WFS1 — 2046 ClinVar variants

All ClinVar germline WFS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1055 flagged for review →

75 Pathogenic · 71 Pathogenic/Likely pathogenic · 85 Likely pathogenic · 259 Conflicting · 93 Benign · 122 Benign/Likely benign · 381 Likely benign · 960 Uncertain significance

Full WFS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1055

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 9

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

WFS1 p.Ala716Thr Pathogenic/Likely pathogenic Multiple submitters
Monogenic hearing loss
WFS1 p.Arg629Trp Pathogenic Multiple submitters
Inborn genetic diseases
WFS1 p.Asp211Asn Pathogenic/Likely pathogenic Multiple submitters
WFS1-related disorder
WFS1 p.Glu202Gly Pathogenic/Likely pathogenic Multiple submitters
optic atrophy
WFS1 p.His313Tyr Pathogenic/Likely pathogenic Multiple submitters
WFS1 p.Arg756Gly Likely pathogenic Single submitter
Wolfram syndrome 1
WFS1 p.Leu543Phe Likely pathogenic Single submitter
Wolfram syndrome 1
WFS1 p.Thr321Pro Likely pathogenic Single submitter
diabetes mellitus
WFS1 p.Glu680Gln Likely pathogenic No assertion criteria
optic atrophy

Predictors agree, ClinVar conflicts 109

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

WFS1 p.Ala133Thr Conflicting Single submitter
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Ala150Val Conflicting Single submitter
type 2 diabetes mellitus
WFS1 p.Ala243Val Conflicting Single submitter
monogenic diabetes
WFS1 p.Ala31Gly Conflicting Single submitter
Inborn genetic diseases
WFS1 p.Ala326Thr Conflicting Single submitter
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Ala342Thr Conflicting Single submitter
WFS1-Related Spectrum Disorders
WFS1 p.Ala422Val Conflicting Single submitter
WFS1-Related Spectrum Disorders
WFS1 p.Ala43Val Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Ala48Val Conflicting Single submitter
Inborn genetic diseases
WFS1 p.Ala575Gly Conflicting Single submitter
cataract 41
WFS1 p.Ala57Ser Conflicting Single submitter
Inborn genetic diseases
WFS1 p.Ala57Thr Conflicting Single submitter
cataract 41
WFS1 p.Ala58Thr Conflicting Single submitter
cataract 41
WFS1 p.Ala58Val Conflicting Single submitter
WFS1 p.Ala598Thr Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Ala671Ser Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Ala787Thr Conflicting Single submitter
WFS1 p.Arg146Cys Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Arg177Cys Conflicting Single submitter
WFS1-related disorder
WFS1 p.Arg228His Conflicting Single submitter
WFS1-Related Spectrum Disorders
WFS1 p.Arg232His Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Arg26Gln Conflicting Single submitter
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Arg383His Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Arg42Gln Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Arg456His Conflicting Single submitter
WFS1-Related Spectrum Disorders
WFS1 p.Arg517Cys Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Arg587Gln Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Arg587Trp Conflicting Single submitter
Inborn genetic diseases
WFS1 p.Arg629Gln Conflicting Single submitter
Rare genetic deafness
WFS1 p.Arg676His Conflicting Single submitter
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Arg685Cys Conflicting Single submitter
cataract 41
WFS1 p.Arg703Cys Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Arg708Cys Conflicting Single submitter
Inborn genetic diseases
WFS1 p.Arg732Cys Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Arg732His Conflicting Single submitter
type 2 diabetes mellitus
WFS1 p.Arg818Cys Conflicting Single submitter
WFS1-Related Spectrum Disorders
WFS1 p.Arg818His Conflicting Single submitter
WFS1-Related Spectrum Disorders
WFS1 p.Asn714Lys Conflicting Single submitter
WFS1 p.Asp267Asn Conflicting Single submitter
cataract 41
WFS1 p.Asp379Asn Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Asp729Asn Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Asp771Tyr Conflicting Single submitter
WFS1 p.Asp866Asn Conflicting Single submitter
monogenic diabetes
WFS1 p.Cys765Arg Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Cys847Tyr Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Glu273Lys Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Glu385Lys Conflicting Single submitter
monogenic diabetes
WFS1 p.Glu593Asp Conflicting Single submitter
Inborn genetic diseases
WFS1 p.Glu794Lys Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Gly437Arg Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Gly553Ser Conflicting Single submitter
Inborn genetic diseases
WFS1 p.Gly576Ser Conflicting Single submitter
monogenic diabetes
WFS1 p.Gly674Arg Conflicting Single submitter
Monogenic hearing loss
WFS1 p.Gly674Trp Conflicting Single submitter
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Gly736Asp Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Gly76Val Conflicting Single submitter
monogenic diabetes
WFS1 p.Gly789Ser Conflicting Single submitter
Inborn genetic diseases
WFS1 p.Gly78Arg Conflicting Single submitter
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Gly820Val Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.His109Tyr Conflicting Single submitter
monogenic diabetes
WFS1 p.His407Tyr Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Ile338Val Conflicting Single submitter
Inborn genetic diseases
WFS1 p.Ile489Met Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Ile561Val Conflicting Single submitter
Inborn genetic diseases
WFS1 p.Ile802Thr Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Leu382Pro Conflicting Single submitter
Wolfram-like syndrome
WFS1 p.Leu445Val Conflicting Single submitter
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Leu499Phe Conflicting Single submitter
monogenic diabetes
WFS1 p.Leu592Val Conflicting Single submitter
WFS1 p.Leu664Arg Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Leu723Pro Conflicting Single submitter
WFS1 p.Leu814Pro Conflicting Single submitter
WFS1-related disorder
WFS1 p.Lys811Arg Conflicting Single submitter
cataract 41
WFS1 p.Met306Thr Conflicting Single submitter
WFS1-Related Spectrum Disorders
WFS1 p.Met474Leu Conflicting Single submitter
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Met518Lys Conflicting Single submitter
optic nerve disorder
WFS1 p.Met657Leu Conflicting Single submitter
WFS1 p.Met731Val Conflicting Single submitter
cataract 41
WFS1 p.Phe264Leu Conflicting Single submitter
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Phe413Val Conflicting Single submitter
Inborn genetic diseases
WFS1 p.Phe775Val Conflicting Single submitter
Inborn genetic diseases
WFS1 p.Pro10Ser Conflicting Single submitter
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Pro19Leu Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Pro216Arg Conflicting Single submitter
cataract 41
WFS1 p.Pro346Leu Conflicting Single submitter
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Pro52Ala Conflicting Single submitter
cataract 41
WFS1 p.Pro52Thr Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Pro533Ser Conflicting Single submitter
WFS1-Related Spectrum Disorders
WFS1 p.Pro724Leu Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Ser430Leu Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Ser469Leu Conflicting Single submitter
WFS1-related disorder
WFS1 p.Ser790Leu Conflicting Single submitter
WFS1 p.Ser790Trp Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Thr461Ile Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Thr490Ala Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Thr527Ile Conflicting Single submitter
Inborn genetic diseases
WFS1 p.Thr590Met Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Thr699Met Conflicting Single submitter
Monogenic hearing loss
WFS1 p.Thr749Met Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Val258Ile Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Val288Met Conflicting Single submitter
Wolfram-like syndrome
WFS1 p.Val498Ile Conflicting Single submitter
Wolfram-like syndrome
WFS1 p.Val503Gly Conflicting Single submitter
type 2 diabetes mellitus
WFS1 p.Val503Ile Conflicting Single submitter
WFS1-Related Spectrum Disorders
WFS1 p.Val601Met Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Val624Ala Conflicting Single submitter
cataract 41
WFS1 p.Val644Leu Conflicting Single submitter
WFS1 p.Val871Met Conflicting Single submitter
monogenic diabetes
WFS1 p.Val875Met Conflicting Single submitter
Wolfram syndrome 1

Predictors lean, ClinVar uncertain 488

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 488

WFS1 p.Ala102Thr Uncertain significance Multiple submitters
Wolfram syndrome 1
WFS1 p.Ala102Val Uncertain significance Multiple submitters
WFS1 p.Ala134Thr Uncertain significance Multiple submitters
hereditary ataxia
WFS1 p.Ala134Val Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Ala198Val Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Ala214Val Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Ala23Val Uncertain significance Multiple submitters
WFS1 p.Ala275Gly Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Ala275Val Uncertain significance Multiple submitters
Wolfram-like syndrome
WFS1 p.Ala295Thr Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Ala406Thr Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Ala422Thr Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Ala460Thr Uncertain significance Multiple submitters
Wolfram syndrome 1
WFS1 p.Ala586Thr Uncertain significance Multiple submitters
type 2 diabetes mellitus
WFS1 p.Ala598Val Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Ala59Asp Uncertain significance Multiple submitters
WFS1 p.Ala59Ser Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Ala59Val Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Ala602Thr Uncertain significance Multiple submitters
WFS1 p.Ala616Pro Uncertain significance Multiple submitters
WFS1 p.Ala616Ser Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Ala61Thr Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Ala677Ser Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Ala6Gly Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Ala738Asp Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Ala738Thr Uncertain significance Multiple submitters
cataract 41
WFS1 p.Ala741Val Uncertain significance Multiple submitters
cataract 41
WFS1 p.Ala74Thr Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Ala750Thr Uncertain significance Multiple submitters
cataract 41
WFS1 p.Ala750Val Uncertain significance Multiple submitters
WFS1 p.Ala97Ser Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Arg138His Uncertain significance Multiple submitters
Wolfram-like syndrome
WFS1 p.Arg139His Uncertain significance Multiple submitters
WFS1 p.Arg146His Uncertain significance Multiple submitters
WFS1-related disorder
WFS1 p.Arg147Gln Uncertain significance Multiple submitters
cataract 41
WFS1 p.Arg147Trp Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Arg161Trp Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Arg24His Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Arg42Gly Uncertain significance Multiple submitters
WFS1 p.Arg42Pro Uncertain significance Multiple submitters
Wolfram syndrome 1
WFS1 p.Arg55Lys Uncertain significance Multiple submitters
WFS1 p.Arg653His Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Arg676Cys Uncertain significance Multiple submitters
Wolfram syndrome 1
WFS1 p.Arg676Pro Uncertain significance Multiple submitters
WFS1 p.Arg71Gln Uncertain significance Multiple submitters
WFS1 p.Arg71Trp Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Arg756Cys Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Arg756His Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Arg791Cys Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Arg791His Uncertain significance Multiple submitters
Wolfram syndrome 1
WFS1 p.Arg793Cys Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Arg832Cys Uncertain significance Multiple submitters
WFS1-related disorder
WFS1 p.Asn208Ser Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Asn477His Uncertain significance Multiple submitters
WFS1 p.Asn721Ser Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Asn746Lys Uncertain significance Multiple submitters
cataract 41
WFS1 p.Asn849Ser Uncertain significance Multiple submitters
Wolfram-like syndrome
WFS1 p.Asp151Asn Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Asp211Gly Uncertain significance Multiple submitters
WFS1 p.Asp268Asn Uncertain significance Multiple submitters
WFS1 p.Asp367Asn Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Asp425Asn Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Asp771Asn Uncertain significance Multiple submitters
type 2 diabetes mellitus
WFS1 p.Asp880Asn Uncertain significance Multiple submitters
Wolfram syndrome 1
WFS1 p.Cys360Arg Uncertain significance Multiple submitters
inherited retinal dystrophy
WFS1 p.Cys847Arg Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Gln392Glu Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Gln520Glu Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Gln819Pro Uncertain significance Multiple submitters
WFS1 p.Glu209Lys Uncertain significance Multiple submitters
WFS1 p.Glu269Asp Uncertain significance Multiple submitters
cataract 41
WFS1 p.Glu550Ala Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Glu593Ala Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Glu593Gln Uncertain significance Multiple submitters
WFS1 p.Glu593Lys Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Glu751Gln Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Glu751Lys Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Glu752Asp Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Glu753Asp Uncertain significance Multiple submitters
Wolfram-like syndrome
WFS1 p.Glu794Gly Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Glu795Asp Uncertain significance Multiple submitters
monogenic diabetes
WFS1 p.Glu795Lys Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Glu85Asp Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Gly115Ser Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Gly205Ser Uncertain significance Multiple submitters
Wolfram syndrome 1
WFS1 p.Gly213Glu Uncertain significance Multiple submitters
cataract 41
WFS1 p.Gly437Cys Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Gly45Arg Uncertain significance Multiple submitters
Wolfram syndrome 1
WFS1 p.Gly466Ser Uncertain significance Multiple submitters
cataract 41
WFS1 p.Gly53Val Uncertain significance Multiple submitters
WFS1 p.Gly553Cys Uncertain significance Multiple submitters
WFS1 p.Gly76Ser Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Gly789Ala Uncertain significance Multiple submitters
WFS1 p.His294Gln Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.His313Gln Uncertain significance Multiple submitters
WFS1 p.His495Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.His860Gln Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.His865Gln Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.His865Tyr Uncertain significance Multiple submitters
WFS1 p.His872Arg Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Ile299Met Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Ile324Val Uncertain significance Multiple submitters
cataract 41
WFS1 p.Ile338Met Uncertain significance Multiple submitters
Wolfram syndrome 1
WFS1 p.Ile349Val Uncertain significance Multiple submitters
type 2 diabetes mellitus
WFS1 p.Ile355Met Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Ile355Val Uncertain significance Multiple submitters
WFS1-related disorder
WFS1 p.Ile643Met Uncertain significance Multiple submitters
Diabetes
WFS1 p.Ile712Val Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Ile828Leu Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Ile863Met Uncertain significance Multiple submitters
WFS1 p.Leu121Ile Uncertain significance Multiple submitters
Wolfram syndrome 1
WFS1 p.Leu121Phe Uncertain significance Multiple submitters
WFS1 p.Leu132Arg Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Leu200Pro Uncertain significance Multiple submitters
WFS1 p.Leu223Met Uncertain significance Multiple submitters
monogenic diabetes
WFS1 p.Leu303Pro Uncertain significance Multiple submitters
WFS1 p.Leu467Val Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Leu496Met Uncertain significance Multiple submitters
WFS1 p.Leu549Met Uncertain significance Multiple submitters
cataract 41
WFS1 p.Leu549Pro Uncertain significance Multiple submitters
cataract 41
WFS1 p.Leu549Val Uncertain significance Multiple submitters
WFS1 p.Leu554Val Uncertain significance Multiple submitters
WFS1 p.Leu573Val Uncertain significance Multiple submitters
Wolfram syndrome 1
WFS1 p.Leu594Phe Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Leu635Val Uncertain significance Multiple submitters
WFS1 p.Leu759Val Uncertain significance Multiple submitters
WFS1 p.Leu848Val Uncertain significance Multiple submitters
WFS1 p.Lys191Arg Uncertain significance Multiple submitters
WFS1 p.Lys221Thr Uncertain significance Multiple submitters
Wolfram-like syndrome
WFS1 p.Lys253Arg Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Lys277Arg Uncertain significance Multiple submitters
Wolfram syndrome 1
WFS1 p.Lys363Arg Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Lys482Gln Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Lys758Arg Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Lys769Asn Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Met297Val Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Met312Val Uncertain significance Multiple submitters
cataract 41
WFS1 p.Met632Thr Uncertain significance Multiple submitters
WFS1 p.Met632Val Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Met722Val Uncertain significance Multiple submitters
Wolfram syndrome 1
WFS1 p.Met731Lys Uncertain significance Multiple submitters
WFS1 p.Met851Arg Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Phe264Ser Uncertain significance Multiple submitters
Wolfram-like syndrome
WFS1 p.Phe397Cys Uncertain significance Multiple submitters
cataract 41
WFS1 p.Phe649Leu Uncertain significance Multiple submitters
Wolfram syndrome 1
WFS1 p.Phe725Leu Uncertain significance Multiple submitters
Wolfram syndrome 1
WFS1 p.Phe783Leu Uncertain significance Multiple submitters
WFS1 p.Phe884Tyr Uncertain significance Multiple submitters
Wolfram syndrome 1
WFS1 p.Pro13Leu Uncertain significance Multiple submitters
WFS1 p.Pro16Leu Uncertain significance Multiple submitters
Wolfram-like syndrome

Predictors split 449

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 449

WFS1 p.Ala255Val Uncertain significance Multiple submitters
WFS1 p.Ala310Pro Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Ala310Val Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Ala326Ser Uncertain significance Multiple submitters
WFS1-related disorder
WFS1 p.Ala458Thr Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Ala519Val Uncertain significance Multiple submitters
cataract 41
WFS1 p.Ala684Val Pathogenic/Likely pathogenic Multiple submitters
WFS1-related disorder
WFS1 p.Ala761Val Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Arg139Cys Uncertain significance Multiple submitters
WFS1 p.Arg228Cys Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Arg285Cys Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Arg375Cys Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Arg375His Uncertain significance Multiple submitters
monogenic diabetes
WFS1 p.Arg375Ser Uncertain significance Multiple submitters
WFS1 p.Arg383Cys Uncertain significance Multiple submitters
type 2 diabetes mellitus
WFS1 p.Arg456Cys Uncertain significance Multiple submitters
WFS1-related disorder
WFS1 p.Arg517His Uncertain significance Multiple submitters
cataract 41
WFS1 p.Arg522Met Uncertain significance Multiple submitters
WFS1-related disorder
WFS1 p.Arg558Cys Pathogenic/Likely pathogenic Multiple submitters
Autosomal dominant and autosomal recessive WFS1-related disorders
WFS1 p.Arg558His Pathogenic/Likely pathogenic Multiple submitters
optic atrophy
WFS1 p.Arg611Cys Uncertain significance Multiple submitters
type 2 diabetes mellitus
WFS1 p.Arg697Gly Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Arg708His Uncertain significance Multiple submitters
Wolfram syndrome 1
WFS1 p.Arg772Cys Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Arg772His Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Arg832His Uncertain significance Multiple submitters
Wolfram syndrome 1
WFS1 p.Arg859Trp Uncertain significance Multiple submitters
WFS1 p.Arg868Cys Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Arg868Pro Uncertain significance Multiple submitters
optic atrophy
WFS1 p.Asn208Thr Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Asp367Glu Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Asp389Glu Uncertain significance Multiple submitters
Wolfram syndrome 1
WFS1 p.Asp713Asn Uncertain significance Multiple submitters
WFS1 p.Asp713Gly Uncertain significance Multiple submitters
WFS1-Related Spectrum Disorders
WFS1 p.Asp801Gly Pathogenic/Likely pathogenic Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Asp866Tyr Uncertain significance Multiple submitters
cataract 41
WFS1 p.Asp880His Uncertain significance Multiple submitters
cataract 41
WFS1 p.Cys360Tyr Uncertain significance Multiple submitters
optic atrophy
WFS1 p.Cys505Gly Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Cys505Ser Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Cys529Arg Uncertain significance Multiple submitters
WFS1 p.Cys537Tyr Uncertain significance Multiple submitters
monogenic diabetes
WFS1 p.Cys541Gly Uncertain significance Multiple submitters
WFS1 p.Cys647Trp Uncertain significance Multiple submitters
WFS1 p.Cys850Gly Uncertain significance Multiple submitters
cataract 41
WFS1 p.Glu140Lys Uncertain significance Multiple submitters
WFS1 p.Glu237Lys Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Glu301Asp Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Glu385Gln Uncertain significance Multiple submitters
Wolfram-like syndrome
WFS1 p.Glu391Lys Uncertain significance Multiple submitters
cataract 41
WFS1 p.Glu394Lys Uncertain significance Multiple submitters
type 2 diabetes mellitus
WFS1 p.Glu462Ala Uncertain significance Multiple submitters
type 2 diabetes mellitus
WFS1 p.Glu694Gln Uncertain significance Multiple submitters
WFS1 p.Glu809Lys Pathogenic Multiple submitters
Wolfram-like syndrome
WFS1 p.Glu864Lys Pathogenic/Likely pathogenic Multiple submitters
WFS1-related disorder
WFS1 p.Gly398Arg Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Gly494Ser Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Gly562Ser Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Gly656Ser Uncertain significance Multiple submitters
WFS1 p.Gly695Asp Likely pathogenic Multiple submitters
WFS1-related disorder
WFS1 p.Gly786Cys Uncertain significance Multiple submitters
WFS1-Related Spectrum Disorders
WFS1 p.Gly820Asp Uncertain significance Multiple submitters
Wolfram syndrome 1
WFS1 p.His294Asp Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.His313Pro Uncertain significance Multiple submitters
WFS1-related disorder
WFS1 p.His323Arg Pathogenic/Likely pathogenic Multiple submitters
optic atrophy
WFS1 p.His407Arg Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.His763Gln Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.His872Pro Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Ile296Thr Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Ile359Asn Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Ile636Thr Uncertain significance Multiple submitters
WFS1-related disorder
WFS1 p.Ile688Thr Uncertain significance Multiple submitters
WFS1-related disorder
WFS1 p.Ile712Thr Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Leu187Phe Pathogenic/Likely pathogenic Multiple submitters
Wolfram-like syndrome
WFS1 p.Leu286Pro Uncertain significance Multiple submitters
WFS1-related disorder
WFS1 p.Leu303Met Uncertain significance Multiple submitters
WFS1 p.Leu327Ile Uncertain significance Multiple submitters
monogenic diabetes
WFS1 p.Leu327Phe Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Leu481Pro Uncertain significance Multiple submitters
cataract 41
WFS1 p.Leu514Phe Uncertain significance Multiple submitters
optic atrophy
WFS1 p.Leu645Pro Uncertain significance Multiple submitters
WFS1 p.Leu754Phe Uncertain significance Multiple submitters
cataract 41
WFS1 p.Leu817Met Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Leu829Pro Pathogenic/Likely pathogenic Multiple submitters
Inborn genetic diseases
WFS1 p.Leu833Arg Uncertain significance Multiple submitters
WFS1 p.Leu833Gln Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Lys186Asn Uncertain significance Multiple submitters
WFS1 p.Lys193Gln Benign/Likely benign Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Lys256Asn Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Lys596Gln Uncertain significance Multiple submitters
WFS1 p.Lys634Arg Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Lys634Gln Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Lys679Gln Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Lys762Asn Uncertain significance Multiple submitters
WFS1 p.Lys836Asn Pathogenic/Likely pathogenic Multiple submitters
WFS1-related disorder
WFS1 p.Lys843Arg Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Met229Thr Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Met518Val Uncertain significance Multiple submitters
WFS1 p.Met657Thr Uncertain significance Multiple submitters
WFS1 p.Met683Arg Uncertain significance Multiple submitters
WFS1 p.Met722Thr Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Met781Ile Uncertain significance Multiple submitters
WFS1 p.Phe350Leu Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Phe515Ser Uncertain significance Multiple submitters
WFS1 p.Phe568Ser Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Pro420Ser Uncertain significance Multiple submitters
WFS1 p.Pro504Thr Uncertain significance Multiple submitters
Wolfram syndrome 1
WFS1 p.Pro607Ala Uncertain significance Multiple submitters
cataract 41
WFS1 p.Pro782Thr Uncertain significance Multiple submitters
WFS1 p.Pro838Leu Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Ser334Arg Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Ser411Phe Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Ser418Cys Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Ser443Arg Pathogenic/Likely pathogenic Multiple submitters
WFS1 p.Ser446Asn Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Ser626Phe Uncertain significance Multiple submitters
WFS1 p.Thr321Met Uncertain significance Multiple submitters
WFS1 p.Thr337Ile Likely pathogenic Multiple submitters
WFS1-related disorder
WFS1 p.Thr361Ile Pathogenic/Likely pathogenic Multiple submitters
WFS1-related disorder
WFS1 p.Thr440Ile Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Thr455Met Uncertain significance Multiple submitters
Wolfram syndrome 1
WFS1 p.Thr600Ile Uncertain significance Multiple submitters
WFS1-Related Spectrum Disorders
WFS1 p.Thr600Ser Uncertain significance Multiple submitters
Wolfram syndrome 1
WFS1 p.Thr641Met Uncertain significance Multiple submitters
WFS1-related disorder
WFS1 p.Thr665Pro Uncertain significance Multiple submitters
Wolfram syndrome 1
WFS1 p.Thr686Ala Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Thr686Asn Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Thr686Ile Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Thr778Ile Uncertain significance Multiple submitters
WFS1 p.Trp588Cys Uncertain significance Multiple submitters
cataract 41
WFS1 p.Trp639Gly Pathogenic/Likely pathogenic Multiple submitters
WFS1-related disorder
WFS1 p.Trp648Leu Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Tyr351Cys Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Tyr405His Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Tyr513Ser Uncertain significance Multiple submitters
WFS1-Related Spectrum Disorders
WFS1 p.Val176Ala Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Val176Met Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Val358Leu Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Val412Asp Uncertain significance Multiple submitters
Inborn genetic diseases
WFS1 p.Val415Leu Uncertain significance Multiple submitters
cataract 41
WFS1 p.Val545Leu Uncertain significance Multiple submitters
WFS1 p.Val633Leu Uncertain significance Multiple submitters
WFS1 p.Val709Met Uncertain significance Multiple submitters
autosomal dominant nonsyndromic hearing loss 6
WFS1 p.Val779Leu Uncertain significance Multiple submitters
Wolfram-like syndrome
WFS1 p.Val803Met Uncertain significance Multiple submitters
cataract 41
WFS1 p.Ala307Asp Uncertain significance Single submitter
WFS1 p.Ala326Val Conflicting Single submitter
Wolfram syndrome 1
WFS1 p.Ala393Thr Uncertain significance Single submitter
WFS1 p.Ala451Thr Uncertain significance Single submitter
WFS1 p.Ala519Thr Uncertain significance Single submitter
autosomal dominant nonsyndromic hearing loss 6

All WFS1 variants

Pathogenic 75

c.316-2A>G Multiple submitters
c.460+1G>A Multiple submitters Wolfram syndrome 1
c.861+2T>C Multiple submitters Wolfram syndrome 1
p.Arg42fs Multiple submitters Wolfram syndrome 1
p.Arg517fs Multiple submitters cataract 41
p.Arg629Trp Multiple submitters Inborn genetic diseases ⚠
p.Cys847Ter Multiple submitters Wolfram syndrome 1
p.Glu273Ter Multiple submitters WFS1-related disorder
p.Glu809Lys Multiple submitters Wolfram-like syndrome ⚠
p.Gly674Glu Multiple submitters autosomal dominant nonsyndromic hearing loss 6
p.Phe884fs Multiple submitters WFS1-related disorder
p.Pro453_Tyr454insTer Multiple submitters Wolfram syndrome 1
p.Ser411fs Multiple submitters WFS1-related disorder
p.Trp700Ter Multiple submitters WFS1-related disorder
p.Tyr110Ter Multiple submitters Wolfram syndrome 1
p.Tyr291Ter Multiple submitters Wolfram syndrome
p.Tyr650fs Multiple submitters Wolfram syndrome 1
p.Tyr652Ter Multiple submitters autosomal dominant nonsyndromic hearing loss 6
p.Tyr735Ter Multiple submitters Wolfram syndrome 1
p.Val412fs Multiple submitters Wolfram syndrome 1
p.Val415del Multiple submitters WFS1-related disorder
c.460+1G>C Single submitter Wolfram syndrome 1
c.861_861+8del Single submitter optic atrophy
p.Ala370fs Single submitter Wolfram syndrome 1
p.Ala684Thr Single submitter ⚠
p.Arg558fs Single submitter
p.Arg676fs Single submitter
p.Arg685Pro Single submitter Rare genetic deafness
p.Asn714Thr Single submitter Rare genetic deafness ⚠
p.Asp771His Single submitter
p.Gln112Ter Single submitter
p.Gln20Ter Single submitter
p.Gln22fs Single submitter
p.Gln486Ter Single submitter
p.Glu394Ter Single submitter Wolfram syndrome 1
p.Glu452fs Single submitter autosomal dominant nonsyndromic hearing loss 6
p.Glu694fs Single submitter
p.Glu90Ter Single submitter
p.Gly702fs Single submitter
p.Leu200fs Single submitter
p.Leu554_Tyr563delinsHis Single submitter
p.Lys253Ter Single submitter
p.Lys705Asn Single submitter ⚠
p.Lys762Ter Single submitter
p.Phe247fs Single submitter Wolfram syndrome 1
p.Phe417fs Single submitter Wolfram syndrome 1
p.Phe439fs Single submitter
p.Phe646fs Single submitter Wolfram syndrome 1
p.Pro320fs Single submitter
p.Pro428Arg Single submitter ⚠
p.Pro740fs Single submitter
p.Ser262fs Single submitter
p.Ser418fs Single submitter Wolfram syndrome 1
p.Ser654Ter Single submitter Wolfram syndrome 1
p.Ser790Ter Single submitter Wolfram syndrome
p.Thr321fs Single submitter
p.Thr5fs Single submitter
p.Trp129fs Single submitter
p.Trp314Arg Single submitter ⚠
p.Trp371Ter Single submitter Wolfram syndrome 1
p.Trp612Ter Single submitter
p.Trp613Ter Single submitter Wolfram syndrome 1
p.Trp666Ter Single submitter
p.Trp700Cys Single submitter
p.Tyr254Ter Single submitter Wolfram syndrome 1
p.Tyr454Ter Single submitter Wolfram syndrome 1
p.Tyr510Ter Single submitter
p.Tyr650His Single submitter ⚠
p.Tyr669His Single submitter ⚠
p.Val364fs Single submitter
c.862-1G>A No assertion criteria
p.Cys505Tyr No assertion criteria diabetes mellitus ⚠
p.Gln819Ter No assertion criteria Wolfram syndrome 1
p.Lys634Thr No assertion criteria autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Thr337fs No assertion criteria Wolfram syndrome 1

Pathogenic/Likely pathogenic 71

c.233-1G>C Multiple submitters Wolfram syndrome 1
c.861+1G>A Multiple submitters WFS1-related disorder
p.565LF[1] Multiple submitters WFS1-related disorder
p.Ala126Thr Multiple submitters WFS1-related disorder
p.Ala684Val Multiple submitters WFS1-related disorder ⚠
p.Ala716Thr Multiple submitters Monogenic hearing loss ⚠
p.Ala806Pro Multiple submitters WFS1-related disorder
p.Ala852fs Multiple submitters WFS1-related disorder
p.Arg147fs Multiple submitters Wolfram syndrome 1
p.Arg26Ter Multiple submitters cataract 41
p.Arg42Ter Multiple submitters Inborn genetic diseases
p.Arg558Cys Multiple submitters Autosomal dominant and autosomal recessive WFS1-related disorders ⚠
p.Arg558His Multiple submitters optic atrophy ⚠
p.Arg772fs Multiple submitters cataract 41
p.Asn4fs Multiple submitters type 2 diabetes mellitus
p.Asp211Asn Multiple submitters WFS1-related disorder ⚠
p.Asp305_Met306insTer Multiple submitters WFS1-related disorder
p.Asp801Gly Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Cys537_Glu542delinsTer Multiple submitters Wolfram syndrome 1
p.Cys647Ter Multiple submitters Inborn genetic diseases
p.Cys765fs Multiple submitters Wolfram syndrome 1
p.Gln136Ter Multiple submitters WFS1-related disorder
p.Gln215Ter Multiple submitters autosomal dominant nonsyndromic hearing loss 6
p.Gln226Ter Multiple submitters WFS1-related disorder
p.Gln366Ter Multiple submitters WFS1-related disorder
p.Gln520Ter Multiple submitters Wolfram syndrome 1
p.Gln667Ter Multiple submitters WFS1-related disorder
p.Gln668Ter Multiple submitters WFS1-related disorder
p.Gln687Ter Multiple submitters
p.Glu169Lys Multiple submitters WFS1-related disorder
p.Glu202Gly Multiple submitters optic atrophy ⚠
p.Glu752Ter Multiple submitters WFS1-related disorder
p.Glu864Lys Multiple submitters WFS1-related disorder ⚠
p.Gly695Val Multiple submitters Wolfram syndrome 1
p.Gly702Ser Multiple submitters Wolfram syndrome 1
p.Gly736Arg Multiple submitters WFS1-related disorder
p.Gly736Ser Multiple submitters Wolfram-like syndrome
p.His313Tyr Multiple submitters ⚠
p.His323Arg Multiple submitters optic atrophy ⚠
p.Leu187Phe Multiple submitters Wolfram-like syndrome ⚠
p.Leu468del Multiple submitters Wolfram syndrome 1
p.Leu543Arg Multiple submitters Wolfram-like syndrome
p.Leu672Pro Multiple submitters WFS1-related disorder
p.Leu829Pro Multiple submitters Inborn genetic diseases ⚠
p.Lys836Asn Multiple submitters WFS1-related disorder ⚠
p.Phe414del Multiple submitters Wolfram syndrome
p.Phe516del Multiple submitters WFS1-related disorder
p.Phe882fs Multiple submitters Wolfram-like syndrome
p.Phe883fs Multiple submitters WFS1-related disorder
p.Pro504Leu Multiple submitters WFS1-related disorder
p.Pro724Ser Multiple submitters Wolfram syndrome 1
p.Pro885Leu Multiple submitters WFS1-related disorder
p.Ser430Ter Multiple submitters WFS1-related disorder
p.Ser443Arg Multiple submitters ⚠
p.Thr361Ile Multiple submitters WFS1-related disorder ⚠
p.Thr641Lys Multiple submitters Wolfram-like syndrome
p.Trp129Ter Multiple submitters WFS1-related disorder
p.Trp478Ter Multiple submitters Wolfram syndrome 1
p.Trp540Ter Multiple submitters Wolfram syndrome 1
p.Trp639Gly Multiple submitters WFS1-related disorder ⚠
p.Trp648Ter Multiple submitters WFS1-related disorder
p.Trp678Ter Multiple submitters Monogenic hearing loss
p.Trp730Ter Multiple submitters Wolfram syndrome 1
p.Trp867Ter Multiple submitters Wolfram syndrome 1
p.Tyr508fs Multiple submitters Wolfram syndrome 1
p.Tyr510_Leu514del Multiple submitters Wolfram syndrome
p.Tyr669Ter Multiple submitters cataract 41
p.Val142fs Multiple submitters WFS1-related disorder
p.Val483fs Multiple submitters Rare genetic deafness
p.Val509_Tyr513del Multiple submitters Wolfram syndrome 1
c.631+2T>G No assertion criteria

Likely pathogenic 85

c.631+1G>A Multiple submitters
p.Cys690Arg Multiple submitters WFS1-related disorder
p.Cys690Tyr Multiple submitters Wolfram syndrome 1
p.Gln392Ter Multiple submitters
p.Glu737fs Multiple submitters Wolfram syndrome 1
p.Gly695Asp Multiple submitters WFS1-related disorder ⚠
p.Leu402Pro Multiple submitters WFS1-related disorder
p.Leu410fs Multiple submitters WFS1-related disorder
p.Leu804Pro Multiple submitters autosomal dominant nonsyndromic hearing loss 6
p.Phe344_Ile345insAlaPhePhe Multiple submitters Wolfram syndrome 1
p.Thr337Ile Multiple submitters WFS1-related disorder ⚠
c.712+1G>A Single submitter
c.712+2_712+3del Single submitter
c.713-1G>T Single submitter
p.Ala326Glu Single submitter autosomal dominant nonsyndromic hearing loss 6
p.Ala559Asp Single submitter Wolfram syndrome 1 ⚠
p.Ala559Pro Single submitter WFS1-related disorder
p.Ala616fs Single submitter autosomal dominant nonsyndromic hearing loss 6
p.Arg708Leu Single submitter auditory neuropathy ⚠
p.Arg756Gly Single submitter Wolfram syndrome 1 ⚠
p.Asn714Ile Single submitter ⚠
p.Asn714Ser Single submitter autosomal dominant nonsyndromic hearing loss ⚠
p.Asp797His Single submitter WFS1-related disorder ⚠
p.Cys673fs Single submitter Wolfram-like syndrome
p.Cys690fs Single submitter autosomal dominant nonsyndromic hearing loss 6
p.Cys733Gly Single submitter Wolfram syndrome 1 ⚠
p.Cys742fs Single submitter Wolfram syndrome 1
p.Glu120Ter Single submitter Wolfram syndrome 1
p.Glu173Ter Single submitter Wolfram syndrome 1
p.Glu39Ter Single submitter Wolfram syndrome 1
p.Glu431Gln Single submitter Wolfram syndrome 1 ⚠
p.Glu462_Thr464del Single submitter Wolfram syndrome 1
p.Glu462Gly Single submitter cataract 41 ⚠
p.Glu795_Asp797delinsAspAspVal Single submitter
p.Glu824Ter Single submitter WFS1-related disorder
p.Glu864Gln Single submitter WFS1-related disorder ⚠
p.Glu864Val Single submitter WFS1-related disorder ⚠
p.Gly107Glu Single submitter Wolfram syndrome 1
p.Gly466fs Single submitter WFS1-related disorder
p.Gly526Asp Single submitter WFS1-related disorder ⚠
p.Gly674Val Single submitter Monogenic hearing loss
p.His872_Gly873insSerThrValHis Single submitter autosomal dominant nonsyndromic hearing loss 6
p.Ile319fs Single submitter Wolfram-like syndrome
p.Ile688Phe Single submitter Wolfram syndrome 1 ⚠
p.Leu506Arg Single submitter WFS1-related disorder
p.Leu514fs Single submitter autosomal dominant nonsyndromic hearing loss 6
p.Leu543Phe Single submitter Wolfram syndrome 1 ⚠
p.Leu543Pro Single submitter
p.Leu609fs Single submitter WFS1-related disorder
p.Leu610fs Single submitter WFS1-related disorder
p.Leu664fs Single submitter autosomal dominant nonsyndromic hearing loss 6
p.Leu664Pro Single submitter WFS1-related disorder
p.Leu842Phe Single submitter
p.Lys252Ter Single submitter
p.Lys369Ter Single submitter Wolfram syndrome 1
p.Lys843_Leu848del Single submitter Neurodevelopmental abnormality
p.Lys862Asn Single submitter ⚠
p.Met312_His313insLeuGluIleLysGluTyrLeuIleAspMetAlaSerArgAlaGlyMet Single submitter
p.Phe350Ile Single submitter ⚠
p.Phe515fs Single submitter autosomal dominant nonsyndromic hearing loss 6
p.Phe775fs Single submitter autosomal dominant nonsyndromic hearing loss 6
p.Pro292Ser Single submitter Wolfram syndrome 1 ⚠
p.Pro50fs Single submitter
p.Ser32Ter Single submitter Wolfram syndrome 1
p.Thr321Pro Single submitter diabetes mellitus ⚠
p.Thr614fs Single submitter WFS1-related disorder
p.Thr699Pro Single submitter Wolfram syndrome 1
p.Thr778fs Single submitter
p.Trp314fs Single submitter WFS1-related disorder
p.Trp639Ter Single submitter Wolfram syndrome 1
p.Trp700Ser Single submitter
p.Tyr508Ser Single submitter WFS1-related disorder ⚠
p.Tyr530Ter Single submitter WFS1-related disorder
p.Tyr650Asp Single submitter ⚠
p.Tyr669Cys Single submitter Wolfram syndrome 1
p.Val288Gly Single submitter Wolfram syndrome 1
p.Val463fs Single submitter WFS1-related disorder
p.Val498fs Single submitter Wolfram syndrome 1
p.Val501fs Single submitter autosomal dominant nonsyndromic hearing loss 6
p.Val779Gly Single submitter autosomal dominant nonsyndromic hearing loss 6
p.Ala433Pro No assertion criteria optic atrophy
p.Glu680Gln No assertion criteria optic atrophy ⚠
p.Ser430Trp No assertion criteria
p.Val415Phe No assertion criteria cataract 41 ⚠
p.Val509_Tyr510insSerValProCysLeuLeuTyrVal No assertion criteria WFS1-related disorder

Conflicting classifications of pathogenicity 259

c.712+1G>T Single submitter Wolfram syndrome 1
c.-27C>T Single submitter Wolfram syndrome 1
c.-43G>C Single submitter autosomal dominant nonsyndromic hearing loss 6
c.-4C>T Single submitter Wolfram syndrome 1
c.-55C>G Single submitter autosomal dominant nonsyndromic hearing loss 6
c.*11C>G Single submitter Wolfram syndrome 1
c.*14C>T Single submitter autosomal dominant nonsyndromic hearing loss 6
c.*158G>A Single submitter Wolfram syndrome 1
c.*223C>G Single submitter Wolfram syndrome 1
c.*258A>G Single submitter Wolfram syndrome 1
c.*260G>C Single submitter autosomal dominant nonsyndromic hearing loss 6
c.*300A>G Single submitter autosomal dominant nonsyndromic hearing loss 6
c.*37C>A Single submitter autosomal dominant nonsyndromic hearing loss 6
c.*448A>T Single submitter autosomal dominant nonsyndromic hearing loss 6
c.*455A>G Single submitter autosomal dominant nonsyndromic hearing loss 6
c.*506C>T Single submitter autosomal dominant nonsyndromic hearing loss 6
c.*520G>A Single submitter autosomal dominant nonsyndromic hearing loss 6
c.*526A>C Single submitter WFS1-Related Spectrum Disorders
c.*605T>C Single submitter Wolfram syndrome 1
c.*654G>A Single submitter Wolfram syndrome 1
c.*656C>T Single submitter autosomal dominant nonsyndromic hearing loss 6
c.*700C>A Single submitter Wolfram syndrome 1
c.*9C>T Single submitter WFS1-related disorder
p.Ala133Thr Single submitter autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Ala150Val Single submitter type 2 diabetes mellitus ⚠
p.Ala243Val Single submitter monogenic diabetes ⚠
p.Ala31Gly Single submitter Inborn genetic diseases ⚠
p.Ala326Thr Single submitter autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Ala326Val Single submitter Wolfram syndrome 1 ⚠
p.Ala342Thr Single submitter WFS1-Related Spectrum Disorders ⚠
p.Ala422Val Single submitter WFS1-Related Spectrum Disorders ⚠
p.Ala43Val Single submitter Wolfram syndrome 1 ⚠
p.Ala48Val Single submitter Inborn genetic diseases ⚠
p.Ala569Val Single submitter autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Ala575Gly Single submitter cataract 41 ⚠
p.Ala57Ser Single submitter Inborn genetic diseases ⚠
p.Ala57Thr Single submitter cataract 41 ⚠
p.Ala586= Single submitter WFS1-Related Spectrum Disorders
p.Ala58Thr Single submitter cataract 41 ⚠
p.Ala58Val Single submitter ⚠
p.Ala598Thr Single submitter Wolfram syndrome 1 ⚠
p.Ala671Ser Single submitter Wolfram syndrome 1 ⚠
p.Ala684= Single submitter WFS1-Related Spectrum Disorders
p.Ala684Gly Single submitter type 2 diabetes mellitus ⚠
p.Ala719= Single submitter Wolfram syndrome 1
p.Ala787Thr Single submitter ⚠
p.Ala844Val Single submitter Inborn genetic diseases ⚠
p.Ala874Thr Single submitter autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Ala889= Single submitter Wolfram syndrome 1
p.Arg138Cys Single submitter Wolfram syndrome 1 ⚠
p.Arg146Cys Single submitter Wolfram syndrome 1 ⚠
p.Arg177Cys Single submitter WFS1-related disorder ⚠
p.Arg228His Single submitter WFS1-Related Spectrum Disorders ⚠
p.Arg232His Single submitter Wolfram syndrome 1 ⚠
p.Arg26Gln Single submitter autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Arg383= Single submitter Wolfram syndrome 1
p.Arg383His Single submitter Wolfram syndrome 1 ⚠
p.Arg42Gln Single submitter Wolfram syndrome 1 ⚠
p.Arg456His Single submitter WFS1-Related Spectrum Disorders ⚠
p.Arg457Ser Single submitter WFS1-related disorder ⚠
p.Arg517Cys Single submitter Wolfram syndrome 1 ⚠
p.Arg587Gln Single submitter Wolfram syndrome 1 ⚠
p.Arg587Trp Single submitter Inborn genetic diseases ⚠
p.Arg629Gln Single submitter Rare genetic deafness ⚠
p.Arg653Cys Single submitter inherited retinal dystrophy ⚠
p.Arg676His Single submitter autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Arg685Cys Single submitter cataract 41 ⚠
p.Arg685His Single submitter Wolfram syndrome 1 ⚠
p.Arg703Cys Single submitter Wolfram syndrome 1 ⚠
p.Arg703His Single submitter Monogenic hearing loss ⚠
p.Arg708Cys Single submitter Inborn genetic diseases ⚠
p.Arg732Cys Single submitter Wolfram syndrome 1 ⚠
p.Arg732His Single submitter type 2 diabetes mellitus ⚠
p.Arg793= Single submitter WFS1-related disorder
p.Arg805Trp Single submitter
p.Arg818= Single submitter autosomal dominant nonsyndromic hearing loss 6
p.Arg818Cys Single submitter WFS1-Related Spectrum Disorders ⚠
p.Arg818His Single submitter WFS1-Related Spectrum Disorders ⚠
p.Arg859Gln Single submitter WFS1-related disorder ⚠
p.Arg859Gly Single submitter Inborn genetic diseases ⚠
p.Arg868His Single submitter Inborn genetic diseases ⚠
p.Asn325= Single submitter Wolfram syndrome 1
p.Asn500= Single submitter WFS1-Related Spectrum Disorders
p.Asn714Lys Single submitter ⚠
p.Asp118Ala Single submitter monogenic diabetes ⚠
p.Asp171Asn Single submitter ⚠
p.Asp267Asn Single submitter cataract 41 ⚠
p.Asp268= Single submitter autosomal dominant nonsyndromic hearing loss 6
p.Asp339Asn Single submitter Wolfram syndrome 1 ⚠
p.Asp367Tyr Single submitter Wolfram syndrome 1 ⚠
p.Asp379Asn Single submitter Wolfram syndrome 1 ⚠
p.Asp56= Single submitter Wolfram syndrome 1
p.Asp729Asn Single submitter Wolfram syndrome 1 ⚠
p.Asp771Tyr Single submitter ⚠
p.Asp797Asn Single submitter Monogenic hearing loss ⚠
p.Asp797delinsGluArg Single submitter Wolfram syndrome 1
p.Asp797Val Single submitter WFS1-related disorder ⚠
p.Asp866Asn Single submitter monogenic diabetes ⚠
p.Asp880_Phe881del Single submitter Wolfram syndrome 1
p.Cys148= Single submitter cataract 41
p.Cys541Trp Single submitter Wolfram syndrome 1 ⚠
p.Cys765Arg Single submitter Wolfram syndrome 1 ⚠
p.Cys847Tyr Single submitter Wolfram syndrome 1 ⚠
p.Cys850Tyr Single submitter Wolfram syndrome 1 ⚠
p.Gln194fs Single submitter cataract 41
p.Gln224= Single submitter
p.Gln687His Single submitter autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Gln819_Gly834del Single submitter cataract 41
p.Gln853_Leu854insProGln Single submitter Inborn genetic diseases
p.Glu158Lys Single submitter Wolfram syndrome 1 ⚠
p.Glu231= Single submitter
p.Glu231Lys Single submitter ⚠
p.Glu273Ala Single submitter Inborn genetic diseases ⚠
p.Glu273Lys Single submitter Wolfram syndrome 1 ⚠
p.Glu301Lys Single submitter Wolfram syndrome 1 ⚠
p.Glu385Lys Single submitter monogenic diabetes ⚠
p.Glu394Val Single submitter spastic ataxia ⚠
p.Glu593Asp Single submitter Inborn genetic diseases ⚠
p.Glu680Ala Single submitter Wolfram-like syndrome ⚠
p.Glu680del Single submitter Monogenic hearing loss
p.Glu717Lys Single submitter WFS1-related disorder ⚠
p.Glu737Lys Single submitter WFS1-Related Spectrum Disorders ⚠
p.Glu794Lys Single submitter Wolfram syndrome 1 ⚠
p.Glu795= Single submitter
p.Glu824Lys Single submitter cataract 41 ⚠
p.Gly115= Single submitter WFS1-Related Spectrum Disorders
p.Gly205= Single submitter Wolfram syndrome 1
p.Gly437= Single submitter autosomal dominant nonsyndromic hearing loss 6
p.Gly437Arg Single submitter Wolfram syndrome 1 ⚠
p.Gly553Ser Single submitter Inborn genetic diseases ⚠
p.Gly576Ser Single submitter monogenic diabetes ⚠
p.Gly581= Single submitter Wolfram syndrome 1
p.Gly674Arg Single submitter Monogenic hearing loss ⚠
p.Gly674Trp Single submitter autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Gly695Ser Single submitter WFS1-related disorder ⚠
p.Gly736= Single submitter autosomal dominant nonsyndromic hearing loss 6
p.Gly736Asp Single submitter Wolfram syndrome 1 ⚠
p.Gly76= Single submitter
p.Gly76Val Single submitter monogenic diabetes ⚠
p.Gly780= Single submitter autosomal dominant nonsyndromic hearing loss 6
p.Gly780Ser Single submitter WFS1-related disorder ⚠
p.Gly789Ser Single submitter Inborn genetic diseases ⚠
p.Gly78Arg Single submitter autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Gly820Val Single submitter Wolfram syndrome 1 ⚠
p.Gly831Asp Single submitter autosomal dominant nonsyndromic hearing loss 6 ⚠
p.His109Tyr Single submitter monogenic diabetes ⚠
p.His210= Single submitter
p.His322= Single submitter Wolfram syndrome 1
p.His407Tyr Single submitter Wolfram syndrome 1 ⚠
p.His860= Single submitter autosomal dominant nonsyndromic hearing loss 6
p.His872_Val875del Single submitter WFS1-related disorder
p.Ile242= Single submitter Wolfram syndrome 1
p.Ile296= Single submitter
p.Ile332= Single submitter
p.Ile338= Single submitter Wolfram-like syndrome
p.Ile338Val Single submitter Inborn genetic diseases ⚠
p.Ile421= Single submitter Wolfram syndrome 1
p.Ile489Met Single submitter Wolfram syndrome 1 ⚠
p.Ile561Ser Single submitter WFS1-related disorder
p.Ile561Val Single submitter Inborn genetic diseases ⚠
p.Ile727= Single submitter Wolfram syndrome 1
p.Ile802Met Single submitter cataract 41
p.Ile802Thr Single submitter Wolfram syndrome 1 ⚠
p.Leu149= Single submitter autosomal dominant nonsyndromic hearing loss 6
p.Leu382Pro Single submitter Wolfram-like syndrome ⚠
p.Leu432Val Single submitter WFS1-Related Spectrum Disorders ⚠
p.Leu445Val Single submitter autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Leu499Phe Single submitter monogenic diabetes ⚠
p.Leu512= Single submitter Wolfram syndrome 1
p.Leu565= Single submitter Wolfram syndrome 1
p.Leu592Val Single submitter ⚠
p.Leu664Arg Single submitter Wolfram syndrome 1 ⚠
p.Leu723Pro Single submitter ⚠
p.Leu734His Single submitter Wolfram syndrome 1 ⚠
p.Leu814Pro Single submitter WFS1-related disorder ⚠
p.Lys193del Single submitter WFS1-related disorder
p.Lys252Glu Single submitter Wolfram syndrome 1 ⚠
p.Lys705Glu Single submitter cataract 41 ⚠
p.Lys800Glu Single submitter ⚠
p.Lys811Arg Single submitter cataract 41 ⚠
p.Lys862del Single submitter
p.Lys876Thr Single submitter type 2 diabetes mellitus ⚠
p.Met306Thr Single submitter WFS1-Related Spectrum Disorders ⚠
p.Met474Leu Single submitter autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Met518Ile Single submitter monogenic diabetes ⚠
p.Met518Lys Single submitter optic nerve disorder ⚠
p.Met657Leu Single submitter ⚠
p.Met731Val Single submitter cataract 41 ⚠
p.Phe264Leu Single submitter autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Phe329Ile Single submitter autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Phe331Ile Single submitter cataract 41 ⚠
p.Phe350del Single submitter Wolfram syndrome 1
p.Phe354del Single submitter WFS1-related disorder
p.Phe384= Single submitter autosomal dominant nonsyndromic hearing loss 6
p.Phe413Val Single submitter Inborn genetic diseases ⚠
p.Phe417del Single submitter
p.Phe439Cys Single submitter Wolfram syndrome 1 ⚠
p.Phe775Val Single submitter Inborn genetic diseases ⚠
p.Phe810Leu Single submitter Wolfram syndrome 1 ⚠
p.Phe882Cys Single submitter auditory neuropathy ⚠
p.Pro10Ser Single submitter autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Pro19Leu Single submitter Wolfram syndrome 1 ⚠
p.Pro216Arg Single submitter cataract 41 ⚠
p.Pro346Leu Single submitter autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Pro44= Single submitter Wolfram syndrome 1
p.Pro453= Single submitter cataract 41
p.Pro472= Single submitter Wolfram syndrome 1
p.Pro52Ala Single submitter cataract 41 ⚠
p.Pro52Thr Single submitter Wolfram syndrome 1 ⚠
p.Pro533Ser Single submitter WFS1-Related Spectrum Disorders ⚠
p.Pro607Arg Single submitter ⚠
p.Pro607Leu Single submitter Inborn genetic diseases ⚠
p.Pro724Leu Single submitter Wolfram syndrome 1 ⚠
p.Pro838= Single submitter autosomal dominant nonsyndromic hearing loss 6
p.Ser168= Single submitter WFS1-Related Spectrum Disorders
p.Ser308Cys Single submitter bilateral perisylvian polymicrogyria ⚠
p.Ser38= Single submitter Wolfram syndrome 1
p.Ser430Leu Single submitter Wolfram syndrome 1 ⚠
p.Ser469Leu Single submitter WFS1-related disorder ⚠
p.Ser502= Single submitter autosomal dominant nonsyndromic hearing loss 6
p.Ser551= Single submitter Wolfram syndrome 1
p.Ser662= Single submitter autosomal dominant nonsyndromic hearing loss 6
p.Ser790Leu Single submitter ⚠
p.Ser790Trp Single submitter Wolfram syndrome 1 ⚠
p.Ser808= Single submitter WFS1-Related Spectrum Disorders
p.Ser812= Single submitter autosomal dominant nonsyndromic hearing loss 6
p.Ser888Ter Single submitter Wolfram syndrome 1
p.Thr125= Single submitter WFS1-Related Spectrum Disorders
p.Thr321Arg Single submitter ⚠
p.Thr361Ser Single submitter autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Thr461del Single submitter WFS1-related disorder
p.Thr461Ile Single submitter Wolfram syndrome 1 ⚠
p.Thr490Ala Single submitter Wolfram syndrome 1 ⚠
p.Thr527Ile Single submitter Inborn genetic diseases ⚠
p.Thr590Met Single submitter Wolfram syndrome 1 ⚠
p.Thr699Met Single submitter Monogenic hearing loss ⚠
p.Thr749Met Single submitter Wolfram syndrome 1 ⚠
p.Trp399Gly Single submitter Wolfram syndrome 1 ⚠
p.Trp588Ter Single submitter WFS1-related disorder
p.Tyr291= Single submitter Wolfram syndrome 1
p.Tyr508Cys Single submitter Wolfram syndrome 1 ⚠
p.Tyr650Cys Single submitter type 2 diabetes mellitus ⚠
p.Val258Ile Single submitter Wolfram syndrome 1 ⚠
p.Val288Met Single submitter Wolfram-like syndrome ⚠
p.Val395= Single submitter WFS1-Related Spectrum Disorders
p.Val412Ala Single submitter WFS1-Related Spectrum Disorders ⚠
p.Val412Leu Single submitter WFS1-Related Spectrum Disorders ⚠
p.Val498Ile Single submitter Wolfram-like syndrome ⚠
p.Val503= Single submitter Wolfram syndrome 1
p.Val503Gly Single submitter type 2 diabetes mellitus ⚠
p.Val503Ile Single submitter WFS1-Related Spectrum Disorders ⚠
p.Val601Met Single submitter Wolfram syndrome 1 ⚠
p.Val624Ala Single submitter cataract 41 ⚠
p.Val644Leu Single submitter ⚠
p.Val779Met Single submitter monogenic diabetes ⚠
p.Val839Ala Single submitter Wolfram syndrome 1
p.Val871Gly Single submitter autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Val871Met Single submitter monogenic diabetes ⚠
p.Val875Met Single submitter Wolfram syndrome 1 ⚠

Benign 93

c.232+90G>A Multiple submitters Wolfram syndrome 1
c.316-120T>C Multiple submitters
c.316-225G>A Multiple submitters
c.316-235C>G Multiple submitters Wolfram syndrome 1
c.460+145C>G Multiple submitters
c.461-106C>G Multiple submitters
c.461-125A>C Multiple submitters
c.461-15C>T Multiple submitters WFS1-Related Spectrum Disorders
c.461-208G>C Multiple submitters Wolfram syndrome 1
c.461-281G>C Multiple submitters Wolfram syndrome 1
c.631+164G>C Multiple submitters Wolfram syndrome 1
c.631+256T>C Multiple submitters
c.632-170A>G Multiple submitters
c.632-198T>C Multiple submitters
c.632-94G>A Multiple submitters
c.712+195C>G Multiple submitters Wolfram syndrome 1
c.712+78T>C Multiple submitters
c.713-1018A>G Multiple submitters Wolfram syndrome 1
c.713-1024A>T Multiple submitters Wolfram syndrome 1
c.713-1075C>G Multiple submitters Wolfram syndrome
c.713-1185C>A Multiple submitters Wolfram syndrome 1
c.713-1203C>T Multiple submitters Wolfram syndrome 1
c.713-1219C>T Multiple submitters Wolfram syndrome 1
c.713-1341C>G Multiple submitters Wolfram syndrome 1
c.713-1360G>A Multiple submitters Wolfram syndrome 1
c.713-321G>T Multiple submitters
c.713-783G>A Multiple submitters Wolfram syndrome 1
c.713-915C>T Multiple submitters Wolfram syndrome 1
c.713-945A>G Multiple submitters Wolfram syndrome 1
c.713-993C>T Multiple submitters Wolfram syndrome 1
c.862-118G>A Multiple submitters
c.862-164C>G Multiple submitters Wolfram syndrome 1
c.862-185C>T Multiple submitters Wolfram syndrome 1
c.-5-131C>T Multiple submitters
c.-6+85T>C Multiple submitters
c.*149G>A Multiple submitters autosomal dominant nonsyndromic hearing loss 6
c.*241T>C Multiple submitters Wolfram syndrome 1
c.*242G>C Multiple submitters Wolfram syndrome 1
c.*253G>A Multiple submitters autosomal dominant nonsyndromic hearing loss 6
c.*274A>G Multiple submitters Wolfram syndrome 1
c.*333C>A Multiple submitters autosomal dominant nonsyndromic hearing loss 6
c.*358T>C Multiple submitters autosomal dominant nonsyndromic hearing loss 6
c.*47T>C Multiple submitters autosomal dominant nonsyndromic hearing loss 6
c.*512C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 6
c.*54A>G Multiple submitters WFS1-Related Spectrum Disorders
c.*567C>G Multiple submitters autosomal dominant nonsyndromic hearing loss 6
c.*604G>C Multiple submitters autosomal dominant nonsyndromic hearing loss 6
c.*637T>C Multiple submitters Wolfram syndrome 1
c.*683C>T Multiple submitters WFS1-Related Spectrum Disorders
c.*69C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 6
c.*90G>A Multiple submitters autosomal dominant nonsyndromic hearing loss 6
c.*91C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 6
p.Ala310= Multiple submitters WFS1-Related Spectrum Disorders
p.Ala575= Multiple submitters WFS1-Related Spectrum Disorders
p.Arg228= Multiple submitters WFS1-Related Spectrum Disorders
p.Cys673= Multiple submitters WFS1-Related Spectrum Disorders
p.Ile561= Multiple submitters WFS1-Related Spectrum Disorders
p.Lys774= Multiple submitters WFS1-Related Spectrum Disorders
p.Lys811= Multiple submitters diabetes mellitus
p.Phe341= Multiple submitters WFS1-Related Spectrum Disorders
p.Thr600= Multiple submitters WFS1-Related Spectrum Disorders
c.232+225C>A Single submitter
c.316-14T>G Single submitter Wolfram syndrome 1
c.461-169_461-168insAGGGGCATG Single submitter
c.461-169_461-168insAGGGGCATGGC Single submitter
c.461-169_461-168insAGGGGCGTGGC Single submitter
c.631+143C>G Single submitter
c.712+114A>G Single submitter
c.712+131C>T Single submitter
c.712+182G>A Single submitter
c.712+243G>A Single submitter
c.712+277A>G Single submitter
c.713-1317A>G Single submitter
c.713-1317A>T Single submitter Wolfram syndrome 1
c.861+101G>A Single submitter
c.861+137_861+138insGGG Single submitter
c.861+204G>A Single submitter
c.862-332A>T Single submitter
c.-331G>T Single submitter
c.-5-205G>C Single submitter
c.-5-255G>C Single submitter
c.-55C>T Single submitter Wolfram syndrome 1
c.-6+14C>A Single submitter
c.-6+229G>C Single submitter
c.-6+32_-6+49dup Single submitter
c.*553G>C Single submitter Wolfram syndrome 1
p.Gln667= Single submitter Wolfram syndrome 1
p.Gly398= Single submitter Wolfram syndrome 1
p.Leu27= Single submitter Wolfram syndrome 1
p.Phe340= Single submitter Wolfram syndrome 1
p.Pro279= Single submitter Wolfram syndrome 1
p.Val333Phe Single submitter
p.Val779= Single submitter Wolfram syndrome 1

Benign/Likely benign 122

c.315+11C>T Multiple submitters Wolfram syndrome 1
c.315+12G>A Multiple submitters Wolfram syndrome 1
c.316-164A>G Multiple submitters Wolfram syndrome 1
c.461-166_461-165insCA Multiple submitters Wolfram syndrome 1
c.461-91G>A Multiple submitters Wolfram syndrome 1
c.461-9A>G Multiple submitters WFS1-Related Spectrum Disorders
c.631+12C>T Multiple submitters Wolfram syndrome 1
c.712+16G>A Multiple submitters Wolfram syndrome 1
c.712+8C>T Multiple submitters Wolfram syndrome 1
c.713-231G>A Multiple submitters Wolfram syndrome 1
c.861+15C>A Multiple submitters
c.-264A>G Multiple submitters Wolfram syndrome 1
c.-6+11C>T Multiple submitters WFS1-Related Spectrum Disorders
c.*131C>T Multiple submitters WFS1-Related Spectrum Disorders
c.*263T>G Multiple submitters autosomal dominant nonsyndromic hearing loss 6
c.*288C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 6
c.*80C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 6
p.Ala114= Multiple submitters autosomal dominant nonsyndromic hearing loss 6
p.Ala133= Multiple submitters Wolfram syndrome 1
p.Ala134= Multiple submitters WFS1-Related Spectrum Disorders
p.Ala198= Multiple submitters Wolfram syndrome 1
p.Ala214= Multiple submitters Wolfram syndrome 1
p.Ala23= Multiple submitters Wolfram syndrome 1
p.Ala275= Multiple submitters autosomal dominant nonsyndromic hearing loss 6
p.Ala326= Multiple submitters
p.Ala43= Multiple submitters Wolfram syndrome 1
p.Ala559Thr Multiple submitters monogenic diabetes
p.Ala602Val Multiple submitters monogenic diabetes
p.Ala671= Multiple submitters Wolfram syndrome 1
p.Ala671Val Multiple submitters monogenic diabetes
p.Ala844= Multiple submitters Wolfram syndrome 1
p.Ala874= Multiple submitters type 2 diabetes mellitus
p.Ala97= Multiple submitters Wolfram syndrome 1
p.Arg161Gln Multiple submitters WFS1-Related Spectrum Disorders
p.Arg285His Multiple submitters WFS1-Related Spectrum Disorders
p.Arg375= Multiple submitters Wolfram syndrome 1
p.Arg558= Multiple submitters Wolfram syndrome 1
p.Arg587= Multiple submitters Wolfram syndrome 1
p.Arg708= Multiple submitters WFS1-Related Spectrum Disorders
p.Asn159= Multiple submitters Wolfram syndrome 1
p.Asp267= Multiple submitters Wolfram syndrome 1
p.Asp272= Multiple submitters Wolfram syndrome 1
p.Asp75= Multiple submitters Wolfram syndrome 1
p.Asp797= Multiple submitters cataract 41
p.Asp797dup Multiple submitters WFS1-related disorder
p.Cys360= Multiple submitters Wolfram syndrome 1
p.Cys426Tyr Multiple submitters monogenic diabetes
p.Gln14Arg Multiple submitters WFS1-Related Spectrum Disorders
p.Glu391= Multiple submitters Wolfram syndrome 1
p.Glu680= Multiple submitters WFS1-Related Spectrum Disorders
p.Glu776Val Multiple submitters nonsyndromic genetic hearing loss
p.Gly437Ser Multiple submitters WFS1-Related Spectrum Disorders
p.Gly695= Multiple submitters Wolfram syndrome 1
p.Gly728= Multiple submitters WFS1-Related Spectrum Disorders
p.Gly745Ser Multiple submitters Inborn genetic diseases
p.Gly78= Multiple submitters Wolfram syndrome 1
p.Gly786= Multiple submitters Wolfram syndrome 1
p.Gly786Ser Multiple submitters monogenic diabetes
p.His450= Multiple submitters Wolfram syndrome 1
p.His865= Multiple submitters Wolfram syndrome 1
p.Ile421Val Multiple submitters Wolfram syndrome 1
p.Ile597= Multiple submitters Wolfram-like syndrome
p.Ile643= Multiple submitters autosomal dominant nonsyndromic hearing loss 6
p.Ile720Val Multiple submitters diabetes mellitus
p.Ile802= Multiple submitters Wolfram syndrome 1
p.Ile823= Multiple submitters WFS1-Related Spectrum Disorders
p.Leu121= Multiple submitters Wolfram syndrome 1
p.Leu132= Multiple submitters Wolfram syndrome 1
p.Leu327= Multiple submitters Wolfram syndrome 1
p.Leu381= Multiple submitters Wolfram-like syndrome
p.Leu432= Multiple submitters WFS1-Related Spectrum Disorders
p.Leu481= Multiple submitters Wolfram syndrome 1
p.Leu484= Multiple submitters Wolfram syndrome 1
p.Leu608= Multiple submitters Wolfram syndrome 1
p.Leu645= Multiple submitters Wolfram syndrome 1
p.Leu815= Multiple submitters Wolfram syndrome 1
p.Leu822= Multiple submitters Wolfram syndrome 1
p.Lys193Gln Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Lys277= Multiple submitters Wolfram syndrome 1
p.Lys363= Multiple submitters Wolfram syndrome 1
p.Phe414= Multiple submitters Wolfram syndrome 1
p.Phe585= Multiple submitters Wolfram syndrome 1
p.Phe877= Multiple submitters Wolfram syndrome 1
p.Pro346= Multiple submitters type 2 diabetes mellitus
p.Pro386= Multiple submitters Wolfram syndrome 1
p.Pro475= Multiple submitters Wolfram syndrome 1
p.Ser3= Multiple submitters WFS1-Related Spectrum Disorders
p.Ser308= Multiple submitters Wolfram syndrome 1
p.Ser32= Multiple submitters Wolfram syndrome 1
p.Ser430= Multiple submitters Wolfram syndrome 1
p.Ser473= Multiple submitters Wolfram syndrome 1
p.Ser544= Multiple submitters Wolfram syndrome 1
p.Ser560= Multiple submitters cataract 41
p.Ser785= Multiple submitters Wolfram syndrome 1
p.Ser855Pro Multiple submitters monogenic diabetes
p.Ser869= Multiple submitters cataract 41
p.Thr117Met Multiple submitters monogenic diabetes
p.Thr156= Multiple submitters Wolfram syndrome 1
p.Thr436= Multiple submitters WFS1-Related Spectrum Disorders
p.Thr440= Multiple submitters Wolfram syndrome 1
p.Thr487= Multiple submitters Wolfram syndrome 1
p.Thr490= Multiple submitters Wolfram syndrome 1
p.Thr590= Multiple submitters autosomal dominant nonsyndromic hearing loss 6
p.Thr628= Multiple submitters Wolfram syndrome 1
p.Thr641= Multiple submitters Wolfram syndrome 1
p.Thr701= Multiple submitters Wolfram syndrome 1
p.Thr749= Multiple submitters WFS1-Related Spectrum Disorders
p.Thr778= Multiple submitters Wolfram syndrome 1
p.Thr799= Multiple submitters Wolfram syndrome 1
p.Tyr254= Multiple submitters Wolfram syndrome 1
p.Tyr510= Multiple submitters Wolfram syndrome 1
p.Tyr735= Multiple submitters WFS1-Related Spectrum Disorders
p.Val412= Multiple submitters Wolfram syndrome 1
p.Val434= Multiple submitters Wolfram syndrome 1
p.Val441Met Multiple submitters Wolfram syndrome 1
p.Val493= Multiple submitters Wolfram syndrome 1
p.Val497= Multiple submitters Wolfram syndrome 1
p.Val501= Multiple submitters Wolfram syndrome 1
p.Val580= Multiple submitters Wolfram syndrome 1
p.Val599= Multiple submitters WFS1-Related Spectrum Disorders
p.Val606= Multiple submitters Wolfram syndrome 1
p.Val875= Multiple submitters Wolfram syndrome 1

Likely benign 381

Showing the top 300 by review status; the full set is in the sitemap.

c.315+17C>T Multiple submitters cataract 41
c.315+18G>A Multiple submitters cataract 41
c.316-14T>C Multiple submitters autosomal dominant nonsyndromic hearing loss 6
c.316-37C>T Multiple submitters
c.632-5T>C Multiple submitters Wolfram syndrome 1
c.712+12C>T Multiple submitters
c.712+19C>T Multiple submitters cataract 41
c.713-147G>A Multiple submitters
c.713-19G>A Multiple submitters cataract 41
c.861+19G>A Multiple submitters
c.862-18G>A Multiple submitters cataract 41
c.862-19C>T Multiple submitters cataract 41
p.Ala175= Multiple submitters
p.Ala196= Multiple submitters
p.Ala255= Multiple submitters
p.Ala342= Multiple submitters cataract 41
p.Ala393= Multiple submitters Wolfram syndrome 1
p.Ala451= Multiple submitters
p.Ala465= Multiple submitters
p.Ala578= Multiple submitters WFS1-related disorder
p.Ala58= Multiple submitters
p.Ala602= Multiple submitters
p.Ala716= Multiple submitters
p.Arg139= Multiple submitters Wolfram syndrome 1
p.Arg676= Multiple submitters WFS1-related disorder
p.Arg791= Multiple submitters
p.Asn208= Multiple submitters
p.Asp339= Multiple submitters
p.Asp729= Multiple submitters
p.Asp788= Multiple submitters Wolfram syndrome 1
p.Asp796= Multiple submitters Wolfram syndrome 1
p.Asp880= Multiple submitters
p.Cys850= Multiple submitters
p.Gln520= Multiple submitters Wolfram syndrome 1
p.Gln584= Multiple submitters cataract 41
p.Glu249= Multiple submitters Wolfram syndrome 1
p.Glu694= Multiple submitters
p.Gly257= Multiple submitters Wolfram syndrome 1
p.Gly466= Multiple submitters
p.Gly526= Multiple submitters
p.Gly562= Multiple submitters
p.Gly873= Multiple submitters autosomal dominant nonsyndromic hearing loss 6
p.His294= Multiple submitters autosomal dominant nonsyndromic hearing loss 6
p.His766= Multiple submitters Wolfram syndrome 1
p.Ile435= Multiple submitters
p.Ile636= Multiple submitters
p.Ile712= Multiple submitters
p.Ile828= Multiple submitters Wolfram syndrome 1
p.Leu172= Multiple submitters cataract 41
p.Leu181= Multiple submitters WFS1-related disorder
p.Leu303= Multiple submitters
p.Leu315= Multiple submitters
p.Leu336= Multiple submitters cataract 41
p.Leu402= Multiple submitters Wolfram syndrome 1
p.Leu410= Multiple submitters
p.Leu459= Multiple submitters autosomal dominant nonsyndromic hearing loss 6
p.Leu471= Multiple submitters
p.Leu543= Multiple submitters
p.Leu548= Multiple submitters
p.Leu554= Multiple submitters
p.Leu577= Multiple submitters WFS1-related disorder
p.Leu579= Multiple submitters WFS1-related disorder
p.Leu609= Multiple submitters
p.Leu734= Multiple submitters
p.Leu92= Multiple submitters
p.Lys625= Multiple submitters
p.Lys762= Multiple submitters Wolfram syndrome 1
p.Phe329= Multiple submitters
p.Phe343= Multiple submitters
p.Phe397= Multiple submitters Wolfram syndrome 1
p.Phe417= Multiple submitters
p.Phe564= Multiple submitters
p.Phe566= Multiple submitters
p.Phe770= Multiple submitters Wolfram syndrome 1
p.Phe783= Multiple submitters autosomal dominant nonsyndromic hearing loss 6
p.Phe840= Multiple submitters cataract 41
p.Phe879= Multiple submitters
p.Pro16= Multiple submitters
p.Pro292= Multiple submitters autosomal dominant nonsyndromic hearing loss 6
p.Pro492= Multiple submitters Wolfram syndrome 1
p.Pro571= Multiple submitters
p.Pro60= Multiple submitters
p.Pro607= Multiple submitters
p.Pro7= Multiple submitters Inborn genetic diseases
p.Pro724= Multiple submitters
p.Pro744= Multiple submitters
p.Ser11= Multiple submitters cataract 41
p.Ser157= Multiple submitters
p.Ser469= Multiple submitters
p.Ser631= Multiple submitters Wolfram syndrome 1
p.Ser715= Multiple submitters
p.Ser718= Multiple submitters WFS1-related disorder
p.Ser784= Multiple submitters
p.Ser790= Multiple submitters
p.Ser855= Multiple submitters autosomal dominant nonsyndromic hearing loss 6
p.Ser888= Multiple submitters
p.Thr170= Multiple submitters Wolfram-like syndrome
p.Thr317= Multiple submitters
p.Thr321= Multiple submitters
p.Thr378= Multiple submitters
p.Thr455= Multiple submitters cataract 41
p.Thr552= Multiple submitters
p.Thr870= Multiple submitters
p.Tyr444= Multiple submitters
p.Tyr534= Multiple submitters
p.Tyr706= Multiple submitters cataract 41
p.Val131= Multiple submitters Wolfram-like syndrome
p.Val197= Multiple submitters
p.Val204= Multiple submitters
p.Val498= Multiple submitters cataract 41
p.Val536= Multiple submitters
c.232+13G>A Single submitter
c.232+140C>T Single submitter
c.232+15T>A Single submitter
c.232+19_232+32del Single submitter
c.232+45T>C Single submitter
c.233-17T>C Single submitter
c.233-18G>T Single submitter
c.233-4197T>C Single submitter
c.315+18G>C Single submitter
c.315+20C>T Single submitter
c.315+236A>T Single submitter
c.315+29C>T Single submitter
c.315+7_315+23del Single submitter
c.316-18C>G Single submitter
c.316-9G>C Single submitter
c.460+11G>A Single submitter
c.460+13G>A Single submitter
c.460+14del Single submitter
c.460+16G>T Single submitter
c.460+7C>A Single submitter
c.460+9G>A Single submitter
c.461-12C>T Single submitter
c.461-169_461-168insAGGAGCATG Single submitter Wolfram syndrome 1
c.461-173_461-172insGCAGGGGCA Single submitter
c.461-18C>G Single submitter
c.461-244C>T Single submitter
c.461-6C>A Single submitter
c.461-7C>T Single submitter
c.631+11T>C Single submitter
c.631+14C>T Single submitter
c.631+18G>A Single submitter
c.631+20G>A Single submitter
c.631+22_631+38del Single submitter
c.631+8G>C Single submitter
c.632-10T>G Single submitter
c.632-14C>T Single submitter
c.632-20A>G Single submitter
c.632-8C>A Single submitter
c.632-8C>T Single submitter
c.712+13C>T Single submitter
c.712+17C>T Single submitter
c.712+18C>G Single submitter
c.712+20C>G Single submitter
c.712+20C>T Single submitter
c.712+47C>T Single submitter
c.713-10C>T Single submitter
c.713-1206C>T Single submitter
c.713-12C>G Single submitter
c.713-12C>T Single submitter
c.713-4T>C Single submitter
c.713-5T>G Single submitter
c.713-6C>T Single submitter
c.713-79C>A Single submitter
c.713-8T>C Single submitter
c.861+10C>T Single submitter
c.861+18C>T Single submitter
c.861+20G>A Single submitter
c.861+266C>T Single submitter
c.862-10T>C Single submitter
c.862-10T>G Single submitter
c.862-11C>A Single submitter
c.862-12T>A Single submitter
c.862-13A>G Single submitter
c.862-156G>A Single submitter
c.862-16A>G Single submitter
c.862-18G>C Single submitter
c.862-21_862-14del Single submitter
c.862-224G>C Single submitter
c.862-303C>T Single submitter
c.862-4C>G Single submitter
c.-5-134T>C Single submitter
c.*1G>C Single submitter
c.*7del Single submitter
p.Ala150= Single submitter
p.Ala243= Single submitter
p.Ala295Gly Single submitter Wolfram syndrome 1
p.Ala31= Single submitter
p.Ala370= Single submitter
p.Ala460Val Single submitter Inborn genetic diseases
p.Ala519= Single submitter
p.Ala559Gly Single submitter
p.Ala569= Single submitter
p.Ala59= Single submitter
p.Ala642= Single submitter
p.Ala677= Single submitter
p.Ala741= Single submitter
p.Ala750= Single submitter
p.Ala761= Single submitter
p.Ala852= Single submitter
p.Ala95= Single submitter
p.Arg152= Single submitter
p.Arg153= Single submitter
p.Arg161= Single submitter
p.Arg232= Single submitter
p.Arg309= Single submitter
p.Arg309Lys Single submitter
p.Arg456= Single submitter
p.Arg517= Single submitter
p.Arg522= Single submitter
p.Arg611= Single submitter WFS1-related disorder
p.Arg611His Single submitter
p.Arg69= Single submitter
p.Arg756= Single submitter
p.Arg772= Single submitter
p.Arg859= Single submitter
p.Asn373Ser Single submitter Inborn genetic diseases
p.Asn396= Single submitter
p.Asn714= Single submitter
p.Asp151= Single submitter
p.Asp245= Single submitter
p.Asp271= Single submitter
p.Asp305= Single submitter
p.Asp367= Single submitter
p.Asp389= Single submitter
p.Asp711Asn Single submitter
p.Asp801= Single submitter
p.Asp99= Single submitter
p.Cys426= Single submitter
p.Cys537= Single submitter
p.Cys742= Single submitter
p.Gln112= Single submitter
p.Gln136= Single submitter
p.Gln486= Single submitter
p.Gln64= Single submitter
p.Glu199= Single submitter
p.Glu298= Single submitter WFS1-related disorder
p.Glu301= Single submitter
p.Glu36= Single submitter
p.Glu394= Single submitter
p.Glu809= Single submitter
p.Gly311= Single submitter
p.Gly553= Single submitter
p.Gly576= Single submitter
p.Gly622= Single submitter
p.Gly745= Single submitter
p.Gly834= Single submitter
p.His109= Single submitter
p.His323= Single submitter
p.His407= Single submitter
p.His763= Single submitter
p.His872= Single submitter
p.Ile250= Single submitter
p.Ile299= Single submitter
p.Ile349= Single submitter
p.Ile355= Single submitter
p.Ile416= Single submitter
p.Ile427= Single submitter
p.Ile489= Single submitter
p.Ile489Leu Single submitter Inborn genetic diseases
p.Ile547= Single submitter
p.Ile720= Single submitter
p.Ile720Leu Single submitter
p.Ile863= Single submitter
p.Leu113= Single submitter
p.Leu166= Single submitter
p.Leu223= Single submitter
p.Leu263= Single submitter
p.Leu265= Single submitter
p.Leu274= Single submitter
p.Leu33= Single submitter
p.Leu352= Single submitter
p.Leu382= Single submitter
p.Leu409= Single submitter
p.Leu445= Single submitter
p.Leu467= Single submitter
p.Leu468= Single submitter
p.Leu470= Single submitter
p.Leu476= Single submitter
p.Leu496= Single submitter
p.Leu506= Single submitter
p.Leu511= Single submitter
p.Leu521= Single submitter
p.Leu535= Single submitter
p.Leu557= Single submitter
p.Leu557Val Single submitter Inborn genetic diseases
p.Leu573= Single submitter
p.Leu627= Single submitter
p.Leu672= Single submitter
p.Leu693= Single submitter
p.Leu723= Single submitter
p.Leu754= Single submitter
p.Leu759= Single submitter
p.Leu814= Single submitter
p.Leu829= Single submitter
p.Leu833= Single submitter
p.Leu842= Single submitter
p.Leu887= Single submitter
p.Lys225= Single submitter
p.Lys424= Single submitter

Uncertain significance 960

Showing the top 300 by review status; the full set is in the sitemap.

c.232+5G>A Multiple submitters
c.631+4C>T Multiple submitters type 2 diabetes mellitus
c.631+5G>A Multiple submitters Wolfram syndrome 1
c.862-3C>G Multiple submitters autosomal dominant nonsyndromic hearing loss 6
p.Ala102Thr Multiple submitters Wolfram syndrome 1 ⚠
p.Ala102Val Multiple submitters ⚠
p.Ala134Thr Multiple submitters hereditary ataxia ⚠
p.Ala134Val Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Ala198Val Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Ala214Val Multiple submitters Inborn genetic diseases ⚠
p.Ala23Val Multiple submitters ⚠
p.Ala255Thr Multiple submitters
p.Ala255Val Multiple submitters ⚠
p.Ala275Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala275Val Multiple submitters Wolfram-like syndrome ⚠
p.Ala295Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala307Val Multiple submitters Wolfram syndrome 1
p.Ala310Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala310Val Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Ala326Ser Multiple submitters WFS1-related disorder ⚠
p.Ala406Thr Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Ala422Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala433Thr Multiple submitters Inborn genetic diseases
p.Ala458Thr Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Ala460Thr Multiple submitters Wolfram syndrome 1 ⚠
p.Ala465Thr Multiple submitters Wolfram syndrome 1
p.Ala519Val Multiple submitters cataract 41 ⚠
p.Ala569Thr Multiple submitters cataract 41
p.Ala586Thr Multiple submitters type 2 diabetes mellitus ⚠
p.Ala598Val Multiple submitters Inborn genetic diseases ⚠
p.Ala59Asp Multiple submitters ⚠
p.Ala59Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala59Val Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Ala602Thr Multiple submitters ⚠
p.Ala616Pro Multiple submitters ⚠
p.Ala616Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Ala61Thr Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Ala677Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Ala6Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala738Asp Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Ala738Thr Multiple submitters cataract 41 ⚠
p.Ala741Val Multiple submitters cataract 41 ⚠
p.Ala74Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala750Thr Multiple submitters cataract 41 ⚠
p.Ala750Val Multiple submitters ⚠
p.Ala761Val Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Ala97Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg138His Multiple submitters Wolfram-like syndrome ⚠
p.Arg139Cys Multiple submitters ⚠
p.Arg139His Multiple submitters ⚠
p.Arg146His Multiple submitters WFS1-related disorder ⚠
p.Arg147Gln Multiple submitters cataract 41 ⚠
p.Arg147Trp Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Arg161Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg228Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg228Gln Multiple submitters Wolfram syndrome 1
p.Arg232Cys Multiple submitters
p.Arg24His Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Arg285Cys Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Arg375Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg375His Multiple submitters monogenic diabetes ⚠
p.Arg375Ser Multiple submitters ⚠
p.Arg383Cys Multiple submitters type 2 diabetes mellitus ⚠
p.Arg42Gly Multiple submitters ⚠
p.Arg42Pro Multiple submitters Wolfram syndrome 1 ⚠
p.Arg456Cys Multiple submitters WFS1-related disorder ⚠
p.Arg517His Multiple submitters cataract 41 ⚠
p.Arg522Met Multiple submitters WFS1-related disorder ⚠
p.Arg55Lys Multiple submitters ⚠
p.Arg611Cys Multiple submitters type 2 diabetes mellitus ⚠
p.Arg611Tyr Multiple submitters Wolfram syndrome 1
p.Arg653His Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Arg676Cys Multiple submitters Wolfram syndrome 1 ⚠
p.Arg676Pro Multiple submitters ⚠
p.Arg676Ser Multiple submitters
p.Arg697Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg708His Multiple submitters Wolfram syndrome 1 ⚠
p.Arg71Gln Multiple submitters ⚠
p.Arg71Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg756Cys Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Arg756His Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Arg772Cys Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Arg772His Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Arg791Cys Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Arg791His Multiple submitters Wolfram syndrome 1 ⚠
p.Arg793Cys Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Arg832Cys Multiple submitters WFS1-related disorder ⚠
p.Arg832His Multiple submitters Wolfram syndrome 1 ⚠
p.Arg859Trp Multiple submitters ⚠
p.Arg868Cys Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Arg868Pro Multiple submitters optic atrophy ⚠
p.Asn208Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn208Thr Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Asn477His Multiple submitters ⚠
p.Asn500Lys Multiple submitters autosomal dominant nonsyndromic hearing loss 6
p.Asn500Ser Multiple submitters
p.Asn714_Asn721del Multiple submitters Wolfram syndrome 1
p.Asn721Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn746Lys Multiple submitters cataract 41 ⚠
p.Asn849Ser Multiple submitters Wolfram-like syndrome ⚠
p.Asp151Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp211Gly Multiple submitters ⚠
p.Asp268Asn Multiple submitters ⚠
p.Asp367Asn Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Asp367Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp367Gly Multiple submitters Inborn genetic diseases
p.Asp389Glu Multiple submitters Wolfram syndrome 1 ⚠
p.Asp425Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp713Asn Multiple submitters ⚠
p.Asp713Gly Multiple submitters WFS1-Related Spectrum Disorders ⚠
p.Asp771Asn Multiple submitters type 2 diabetes mellitus ⚠
p.Asp866Tyr Multiple submitters cataract 41 ⚠
p.Asp880Asn Multiple submitters Wolfram syndrome 1 ⚠
p.Asp880His Multiple submitters cataract 41 ⚠
p.Cys360Arg Multiple submitters inherited retinal dystrophy ⚠
p.Cys360Tyr Multiple submitters optic atrophy ⚠
p.Cys505Gly Multiple submitters Inborn genetic diseases ⚠
p.Cys505Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Cys529Arg Multiple submitters ⚠
p.Cys537Tyr Multiple submitters monogenic diabetes ⚠
p.Cys541Gly Multiple submitters ⚠
p.Cys647Trp Multiple submitters ⚠
p.Cys847Arg Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Cys850Gly Multiple submitters cataract 41 ⚠
p.Gln392Glu Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Gln520Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln819Pro Multiple submitters ⚠
p.Glu140Lys Multiple submitters ⚠
p.Glu209Lys Multiple submitters ⚠
p.Glu237Lys Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Glu269Asp Multiple submitters cataract 41 ⚠
p.Glu301Asp Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Glu385Gln Multiple submitters Wolfram-like syndrome ⚠
p.Glu391Lys Multiple submitters cataract 41 ⚠
p.Glu394Lys Multiple submitters type 2 diabetes mellitus ⚠
p.Glu462Ala Multiple submitters type 2 diabetes mellitus ⚠
p.Glu550Ala Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Glu593Ala Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Glu593Gln Multiple submitters ⚠
p.Glu593Lys Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Glu694Gln Multiple submitters ⚠
p.Glu751Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu751Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu752Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu753Asp Multiple submitters Wolfram-like syndrome ⚠
p.Glu794Gly Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Glu795Asp Multiple submitters monogenic diabetes ⚠
p.Glu795del Multiple submitters autosomal dominant nonsyndromic hearing loss 6
p.Glu795Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu85Asp Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Gly115Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Gly205Ser Multiple submitters Wolfram syndrome 1 ⚠
p.Gly213Glu Multiple submitters cataract 41 ⚠
p.Gly398Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly437Cys Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Gly45Arg Multiple submitters Wolfram syndrome 1 ⚠
p.Gly466Ser Multiple submitters cataract 41 ⚠
p.Gly494Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Gly53_Val54insProGly Multiple submitters Wolfram-like syndrome
p.Gly53Val Multiple submitters ⚠
p.Gly553Cys Multiple submitters ⚠
p.Gly562Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly656Ser Multiple submitters ⚠
p.Gly76Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Gly786Cys Multiple submitters WFS1-Related Spectrum Disorders ⚠
p.Gly789Ala Multiple submitters ⚠
p.Gly820Asp Multiple submitters Wolfram syndrome 1 ⚠
p.His294Asp Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.His294Gln Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.His313Gln Multiple submitters ⚠
p.His313Pro Multiple submitters WFS1-related disorder ⚠
p.His323del Multiple submitters autosomal dominant nonsyndromic hearing loss 6
p.His407Arg Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.His495Tyr Multiple submitters Inborn genetic diseases ⚠
p.His763Gln Multiple submitters Inborn genetic diseases ⚠
p.His860Gln Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.His865Gln Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.His865Tyr Multiple submitters ⚠
p.His872Arg Multiple submitters Inborn genetic diseases ⚠
p.His872Pro Multiple submitters Inborn genetic diseases ⚠
p.Ile296Thr Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Ile299Met Multiple submitters Inborn genetic diseases ⚠
p.Ile319del Multiple submitters
p.Ile324Val Multiple submitters cataract 41 ⚠
p.Ile338Met Multiple submitters Wolfram syndrome 1 ⚠
p.Ile349Val Multiple submitters type 2 diabetes mellitus ⚠
p.Ile355Met Multiple submitters Inborn genetic diseases ⚠
p.Ile355Val Multiple submitters WFS1-related disorder ⚠
p.Ile359Asn Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Ile636Thr Multiple submitters WFS1-related disorder ⚠
p.Ile643Met Multiple submitters Diabetes ⚠
p.Ile688Thr Multiple submitters WFS1-related disorder ⚠
p.Ile712Thr Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Ile712Val Multiple submitters Inborn genetic diseases ⚠
p.Ile828Leu Multiple submitters Inborn genetic diseases ⚠
p.Ile828Met Multiple submitters cataract 41
p.Ile863Met Multiple submitters ⚠
p.Leu121Ile Multiple submitters Wolfram syndrome 1 ⚠
p.Leu121Phe Multiple submitters ⚠
p.Leu132Arg Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Leu200Pro Multiple submitters ⚠
p.Leu223Met Multiple submitters monogenic diabetes ⚠
p.Leu286Pro Multiple submitters WFS1-related disorder ⚠
p.Leu303Met Multiple submitters ⚠
p.Leu303Pro Multiple submitters ⚠
p.Leu327Ile Multiple submitters monogenic diabetes ⚠
p.Leu327Phe Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Leu377Val Multiple submitters Inborn genetic diseases
p.Leu467Val Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Leu481Pro Multiple submitters cataract 41 ⚠
p.Leu496Met Multiple submitters ⚠
p.Leu499del Multiple submitters
p.Leu514Phe Multiple submitters optic atrophy ⚠
p.Leu549Met Multiple submitters cataract 41 ⚠
p.Leu549Pro Multiple submitters cataract 41 ⚠
p.Leu549Val Multiple submitters ⚠
p.Leu554Val Multiple submitters ⚠
p.Leu573Val Multiple submitters Wolfram syndrome 1 ⚠
p.Leu594Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu635Val Multiple submitters ⚠
p.Leu645Pro Multiple submitters ⚠
p.Leu754Phe Multiple submitters cataract 41 ⚠
p.Leu759Val Multiple submitters ⚠
p.Leu817Met Multiple submitters Inborn genetic diseases ⚠
p.Leu833Arg Multiple submitters ⚠
p.Leu833Gln Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Leu848Val Multiple submitters ⚠
p.Lys186Asn Multiple submitters ⚠
p.Lys191Arg Multiple submitters ⚠
p.Lys221Thr Multiple submitters Wolfram-like syndrome ⚠
p.Lys253Arg Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Lys256Asn Multiple submitters Inborn genetic diseases ⚠
p.Lys277Arg Multiple submitters Wolfram syndrome 1 ⚠
p.Lys363Arg Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Lys482Gln Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Lys596Gln Multiple submitters ⚠
p.Lys634Arg Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Lys634Gln Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Lys679Gln Multiple submitters Inborn genetic diseases ⚠
p.Lys758Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys762Asn Multiple submitters ⚠
p.Lys769Asn Multiple submitters Inborn genetic diseases ⚠
p.Lys811Met Multiple submitters autosomal dominant nonsyndromic hearing loss 6
p.Lys843Arg Multiple submitters Inborn genetic diseases ⚠
p.Met229Thr Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Met297Val Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Met312Val Multiple submitters cataract 41 ⚠
p.Met518Val Multiple submitters ⚠
p.Met632Thr Multiple submitters ⚠
p.Met632Val Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Met657Thr Multiple submitters ⚠
p.Met683Arg Multiple submitters ⚠
p.Met722Ile Multiple submitters autosomal dominant nonsyndromic hearing loss 6
p.Met722Thr Multiple submitters Inborn genetic diseases ⚠
p.Met722Val Multiple submitters Wolfram syndrome 1 ⚠
p.Met731Lys Multiple submitters ⚠
p.Met781Ile Multiple submitters ⚠
p.Met851Arg Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Phe264Ser Multiple submitters Wolfram-like syndrome ⚠
p.Phe341_Phe344del Multiple submitters autosomal dominant nonsyndromic hearing loss 6
p.Phe343Ala Multiple submitters autosomal dominant nonsyndromic hearing loss 6
p.Phe350Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe397Cys Multiple submitters cataract 41 ⚠
p.Phe515Ser Multiple submitters ⚠
p.Phe564Leu Multiple submitters cataract 41
p.Phe568Ser Multiple submitters Inborn genetic diseases ⚠
p.Phe649Leu Multiple submitters Wolfram syndrome 1 ⚠
p.Phe725Leu Multiple submitters Wolfram syndrome 1 ⚠
p.Phe783Leu Multiple submitters ⚠
p.Phe884del Multiple submitters cataract 41
p.Phe884dup Multiple submitters
p.Phe884Tyr Multiple submitters Wolfram syndrome 1 ⚠
p.Pro13Leu Multiple submitters ⚠
p.Pro16Leu Multiple submitters Wolfram-like syndrome ⚠
p.Pro21Ala Multiple submitters Wolfram syndrome 1 ⚠
p.Pro404Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro404Leu Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Pro41His Multiple submitters Wolfram-like syndrome ⚠
p.Pro41Leu Multiple submitters ⚠
p.Pro420Ser Multiple submitters ⚠
p.Pro453Ala Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Pro475Leu Multiple submitters ⚠
p.Pro504Thr Multiple submitters Wolfram syndrome 1 ⚠
p.Pro52Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro607Ala Multiple submitters cataract 41 ⚠
p.Pro744Ser Multiple submitters ⚠
p.Pro764Ala Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Pro782Thr Multiple submitters ⚠
p.Pro7Leu Multiple submitters monogenic diabetes ⚠
p.Pro7Ser Multiple submitters Wolfram syndrome 1 ⚠
p.Pro838Leu Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Ser222Tyr Multiple submitters Inborn genetic diseases ⚠
p.Ser236= Multiple submitters Wolfram-like syndrome
p.Ser238Pro Multiple submitters ⚠
p.Ser334Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser353Phe Multiple submitters ⚠
p.Ser38Asn Multiple submitters cataract 41 ⚠
p.Ser411Phe Multiple submitters autosomal dominant nonsyndromic hearing loss 6 ⚠
p.Ser418Cys Multiple submitters Inborn genetic diseases ⚠
p.Ser446Asn Multiple submitters Inborn genetic diseases ⚠