpretationsVCV000198835
16.
GRCh37:
Chr4:6303551
GRCh38:
Chr4:6301824
WFS1A677TDiabetes mellitus AND insipidus with optic atrophy AND deafness, Diabetes mellitus type 2, WFS1-Related Disorders,
Cataract 41, Wolfram-like syndrome, autosomal dominant, not provided
Uncertain significance
(Nov 7, 2014)
criteria provided, multiple submitters, no conflictsVCV000198834
17.
GRCh37:
Chr4:6293695
GRCh38:
Chr4:6291968
WFS1R228HCataract 41, Diabetes mellitus AND insipidus with optic atrophy AND deafness, WFS1-Related Disorders,
Wolfram-like syndrome, autosomal dominant, Diabetes mellitus type 2, not specified,
not provided
Uncertain significance
(May 23, 2017)
criteria provided, multiple submitters, no conflictsVCV000198190
18.
GRCh37:
Chr4:6279306
GRCh38:
Chr4:6277579
WFS1R42*WFS1-Related Disorders, Diabetes mellitus AND insipidus with optic atrophy AND deafness, Wolfram-like syndrome, autosomal dominant,
Diabetes mellitus AND insipidus with optic atrophy AND deafness, not provided
Pathogenic/Likely pathogenic
(Nov 19, 2013)
criteria provided, multiple submitters, no conflictsVCV000189251
19.
GRCh37:
Chr4:6303479
GRCh38:
Chr4:6301752
WFS1R653CWFS1-Related Disorders, Wolfram-like syndrome, autosomal dominant, Cataract 41,
Diabetes mellitus type 2, Diabetes mellitus AND insipidus with optic atrophy AND deafness, not specified,
not provided, WFS1-Related Disorders
Uncertain significance
(May 23, 2017)
criteria provided, multiple submitters, no conflictsVCV000178597
20.
GRCh37:
Chr4:6302918
GRCh38:
Chr4:6301191
WFS1G466SWFS1-Related Disorders, Wolfram-like syndrome, autosomal dominant, Cataract 41,
Diabetes mellitus type 2, Diabetes mellitus AND insipidus with optic atrophy AND deafness, not specified,
not provided
Uncertain significance
(Jul 16, 2014)
criteria provided, multiple submitters, no conflictsVCV000166589
21.
GRCh37:
Chr4:6302819
GRCh38:
Chr4:6301092
WFS1A433TWFS1-Related Disorders, not specifiedUncertain significance
(Oct 30, 2015)
criteria provided, single submitterVCV000166587
22.
GRCh37:
Chr4:6296771
GRCh38:
Chr4:6295044
WFS1K239RDiabetes mellitus AND insipidus with optic atrophy AND deafness, Diabetes mellitus type 2, WFS1-Related Disorders,
Cataract 41, Wolfram-like syndrome, autosomal dominant, not specified
Uncertain significance
(Sep 29, 2017)
criteria provided, multiple submitters, no conflictsVCV000166574
23.
GRCh37:
Chr4:6292945
GRCh38:
Chr4:6291218
WFS1R161QWFS1-Related Disorders, Wolfram-like syndrome, autosomal dominant, Diabetes mellitus AND insipidus with optic atrophy AND deafness,
not specified, not provided
Benign/Likely benign
(Apr 30, 2012)
criteria provided, multiple submitters, no conflictsVCV000137911
24.
GRCh37:
Chr4:6304098
GRCh38:
Chr4:6302371
WFS1R859QNonsyndromic Hearing Loss, Dominant, not provided, WFS1-Related Disorders,
WFS1-Related Spectrum Disorders
Uncertain significance
(Sep 1, 2008)
criteria provided, multiple submitters, no conflictsVCV000004529
25.
GRCh37:
Chr4:6304112
GRCh38:
Chr4:6302385
WFS1E864KWFS1-Related Disorders, Wolfram-like syndrome, autosomal dominant, DFNA6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss,
Nonsyndromic hearing loss and deafness, not provided
Pathogenic/Likely pathogenic
(Jun 1, 2008)
criteria provided, multiple submitters, no conflictsVCV000004526
26.
GRCh37:
Chr4:6303423
GRCh38:
Chr4:6301696
WFS1K634TWFS1-Related DisordersPathogenic
(Jan 1, 2002)
no assertion criteria providedVCV000004524
27.
GRCh37:
Chr4:6304014
GRCh38:
Chr4:6302287
WFS1G831Dnot provided, WFS1-Related DisordersUncertain significance
(May 1, 2002)
criteria provided, single submitterVCV000004523
28.
GRCh37:
Chr4:6303618
GRCh38:
Chr4:6301891
WFS1T699Mnot specified, WFS1-Related DisordersUncertain significance
(Oct 30, 2015)
criteria provided, single submitterVCV000004522
29.
GRCh37:
Chr4:6304008
GRCh38:
Chr4:6302281
WFS1L829Pnot provided, WFS1-Related DisordersLikely pathogenic
(Oct 15, 2001)
criteria provided, single submitterVCV000004521
30.
GRCh37:
Chr4:6303668
GRCh38:
Chr4:6301941
WFS1A716Tnot provided, WFS1-Related Disorders, Nonsyndromic hearing loss and deafness
Pathogenic/Likely pathogenic
(Aug 16, 2016)
criteria provided, multiple submitters, no conflictsVCV000004520
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