| - GRCh37:
- Chr4:6290859
- GRCh38:
- Chr4:6289132
| WFS1 | | Wolfram syndrome 1 | Pathogenic
(Aug 15, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:6303360
- GRCh38:
- Chr4:6301633
| WFS1 | W613* | Wolfram syndrome 1 | Pathogenic
(Aug 15, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:6303528
- GRCh38:
- Chr4:6301801
| WFS1 | Y669C | Wolfram syndrome 1 | Likely pathogenic
(Aug 15, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:6303149
- GRCh38:
- Chr4:6301422
| WFS1 | L543F | Wolfram syndrome 1 | Likely pathogenic
(Mar 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:6304092
- GRCh38:
- Chr4:6302365
| WFS1 | T857I | Wolfram syndrome 1 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr4:6305829
- GRCh38:
- Chr4:6304102
| WFS1 | | Wolfram syndrome 1 | Benign | criteria provided, single submitter |
| - GRCh37:
- Chr4:6304006
- GRCh38:
- Chr4:6302279
| WFS1 | | Wolfram syndrome 1 | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr4:6303872
- GRCh38:
- Chr4:6302145
| WFS1 | S784R | Wolfram syndrome 1 | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr4:6303859
- GRCh38:
- Chr4:6302132
| WFS1 | | Wolfram syndrome 1 | Benign | criteria provided, single submitter |
| - GRCh37:
- Chr4:6303981
- GRCh38:
- Chr4:6302254
| WFS1 | G820V | Wolfram syndrome 1 | Likely risk allele | criteria provided, single submitter |
| - GRCh37:
- Chr4:6303977
- GRCh38:
- Chr4:6302250
| WFS1 | Q819E | Wolfram syndrome 1 | Likely risk allele | criteria provided, single submitter |
| - GRCh37:
- Chr4:6303469
- GRCh38:
- Chr4:6301742
| WFS1 | F649L | Wolfram syndrome 1 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr4:6303583
- GRCh38:
- Chr4:6301856
| WFS1 | Q687H | Wolfram syndrome 1 | Likely risk allele | criteria provided, single submitter |
| - GRCh37:
- Chr4:6303358
- GRCh38:
- Chr4:6301631
| WFS1 | W612C | Wolfram syndrome 1 | Uncertain risk allele | criteria provided, single submitter |
| - GRCh37:
- Chr4:6303552
- GRCh38:
- Chr4:6301825
| WFS1 | A677G | Wolfram syndrome 1 | Uncertain risk allele | criteria provided, single submitter |
| - GRCh37:
- Chr4:6304748
- GRCh38:
- Chr4:6303021
| WFS1 | | Wolfram syndrome 1 | Benign | criteria provided, single submitter |
| - GRCh37:
- Chr4:6304878
- GRCh38:
- Chr4:6303151
| WFS1 | | Wolfram syndrome 1 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr4:6303175
- GRCh38:
- Chr4:6301448
| WFS1 | | Wolfram syndrome 1 | Benign | criteria provided, single submitter |
| - GRCh37:
- Chr4:6303523
- GRCh38:
- Chr4:6301796
| WFS1 | | Wolfram syndrome 1 | Benign | criteria provided, single submitter |
| - GRCh37:
- Chr4:6302884
- GRCh38:
- Chr4:6301157
| WFS1 | Y454* | Wolfram syndrome 1 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr4:6303044-6303045
- GRCh38:
- Chr4:6301317-6301318
| WFS1 | Y508fs | Wolfram syndrome 1, Wolfram-like syndrome, not provided
| Pathogenic/Likely pathogenic
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6304160
- GRCh38:
- Chr4:6302433
| WFS1 | D880N | Wolfram syndrome 1, not provided | Uncertain significance
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303623
- GRCh38:
- Chr4:6301896
| WFS1 | T701S | not provided, Type II diabetes mellitus, Wolfram syndrome 1
| Uncertain significance
(Jul 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302716
- GRCh38:
- Chr4:6300989
| WFS1 | | Wolfram syndrome 1 | Benign | criteria provided, single submitter |
| - GRCh37:
- Chr4:6302714
- GRCh38:
- Chr4:6300987
| WFS1 | G398S | Wolfram syndrome 1, WFS1-related condition, not provided
| Uncertain significance/Uncertain risk allele
(Feb 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302542
- GRCh38:
- Chr4:6300815
| WFS1 | | Wolfram syndrome 1 | Benign | criteria provided, single submitter |
| - GRCh37:
- Chr4:6296892
- GRCh38:
- Chr4:6295165
| WFS1 | | Wolfram syndrome 1 | Benign | criteria provided, single submitter |
| - GRCh37:
- Chr4:6302406
- GRCh38:
- Chr4:6300679
| WFS1 | A295G | Wolfram syndrome 1 | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr4:6302395
- GRCh38:
- Chr4:6300668
| WFS1 | | Wolfram syndrome 1, not provided | Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:6295451
- GRCh38:
- Chr4:6293724
| WFS1 | | Wolfram syndrome 1 | Benign | criteria provided, single submitter |
| - GRCh37:
- Chr4:6302621
- GRCh38:
- Chr4:6300894
| WFS1 | D367Y | Wolfram syndrome 1 | Likely risk allele | criteria provided, single submitter |
| - GRCh37:
- Chr4:6302490
- GRCh38:
- Chr4:6300763
| WFS1 | H323L | Wolfram syndrome 1 | Uncertain risk allele | criteria provided, single submitter |
| - GRCh37:
- Chr4:6293078
- GRCh38:
- Chr4:6291351
| WFS1 | | not provided, Wolfram syndrome 1 | Conflicting interpretations of pathogenicity
(Nov 2, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:6292755-6292756
- GRCh38:
- Chr4:6291028-6291029
| WFS1 | | Wolfram syndrome 1 | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr4:6290700
- GRCh38:
- Chr4:6288973
| WFS1 | | Wolfram syndrome 1 | Benign | criteria provided, single submitter |
| - GRCh37:
- Chr4:6290759
- GRCh38:
- Chr4:6289032
| WFS1 | L121I | Wolfram syndrome 1 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr4:6279297
- GRCh38:
- Chr4:6277570
| WFS1 | E39* | Wolfram syndrome 1 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr4:6279263
- GRCh38:
- Chr4:6277536
| WFS1 | | Wolfram syndrome 1 | Benign | criteria provided, single submitter |
| - GRCh37:
- Chr4:6279340
- GRCh38:
- Chr4:6277613
| WFS1 | G53A | Wolfram-like syndrome, Wolfram syndrome 1 | Uncertain significance
(Feb 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:6303142
- GRCh38:
- Chr4:6301415
| WFS1 | W540C | Wolfram-like syndrome, Wolfram syndrome 1 | Uncertain significance
(Nov 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr4:6271647
- GRCh38:
- Chr4:6269920
| LOC129992166, WFS1 | | Wolfram syndrome 1 | Benign | criteria provided, single submitter |
| - GRCh37:
- Chr4:6271692
- GRCh38:
- Chr4:6269965
| WFS1 | | Wolfram syndrome 1 | Benign | criteria provided, single submitter |
| - GRCh37:
- Chr4:6302634
- GRCh38:
- Chr4:6300907
| WFS1 | W371* | Wolfram syndrome 1 | Pathogenic
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:6302538-6302539
- GRCh38:
- Chr4:6300811-6300812
| WFS1 | | Wolfram syndrome 1 | Likely pathogenic
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303439
- GRCh38:
- Chr4:6301712
| WFS1 | W639* | Wolfram syndrome 1 | Likely pathogenic
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:6303013-6303014
- GRCh38:
- Chr4:6301286-6301287
| WFS1 | V498fs | Wolfram syndrome 1 | Likely pathogenic
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:6303513
- GRCh38:
- Chr4:6301786
| WFS1 | L664R | not provided, Wolfram syndrome 1 | Conflicting interpretations of pathogenicity
(Sep 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:6302738
- GRCh38:
- Chr4:6301011
| WFS1 | A406T | not provided, Type II diabetes mellitus, Wolfram syndrome 1,
Wolfram-like syndrome, Cataract 41, Autosomal dominant nonsyndromic hearing loss 6
| Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303465
- GRCh38:
- Chr4:6301738
| WFS1 | W648* | Wolfram syndrome 1 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr4:6302899
- GRCh38:
- Chr4:6301172
| WFS1 | | not provided, Autosomal dominant nonsyndromic hearing loss 6, Cataract 41,
Wolfram-like syndrome, Type II diabetes mellitus, Wolfram syndrome 1
| Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6296749
- GRCh38:
- Chr4:6295022
| WFS1 | | Autosomal dominant nonsyndromic hearing loss 6, Cataract 41, Wolfram-like syndrome,
Type II diabetes mellitus, Wolfram syndrome 1, not provided
| Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6290842
- GRCh38:
- Chr4:6289115
| WFS1 | | Autosomal dominant nonsyndromic hearing loss 6, Cataract 41, Wolfram-like syndrome,
Type II diabetes mellitus, Wolfram syndrome 1, not provided
| Likely benign
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6279215
- GRCh38:
- Chr4:6277488
| WFS1 | | Autosomal dominant nonsyndromic hearing loss 6, Cataract 41, Wolfram-like syndrome,
Type II diabetes mellitus, Wolfram syndrome 1, not provided
| Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6288919
- GRCh38:
- Chr4:6287192
| WFS1 | | Autosomal dominant nonsyndromic hearing loss 6, Cataract 41, Wolfram-like syndrome,
Type II diabetes mellitus, Wolfram syndrome 1, not provided
| Likely benign
(Aug 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302974
- GRCh38:
- Chr4:6301247
| WFS1 | | not provided, Wolfram syndrome 1 | Benign/Likely benign
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6304042
- GRCh38:
- Chr4:6302315
| WFS1 | | Autosomal dominant nonsyndromic hearing loss 6, Cataract 41, Wolfram-like syndrome,
Type II diabetes mellitus, Wolfram syndrome 1, not provided
| Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302887
- GRCh38:
- Chr4:6301160
| WFS1 | | not provided, Autosomal dominant nonsyndromic hearing loss 6, Type II diabetes mellitus,
Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome
| Likely benign
(Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6288920
- GRCh38:
- Chr4:6287193
| WFS1 | | Cataract 41, Type II diabetes mellitus, Autosomal dominant nonsyndromic hearing loss 6,
Wolfram-like syndrome, Wolfram syndrome 1, not provided
| Likely benign
(Jul 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303913
- GRCh38:
- Chr4:6302186
| WFS1 | | not provided, Cataract 41, Type II diabetes mellitus,
Autosomal dominant nonsyndromic hearing loss 6, Wolfram-like syndrome, Wolfram syndrome 1
| Benign/Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303640
- GRCh38:
- Chr4:6301913
| WFS1 | | not provided, Cataract 41, Type II diabetes mellitus,
Autosomal dominant nonsyndromic hearing loss 6, Wolfram-like syndrome, Wolfram syndrome 1
| Likely benign
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303016
- GRCh38:
- Chr4:6301289
| WFS1 | | not provided, Cataract 41, Type II diabetes mellitus,
Autosomal dominant nonsyndromic hearing loss 6, Wolfram-like syndrome, Wolfram syndrome 1
| Likely benign
(May 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303262
- GRCh38:
- Chr4:6301535
| WFS1 | | not provided, Wolfram syndrome 1 | Benign/Likely benign
(Jul 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303871
- GRCh38:
- Chr4:6302144
| WFS1 | | not provided, Cataract 41, Type II diabetes mellitus,
Autosomal dominant nonsyndromic hearing loss 6, Wolfram-like syndrome, Wolfram syndrome 1
| Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302498
- GRCh38:
- Chr4:6300771
| WFS1 | A326T | not provided, Wolfram syndrome 1, Inborn genetic diseases
| Conflicting interpretations of pathogenicity
(Jul 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:6302701
- GRCh38:
- Chr4:6300974
| WFS1 | | Cataract 41, Type II diabetes mellitus, Autosomal dominant nonsyndromic hearing loss 6,
Wolfram-like syndrome, Wolfram syndrome 1, not provided
| Likely benign
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302998
- GRCh38:
- Chr4:6301271
| WFS1 | | not provided, Cataract 41, Type II diabetes mellitus,
Autosomal dominant nonsyndromic hearing loss 6, Wolfram-like syndrome, Wolfram syndrome 1
| Likely benign
(Aug 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302530
- GRCh38:
- Chr4:6300803
| WFS1 | | Cataract 41, Type II diabetes mellitus, Autosomal dominant nonsyndromic hearing loss 6,
Wolfram-like syndrome, Wolfram syndrome 1, not provided
| Likely benign
(Feb 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302365
- GRCh38:
- Chr4:6300638
| WFS1 | | not provided, Wolfram-like syndrome, Cataract 41,
Autosomal dominant nonsyndromic hearing loss 6, Type II diabetes mellitus, Wolfram syndrome 1
| Likely benign
(Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302366
- GRCh38:
- Chr4:6300639
| WFS1 | | not provided, Autosomal dominant nonsyndromic hearing loss 6, Type II diabetes mellitus,
Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome
| Likely benign
(Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302548
- GRCh38:
- Chr4:6300821
| WFS1 | | Wolfram-like syndrome, Cataract 41, Autosomal dominant nonsyndromic hearing loss 6,
Type II diabetes mellitus, Wolfram syndrome 1, not provided
| Likely benign
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303274
- GRCh38:
- Chr4:6301547
| WFS1 | | Wolfram-like syndrome, Cataract 41, Autosomal dominant nonsyndromic hearing loss 6,
Type II diabetes mellitus, Wolfram syndrome 1, not provided
| Likely benign
(Jul 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6293743
- GRCh38:
- Chr4:6292016
| WFS1 | | Wolfram-like syndrome, Cataract 41, Autosomal dominant nonsyndromic hearing loss 6,
Type II diabetes mellitus, Wolfram syndrome 1, not provided
| Likely benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6304117
- GRCh38:
- Chr4:6302390
| WFS1 | | Wolfram syndrome 1, not provided | Benign/Likely benign
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302955
- GRCh38:
- Chr4:6301228
| WFS1 | W478* | not provided, Wolfram syndrome 1 | Pathogenic/Likely pathogenic
(May 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303341
- GRCh38:
- Chr4:6301614
| WFS1 | P607A | Type II diabetes mellitus, Autosomal dominant nonsyndromic hearing loss 6, Wolfram syndrome 1,
Wolfram-like syndrome, Cataract 41, not provided
| Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303198
- GRCh38:
- Chr4:6301471
| WFS1 | A559V | Wolfram syndrome 1, not provided | Uncertain significance/Uncertain risk allele
(Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302742
- GRCh38:
- Chr4:6301015
| WFS1 | H407R | not provided, Type II diabetes mellitus, Autosomal dominant nonsyndromic hearing loss 6,
Wolfram syndrome 1, Wolfram-like syndrome, Cataract 41
| Uncertain significance
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6304128
- GRCh38:
- Chr4:6302401
| WFS1 | S869N | not provided, Type II diabetes mellitus, Autosomal dominant nonsyndromic hearing loss 6,
Wolfram syndrome 1, Wolfram-like syndrome, Cataract 41
| Uncertain significance
(Apr 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303480
- GRCh38:
- Chr4:6301753
| WFS1 | R653H | Type II diabetes mellitus, Autosomal dominant nonsyndromic hearing loss 6, Wolfram syndrome 1,
Wolfram-like syndrome, Cataract 41, not provided
| Uncertain significance
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302900
- GRCh38:
- Chr4:6301173
| WFS1 | A460T | Type II diabetes mellitus, Autosomal dominant nonsyndromic hearing loss 6, Wolfram syndrome 1,
Wolfram-like syndrome, Cataract 41, not provided
| Uncertain significance
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303551
- GRCh38:
- Chr4:6301824
| WFS1 | A677S | not provided, Type II diabetes mellitus, Autosomal dominant nonsyndromic hearing loss 6,
Wolfram syndrome 1, Wolfram-like syndrome, Cataract 41
| Uncertain significance
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6293653
- GRCh38:
- Chr4:6291926
| WFS1 | A214V | Type II diabetes mellitus, Autosomal dominant nonsyndromic hearing loss 6, Wolfram syndrome 1,
Wolfram-like syndrome, Cataract 41, not provided,
Inborn genetic diseases | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303836
- GRCh38:
- Chr4:6302109
| WFS1 | R772C | Inborn genetic diseases, not provided, Autosomal dominant nonsyndromic hearing loss 6,
Wolfram-like syndrome, Cataract 41, Type II diabetes mellitus,
Wolfram syndrome 1 | Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302831
- GRCh38:
- Chr4:6301104
| WFS1 | G437C | not provided, Autosomal dominant nonsyndromic hearing loss 6, Wolfram-like syndrome,
Cataract 41, Type II diabetes mellitus, Wolfram syndrome 1
| Uncertain significance
(Dec 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6304074
- GRCh38:
- Chr4:6302347
| WFS1 | M851R | not provided, Autosomal dominant nonsyndromic hearing loss 6, Type II diabetes mellitus,
Cataract 41, Wolfram-like syndrome, Wolfram syndrome 1
| Uncertain significance
(Oct 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6293725
- GRCh38:
- Chr4:6291998
| WFS1 | | Wolfram syndrome 1, not provided | Pathogenic/Likely pathogenic
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303804
- GRCh38:
- Chr4:6302077
| WFS1 | A761V | Autosomal dominant nonsyndromic hearing loss 6, Wolfram-like syndrome, Cataract 41,
Type II diabetes mellitus, Wolfram syndrome 1, not provided
| Uncertain significance
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303126-6303139
- GRCh38:
- Chr4:6301399-6301412
| WFS1 | | not provided, Autosomal dominant nonsyndromic hearing loss 6, Wolfram-like syndrome,
Cataract 41, Type II diabetes mellitus, Wolfram syndrome 1
| Pathogenic/Likely pathogenic
(Nov 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302753-6302756
- GRCh38:
- Chr4:6301026-6301029
| WFS1 | V412fs | not provided, Autosomal dominant nonsyndromic hearing loss 6, Wolfram-like syndrome,
Cataract 41, Type II diabetes mellitus, Wolfram syndrome 1
| Pathogenic
(Feb 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303141
- GRCh38:
- Chr4:6301414
| WFS1 | W540* | Autosomal dominant nonsyndromic hearing loss 6, Wolfram-like syndrome, Cataract 41,
Type II diabetes mellitus, Wolfram syndrome 1, not provided
| Pathogenic/Likely pathogenic
(Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303080
- GRCh38:
- Chr4:6301353
| WFS1 | Q520* | not provided, Autosomal dominant nonsyndromic hearing loss 6, Wolfram-like syndrome,
Cataract 41, Type II diabetes mellitus, Wolfram syndrome 1
| Pathogenic
(Feb 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6292931
- GRCh38:
- Chr4:6291204
| WFS1 | | not provided, Wolfram syndrome 1 | Benign/Likely benign
(May 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303037-6303051
- GRCh38:
- Chr4:6301310-6301324
| WFS1 | | Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6, Autosomal dominant nonsyndromic hearing loss 6,
Wolfram-like syndrome, Cataract 41, Type II diabetes mellitus,
Wolfram syndrome 1, not provided | Pathogenic/Likely pathogenic
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303727
- GRCh38:
- Chr4:6302000
| WFS1 | Y735* | Wolfram syndrome 1, not provided | Pathogenic
(Jul 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303914
- GRCh38:
- Chr4:6302187
| WFS1 | V798I | Cataract 41, Wolfram-like syndrome, Autosomal dominant nonsyndromic hearing loss 6,
Type II diabetes mellitus, Wolfram syndrome 1, not provided
| Uncertain significance
(Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303452
- GRCh38:
- Chr4:6301725
| WFS1 | V644M | not provided, Wolfram syndrome 1, Cataract 41,
Wolfram-like syndrome, Autosomal dominant nonsyndromic hearing loss 6, Type II diabetes mellitus,
Wolfram syndrome 1 | Uncertain significance
(Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6293698
- GRCh38:
- Chr4:6291971
| WFS1 | M229T | not provided, Cataract 41, Wolfram-like syndrome,
Autosomal dominant nonsyndromic hearing loss 6, Type II diabetes mellitus, Wolfram syndrome 1
| Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6293098
- GRCh38:
- Chr4:6291371
| WFS1 | | Type II diabetes mellitus, Wolfram syndrome 1, not provided
| Uncertain significance
(Sep 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6279336
- GRCh38:
- Chr4:6277609
| WFS1 | P52S | Inborn genetic diseases, not provided, Cataract 41,
Wolfram-like syndrome, Autosomal dominant nonsyndromic hearing loss 6, Type II diabetes mellitus,
Wolfram syndrome 1 | Uncertain significance
(May 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303647
- GRCh38:
- Chr4:6301920
| WFS1 | V709M | not provided, Cataract 41, Wolfram syndrome 1,
Autosomal dominant nonsyndromic hearing loss 6, Type II diabetes mellitus, Wolfram-like syndrome
| Uncertain significance
(Apr 6, 2022) | criteria provided, multiple submitters, no conflicts |