| - GRCh37:
- Chr4:6303066-6303067
- GRCh38:
- Chr4:6301339-6301340
| WFS1 | F515fs | Autosomal dominant nonsyndromic hearing loss 6 | Likely pathogenic
(Jan 8, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:6303158
- GRCh38:
- Chr4:6301431
| WFS1 | V546I | Autosomal dominant nonsyndromic hearing loss 6 | Uncertain significance
(Jan 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:6288842
- GRCh38:
- Chr4:6287115
| WFS1 | E85D | Autosomal dominant nonsyndromic hearing loss 6 | Uncertain significance
(Sep 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:6302738
- GRCh38:
- Chr4:6301011
| WFS1 | A406T | not provided, Cataract 41, Wolfram syndrome 1,
Wolfram-like syndrome, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
| Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302899
- GRCh38:
- Chr4:6301172
| WFS1 | | Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6296749
- GRCh38:
- Chr4:6295022
| WFS1 | | Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6290842
- GRCh38:
- Chr4:6289115
| WFS1 | | Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Likely benign
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6279215
- GRCh38:
- Chr4:6277488
| WFS1 | | not provided, Cataract 41, Wolfram syndrome 1,
Wolfram-like syndrome, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
| Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6288919
- GRCh38:
- Chr4:6287192
| WFS1 | | Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Likely benign
(Aug 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6304042
- GRCh38:
- Chr4:6302315
| WFS1 | | not provided, Cataract 41, Wolfram syndrome 1,
Wolfram-like syndrome, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
| Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302887
- GRCh38:
- Chr4:6301160
| WFS1 | | not provided, Cataract 41, Wolfram syndrome 1,
Wolfram-like syndrome, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
| Likely benign
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6288920
- GRCh38:
- Chr4:6287193
| WFS1 | | Wolfram-like syndrome, Autosomal dominant nonsyndromic hearing loss 6, Cataract 41,
Type 2 diabetes mellitus, 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, Wolfram-like syndrome, Autosomal dominant nonsyndromic hearing loss 6,
Cataract 41, Type 2 diabetes mellitus, Wolfram syndrome 1
| Benign/Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303640
- GRCh38:
- Chr4:6301913
| WFS1 | | not provided, Wolfram-like syndrome, Autosomal dominant nonsyndromic hearing loss 6,
Cataract 41, Type 2 diabetes mellitus, Wolfram syndrome 1
| Likely benign
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303016
- GRCh38:
- Chr4:6301289
| WFS1 | | not provided, Wolfram-like syndrome, Autosomal dominant nonsyndromic hearing loss 6,
Cataract 41, Type 2 diabetes mellitus, Wolfram syndrome 1
| Likely benign
(May 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303871
- GRCh38:
- Chr4:6302144
| WFS1 | | not provided, Type 2 diabetes mellitus, Wolfram syndrome 1,
Autosomal dominant nonsyndromic hearing loss 6, Wolfram-like syndrome, Cataract 41
| Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302701
- GRCh38:
- Chr4:6300974
| WFS1 | | Type 2 diabetes mellitus, Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6,
Wolfram-like syndrome, Cataract 41, not provided
| Likely benign
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302998
- GRCh38:
- Chr4:6301271
| WFS1 | | not provided, Type 2 diabetes mellitus, Wolfram syndrome 1,
Autosomal dominant nonsyndromic hearing loss 6, Wolfram-like syndrome, Cataract 41
| Likely benign
(Aug 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302530
- GRCh38:
- Chr4:6300803
| WFS1 | | Type 2 diabetes mellitus, Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6,
Wolfram-like syndrome, Cataract 41, not provided
| Likely benign
(Feb 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302365
- GRCh38:
- Chr4:6300638
| WFS1 | | Type 2 diabetes mellitus, Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6,
Wolfram-like syndrome, Cataract 41, not provided
| Likely benign
(Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302366
- GRCh38:
- Chr4:6300639
| WFS1 | | Type 2 diabetes mellitus, Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6,
Wolfram-like syndrome, Cataract 41, not provided
| Likely benign
(Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302548
- GRCh38:
- Chr4:6300821
| WFS1 | | Type 2 diabetes mellitus, Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6,
Wolfram-like syndrome, Cataract 41, not provided
| Likely benign
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303274
- GRCh38:
- Chr4:6301547
| WFS1 | | Type 2 diabetes mellitus, Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6,
Wolfram-like syndrome, Cataract 41, not provided
| Likely benign
(Jul 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6293743
- GRCh38:
- Chr4:6292016
| WFS1 | | not provided, Type 2 diabetes mellitus, Wolfram syndrome 1,
Autosomal dominant nonsyndromic hearing loss 6, Wolfram-like syndrome, Cataract 41
| Likely benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303341
- GRCh38:
- Chr4:6301614
| WFS1 | P607A | Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome,
Type 2 diabetes mellitus, Autosomal dominant nonsyndromic hearing loss 6, not provided
| Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302742
- GRCh38:
- Chr4:6301015
| WFS1 | H407R | Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome,
Type 2 diabetes mellitus, Autosomal dominant nonsyndromic hearing loss 6, not provided
| Uncertain significance
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6304128
- GRCh38:
- Chr4:6302401
| WFS1 | S869N | Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome,
Type 2 diabetes mellitus, Autosomal dominant nonsyndromic hearing loss 6, not provided
| Uncertain significance
(Apr 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303480
- GRCh38:
- Chr4:6301753
| WFS1 | R653H | not provided, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus,
Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome
| Uncertain significance
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302900
- GRCh38:
- Chr4:6301173
| WFS1 | A460T | not provided, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus,
Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome
| Uncertain significance
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303551
- GRCh38:
- Chr4:6301824
| WFS1 | A677S | not provided, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus,
Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome
| Uncertain significance
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6293653
- GRCh38:
- Chr4:6291926
| WFS1 | A214V | Inborn genetic diseases, not provided, Autosomal dominant nonsyndromic hearing loss 6,
Type 2 diabetes mellitus, Cataract 41, Wolfram syndrome 1,
Wolfram-like syndrome | 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,
Type 2 diabetes mellitus, Cataract 41, Wolfram syndrome 1,
Wolfram-like syndrome | 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, Type 2 diabetes mellitus,
Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome
| 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 2 diabetes mellitus,
Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome
| Uncertain significance
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303804
- GRCh38:
- Chr4:6302077
| WFS1 | A761V | Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Uncertain significance
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303126-6303139
- GRCh38:
- Chr4:6301399-6301412
| WFS1 | | Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Pathogenic/Likely pathogenic
(Nov 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302753-6302756
- GRCh38:
- Chr4:6301026-6301029
| WFS1 | V412fs | Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Pathogenic
(Feb 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303141
- GRCh38:
- Chr4:6301414
| WFS1 | W540* | Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Pathogenic/Likely pathogenic
(Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303080
- GRCh38:
- Chr4:6301353
| WFS1 | Q520* | Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Pathogenic
(Feb 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303037-6303051
- GRCh38:
- Chr4:6301310-6301324
| WFS1 | | Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Pathogenic/Likely pathogenic
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303914
- GRCh38:
- Chr4:6302187
| WFS1 | V798I | Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, 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 syndrome 1, Wolfram-like syndrome, Autosomal dominant nonsyndromic hearing loss 6,
Type 2 diabetes mellitus | Uncertain significance
(Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6293698
- GRCh38:
- Chr4:6291971
| WFS1 | M229T | not provided, Cataract 41, Wolfram syndrome 1,
Wolfram-like syndrome, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
| Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6279336
- GRCh38:
- Chr4:6277609
| WFS1 | P52S | Wolfram syndrome 1, Wolfram-like syndrome, Cataract 41,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Uncertain significance
(Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303647
- GRCh38:
- Chr4:6301920
| WFS1 | V709M | Wolfram syndrome 1, Wolfram-like syndrome, Cataract 41,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Uncertain significance
(Apr 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303206
- GRCh38:
- Chr4:6301479
| WFS1 | G562S | Wolfram syndrome 1, Wolfram-like syndrome, Cataract 41,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided,
Inborn genetic diseases | Uncertain significance
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303002
- GRCh38:
- Chr4:6301275
| WFS1 | G494S | Wolfram syndrome 1, Wolfram-like syndrome, Cataract 41,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Uncertain significance
(Jun 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6293668
- GRCh38:
- Chr4:6291941
| WFS1 | V219A | Wolfram syndrome 1, Wolfram-like syndrome, Cataract 41,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided,
Inborn genetic diseases | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303734
- GRCh38:
- Chr4:6302007
| WFS1 | A738T | Wolfram syndrome 1, Wolfram-like syndrome, Cataract 41,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303837
- GRCh38:
- Chr4:6302110
| WFS1 | R772H | not provided, Wolfram syndrome 1, Wolfram-like syndrome,
Cataract 41, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
| Uncertain significance
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303072
- GRCh38:
- Chr4:6301345
| WFS1 | R517H | not provided, Wolfram syndrome 1, Wolfram-like syndrome,
Cataract 41, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
| Uncertain significance
(May 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302993
- GRCh38:
- Chr4:6301266
| WFS1 | V491M | Inborn genetic diseases, not provided, Wolfram syndrome 1,
Wolfram-like syndrome, Cataract 41, Autosomal dominant nonsyndromic hearing loss 6,
Type 2 diabetes mellitus | Uncertain significance
(Dec 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303405
- GRCh38:
- Chr4:6301678
| WFS1 | T628M | Inborn genetic diseases, Cataract 41, Autosomal dominant nonsyndromic hearing loss 6,
Type 2 diabetes mellitus, Wolfram-like syndrome, Wolfram syndrome 1,
not provided | Uncertain significance
(Feb 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303071
- GRCh38:
- Chr4:6301344
| WFS1 | R517C | not provided, Wolfram syndrome 1, Wolfram-like syndrome,
Cataract 41, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
| Uncertain significance
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6279295
- GRCh38:
- Chr4:6277568
| WFS1 | S38N | Wolfram syndrome 1, Wolfram-like syndrome, Cataract 41,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Uncertain significance
(Jun 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6288891
- GRCh38:
- Chr4:6287164
| WFS1 | A102T | Wolfram syndrome 1, Wolfram-like syndrome, Cataract 41,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided,
Inborn genetic diseases | Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6296879
- GRCh38:
- Chr4:6295152
| WFS1 | A275G | Wolfram syndrome 1, Wolfram-like syndrome, Cataract 41,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Uncertain significance
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302765
- GRCh38:
- Chr4:6301038
| WFS1 | V415I | Wolfram syndrome 1, Wolfram-like syndrome, Cataract 41,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6279201
- GRCh38:
- Chr4:6277474
| WFS1 | P7S | not provided, Wolfram syndrome 1, Wolfram-like syndrome,
Cataract 41, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
| Uncertain significance
(Mar 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302886
- GRCh38:
- Chr4:6301159
| WFS1 | T455M | not provided, Cataract 41, Wolfram syndrome 1,
Wolfram-like syndrome, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
| Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6293076
- GRCh38:
- Chr4:6291349
| WFS1 | G205S | Cataract 41, Wolfram-like syndrome, Wolfram syndrome 1,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Uncertain significance
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303167
- GRCh38:
- Chr4:6301440
| WFS1 | L549M | not provided, Cataract 41, Wolfram syndrome 1,
Wolfram-like syndrome, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
| Uncertain significance
(May 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302733
- GRCh38:
- Chr4:6301006
| WFS1 | P404L | Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6293650
- GRCh38:
- Chr4:6291923
| WFS1 | G213E | Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Uncertain significance
(Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302765
- GRCh38:
- Chr4:6301038
| WFS1 | V415L | Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6304118
- GRCh38:
- Chr4:6302391
| WFS1 | D866Y | Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6290793
- GRCh38:
- Chr4:6289066
| WFS1 | L132R | not provided, Cataract 41, Wolfram syndrome 1,
Wolfram-like syndrome, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
| Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302841
- GRCh38:
- Chr4:6301114
| WFS1 | T440I | not provided, Cataract 41, Wolfram syndrome 1,
Wolfram-like syndrome, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
| Uncertain significance
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303171
- GRCh38:
- Chr4:6301444
| WFS1 | E550A | not provided, Cataract 41, Wolfram syndrome 1,
Wolfram-like syndrome, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
| Uncertain significance
(Feb 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6293056
- GRCh38:
- Chr4:6291329
| WFS1 | A198V | Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Uncertain significance
(Aug 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303000
- GRCh38:
- Chr4:6301273
| WFS1 | V493A | not provided, Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6,
Type 2 diabetes mellitus, Wolfram-like syndrome, Cataract 41
| Uncertain significance
(May 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303818
- GRCh38:
- Chr4:6302091
| WFS1 | H766Y | Wolfram syndrome 1, not provided | Uncertain significance/Uncertain risk allele
(Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6304050
- GRCh38:
- Chr4:6302323
| WFS1 | K843M | not provided | Uncertain significance
(Mar 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:6304102
- GRCh38:
- Chr4:6302375
| WFS1 | H860Q | not provided, Wolfram-like syndrome, Cataract 41,
Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
| Uncertain significance
(Sep 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6292990
- GRCh38:
- Chr4:6291263
| WFS1 | V176A | not provided, Wolfram-like syndrome, Cataract 41,
Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
| Uncertain significance
(Dec 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303306
- GRCh38:
- Chr4:6301579
| WFS1 | T595I | not provided, Wolfram-like syndrome, Cataract 41,
Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
| Uncertain significance
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302888
- GRCh38:
- Chr4:6301161
| WFS1 | R456C | not provided, Wolfram-like syndrome, Cataract 41,
Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
| Uncertain significance
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302598
- GRCh38:
- Chr4:6300871
| WFS1 | I359N | Wolfram-like syndrome, Cataract 41, Wolfram syndrome 1,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Uncertain significance
(Dec 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6279408
- GRCh38:
- Chr4:6277681
| WFS1 | G76S | Wolfram-like syndrome, Cataract 41, Wolfram syndrome 1,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Uncertain significance
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302501
- GRCh38:
- Chr4:6300774
| WFS1 | L327F | Wolfram-like syndrome, Cataract 41, Wolfram syndrome 1,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Uncertain significance
(Oct 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6293086
- GRCh38:
- Chr4:6291359
| WFS1 | N208S | Wolfram-like syndrome, Cataract 41, Wolfram syndrome 1,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6279259
- GRCh38:
- Chr4:6277532
| WFS1 | R26Q | Wolfram-like syndrome, Cataract 41, Wolfram syndrome 1,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Uncertain significance
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302966
- GRCh38:
- Chr4:6301239
| WFS1 | K482Q | Wolfram-like syndrome, Cataract 41, Wolfram syndrome 1,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Uncertain significance
(Jan 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303812
- GRCh38:
- Chr4:6302085
| WFS1 | P764A | Wolfram-like syndrome, Cataract 41, Wolfram syndrome 1,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Uncertain significance
(Dec 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302622
- GRCh38:
- Chr4:6300895
| WFS1 | D367G | Wolfram-like syndrome, Cataract 41, Wolfram syndrome 1,
Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, not provided
| Uncertain significance
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303063-6303065
- GRCh38:
- Chr4:6301336-6301338
| WFS1 | F516del | Cataract 41, Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6,
Type 2 diabetes mellitus, Wolfram-like syndrome, not provided
| Pathogenic/Likely pathogenic
(May 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302398
- GRCh38:
- Chr4:6300671
| WFS1 | | Cataract 41, Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6,
Type 2 diabetes mellitus, Wolfram-like syndrome, not provided
| Likely benign
(Aug 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303630
- GRCh38:
- Chr4:6301903
| WFS1 | R703H | not provided, Cataract 41, Wolfram syndrome 1,
Wolfram-like syndrome, Type 2 diabetes mellitus, Autosomal dominant nonsyndromic hearing loss 6
| Uncertain significance
(Apr 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6290741
- GRCh38:
- Chr4:6289014
| WFS1 | G115S | not provided, Cataract 41, Wolfram syndrome 1,
Wolfram-like syndrome, Type 2 diabetes mellitus, Autosomal dominant nonsyndromic hearing loss 6
| Uncertain significance
(Sep 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6290785
- GRCh38:
- Chr4:6289058
| WFS1 | W129* | Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome,
Type 2 diabetes mellitus, Autosomal dominant nonsyndromic hearing loss 6, Wolfram syndrome 1
| Pathogenic/Likely pathogenic
(May 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6292973
- GRCh38:
- Chr4:6291246
| WFS1 | | not provided, Cataract 41, Wolfram syndrome 1,
Wolfram-like syndrome, Type 2 diabetes mellitus, Autosomal dominant nonsyndromic hearing loss 6
| Likely benign
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303471
- GRCh38:
- Chr4:6301744
| WFS1 | Y650C | Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome,
Type 2 diabetes mellitus, Autosomal dominant nonsyndromic hearing loss 6, not provided
| Uncertain significance
(Mar 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303014
- GRCh38:
- Chr4:6301287
| WFS1 | V498I | not provided, Cataract 41, Wolfram syndrome 1,
Wolfram-like syndrome, Type 2 diabetes mellitus, Autosomal dominant nonsyndromic hearing loss 6
| Uncertain significance
(Feb 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303266
- GRCh38:
- Chr4:6301539
| WFS1 | V582M | Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome,
Type 2 diabetes mellitus, Autosomal dominant nonsyndromic hearing loss 6, not provided
| Uncertain significance
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6304124
- GRCh38:
- Chr4:6302397
| WFS1 | R868C | Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome,
Type 2 diabetes mellitus, Autosomal dominant nonsyndromic hearing loss 6, not provided
| Uncertain significance
(Jan 31, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6290791
- GRCh38:
- Chr4:6289064
| WFS1 | | Cataract 41, Wolfram syndrome 1, Wolfram-like syndrome,
Type 2 diabetes mellitus, Autosomal dominant nonsyndromic hearing loss 6, not provided
| Likely benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6292977
- GRCh38:
- Chr4:6291250
| WFS1 | | Cataract 41, Wolfram-like syndrome, Type 2 diabetes mellitus,
Autosomal dominant nonsyndromic hearing loss 6, Wolfram syndrome 1, not provided
| Likely benign
(Aug 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303773
- GRCh38:
- Chr4:6302046
| WFS1 | E751K | Inborn genetic diseases, Cataract 41, Wolfram-like syndrome,
Type 2 diabetes mellitus, Autosomal dominant nonsyndromic hearing loss 6, Wolfram syndrome 1,
not provided | Uncertain significance
(Apr 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6302786
- GRCh38:
- Chr4:6301059
| WFS1 | A422T | Cataract 41, Wolfram-like syndrome, Type 2 diabetes mellitus,
Autosomal dominant nonsyndromic hearing loss 6, Wolfram syndrome 1, not provided
| Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:6303903
- GRCh38:
- Chr4:6302176
| WFS1 | E794G | not provided, Cataract 41, Wolfram-like syndrome,
Type 2 diabetes mellitus, Autosomal dominant nonsyndromic hearing loss 6, Wolfram syndrome 1
| Uncertain significance
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |