Total 331 pathogenic variants reported for Wolfram syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001008388.5(CISD2):c.109G>C (p.Glu37Gln) SNV
Germline
Chr4:102885221 Pathogenic Wolfram syndrome 2 No Assertion Criteria Provided
CA114614 rs_63749888

1 SubmittersRCV000000940

NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu) SNV
Germline
Chr4:6301966 Conflicting classifications of pathogenicity Wolfram syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA253184 rs_28937890

5 SubmittersRCV000004767RCV000756934

NM_006005.3(WFS1):c.2084G>T (p.Gly695Val) SNV
Germline
Chr4:6301879 Pathogenic/Likely pathogenic Wolfram syndrome 1
Condition: not provided
Wolfram syndrome 1
Cataract 41
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Criteria Provided
Multiple Submitters
No Conflicts
CA253186 rs_28937891

3 SubmittersRCV000004768RCV005089167RCV005031390

NM_006005.3(WFS1):c.1944G>A (p.Trp648Ter) SNV
Germline
Chr4:6301739 Pathogenic Wolfram syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA253188 rs_104893879

3 SubmittersRCV000004769RCV003114176

NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) SNV
Germline
Chr4:6301306 Pathogenic/Likely pathogenic Wolfram syndrome 1
Wolfram syndrome 1
Wolfram-like syndrome
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Cataract 41
Wolfram-like syndrome
Type 2 diabetes mellitus
WFS1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA253190 rs_28937892

7 SubmittersRCV000004770RCV002243622RCV001387727RCV002496259RCV004737135

NM_006005.3(WFS1):c.460+1G>A SNV
Germline
Chr4:6289132 Pathogenic Wolfram syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA356171817 rs_1191510461

3 SubmittersRCV000004773RCV001588798

NM_006005.3(WFS1):c.676C>T (p.Gln226Ter) SNV
Germline
Chr4:6291961 Pathogenic Wolfram syndrome 1 Criteria Provided
Single Submitter
CA253192 rs_104893880

2 SubmittersRCV000004774

NM_006005.3(WFS1):c.2455C>T (p.Gln819Ter) SNV
Germline
Chr4:6302250 Pathogenic Wolfram syndrome 1 No Assertion Criteria Provided
CA253194 rs_104893881

1 SubmittersRCV000004775

NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) SNV
Germline
Chr4:6302281 Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Inborn genetic diseases
Wolfram syndrome 1
Cataract 41
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA253199 rs_104893883

7 SubmittersRCV000004779RCV000726781RCV001267554RCV005041982RCV003155015

NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) SNV
Germline
Chr4:6302385 Pathogenic/Likely pathogenic Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Rare genetic deafness
Wolfram syndrome 1
Nonsyndromic genetic hearing loss
Autosomal dominant nonsyndromic hearing loss
See cases
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA116903 rs_74315205

13 SubmittersRCV000004784RCV000020637RCV000523215RCV000599631RCV001528145RCV001544536RCV004794324RCV004797754RCV004814826

NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln) SNV
Germline
Chr4:6302371 Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Cataract 41
Wolfram syndrome 1
Type 2 diabetes mellitus
WFS1-related disorder
Optic atrophy
Criteria Provided
Conflicting Classifications
CA253207 rs_121912618

7 SubmittersRCV000004787RCV000480362RCV002490313RCV004532289RCV004814827

NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) SNV
Germline
Chr4:6301846 Pathogenic/Likely pathogenic Wolfram-like syndrome
Wolfram syndrome 1
Condition: not provided
Inborn genetic diseases
Autosomal dominant nonsyndromic hearing loss 6
WFS1-related disorder
Optic atrophy
Rare genetic deafness
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss
WFS1-spectrum disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA129328 rs_387906930

24 SubmittersRCV000023514RCV000023515RCV000200668RCV000623116RCV001542531RCV002280094RCV004814922RCV000605882RCV004808555RCV005252698

NM_006005.3(WFS1):c.1185C>T (p.Val395=) SNV
Germline
Chr4:6300980 Conflicting classifications of pathogenicity not specified
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA136330 rs_1801206

13 SubmittersRCV000038635RCV000344908RCV000380942RCV001523397RCV002463627

NM_006005.3(WFS1):c.1367G>A (p.Arg456His) SNV
Germline
Chr4:6301162 Conflicting classifications of pathogenicity not specified
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA136332 rs_1801208

10 SubmittersRCV000038638RCV000363867RCV000269758RCV001523400RCV002464096

NM_006005.3(WFS1):c.143C>T (p.Ala48Val) SNV
Germline
Chr4:6277598 Conflicting classifications of pathogenicity not specified
Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA136334 rs_397517195

4 SubmittersRCV000038639RCV000766857RCV002509035

NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) SNV
Germline
Chr4:6301290 Conflicting classifications of pathogenicity not specified
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Monogenic diabetes
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Wolfram-like syndrome
Optic atrophy
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA282572 rs_114152068

15 SubmittersRCV000038640RCV000329452RCV000384013RCV000664089RCV000870509RCV002504898RCV004814957RCV002464097

NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) SNV
Germline
Chr4:6301521 Conflicting classifications of pathogenicity not specified
Autosomal dominant nonsyndromic hearing loss 6
Monogenic diabetes
WFS1-Related Spectrum Disorders
Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA282576 rs_1805069

12 SubmittersRCV000038643RCV000307804RCV000445534RCV000362526RCV000755448RCV002464003

NM_006005.3(WFS1):c.1820C>T (p.Pro607Leu) SNV
Germline
Chr4:6301615 Conflicting classifications of pathogenicity not specified
Monogenic diabetes
Condition: not provided
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Wolfram-like syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA136338 rs_373862003

7 SubmittersRCV000038645RCV001174424RCV001588853RCV002482999RCV002513506

NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) SNV
Germline
Chr4:6301681 Conflicting classifications of pathogenicity Rare genetic deafness
Condition: not provided
Monogenic diabetes
Inborn genetic diseases
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Wolfram-like syndrome
Criteria Provided
Conflicting Classifications
CA261748 rs_146670741

8 SubmittersRCV000038647RCV000196272RCV001174425RCV002513507RCV003125863RCV005031475

NM_006005.3(WFS1):c.2335G>A (p.Val779Met) SNV
Germline
Chr4:6302130 Conflicting classifications of pathogenicity not specified
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Condition: not provided
Monogenic diabetes
Optic atrophy
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Wolfram-like syndrome
Criteria Provided
Conflicting Classifications
CA282584 rs_141328044

15 SubmittersRCV000038657RCV000300529RCV000404342RCV000515097RCV000664095RCV004814958RCV002464005RCV002496613

NM_006005.3(WFS1):c.2611G>A (p.Val871Met) SNV
Germline
Chr4:6302406 Conflicting classifications of pathogenicity not specified
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Monogenic diabetes
WFS1-Related Spectrum Disorders
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Cataract 41
Wolfram syndrome 1
Type 2 diabetes mellitus
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA285655 rs_71532874

18 SubmittersRCV000081342RCV000342228RCV000421798RCV000445441RCV001156285RCV002498427RCV002464106

NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr) SNV
Germline
Chr4:6300819 Conflicting classifications of pathogenicity Condition: not provided
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
not specified
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Wolfram-like syndrome
Criteria Provided
Conflicting Classifications
CA231652 rs_148028521

7 SubmittersRCV000118863RCV001157250RCV001157249RCV002509227RCV000825497RCV005031615

NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) SNV
Germline
Chr4:6302247 Conflicting classifications of pathogenicity not specified
Condition: not provided
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Monogenic diabetes
Autosomal dominant nonsyndromic hearing loss 6
Criteria Provided
Conflicting Classifications
CA289140 rs_35932623

15 SubmittersRCV000118865RCV000487646RCV000336052RCV000987413RCV000445373RCV000403034

NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) SNV
Germline
Chr4:6301089 Conflicting classifications of pathogenicity not specified
WFS1-Related Spectrum Disorders
Monogenic diabetes
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram syndrome 1
Meniere disease
Criteria Provided
Conflicting Classifications
CA295801 rs_35031397

16 SubmittersRCV000155411RCV000351887RCV000445544RCV001157342RCV000415767RCV000987408RCV004567069

NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) SNV
Germline
Chr4:6301392 Conflicting classifications of pathogenicity not specified
WFS1-Related Spectrum Disorders
Monogenic diabetes
Condition: not provided
WFS1-related disorder
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Inborn genetic diseases
Retinal dystrophy
Optic atrophy
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA232537 rs_146132083

13 SubmittersRCV000155342RCV001151987RCV000664090RCV000724541RCV004528845RCV005025204RCV001151986RCV002514675RCV004815194RCV004815195RCV004820834

NM_006005.3(WFS1):c.2052G>A (p.Ala684=) SNV
Germline
Chr4:6301847 Conflicting classifications of pathogenicity Condition: not provided
not specified
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA295578 rs_71539668

11 SubmittersRCV000487609RCV000152687RCV001157672RCV001157673RCV003126508

NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) SNV
Germline
Chr4:6302004 Conflicting classifications of pathogenicity Condition: not provided
not specified
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA232844 rs_147834269

8 SubmittersRCV000132656RCV000155350RCV000264975RCV000324875RCV000490497

NM_006005.3(WFS1):c.799G>A (p.Asp267Asn) SNV
Germline
Chr4:6295127 Conflicting classifications of pathogenicity not specified
Condition: not provided
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Wolfram-like syndrome
Lymphedema
Criteria Provided
Conflicting Classifications
CA295570 rs_145677667

9 SubmittersRCV000152667RCV000767003RCV005031660RCV005625327

NM_006005.3(WFS1):c.1152C>T (p.Phe384=) SNV
Germline
Chr4:6300947 Conflicting classifications of pathogenicity not specified
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA182616 rs_149846741

9 SubmittersRCV000155338RCV000733966RCV001153036RCV001153037RCV002509042

NM_006005.3(WFS1):c.1219C>T (p.His407Tyr) SNV
Germline
Chr4:6301014 Conflicting classifications of pathogenicity not specified
Condition: not provided
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA179639 rs_151244358

5 SubmittersRCV000152670RCV001308356RCV002505159RCV002509252

NM_006005.3(WFS1):c.1392C>T (p.Thr464=) SNV
Germline
Chr4:6301187 Conflicting classifications of pathogenicity not specified
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
WFS1-Related Spectrum Disorders
Condition: not provided
Criteria Provided
Conflicting Classifications
CA179649 rs_565697340

5 SubmittersRCV000152675RCV001153153RCV003126546RCV001153152RCV001505804

NM_006005.3(WFS1):c.1758C>T (p.Ala586=) SNV
Germline
Chr4:6301553 Conflicting classifications of pathogenicity not specified
Condition: not provided
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Criteria Provided
Conflicting Classifications
CA182626 rs_145144527

9 SubmittersRCV000155345RCV001704130RCV000272593RCV003126556RCV000327617

NM_006005.3(WFS1):c.1922C>A (p.Thr641Lys) SNV
Germline
Chr4:6301717 Conflicting classifications of pathogenicity not specified
Condition: not provided
Wolfram-like syndrome
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA179659 rs_376626985

3 SubmittersRCV000152683RCV001857526RCV005365046

NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys) SNV
Germline
Chr4:6301752 Conflicting classifications of pathogenicity not specified
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Wolfram-like syndrome
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Retinal dystrophy
WFS1-Related Spectrum Disorders
WFS1-related disorder
Criteria Provided
Conflicting Classifications
CA295791 rs_201064551

10 SubmittersRCV000155347RCV000767006RCV000677339RCV000515318RCV004815243RCV001152091RCV004534992

NM_006005.3(WFS1):c.2323T>G (p.Phe775Val) SNV
Germline
Chr4:6302118 Conflicting classifications of pathogenicity not specified
Wolfram syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA179673 rs_727503753

3 SubmittersRCV000152694RCV003147359RCV005512709

NM_006005.3(WFS1):c.2369C>G (p.Ser790Trp) SNV
Germline
Chr4:6302164 Conflicting classifications of pathogenicity not specified
Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA295582 rs_369107336

3 SubmittersRCV000152697RCV002056020RCV003148661

NM_006005.3(WFS1):c.2454C>T (p.Arg818=) SNV
Germline
Chr4:6302249 Conflicting classifications of pathogenicity not specified
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA182630 rs_139223980

4 SubmittersRCV000155351RCV001157875RCV001157876RCV003147364RCV003546482

NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) SNV
Germline
Chr4:6302391 Conflicting classifications of pathogenicity not specified
Monogenic diabetes
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA182744 rs_3821945

11 SubmittersRCV000155412RCV000664098RCV000871130RCV000284874RCV002492587RCV000376917RCV002464132

NM_006005.3(WFS1):c.2667G>A (p.Ala889=) SNV
Germline
Chr4:6302462 Conflicting classifications of pathogenicity not specified
Condition: not provided
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA179687 rs_71526454

8 SubmittersRCV000152702RCV000864405RCV001157955RCV001156288RCV003128231

NM_006005.3(WFS1):c.128C>T (p.Ala43Val) SNV
Germline
Chr4:6277583 Conflicting classifications of pathogenicity not specified
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA179627 rs_727503746

2 SubmittersRCV000152662RCV002509039

NM_006005.3(WFS1):c.325C>T (p.His109Tyr) SNV
Germline
Chr4:6288996 Conflicting classifications of pathogenicity not specified
Monogenic diabetes
Condition: not provided
Wolfram syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA179631 rs_112871383

8 SubmittersRCV000152664RCV000664085RCV000727284RCV002509041RCV002516064

NM_006005.3(WFS1):c.654C>T (p.Pro218=) SNV
Germline
Chr4:6291939 Conflicting classifications of pathogenicity not specified
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram syndrome 1
WFS1-related disorder
Criteria Provided
Conflicting Classifications
CA183810 rs_727504666

5 SubmittersRCV000155932RCV001155462RCV001155461RCV002056106RCV002509043RCV004544445

NM_006005.3(WFS1):c.1237T>G (p.Phe413Val) SNV
Germline
Chr4:6301032 Conflicting classifications of pathogenicity not specified
Condition: not provided
Wolfram syndrome 1
Inborn genetic diseases
WFS1-related disorder
Criteria Provided
Conflicting Classifications
CA179641 rs_71524356

6 SubmittersRCV000152671RCV001719944RCV002509253RCV002514938RCV004737235

NM_006005.3(WFS1):c.1743C>T (p.Gly581=) SNV
Germline
Chr4:6301538 Conflicting classifications of pathogenicity not specified
Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA179657 rs_377539343

6 SubmittersRCV000152681RCV000725029RCV003126550

NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr) SNV
Germline
Chr4:6301587 Conflicting classifications of pathogenicity not specified
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA182628 rs_140125843

7 SubmittersRCV000155346RCV001155848RCV001155849RCV003126557RCV001510415

NM_006005.3(WFS1):c.2293T>C (p.Cys765Arg) SNV
Germline
Chr4:6302088 Conflicting classifications of pathogenicity not specified
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA179671 rs_727503752

2 SubmittersRCV000152693RCV003128187

NM_006005.3(WFS1):c.2470G>A (p.Glu824Lys) SNV
Germline
Chr4:6302265 Conflicting classifications of pathogenicity not specified
Condition: not provided
Wolfram syndrome 1
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA179683 rs_367547063

6 SubmittersRCV000152700RCV000726782RCV003147360RCV002498721

NM_006005.3(WFS1):c.917T>C (p.Met306Thr) SNV
Germline
Chr4:6300712 Conflicting classifications of pathogenicity not specified
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Monogenic diabetes
Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA180501 rs_146114074

12 SubmittersRCV000154149RCV000312681RCV000355811RCV001174388RCV000870981RCV002464008

NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) SNV
Germline
Chr4:6277579 Pathogenic/Likely pathogenic Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Wolfram-like syndrome
Type 2 diabetes mellitus
Inborn genetic diseases
Meniere disease
WFS1-related disorder
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Wolfram-like syndrome
Condition: not provided
Wolfram syndrome 1
Wolfram-like syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA274502 rs_71530923

16 SubmittersRCV000169684RCV001536034RCV001199167RCV002515205RCV004567372RCV004528924RCV000509458RCV000514926RCV002467643

NM_006005.3(WFS1):c.862G>A (p.Val288Met) SNV
Germline
Chr4:6300657 Conflicting classifications of pathogenicity not specified
WFS1-related disorder
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Criteria Provided
Conflicting Classifications
CA236437 rs_71537685

6 SubmittersRCV000171514RCV004737263RCV002498858RCV001303065RCV004584621

NM_006005.3(WFS1):c.683G>A (p.Arg228His) SNV
Germline
Chr4:6291968 Conflicting classifications of pathogenicity Wolfram-like syndrome
not specified
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Wolfram-like syndrome
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
WFS1-related disorder
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA246711 rs_150771247

16 SubmittersRCV000023512RCV000200201RCV000515386RCV000724125RCV001155464RCV001155463RCV004537488RCV004816299

NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) SNV
Germline
Chr4:6301467 Pathogenic/Likely pathogenic Wolfram syndrome
not specified
Condition: not provided
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Diabetes mellitus
Optic atrophy
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41
Retinal dystrophy
Type 2 diabetes mellitus
WFS1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA275434 rs_199946797

16 SubmittersRCV000501459RCV000599628RCV000255189RCV000778739RCV001706152RCV001175325RCV004816309RCV005042394RCV004816308RCV003227696RCV004537507

NM_006005.3(WFS1):c.2380G>A (p.Glu794Lys) SNV
Germline
Chr4:6302175 Conflicting classifications of pathogenicity Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA247675 rs_201078003

5 SubmittersRCV000724671RCV003148665

NM_006005.3(WFS1):c.2181C>T (p.Ile727=) SNV
Germline
Chr4:6301976 Conflicting classifications of pathogenicity Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA247677 rs_140286718

4 SubmittersRCV000180292RCV003126572

NM_006005.3(WFS1):c.2263T>C (p.Cys755Arg) SNV
Germline
Chr4:6302058 Likely pathogenic/Likely risk allele Wolfram syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA276183 rs_797045075

3 SubmittersRCV000191145RCV001852540

NM_006005.3(WFS1):c.873C>G (p.Tyr291Ter) SNV
Germline
Chr4:6300668 Pathogenic Wolfram syndrome Criteria Provided
Single Submitter
CA276989 rs_777580652

1 SubmittersRCV000192573

NM_006005.3(WFS1):c.2185G>A (p.Asp729Asn) SNV
Germline
Chr4:6301980 Conflicting classifications of pathogenicity not specified
Condition: not provided
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Criteria Provided
Conflicting Classifications
CA205181 rs_575778537

3 SubmittersRCV000192394RCV001504622RCV005042416

NM_006005.3(WFS1):c.2369C>A (p.Ser790Ter) SNV
Germline
Chr4:6302164 Pathogenic Wolfram syndrome Criteria Provided
Single Submitter
CA277064 rs_369107336

1 SubmittersRCV000193050

NM_006005.3(WFS1):c.2424C>T (p.Ser808=) SNV
Germline
Chr4:6302219 Conflicting classifications of pathogenicity not specified
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram syndrome 1
WFS1-related disorder
Criteria Provided
Conflicting Classifications
CA208765 rs_56035336

9 SubmittersRCV000194535RCV000327535RCV000386848RCV000727290RCV003128234RCV004530151

NM_006005.3(WFS1):c.56C>T (p.Pro19Leu) SNV
Germline
Chr4:6277511 Conflicting classifications of pathogenicity Condition: not provided
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA320079 rs_376335216

4 SubmittersRCV001705136RCV002478695RCV003126588

NM_006005.3(WFS1):c.92C>G (p.Ala31Gly) SNV
Germline
Chr4:6277547 Conflicting classifications of pathogenicity Condition: not provided
Wolfram syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA322377 rs_550975729

4 SubmittersRCV002057034RCV002509048RCV004020437

NM_006005.3(WFS1):c.169G>T (p.Ala57Ser) SNV
Germline
Chr4:6277624 Conflicting classifications of pathogenicity not specified
Condition: not provided
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Criteria Provided
Conflicting Classifications
CA320631 rs_372783392

3 SubmittersRCV000196208RCV001853210RCV005031737

NM_006005.3(WFS1):c.227G>T (p.Gly76Val) SNV
Germline
Chr4:6277682 Conflicting classifications of pathogenicity not specified
Monogenic diabetes
Condition: not provided
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Inborn genetic diseases
Wolfram syndrome 1
WFS1-related disorder
Criteria Provided
Conflicting Classifications
CA322171 rs_200135768

9 SubmittersRCV000197713RCV000445379RCV000945649RCV001151497RCV001151498RCV002517278RCV002509049RCV004541269

NM_006005.3(WFS1):c.505G>A (p.Glu169Lys) SNV
Germline
Chr4:6291241 Pathogenic Condition: not provided
WFS1-related disorder
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Wolfram syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA321089 rs_148953711

6 SubmittersRCV000196664RCV004530178RCV005031738RCV004786525

NM_006005.3(WFS1):c.631G>A (p.Asp211Asn) SNV
Germline
Chr4:6291367 Pathogenic/Likely pathogenic Condition: not provided
WFS1-related disorder
Inborn genetic diseases
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Type 2 diabetes mellitus
Cataract 41
Wolfram-like syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA320894 rs_138682654

5 SubmittersRCV000196477RCV004737310RCV004020438RCV005031739

NM_006005.3(WFS1):c.728C>T (p.Ala243Val) SNV
Germline
Chr4:6295056 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
not specified
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Inborn genetic diseases
Monogenic diabetes
Hereditary ataxia
Criteria Provided
Conflicting Classifications
CA324030 rs_147147660

11 SubmittersRCV000732080RCV001157140RCV000825496RCV001157139RCV000765775RCV002517279RCV001174387RCV005625437

NM_006005.3(WFS1):c.817G>A (p.Glu273Lys) SNV
Germline
Chr4:6295145 Conflicting classifications of pathogenicity not specified
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Condition: not provided
Criteria Provided
Conflicting Classifications
CA324907 rs_142428158

4 SubmittersRCV000200344RCV000765776RCV000767004

NM_006005.3(WFS1):c.976G>A (p.Ala326Thr) SNV
Germline
Chr4:6300771 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Wolfram syndrome 1
Optic atrophy
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Wolfram-like syndrome
Criteria Provided
Conflicting Classifications
CA321512 rs_200790641

6 SubmittersRCV002102698RCV003015247RCV002509128RCV004816958RCV005032159

NM_006005.3(WFS1):c.1015G>A (p.Asp339Asn) SNV
Germline
Chr4:6300810 Conflicting classifications of pathogenicity not specified
Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA323935 rs_772392224

4 SubmittersRCV000199397RCV001853207RCV002509293

NM_006005.3(WFS1):c.1135G>A (p.Asp379Asn) SNV
Germline
Chr4:6300930 Conflicting classifications of pathogenicity not specified
Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA319808 rs_772554352

3 SubmittersRCV000195462RCV002517273RCV002509047

NM_006005.3(WFS1):c.1195T>G (p.Trp399Gly) SNV
Germline
Chr4:6300990 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Type 2 diabetes mellitus
Cataract 41
Wolfram-like syndrome
WFS1-related disorder
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA320196 rs_767561828

6 SubmittersRCV000727080RCV002500615RCV004530179RCV002509294

NM_006005.3(WFS1):c.1235T>C (p.Val412Ala) SNV
Germline
Chr4:6301030 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
not specified
Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA322524 rs_144951440

5 SubmittersRCV000345927RCV000490282RCV000825691RCV000953870RCV000987407

NM_006005.3(WFS1):c.1316T>G (p.Phe439Cys) SNV
Germline
Chr4:6301111 Conflicting classifications of pathogenicity Hearing impairment
Condition: not provided
WFS1-related disorder
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Criteria Provided
Conflicting Classifications
CA324094 rs_141585847

6 SubmittersRCV001375053RCV000199551RCV004530180RCV005625438RCV005025322

NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) SNV
Germline
Chr4:6301166 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Monogenic diabetes
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41
not specified
Hearing impairment
Spastic ataxia
Inborn genetic diseases
WFS1-related disorder
Criteria Provided
Conflicting Classifications
CA320009 rs_113446173

14 SubmittersRCV000488089RCV001153150RCV001153151RCV001174421RCV000765780RCV000603890RCV001375054RCV001640297RCV004020439RCV004530181

NM_006005.3(WFS1):c.1507G>A (p.Val503Ile) SNV
Germline
Chr4:6301302 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Wolfram-like syndrome
Criteria Provided
Conflicting Classifications
CA321920 rs_573775230

5 SubmittersRCV001155751RCV001155752RCV001722099RCV003126580RCV005031734

NM_006005.3(WFS1):c.1657G>A (p.Gly553Ser) SNV
Germline
Chr4:6301452 Conflicting classifications of pathogenicity Condition: not provided
Wolfram syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA321171 rs_150840308

4 SubmittersRCV000196751RCV003126581RCV002515446

NM_006005.3(WFS1):c.1684G>C (p.Gly562Arg) SNV
Germline
Chr4:6301479 Likely pathogenic/Likely risk allele Condition: not provided
Wolfram syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA322818 rs_753237278

2 SubmittersRCV000198315RCV003126589

NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) SNV
Germline
Chr4:6301555 Conflicting classifications of pathogenicity not specified
Condition: not provided
Monogenic diabetes
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Inborn genetic diseases
Type 2 diabetes mellitus
Wolfram syndrome 1
WFS1-related disorder
Optic atrophy
Criteria Provided
Conflicting Classifications
CA324347 rs_71539657

12 SubmittersRCV000199802RCV000726428RCV000445430RCV001155846RCV001155847RCV002517275RCV003227712RCV004737309RCV004816334

NM_006005.3(WFS1):c.1779G>C (p.Glu593Asp) SNV
Germline
Chr4:6301574 Conflicting classifications of pathogenicity not specified
Condition: not provided
Inborn genetic diseases
Wolfram syndrome 1
WFS1-related disorder
Criteria Provided
Conflicting Classifications
CA320964 rs_144783536

9 SubmittersRCV000196541RCV001705134RCV004020436RCV003126582RCV004541267

NM_006005.3(WFS1):c.1801G>A (p.Val601Met) SNV
Germline
Chr4:6301596 Conflicting classifications of pathogenicity not specified
Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA323280 rs_147838635

4 SubmittersRCV000198752RCV000728671RCV003126583

NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) SNV
Germline
Chr4:6301815 Conflicting classifications of pathogenicity Condition: not provided
not specified
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Diabetes mellitus
Hearing impairment
Inborn genetic diseases
Wolfram-like syndrome
Retinal dystrophy
Optic atrophy
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41
WFS1-related disorder
Criteria Provided
Conflicting Classifications
CA321852 rs_200672755

17 SubmittersRCV000197395RCV000825499RCV000625904RCV001789765RCV001175319RCV001375186RCV002517281RCV003884394RCV004816335RCV004816336RCV004796093RCV004530182

NM_006005.3(WFS1):c.2054G>A (p.Arg685His) SNV
Germline
Chr4:6301849 Conflicting classifications of pathogenicity Condition: not provided
Hearing impairment
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41
Criteria Provided
Conflicting Classifications
CA322762 rs_142668478

11 SubmittersRCV000513230RCV001375052RCV002288800RCV005042420

NM_006005.3(WFS1):c.2194C>T (p.Arg732Cys) SNV
Germline
Chr4:6301989 Conflicting classifications of pathogenicity Monogenic diabetes
Type 2 diabetes mellitus
Condition: not provided
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Criteria Provided
Conflicting Classifications
CA325020 rs_71526458

5 SubmittersRCV000445445RCV001542532RCV001857736RCV002500616

NM_006005.3(WFS1):c.2254G>T (p.Glu752Ter) SNV
Germline
Chr4:6302049 Pathogenic/Likely pathogenic Condition: not provided
Wolfram-like syndrome
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Criteria Provided
Multiple Submitters
No Conflicts
CA319834 rs_201239579

5 SubmittersRCV000195490RCV001730586RCV005031741

NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu) SNV
Germline
Chr4:6302142 Conflicting classifications of pathogenicity not specified
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Condition: not provided
WFS1-related disorder
Autosomal dominant nonsyndromic hearing loss 6
Inborn genetic diseases
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41
Criteria Provided
Conflicting Classifications
CA323353 rs_71526461

9 SubmittersRCV000198824RCV001152302RCV003147401RCV001722100RCV004530177RCV001152301RCV002517277RCV005031736

NM_006005.3(WFS1):c.2453G>A (p.Arg818His) SNV
Germline
Chr4:6302248 Conflicting classifications of pathogenicity Condition: not provided
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA321767 rs_575851859

4 SubmittersRCV000197313RCV000300930RCV000339404RCV003147402

NM_006005.3(WFS1):c.2603G>A (p.Arg868His) SNV
Germline
Chr4:6302398 Conflicting classifications of pathogenicity Condition: not provided
Autistic behavior
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Inborn genetic diseases
not specified
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41
Criteria Provided
Conflicting Classifications
CA324220 rs_56393026

12 SubmittersRCV000199675RCV000502304RCV001156283RCV001156284RCV002517282RCV004782306RCV004786526RCV002485311

NM_006005.3(WFS1):c.375C>T (p.Thr125=) SNV
Germline
Chr4:6289046 Conflicting classifications of pathogenicity not specified
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2838875 rs_762324196

5 SubmittersRCV000213245RCV002057162RCV001155341RCV001155342RCV002509053

NM_006005.3(WFS1):c.991T>A (p.Phe331Ile) SNV
Germline
Chr4:6300786 Conflicting classifications of pathogenicity not specified
Condition: not provided
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Cataract 41
Wolfram syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2839183 rs_144888979

6 SubmittersRCV000220517RCV001325067RCV002485411RCV002509310RCV004020642

NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu) SNV
Germline
Chr4:6300832 Conflicting classifications of pathogenicity not specified
Condition: not provided
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2839198 rs_773900146

6 SubmittersRCV000221182RCV001291575RCV005025353RCV002288843

NM_006005.3(WFS1):c.1290G>A (p.Ser430=) SNV
Germline
Chr4:6301085 Conflicting classifications of pathogenicity not specified
Nonsyndromic Hearing Loss, Dominant
WFS1-Related Spectrum Disorders
Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2839297 rs_752100338

4 SubmittersRCV000223036RCV000404067RCV000311096RCV001853422RCV003126607

NM_006005.3(WFS1):c.1382C>T (p.Thr461Ile) SNV
Germline
Chr4:6301177 Conflicting classifications of pathogenicity not specified
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA10576638 rs_71530925

2 SubmittersRCV000217826RCV003126610

NM_006005.3(WFS1):c.1399C>T (p.Leu467=) SNV
Germline
Chr4:6301194 Conflicting classifications of pathogenicity not specified
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2839334 rs_142700542

5 SubmittersRCV000216086RCV001153154RCV000945710RCV001153155RCV003150109

NM_006005.3(WFS1):c.2250C>T (p.Ala750=) SNV
Germline
Chr4:6302045 Conflicting classifications of pathogenicity not specified
Condition: not provided
Wolfram syndrome 1
WFS1-related disorder
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Criteria Provided
Conflicting Classifications
CA2839661 rs_369498603

11 SubmittersRCV000220143RCV000993558RCV003128239RCV004532750RCV001156085RCV001156086

NM_006005.3(WFS1):c.2406C>G (p.Ile802Met) SNV
Germline
Chr4:6302201 Conflicting classifications of pathogenicity not specified
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Criteria Provided
Conflicting Classifications
CA2839724 rs_201102144

5 SubmittersRCV000216669RCV002057181RCV005031791RCV004821279

NM_006005.3(WFS1):c.169G>A (p.Ala57Thr) SNV
Germline
Chr4:6277624 Conflicting classifications of pathogenicity not specified
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41
Wolfram syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2838810 rs_372783392

5 SubmittersRCV000238677RCV002509055RCV002479950RCV001857836

NM_006005.3(WFS1):c.2623G>A (p.Val875Met) SNV
Germline
Chr4:6302418 Conflicting classifications of pathogenicity not specified
Wolfram syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2839810 rs_547459104

3 SubmittersRCV000249383RCV003126656RCV005090262

NM_006005.3(WFS1):c.2620G>A (p.Ala874Thr) SNV
Germline
Chr4:6302415 Conflicting classifications of pathogenicity Condition: not provided
Type 2 diabetes mellitus
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Criteria Provided
Conflicting Classifications
CA2839807 rs_200775335

6 SubmittersRCV000312654RCV002480014RCV004584656

NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys) SNV
Germline
Chr4:6301917 Conflicting classifications of pathogenicity Condition: not provided
Monogenic diabetes
Wolfram-like syndrome
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Inborn genetic diseases
WFS1-related disorder
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA2839605 rs_200099217

9 SubmittersRCV000585352RCV000445375RCV002494843RCV004021170RCV004535338RCV004816498

NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala) SNV
Germline
Chr4:6301834 Conflicting classifications of pathogenicity not specified
Monogenic diabetes
Condition: not provided
Wolfram syndrome 1
Wolfram-like syndrome
Wolfram syndrome 1
WFS1-related disorder
Criteria Provided
Conflicting Classifications
CA2839581 rs_144840779

8 SubmittersRCV000354766RCV000664092RCV000725856RCV003126663RCV002467719RCV004543084

NM_006005.3(WFS1):c.2549G>A (p.Cys850Tyr) SNV
Germline
Chr4:6302344 Conflicting classifications of pathogenicity Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2839773 rs_748404777

3 SubmittersRCV000377710RCV003147443

NM_006005.3(WFS1):c.975C>T (p.Asn325=) SNV
Germline
Chr4:6300770 Conflicting classifications of pathogenicity not specified
Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2839177 rs_141177727

4 SubmittersRCV000304909RCV000726076RCV002509056

NM_006005.3(WFS1):c.1871T>C (p.Val624Ala) SNV
Germline
Chr4:6301666 Conflicting classifications of pathogenicity Condition: not provided
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Cataract 41
Wolfram-like syndrome
Type 2 diabetes mellitus
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Criteria Provided
Conflicting Classifications
CA2839529 rs_747477628

4 SubmittersRCV000280969RCV001152089RCV001152090RCV005031869

NM_006005.3(WFS1):c.114C>T (p.Ser38=) SNV
Germline
Chr4:6277569 Conflicting classifications of pathogenicity not specified
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2838798 rs_531593902

5 SubmittersRCV000302883RCV000878611RCV001156918RCV001156919RCV002509057

NM_006005.3(WFS1):c.1416C>A (p.Pro472=) SNV
Germline
Chr4:6301211 Conflicting classifications of pathogenicity Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2839341 rs_530734300

3 SubmittersRCV000312475RCV003126666

NM_006005.3(WFS1):c.-129A>G SNV
Germline
Chr4:6269891 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA10618100 rs_886059522

2 SubmittersRCV000368062RCV000311162RCV002465629

NM_006005.3(WFS1):c.2436C>T (p.Ser812=) SNV
Germline
Chr4:6302231 Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2839736 rs_142630687

5 SubmittersRCV000278650RCV000388081RCV000842423RCV003147449

NM_006005.3(WFS1):c.2481C>T (p.Thr827=) SNV
Germline
Chr4:6302276 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA10618107 rs_886059532

3 SubmittersRCV000364583RCV000307840RCV002057941RCV003147450

NM_006005.3(WFS1):c.1311C>T (p.Gly437=) SNV
Germline
Chr4:6301106 Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA10619003 rs_886059529

2 SubmittersRCV000303795RCV000358560RCV003126692

NM_006005.3(WFS1):c.1333C>G (p.Leu445Val) SNV
Germline
Chr4:6301128 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram syndrome 1
Optic atrophy
Criteria Provided
Conflicting Classifications
CA2839313 rs_764932308

7 SubmittersRCV000268583RCV000323738RCV001795968RCV003126693RCV004816596

NM_006005.3(WFS1):c.2340C>A (p.Gly780=) SNV
Germline
Chr4:6302135 Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA10619010 rs_886059531

2 SubmittersRCV000265146RCV000355409RCV003147448

NM_006005.3(WFS1):c.*506C>T SNV
Germline
Chr4:6302974 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA10619022 rs_886059536

2 SubmittersRCV000272626RCV000383357RCV003126706

NM_006005.3(WFS1):c.-130C>T SNV
Germline
Chr4:6269890 Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10621427 rs_576284630

3 SubmittersRCV000277097RCV000369984RCV002465628RCV002263626

NM_006005.3(WFS1):c.-105T>G SNV
Germline
Chr4:6269915 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA10621428 rs_886059523

2 SubmittersRCV000260447RCV000371417RCV002465631

NM_006005.3(WFS1):c.132C>T (p.Pro44=) SNV
Germline
Chr4:6277587 Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2838805 rs_754346893

3 SubmittersRCV000267799RCV000320494RCV002509060RCV003546544

NM_006005.3(WFS1):c.168C>T (p.Asp56=) SNV
Germline
Chr4:6277623 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2838809 rs_112598170

3 SubmittersRCV000871785RCV000271264RCV000358930RCV002509061

NM_006005.3(WFS1):c.2157C>T (p.Ala719=) SNV
Germline
Chr4:6301952 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA10621440 rs_766900991

3 SubmittersRCV000353840RCV000916957RCV000298215RCV003126694

NM_006005.3(WFS1):c.*258A>G SNV
Germline
Chr4:6302726 Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA10621444 rs_886059533

2 SubmittersRCV000288853RCV000346119RCV003126698

NM_006005.3(WFS1):c.*520G>A SNV
Germline
Chr4:6302988 Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA10621458 rs_573433508

2 SubmittersRCV000294472RCV000351770RCV003126708

NM_006005.3(WFS1):c.-141A>G SNV
Germline
Chr4:6269879 Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10621460 rs_373287522

3 SubmittersRCV000309275RCV000347836RCV002465626RCV003437109

NM_006005.3(WFS1):c.*700C>A SNV
Germline
Chr4:6303168 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA10621462 rs_528424908

2 SubmittersRCV000316482RCV000373505RCV003126715

NM_006005.3(WFS1):c.-133G>T SNV
Germline
Chr4:6269887 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA10621467 rs_886059521

2 SubmittersRCV000308356RCV000397359RCV002465627

NM_006005.3(WFS1):c.-106A>G SNV
Germline
Chr4:6269914 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA10621468 rs_868329184

2 SubmittersRCV000261786RCV000319102RCV002465630

NM_006005.3(WFS1):c.28C>T (p.Pro10Ser) SNV
Germline
Chr4:6277483 Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
not specified
Wolfram syndrome 1
Condition: not provided
Type 2 diabetes mellitus
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Wolfram-like syndrome
Type 2 diabetes mellitus
Wolfram syndrome 1
Cataract 41
Criteria Provided
Conflicting Classifications
CA2838778 rs_760256649

6 SubmittersRCV000295015RCV000348875RCV002248624RCV002508932RCV003546543RCV003227746RCV005033883

NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter) SNV
Germline
Chr4:6301634 Pathogenic WFS1-Related Spectrum Disorders
Diabetes mellitus
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Wolfram-like syndrome
Type 2 diabetes mellitus
Wolfram syndrome 1
Cataract 41
Criteria Provided
Multiple Submitters
No Conflicts
CA2839516 rs_143064649

5 SubmittersRCV000285512RCV001175324RCV001861234RCV002502346

NM_006005.3(WFS1):c.*526A>C SNV
Germline
Chr4:6302994 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA10621491 rs_886059537

2 SubmittersRCV000279361RCV000371638RCV003126709

NM_006005.3(WFS1):c.*605T>C SNV
Germline
Chr4:6303073 Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA10621499 rs_886059538

2 SubmittersRCV000305800RCV000403148RCV003126711

NM_006005.3(WFS1):c.*654G>A SNV
Germline
Chr4:6303122 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA10621500 rs_886059539

2 SubmittersRCV000309170RCV000366224RCV003126713

NM_006005.3(WFS1):c.376G>A (p.Ala126Thr) SNV
Germline
Chr4:6289047 Pathogenic/Likely pathogenic Condition: not provided
Wolfram syndrome 1
Optic atrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA2838877 rs_145639028

6 SubmittersRCV000413912RCV002469144RCV004816642

NM_006005.3(WFS1):c.2191A>G (p.Met731Val) SNV
Germline
Chr4:6301986 Conflicting classifications of pathogenicity Wolfram syndrome 1
Condition: not provided
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Criteria Provided
Conflicting Classifications
CA2839640 rs_144010362

4 SubmittersRCV000415192RCV002521464RCV005033949

NM_006005.3(WFS1):c.231C>T (p.Thr77=) SNV
Germline
Chr4:6277686 Conflicting classifications of pathogenicity Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2838823 rs_372609400

3 SubmittersRCV001721437RCV002509068

NM_006005.3(WFS1):c.172G>A (p.Ala58Thr) SNV
Unknown
Chr4:6277627 Conflicting classifications of pathogenicity Monogenic diabetes
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA16609249 rs_1057524887

3 SubmittersRCV000445526RCV002509070RCV002488989

NM_006005.3(WFS1):c.647C>G (p.Pro216Arg) SNV
Germline
Chr4:6291932 Conflicting classifications of pathogenicity Monogenic diabetes
not specified
Condition: not provided
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2838986 rs_141233896

7 SubmittersRCV000445466RCV000518948RCV000766821RCV002509072RCV005033961

NM_006005.3(WFS1):c.1265C>T (p.Ala422Val) SNV
Germline
Chr4:6301060 Conflicting classifications of pathogenicity Monogenic diabetes
not specified
WFS1-Related Spectrum Disorders
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
WFS1-related disorder
Wolfram-like syndrome
Cataract 41
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Criteria Provided
Conflicting Classifications
CA2839291 rs_150368988

12 SubmittersRCV000445460RCV000825498RCV001157340RCV000993556RCV001157339RCV002509384RCV004737491RCV005033962

NM_006005.3(WFS1):c.1896G>T (p.Met632Ile) SNV
Germline
Chr4:6301691 Conflicting classifications of pathogenicity Monogenic diabetes
Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA16609253 rs_1057524890

3 SubmittersRCV000445427RCV001851112RCV003128192

NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys) SNV
Germline
Chr4:6301848 Conflicting classifications of pathogenicity Monogenic diabetes
Condition: not provided
Wolfram syndrome 1
Meniere disease
Optic atrophy
WFS1-related disorder
Autosomal dominant nonsyndromic hearing loss 6
Wolfram-like syndrome
Cataract 41
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Criteria Provided
Conflicting Classifications
CA2839583 rs_112967046

10 SubmittersRCV000445499RCV001351930RCV002250628RCV004567928RCV004816668RCV004529580RCV004668975RCV005033963

NM_006005.3(WFS1):c.605A>G (p.Glu202Gly) SNV
Germline
Chr4:6291341 Pathogenic/Likely pathogenic Condition: not provided
Wolfram syndrome 1
Optic atrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA16618051 rs_1064794257

5 SubmittersRCV000486801RCV002469171RCV004816689

NM_006005.3(WFS1):c.1673G>A (p.Arg558His) SNV
Germline
Chr4:6301468 Pathogenic/Likely pathogenic Condition: not provided
Inborn genetic diseases
Wolfram syndrome 1
WFS1-related disorder
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Optic atrophy
Cataract 41
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA2839440 rs_774265764

9 SubmittersRCV000489883RCV004678726RCV004772936RCV004527597RCV004698343RCV004816720RCV002489199RCV004017644

NM_006005.3(WFS1):c.2027G>A (p.Arg676His) SNV
Germline
Chr4:6301822 Conflicting classifications of pathogenicity Condition: not provided
Wolfram syndrome 1
Type 2 diabetes mellitus
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Cataract 41
Criteria Provided
Conflicting Classifications
CA2839577 rs_143055296

4 SubmittersRCV000490173RCV005034027

NM_006005.3(WFS1):c.2061G>C (p.Gln687His) SNV
Germline
Chr4:6301856 Conflicting classifications of pathogenicity Condition: not provided
Wolfram syndrome 1
Type 2 diabetes mellitus
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Cataract 41
Criteria Provided
Conflicting Classifications
CA2839587 rs_760938537

3 SubmittersRCV000490103RCV005034030

NM_006005.3(WFS1):c.1082C>T (p.Thr361Ile) SNV
Germline
Chr4:6300877 Pathogenic/Likely pathogenic Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Wolfram-like syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA2839213 rs_781575919

3 SubmittersRCV000493450RCV005034035

NM_006005.3(WFS1):c.1607T>A (p.Val536Glu) SNV
Germline
Chr4:6301402 Conflicting classifications of pathogenicity Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA356176227 rs_1553878625

3 SubmittersRCV000498432RCV003126759

NM_006005.3(WFS1):c.2189G>A (p.Trp730Ter) SNV
Germline
Chr4:6301984 Pathogenic/Likely pathogenic Condition: not provided
Wolfram syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA2839638 rs_760171298

3 SubmittersRCV000498226RCV003126758

NM_006005.3(WFS1):c.966C>T (p.His322=) SNV
Germline
Chr4:6300761 Conflicting classifications of pathogenicity not specified
Condition: not provided
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
WFS1-related disorder
Criteria Provided
Conflicting Classifications
CA2839172 rs_140196582

6 SubmittersRCV000499529RCV000951748RCV001155563RCV002509076RCV001155564RCV004535626

NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) SNV
Germline
Chr4:6302449 Pathogenic/Likely pathogenic Wolfram syndrome
Wolfram-like syndrome
Wolfram syndrome 1
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Criteria Provided
Multiple Submitters
No Conflicts
CA2839823 rs_372855769

7 SubmittersRCV000503566RCV001849390RCV002506232RCV003233655RCV001857186RCV003335435

NM_006005.3(WFS1):c.2540G>A (p.Cys847Tyr) SNV
Germline
Chr4:6302335 Conflicting classifications of pathogenicity Autistic behavior
Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA356179170 rs_1394576939

4 SubmittersRCV000500223RCV000519327RCV003147488

NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly) SNV
Germline
Chr4:6301519 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Wolfram-like syndrome
Cataract 41
Criteria Provided
Conflicting Classifications
CA2839458 rs_71524360

4 SubmittersRCV000506948RCV000765784

NM_006005.3(WFS1):c.1467C>G (p.Ile489Met) SNV
Germline
Chr4:6301262 Conflicting classifications of pathogenicity Condition: not provided
Type 2 diabetes mellitus
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2839365 rs_768029820

5 SubmittersRCV000520862RCV001198043RCV005034069RCV003126789

NM_006005.3(WFS1):c.2149G>A (p.Glu717Lys) SNV
Germline
Chr4:6301944 Conflicting classifications of pathogenicity Condition: not provided
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41
Criteria Provided
Conflicting Classifications
CA2839622 rs_71532863

4 SubmittersRCV000518926RCV002490902

NM_006005.3(WFS1):c.2600G>A (p.Trp867Ter) SNV
Germline
Chr4:6302395 Pathogenic/Likely pathogenic Condition: not provided
Wolfram syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA356179417 rs_1553879087

2 SubmittersRCV000518978RCV003147503

NM_006005.3(WFS1):c.1536C>T (p.Leu512=) SNV
Germline
Chr4:6301331 Conflicting classifications of pathogenicity Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA438368488 rs_199728640

2 SubmittersRCV000596732RCV003126840

NM_006005.3(WFS1):c.726C>T (p.Ile242=) SNV
Germline
Chr4:6295054 Conflicting classifications of pathogenicity Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2839039 rs_71524381

6 SubmittersRCV000727378RCV002509460

NM_006005.3(WFS1):c.436C>T (p.Arg146Cys) SNV
Germline
Chr4:6289107 Conflicting classifications of pathogenicity not specified
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA356171734 rs_1553876694

2 SubmittersRCV000612852RCV002509085

NM_006005.3(WFS1):c.754A>G (p.Lys252Glu) SNV
Germline
Chr4:6295082 Conflicting classifications of pathogenicity not specified
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA356172467 rs_1553877330

2 SubmittersRCV000612590RCV002509466

NM_006005.3(WFS1):c.792C>G (p.Phe264Leu) SNV
Germline
Chr4:6295120 Conflicting classifications of pathogenicity not specified
Wolfram syndrome 1
WFS1-related disorder
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Wolfram-like syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2839056 rs_373669861

7 SubmittersRCV000612750RCV002509080RCV004530733RCV005034186RCV002532737

NM_006005.3(WFS1):c.1468A>G (p.Thr490Ala) SNV
Germline
Chr4:6301263 Conflicting classifications of pathogenicity Wolfram syndrome 1
not specified
Criteria Provided
Conflicting Classifications
CA356175084 rs_1553878548

2 SubmittersRCV003126843RCV000614284

NM_006005.3(WFS1):c.2516T>C (p.Val839Ala) SNV
Germline
Chr4:6302311 Conflicting classifications of pathogenicity not specified
Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2839760 rs_761114952

4 SubmittersRCV000606633RCV002529322RCV003147519

NM_006005.3(WFS1):c.125G>A (p.Arg42Gln) SNV
Germline
Chr4:6277580 Conflicting classifications of pathogenicity not specified
Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2838801 rs_750806151

4 SubmittersRCV000599723RCV001860339RCV003126870

NM_006005.3(WFS1):c.1706C>T (p.Ala569Val) SNV
Germline
Chr4:6301501 Conflicting classifications of pathogenicity not specified
Condition: not provided
Inborn genetic diseases
Wolfram syndrome 1
WFS1-related disorder
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2839455 rs_144492050

7 SubmittersRCV000615776RCV001366053RCV002532738RCV003126842RCV004737882RCV005034188

NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn) SNV
Germline
Chr4:6302184 Conflicting classifications of pathogenicity Rare genetic deafness
Condition: not provided
WFS1-related disorder
Autosomal dominant nonsyndromic hearing loss
Optic atrophy
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA356178487 rs_1553879004

11 SubmittersRCV000616575RCV001092549RCV004533263RCV004794421RCV004817822RCV003148806

NM_006005.3(WFS1):c.2430C>G (p.Phe810Leu) SNV
Germline
Chr4:6302225 Conflicting classifications of pathogenicity not specified
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA356178567 rs_1553879021

2 SubmittersRCV000615392RCV003128249

NM_006005.3(WFS1):c.-4C>T SNV
Germline
Chr4:6277452 Conflicting classifications of pathogenicity Wolfram syndrome 1
not specified
Criteria Provided
Conflicting Classifications
CA2838775 rs_746340627

2 SubmittersRCV002472311RCV000608618

NM_006005.3(WFS1):c.985T>A (p.Phe329Ile) SNV
Germline
Chr4:6300780 Conflicting classifications of pathogenicity not specified
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41
Criteria Provided
Conflicting Classifications
CA2839181 rs_188848517

5 SubmittersRCV000609447RCV001155565RCV001155566RCV001558737RCV005034187

NM_006005.3(WFS1):c.1769C>T (p.Thr590Met) SNV
Germline
Chr4:6301564 Conflicting classifications of pathogenicity Condition: not provided
Wolfram syndrome 1
not specified
Criteria Provided
Conflicting Classifications
CA2839483 rs_760280308

3 SubmittersRCV002529336RCV003126844RCV000608372

NM_006005.3(WFS1):c.1656C>T (p.Thr552=) SNV
Germline
Chr4:6301451 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2839431 rs_141477172

5 SubmittersRCV001151988RCV001151989RCV001718966RCV003126866

NM_006005.3(WFS1):c.345C>T (p.Gly115=) SNV
Germline
Chr4:6289016 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2838869 rs_200385504

4 SubmittersRCV001155339RCV001155340RCV001722603RCV002509081

NM_006005.3(WFS1):c.2208C>T (p.Gly736=) SNV
Germline
Chr4:6302003 Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Condition: not provided
Wolfram syndrome 1
WFS1-related disorder
Criteria Provided
Conflicting Classifications
CA2839645 rs_141020933

6 SubmittersRCV001153484RCV001153485RCV001704817RCV003126869RCV004544798

NM_006005.3(WFS1):c.330C>A (p.Tyr110Ter) SNV
Germline
Chr4:6289001 Pathogenic Type 2 diabetes mellitus
Wolfram syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA356171265 rs_1553876668

2 SubmittersRCV000626276RCV002509088

NM_006005.3(WFS1):c.1181A>T (p.Glu394Val) SNV
Germline
Chr4:6300976 Conflicting classifications of pathogenicity Condition: not provided
Spastic ataxia
WFS1-related disorder
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Wolfram-like syndrome
Criteria Provided
Conflicting Classifications
CA2839247 rs_146563951

6 SubmittersRCV000657864RCV001644744RCV004737937RCV005027770

NM_006005.3(WFS1):c.977C>T (p.Ala326Val) SNV
Germline
Chr4:6300772 Conflicting classifications of pathogenicity Condition: not provided
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2839178 rs_369795224

7 SubmittersRCV000727902RCV004788150RCV005036043

NM_006005.3(WFS1):c.154C>A (p.Pro52Thr) SNV
Germline
Chr4:6277609 Conflicting classifications of pathogenicity Condition: not provided
Wolfram syndrome 1
Wolfram-like syndrome
Wolfram syndrome 1
Type 2 diabetes mellitus
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Criteria Provided
Conflicting Classifications
CA2838807 rs_111773340

7 SubmittersRCV000729050RCV002509089RCV005036054

NM_006005.3(WFS1):c.2201T>A (p.Leu734His) SNV
Germline
Chr4:6301996 Conflicting classifications of pathogenicity Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA356178091 rs_1409267086

2 SubmittersRCV000729131RCV003126923

NM_006005.3(WFS1):c.498C>G (p.Leu166=) SNV
Germline
Chr4:6291234 Conflicting classifications of pathogenicity Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2838921 rs_758731318

3 SubmittersRCV000730089RCV002509090

NM_006005.3(WFS1):c.1149C>T (p.Arg383=) SNV
Germline
Chr4:6300944 Conflicting classifications of pathogenicity Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA438368115 rs_1560418384

2 SubmittersRCV000730231RCV002509091

NM_001008388.5(CISD2):c.103+1G>A SNV
Germline
Chr4:102869188 Pathogenic Wolfram syndrome 2 No Assertion Criteria Provided
CA357760380 rs_1578307302

1 SubmittersRCV000790904

NM_006005.3(WFS1):c.1695C>T (p.Leu565=) SNV
Germline
Chr4:6301490 Conflicting classifications of pathogenicity Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2839450 rs_755736687

3 SubmittersRCV000951873RCV003127555

NM_006005.3(WFS1):c.772G>A (p.Val258Ile) SNV
Germline
Chr4:6295100 Conflicting classifications of pathogenicity Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2839047 rs_757414862

3 SubmittersRCV000908039RCV002509110

NM_006005.3(WFS1):c.1263C>T (p.Ile421=) SNV
Germline
Chr4:6301058 Conflicting classifications of pathogenicity Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
WFS1-Related Spectrum Disorders
Criteria Provided
Conflicting Classifications
CA2839288 rs_748103155

4 SubmittersRCV002509582RCV001155664RCV000939866RCV001155665

NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter) SNV
Germline
Chr4:6301802 Pathogenic/Likely pathogenic Wolfram syndrome 1
WFS1-Related Spectrum Disorders
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1
Condition: not provided
See cases
Criteria Provided
Multiple Submitters
No Conflicts
CA356177277 rs_1443751733

6 SubmittersRCV000987412RCV002221595RCV002479153RCV001858665RCV002252279

NM_006005.3(WFS1):c.529C>T (p.Arg177Cys) SNV
Germline
Chr4:6291265 Conflicting classifications of pathogenicity Condition: not provided
WFS1-related disorder
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA91794574 rs_760631912

5 SubmittersRCV000998213RCV004738111RCV002509116

NM_006005.3(WFS1):c.861+2T>C SNV
Germline
Chr4:6295191 Pathogenic Condition: not provided
Wolfram syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA356172692 rs_1730600472

2 SubmittersRCV001092545RCV004527413

NM_006005.3(WFS1):c.-148G>T SNV
Germline
Chr4:6269872 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA91777900 rs_542977017

2 SubmittersRCV001155155RCV001155156RCV002465835

NM_006005.3(WFS1):c.-127A>G SNV
Germline
Chr4:6269893 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA91777976 rs_542116747

2 SubmittersRCV001156812RCV001156813RCV002465836

NM_006005.3(WFS1):c.-93G>C SNV
Germline
Chr4:6269927 Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA1139658433 rs_1729749153

2 SubmittersRCV001151387RCV001151388RCV002465833

NM_006005.3(WFS1):c.-43G>C SNV
Germline
Chr4:6269977 Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA1139658434 rs_1578579501

3 SubmittersRCV001151390RCV001882467RCV001151389RCV002465834

NM_006005.3(WFS1):c.232G>A (p.Gly78Arg) SNV
Germline
Chr4:6277687 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
not specified
Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA91787597 rs_777964510

5 SubmittersRCV001151499RCV001151500RCV004587052RCV001882469RCV003127651

NM_006005.3(WFS1):c.445T>C (p.Leu149=) SNV
Germline
Chr4:6289116 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA438210874 rs_1730394064

2 SubmittersRCV001157027RCV001157026RCV002509120

NM_006005.3(WFS1):c.504C>T (p.Ser168=) SNV
Germline
Chr4:6291240 Conflicting classifications of pathogenicity Condition: not provided
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Criteria Provided
Conflicting Classifications
CA2838922 rs_71537675

4 SubmittersRCV001502896RCV002509119RCV001154625RCV001154626

NM_006005.3(WFS1):c.695G>A (p.Arg232His) SNV
Germline
Chr4:6291980 Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Condition: not provided
Wolfram syndrome 1
not specified
Criteria Provided
Conflicting Classifications
CA2838997 rs_375904080

5 SubmittersRCV001157137RCV001157138RCV002032453RCV002509121RCV005438058

NM_006005.3(WFS1):c.804C>T (p.Asp268=) SNV
Germline
Chr4:6295132 Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2839063 rs_199741678

4 SubmittersRCV001157142RCV001157141RCV001759913RCV002509122

NM_006005.3(WFS1):c.1509C>T (p.Val503=) SNV
Germline
Chr4:6301304 Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA438368402 rs_1267751619

2 SubmittersRCV001155753RCV001157456RCV003127663

NM_006005.3(WFS1):c.1580C>T (p.Thr527Ile) SNV
Germline
Chr4:6301375 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1
WFS1-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2839408 rs_372663248

6 SubmittersRCV001157461RCV001157460RCV002070938RCV003127668RCV005029732RCV004528398RCV004032829

NM_006005.3(WFS1):c.1986C>T (p.Ser662=) SNV
Germline
Chr4:6301781 Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA91796740 rs_1055393876

2 SubmittersRCV001153355RCV001153356RCV003127656

NM_006005.3(WFS1):c.2011G>T (p.Ala671Ser) SNV
Germline
Chr4:6301806 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2839572 rs_763020615

4 SubmittersRCV001153359RCV001153360RCV001560362RCV003127657

NM_006005.3(WFS1):c.2246C>T (p.Thr749Met) SNV
Germline
Chr4:6302041 Conflicting classifications of pathogenicity not specified
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41
Wolfram syndrome 1
Condition: not provided
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2839658 rs_199769524

6 SubmittersRCV005419012RCV001156083RCV001156084RCV002491451RCV002558354RCV003127665

NM_006005.3(WFS1):c.2514T>C (p.Pro838=) SNV
Germline
Chr4:6302309 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
WFS1-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2839758 rs_773643250

4 SubmittersRCV001152405RCV001152404RCV003147593RCV004738168RCV002558325

NM_006005.3(WFS1):c.2664G>A (p.Ser888=) SNV
Germline
Chr4:6302459 Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram syndrome 1
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41
not specified
Criteria Provided
Conflicting Classifications
CA2839825 rs_756116434

6 SubmittersRCV001156286RCV002032442RCV003128314RCV001156287RCV002483899RCV005437007

NM_006005.3(WFS1):c.*11C>G SNV
Germline
Chr4:6302479 Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA91797957 rs_919707549

2 SubmittersRCV001157956RCV001157957RCV003128378

NM_006005.3(WFS1):c.*14C>T SNV
Germline
Chr4:6302482 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2839836 rs_775493668

3 SubmittersRCV001157959RCV001157958RCV003128315RCV004720075

NM_006005.3(WFS1):c.*37C>A SNV
Germline
Chr4:6302505 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA549708064 rs_1312854010

2 SubmittersRCV001157961RCV001157960RCV003128379

NM_006005.3(WFS1):c.*158G>A SNV
Germline
Chr4:6302626 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA91798153 rs_548892128

2 SubmittersRCV001156396RCV001156397RCV003127666

NM_006005.3(WFS1):c.*223C>G SNV
Germline
Chr4:6302691 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA91798187 rs_905909594

2 SubmittersRCV001156398RCV001158066RCV003127667

NM_006005.3(WFS1):c.*260G>C SNV
Germline
Chr4:6302728 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA91798210 rs_71530909

2 SubmittersRCV001152598RCV001152597RCV003127653

NM_006005.3(WFS1):c.*300A>G SNV
Germline
Chr4:6302768 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA91798237 rs_541125786

2 SubmittersRCV001153880RCV001153881RCV003127658

NM_006005.3(WFS1):c.*448A>T SNV
Germline
Chr4:6302916 Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA91798312 rs_113513950

2 SubmittersRCV001153884RCV001154727RCV003127660

NM_006005.3(WFS1):c.*455A>G SNV
Germline
Chr4:6302923 Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA91798322 rs_756674774

2 SubmittersRCV001154729RCV001154728RCV003127662

NM_006005.3(WFS1):c.*656C>T SNV
Germline
Chr4:6303124 Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA91798498 rs_772538455

2 SubmittersRCV001153981RCV001153982RCV003127661

NM_006005.3(WFS1):c.817G>T (p.Glu273Ter) SNV
Germline
Chr4:6295145 Pathogenic Diabetes mellitus
Cataract 41
Wolfram syndrome 1
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Condition: not provided
WFS1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA2839068 rs_142428158

4 SubmittersRCV001175321RCV002497609RCV001875777RCV004738178

NM_006005.3(WFS1):c.1620G>A (p.Trp540Ter) SNV
Germline
Chr4:6301415 Pathogenic Wolfram syndrome 1 Criteria Provided
Multiple Submitters
No Conflicts
CA91796398 rs_1038816435

2 SubmittersRCV001195287

NM_006005.3(WFS1):c.2405T>C (p.Ile802Thr) SNV
Germline
Chr4:6302200 Conflicting classifications of pathogenicity Wolfram-like syndrome
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA356178521 rs_1730963697

2 SubmittersRCV001253644RCV003148959

NM_006005.3(WFS1):c.320G>A (p.Gly107Glu) SNV
Unknown
Chr4:6288991 Likely pathogenic Wolfram syndrome 1 Criteria Provided
Single Submitter
CA91794306 rs_71530914

1 SubmittersRCV001262572

NM_006005.3(WFS1):c.412C>T (p.Arg138Cys) SNV
Germline
Chr4:6289083 Conflicting classifications of pathogenicity Condition: not provided
WFS1-related disorder
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2838886 rs_780394696

5 SubmittersRCV001296231RCV004738232RCV002509124

NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter) SNV
Germline
Chr4:6300891 Pathogenic/Likely pathogenic Condition: not provided
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA2839217 rs_761320763

5 SubmittersRCV001310826RCV002499595

NM_006005.3(WFS1):c.1291G>C (p.Glu431Gln) SNV
Unknown
Chr4:6301086 Likely pathogenic Wolfram syndrome 1 Criteria Provided
Single Submitter
CA356174621 rs_2109125661

1 SubmittersRCV001647212

NM_006005.3(WFS1):c.1523A>G (p.Tyr508Cys) SNV
Germline
Chr4:6301318 Conflicting classifications of pathogenicity Wolfram syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA356175816 rs_1477371498

3 SubmittersRCV001647213RCV001859246

NM_006005.3(WFS1):c.2663C>A (p.Ser888Ter) SNV
Germline
Chr4:6302458 Conflicting classifications of pathogenicity Wolfram syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA356179808 rs_547089139

2 SubmittersRCV001730050RCV004040016

NM_006005.3(WFS1):c.1623T>G (p.Cys541Trp) SNV
Germline
Chr4:6301418 Conflicting classifications of pathogenicity Condition: not provided
Wolfram syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2839422 rs_745712429

3 SubmittersRCV001350530RCV003127829RCV003284244

NM_006005.3(WFS1):c.2432A>G (p.Lys811Arg) SNV
Germline
Chr4:6302227 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Wolfram-like syndrome
Cataract 41
Type 2 diabetes mellitus
Criteria Provided
Conflicting Classifications
CA2839734 rs_557048986

4 SubmittersRCV001504964RCV003346586RCV005038242

NM_006005.3(WFS1):c.1148G>A (p.Arg383His) SNV
Germline
Chr4:6300943 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Wolfram-like syndrome
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2839237 rs_369450642

7 SubmittersRCV001519101RCV002501816RCV004789643

NM_006005.3(WFS1):c.76C>T (p.Arg26Ter) SNV
Germline
Chr4:6277531 Pathogenic Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Wolfram-like syndrome
Cataract 41
Wolfram syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA2838791 rs_747658523

3 SubmittersRCV001535831RCV004690112

NM_006005.3(WFS1):c.1956C>G (p.Tyr652Ter) SNV
Germline
Chr4:6301751 Pathogenic Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Wolfram-like syndrome
Cataract 41
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA356177173 rs_772357412

2 SubmittersRCV001535945RCV003708603

NM_006005.3(WFS1):c.1309G>C (p.Gly437Arg) SNV
Germline
Chr4:6301104 Pathogenic/Likely pathogenic Condition: not provided
Wolfram syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA2839306 rs_147974629

2 SubmittersRCV001564069RCV004785280

NM_006005.3(WFS1):c.1949A>G (p.Tyr650Cys) SNV
Germline
Chr4:6301744 Conflicting classifications of pathogenicity Condition: not provided
Wolfram syndrome 1
Wolfram-like syndrome
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Criteria Provided
Conflicting Classifications
CA2839556 rs_765322804

3 SubmittersRCV001592475RCV002477860

NM_006005.3(WFS1):c.387G>A (p.Trp129Ter) SNV
Germline
Chr4:6289058 Pathogenic/Likely pathogenic Wolfram syndrome 1
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41
Type 2 diabetes mellitus
Criteria Provided
Multiple Submitters
No Conflicts
CA2838879 rs_764993824

3 SubmittersRCV001667855RCV005094881RCV002496000

NM_006005.3(WFS1):c.1961C>G (p.Ser654Ter) SNV
Germline
Chr4:6301756 Pathogenic Wolfram syndrome 1 Criteria Provided
Single Submitter
CA356177180 rs_1189512943

1 SubmittersRCV001667856

NM_006005.3(WFS1):c.2197T>G (p.Cys733Gly) SNV
Germline
Chr4:6301992 Likely pathogenic Wolfram syndrome 1 Criteria Provided
Single Submitter
CA356178081 rs_2109127192

1 SubmittersRCV001667857

NM_006005.3(WFS1):c.2107C>T (p.Arg703Cys) SNV
Germline
Chr4:6301902 Conflicting classifications of pathogenicity Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2839602 rs_201888856

6 SubmittersRCV001730049RCV005038283RCV005520557RCV002538697

NM_006005.3(WFS1):c.1088A>C (p.Lys363Thr) SNV
Germline
Chr4:6300883 Likely pathogenic Wolfram syndrome 1 No Assertion Criteria Provided
CA356174225 rs_1386447227

1 SubmittersRCV001789842

NM_006005.3(WFS1):c.2206G>A (p.Gly736Ser) SNV
Germline
Chr4:6302001 Pathogenic/Likely pathogenic Condition: not provided
Wolfram-like syndrome
Wolfram syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA2839644 rs_71532864

5 SubmittersRCV001797328RCV005603733RCV003321872

NM_006005.3(WFS1):c.397G>A (p.Ala133Thr) SNV
Germline
Chr4:6289068 Conflicting classifications of pathogenicity Wolfram syndrome 1
Condition: not provided
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Type 2 diabetes mellitus
Wolfram-like syndrome
Criteria Provided
Conflicting Classifications
CA91794311 rs_372249044

5 SubmittersRCV001806811RCV001814605RCV005038334

NM_006005.3(WFS1):c.1180G>T (p.Glu394Ter) SNV
Germline
Chr4:6300975 Pathogenic Wolfram syndrome 1 Criteria Provided
Single Submitter
CA356174408 rs_373146435

1 SubmittersRCV001805739

NM_006005.3(WFS1):c.1549C>T (p.Arg517Cys) SNV
Germline
Chr4:6301344 Conflicting classifications of pathogenicity Condition: not provided
Wolfram syndrome 1
Wolfram-like syndrome
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Criteria Provided
Conflicting Classifications
CA2839398 rs_371911218

3 SubmittersRCV001902943RCV002503521RCV004698355

NM_006005.3(WFS1):c.472G>A (p.Glu158Lys) SNV
Germline
Chr4:6291208 Conflicting classifications of pathogenicity Condition: not provided
not specified
Wolfram syndrome 1
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2838915 rs_567563179

4 SubmittersRCV001899046RCV002246586RCV005038478RCV005253930

NM_006005.3(WFS1):c.1082C>G (p.Thr361Ser) SNV
Germline
Chr4:6300877 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA356174217 rs_781575919

2 SubmittersRCV002003819RCV005025594

NM_006005.3(WFS1):c.2365G>A (p.Gly789Ser) SNV
Germline
Chr4:6302160 Conflicting classifications of pathogenicity Condition: not provided
Wolfram-like syndrome
Inborn genetic diseases
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Wolfram-like syndrome
Criteria Provided
Conflicting Classifications
CA2839702 rs_376974936

5 SubmittersRCV001910518RCV005051933RCV002557824RCV005031892

NM_006005.3(WFS1):c.2205C>G (p.Tyr735Ter) SNV
Germline
Chr4:6302000 Pathogenic Wolfram syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA356178109 rs_71530911

2 SubmittersRCV003323960RCV001994853

NM_006005.3(WFS1):c.1619G>A (p.Trp540Ter) SNV
Germline
Chr4:6301414 Pathogenic/Likely pathogenic Condition: not provided
Cataract 41
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356176298 rs_1335076773

2 SubmittersRCV001951122RCV002497881

NM_006005.3(WFS1):c.1558C>T (p.Gln520Ter) SNV
Germline
Chr4:6301353 Pathogenic Cataract 41
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA356175948 rs_377544135

2 SubmittersRCV002507701RCV001970045

NM_006005.3(WFS1):c.712+1G>T SNV
Germline
Chr4:6291998 Pathogenic/Likely pathogenic Condition: not provided
Wolfram syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA356172366 rs_1281745640

2 SubmittersRCV001990256RCV002509127

NM_006005.3(WFS1):c.1433G>A (p.Trp478Ter) SNV
Germline
Chr4:6301228 Pathogenic/Likely pathogenic Wolfram syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA2839348 rs_377726402

3 SubmittersRCV002052070RCV002552343

NM_006005.3(WFS1):c.1506C>T (p.Ser502=) SNV
Germline
Chr4:6301301 Conflicting classifications of pathogenicity Condition: not provided
WFS1-related disorder
Cataract 41
Wolfram syndrome 1
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Criteria Provided
Conflicting Classifications
CA2839382 rs_773684789

3 SubmittersRCV002140732RCV004543892RCV005025714

NM_006005.3(WFS1):c.2612T>G (p.Val871Gly) SNV
Germline
Chr4:6302407 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2839804 rs_764211494

4 SubmittersRCV002219519RCV004584952RCV005397306

NM_006005.3(WFS1):c.444C>T (p.Cys148=) SNV
Germline
Chr4:6289115 Conflicting classifications of pathogenicity Condition: not provided
Wolfram-like syndrome
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA91794319 rs_998539254

3 SubmittersRCV002180938RCV002494512

NM_006005.3(WFS1):c.818A>C (p.Glu273Ala) SNV
Germline
Chr4:6295146 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Wolfram-like syndrome
Criteria Provided
Conflicting Classifications
CA2839069 rs_546948362

3 SubmittersRCV002075957RCV003033334RCV004796710

NM_006005.3(WFS1):c.1943G>A (p.Trp648Ter) SNV
Germline
Chr4:6301738 Pathogenic/Likely pathogenic Wolfram syndrome 1
Optic atrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA2839553 rs_150465110

4 SubmittersRCV002267791RCV004816997RCV005095953

NM_006005.3(WFS1):c.1991T>G (p.Leu664Arg) SNV
Germline
Chr4:6301786 Conflicting classifications of pathogenicity Wolfram syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA356177244 rs_2474195528

2 SubmittersRCV002283617RCV003096372

NM_006005.3(WFS1):c.1917G>A (p.Trp639Ter) SNV
Unknown
Chr4:6301712 Likely pathogenic Wolfram syndrome 1 Criteria Provided
Single Submitter
CA356177099 rs_2474195328

1 SubmittersRCV002286558

NM_006005.3(WFS1):c.1112G>A (p.Trp371Ter) SNV
Germline
Chr4:6300907 Pathogenic Wolfram syndrome 1 Criteria Provided
Single Submitter
CA356174279 rs_1730863609

1 SubmittersRCV002289346

NM_006005.3(WFS1):c.115G>T (p.Glu39Ter) SNV
Unknown
Chr4:6277570 Likely pathogenic Wolfram syndrome 1 Criteria Provided
Single Submitter
CA2838799 rs_774330485

1 SubmittersRCV002509132

NM_006005.3(WFS1):c.615C>T (p.Gly205=) SNV
Germline
Chr4:6291351 Conflicting classifications of pathogenicity Wolfram syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA91794581 rs_954971844

3 SubmittersRCV002509136RCV002571569

NM_006005.3(WFS1):c.1099G>T (p.Asp367Tyr) SNV
Germline
Chr4:6300894 Conflicting classifications of pathogenicity Wolfram syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA356174253 rs_886059528

2 SubmittersRCV002509844RCV003689020

NM_006005.3(WFS1):c.873C>T (p.Tyr291=) SNV
Germline
Chr4:6300668 Conflicting classifications of pathogenicity Wolfram syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2839133 rs_777580652

2 SubmittersRCV002509847RCV002574722

NM_006005.3(WFS1):c.1359C>T (p.Pro453=) SNV
Germline
Chr4:6301154 Conflicting classifications of pathogenicity Condition: not provided
WFS1-related disorder
Autosomal dominant nonsyndromic hearing loss 6
Cataract 41
Wolfram-like syndrome
Type 2 diabetes mellitus
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA2839319 rs_781138096

3 SubmittersRCV003073183RCV004540544RCV005028216

NM_006005.3(WFS1):c.559C>T (p.Leu187Phe) SNV
Germline
Chr4:6291295 Pathogenic/Likely pathogenic Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Wolfram-like syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA356172033 rs_1730456165

2 SubmittersRCV002647198RCV005034785

NM_006005.3(WFS1):c.1628T>G (p.Leu543Arg) SNV
Germline
Chr4:6301423 Pathogenic/Likely pathogenic Condition: not provided
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA356176348 rs_1309408215

2 SubmittersRCV002651811RCV005045372

NM_006005.3(WFS1):c.643C>T (p.Gln215Ter) SNV
Germline
Chr4:6291928 Pathogenic/Likely pathogenic Condition: not provided
Wolfram-like syndrome
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA2838985 rs_71530928

2 SubmittersRCV003112160RCV005036665

NM_006005.3(WFS1):c.1362C>G (p.Tyr454Ter) SNV
Unknown
Chr4:6301157 Pathogenic Wolfram syndrome 1 Criteria Provided
Single Submitter
CA356174760 rs_1043668392

1 SubmittersRCV003126290

NM_006005.3(WFS1):c.1653C>T (p.Ser551=) SNV
Germline
Chr4:6301448 Conflicting classifications of pathogenicity Wolfram syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2839430 rs_766730980

3 SubmittersRCV003126403RCV003883957

NM_006005.3(WFS1):c.1627C>T (p.Leu543Phe) SNV
Germline
Chr4:6301422 Likely pathogenic Wolfram syndrome 1 Criteria Provided
Single Submitter
CA356176343 rs_1310304264

1 SubmittersRCV003223364

NM_006005.3(WFS1):c.1508T>G (p.Val503Gly) SNV
Germline
Chr4:6301303 Conflicting classifications of pathogenicity Condition: not provided
Auditory neuropathy
Wolfram syndrome 1
Cataract 41
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Criteria Provided
Conflicting Classifications
CA2839384 rs_772993007

3 SubmittersRCV003227243RCV003483914RCV005036704

NM_006005.3(WFS1):c.2006A>G (p.Tyr669Cys) SNV
Germline
Chr4:6301801 Likely pathogenic Wolfram syndrome 1 Criteria Provided
Single Submitter
CA356177275 rs_1402999203

1 SubmittersRCV003322585

NM_006005.3(WFS1):c.1838G>A (p.Trp613Ter) SNV
Germline
Chr4:6301633 Pathogenic Wolfram syndrome 1 Criteria Provided
Single Submitter
CA2839515 rs_762467865

1 SubmittersRCV003323276

NM_006005.3(WFS1):c.460+1G>C SNV
Germline
Chr4:6289132 Pathogenic Wolfram syndrome 1 Criteria Provided
Single Submitter
CA356171818 rs_1191510461

1 SubmittersRCV003323321

NM_006005.3(WFS1):c.1676C>A (p.Ala559Asp) SNV
Germline
Chr4:6301471 Likely pathogenic Condition: not provided
Wolfram syndrome 1
Criteria Provided
Single Submitter
CA356176485 rs_773343292

2 SubmittersRCV003555141RCV003992778

NM_006005.3(WFS1):c.1014C>A (p.Ile338=) SNV
Germline
Chr4:6300809 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41
Wolfram syndrome 1
Criteria Provided
Conflicting Classifications
CA438367874 rs_748353498

2 SubmittersRCV003727246RCV005030245

NM_006005.3(WFS1):c.2266C>G (p.Arg756Gly) SNV
Germline
Chr4:6302061 Likely pathogenic Wolfram syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004698407

NM_006005.3(WFS1):c.2586G>C (p.Lys862Asn) SNV
Germline
Chr4:6302381 Likely pathogenic Wolfram syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004698408

NM_006005.3(WFS1):c.874C>T (p.Pro292Ser) SNV
Germline
Chr4:6300669 Likely pathogenic Wolfram syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004789989

NM_006005.3(WFS1):c.2062A>T (p.Ile688Phe) SNV
Germline
Chr4:6301857 Likely pathogenic Wolfram syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004821214

NM_006005.3(WFS1):c.1420A>C (p.Met474Leu) SNV
Germline
Chr4:6301215 Conflicting classifications of pathogenicity Wolfram-like syndrome
Cataract 41
Type 2 diabetes mellitus
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005039190RCV005291139

NM_006005.3(WFS1):c.2069G>A (p.Cys690Tyr) SNV
Germline
Chr4:6301864 Likely pathogenic Wolfram-like syndrome
Cataract 41
Type 2 diabetes mellitus
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Criteria Provided
Single Submitter

1 SubmittersRCV005040872

NM_006005.3(WFS1):c.2336T>G (p.Val779Gly) SNV
Germline
Chr4:6302131 Likely pathogenic Wolfram-like syndrome
Cataract 41
Type 2 diabetes mellitus
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Criteria Provided
Single Submitter

1 SubmittersRCV005039222

NM_001008388.5(CISD2):c.109G>T (p.Glu37Ter) SNV
Germline
Chr4:102885221 Likely pathogenic Wolfram syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV005024921

NM_006005.3(WFS1):c.863T>G (p.Val288Gly) SNV
Germline
Chr4:6300658 Likely pathogenic Wolfram syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005233214

NM_006005.3(WFS1):c.2095A>C (p.Thr699Pro) SNV
Germline
Chr4:6301890 Likely pathogenic Wolfram syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005234890

NM_006005.3(WFS1):c.762C>G (p.Tyr254Ter) SNV
Germline
Chr4:6295090 Pathogenic Wolfram syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005253178