NM_006005.3(WFS1):c.817G>T (p.Glu273Ter)Pathogenic
Diabetes mellitus|not provided|Cataract 41;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Wolfram syndrome 1;Wolfram-like syndrome|WFS1-related disorder
β
β
ββ2026β Residue 273
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)Pathogenic
not provided|Wolfram syndrome|not specified|WFS1-Related Spectrum Disorders|Diabetes mellitus|Wolfram syndrome 1|WFS1-related disorder|Retinal dystrophy|Type 2 diabetes mellitus|Autosomal dominant and autosomal recessive WFS1-related disorders|Optic atrophy|Cataract 41;Wolfram syndrome 1;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Wolfram-like syndrome|Monogenic hearing loss
β
β
ββ2026β Residue 558
NM_006005.3(WFS1):c.2170C>T (p.Pro724Ser)Pathogenic
not provided|Wolfram syndrome 1
β
β
ββ2026β Residue 724
NM_006005.3(WFS1):c.2206G>A (p.Gly736Ser)Pathogenic
not provided|Wolfram syndrome 1|Wolfram-like syndrome|Monogenic hearing loss
β
β
ββ2026β Residue 736
NM_006005.3(WFS1):c.2104G>A (p.Gly702Ser)Pathogenic
not provided|Optic atrophy|Wolfram syndrome 1
β
β
ββ2026β Residue 702
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)Pathogenic
Wolfram-like syndrome|Wolfram syndrome 1|not provided|Rare genetic deafness;Wolfram syndrome 1|Inborn genetic diseases|Autosomal dominant nonsyndromic hearing loss 6|WFS1-related disorder|Autosomal dominant nonsyndromic hearing loss|Optic atrophy|WFS1 Spectrum Disorder
β
β
ββ2026β Residue 684
NM_006005.3(WFS1):c.1243_1245del (p.Val415del)Pathogenic
not provided|Rare genetic deafness|WFS1-Related Spectrum Disorders|Wolfram syndrome 1|Cataract 41;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Wolfram syndrome 1;Wolfram-like syndrome|WFS1-related disorder|Early-onset non-syndromic cataract
β
β
ββ2026β Residue 415
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr)Pathogenic
Autosomal dominant nonsyndromic hearing loss 6|not provided|Rare genetic deafness|Monogenic hearing loss
β
β
ββ2026β Residue 716
NM_006005.3(WFS1):c.376G>A (p.Ala126Thr)Pathogenic
not provided|Wolfram syndrome 1|Optic atrophy
β
β
ββ2026β Residue 126
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1])Pathogenic
Wolfram syndrome|Wolfram syndrome 1|not provided|Cataract 41;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Wolfram syndrome 1;Wolfram-like syndrome|Inborn genetic diseases|WFS1-related disorder
β
β
ββ2026
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu)Pathogenic
Wolfram syndrome 1|Wolfram syndrome 1;Wolfram-like syndrome|Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Wolfram syndrome 1;Wolfram-like syndrome;Cataract 41|not provided|WFS1-related disorder
β
β
ββ2026β Residue 504
NM_006005.3(WFS1):c.409_424dup (p.Val142fs)Pathogenic
Wolfram syndrome 1|Wolfram syndrome|WFS1-Related Spectrum Disorders|not provided|Type 2 diabetes mellitus|Retinal dystrophy|Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Wolfram syndrome 1;Wolfram-like syndrome;Cataract 41
β
β
ββ2026β Residue 142
NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter)Pathogenic
not provided|Cataract 41;Wolfram-like syndrome;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Wolfram syndrome 1
β
β
ββ2025β Residue 366
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs)Pathogenic
not provided|Wolfram syndrome 1|Wolfram-like syndrome;Wolfram syndrome 1;Cataract 41;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus
β
β
ββ2025β Residue 882
NM_006005.3(WFS1):c.1673G>A (p.Arg558His)Pathogenic
not provided|Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Cataract 41;Wolfram syndrome 1;Wolfram-like syndrome|WFS1-related disorder|Wolfram syndrome|Inborn genetic diseases|Autosomal dominant nonsyndromic hearing loss 6;Wolfram syndrome 1|Wolfram syndrome 1|Optic atrophy
β
β
ββ2025β Residue 558
NM_006005.3(WFS1):c.505G>A (p.Glu169Lys)Pathogenic
not provided|WFS1-related disorder|Wolfram syndrome 1|Cataract 41;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Wolfram syndrome 1;Wolfram-like syndrome|Optic neuropathy|Autosomal dominant and autosomal recessive WFS1-related disorders
β
β
ββ2025β Residue 169
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs)Pathogenic
Wolfram syndrome 1|not provided|Cataract 41;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Wolfram syndrome 1;Wolfram-like syndrome
β
β
ββ2025β Residue 883
NM_006005.3(WFS1):c.631G>A (p.Asp211Asn)Pathogenic
not provided|Inborn genetic diseases|WFS1-related disorder|Cataract 41;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Wolfram syndrome 1;Wolfram-like syndrome
β
β
ββ2025β Residue 211
NM_006005.3(WFS1):c.1885C>T (p.Arg629Trp)Pathogenic
not provided|Wolfram syndrome 1|Inborn genetic diseases
β
β
ββ2025β Residue 629
NM_006005.3(WFS1):c.2293del (p.Cys765fs)Pathogenic
Wolfram syndrome 1;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Wolfram-like syndrome;Cataract 41|Wolfram syndrome 1
β
β
ββ2025β Residue 765