DSG1 — 953 ClinVar variants
All ClinVar germline DSG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 480 flagged for review →
29 Pathogenic · 3 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 15 Conflicting · 65 Benign · 15 Benign/Likely benign · 280 Likely benign · 529 Uncertain significance
Full DSG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 480
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 agree, ClinVar conflicts 10
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DSG1 p.Ala875Thr
Conflicting
Single submitter
Inborn genetic diseases
-
DSG1 p.Asn256Ser
Conflicting
Single submitter
Inborn genetic diseases
-
DSG1 p.Asp406Glu
Conflicting
Single submitter
Inborn genetic diseases
-
DSG1 p.Asp855Asn
Conflicting
Single submitter
Inborn genetic diseases
-
DSG1 p.Gly562Arg
Conflicting
Single submitter
palmoplantar keratoderma i, striate, focal, or diffuse
- DSG1 p.Leu287Phe Conflicting Single submitter
-
DSG1 p.Met984Val
Conflicting
Single submitter
Inborn genetic diseases
-
DSG1 p.Ser931Pro
Conflicting
Single submitter
Inborn genetic diseases
-
DSG1 p.Val792Ile
Conflicting
Single submitter
Inborn genetic diseases
-
DSG1 p.Val961Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 358
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 358
-
DSG1 p.Ala341Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Ala369Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Ala621Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Ala79Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Arg1016Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Arg1036Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Arg1038Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Arg139Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Arg386His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Arg578His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Arg712His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Arg857Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Arg887Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Arg897Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Asn263Ser
Uncertain significance
Multiple submitters
palmoplantar keratoderma i, striate, focal, or diffuse
- DSG1 p.Asn353His Uncertain significance Multiple submitters
-
DSG1 p.Asn482Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Asp490Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Asp745Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Cys589Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Glu356Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Glu625Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Glu667Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Glu953Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Gly216Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Gly245Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Gly505Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Gly647Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Gly727Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Gly795Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Gly804Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DSG1 p.Gly870Ser Uncertain significance Multiple submitters
-
DSG1 p.Gly932Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Gly960Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Gly978Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Gly989Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Gly989Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Ile1027Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Ile1027Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Ile349Thr
Uncertain significance
Multiple submitters
DSG1-related disorder
-
DSG1 p.Ile361Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Ile551Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Ile720Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Ile723Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Ile996Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Leu785His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Pro154Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Pro154Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DSG1 p.Pro417His Uncertain significance Multiple submitters
-
DSG1 p.Pro577Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Pro618Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Pro798Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Ser485Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Ser521Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Ser673Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Ser794Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DSG1 p.Ser812Asn Uncertain significance Multiple submitters
-
DSG1 p.Thr34Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Thr610Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Thr813Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Thr846Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DSG1 p.Thr923Arg Uncertain significance Multiple submitters
-
DSG1 p.Val1045Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Val1045Met
Uncertain significance
Multiple submitters
severe dermatitis-multiple allergies-metabolic wasting syndrome
-
DSG1 p.Val527Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Val564Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Val660Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Val808Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DSG1 p.Ala1030Thr Uncertain significance Single submitter
- DSG1 p.Ala160Thr Uncertain significance Single submitter
- DSG1 p.Ala163Val Uncertain significance Single submitter
- DSG1 p.Ala184Thr Uncertain significance Single submitter
- DSG1 p.Ala251Val Uncertain significance Single submitter
- DSG1 p.Ala341Val Uncertain significance Single submitter
- DSG1 p.Ala409Thr Uncertain significance Single submitter
- DSG1 p.Ala536Asp Uncertain significance Single submitter
- DSG1 p.Ala536Pro Uncertain significance Single submitter
- DSG1 p.Ala593Thr Uncertain significance Single submitter
- DSG1 p.Ala621Thr Uncertain significance Single submitter
- DSG1 p.Ala959Ser Uncertain significance Single submitter
- DSG1 p.Ala986Thr Uncertain significance Single submitter
- DSG1 p.Ala986Val Uncertain significance Single submitter
- DSG1 p.Ala994Val Uncertain significance Single submitter
- DSG1 p.Arg1036Leu Uncertain significance Single submitter
- DSG1 p.Arg117Gln Uncertain significance Single submitter
- DSG1 p.Arg128Gln Uncertain significance Single submitter
- DSG1 p.Arg227Lys Uncertain significance Single submitter
- DSG1 p.Arg26Gln Uncertain significance Single submitter
- DSG1 p.Arg291Lys Uncertain significance Single submitter
- DSG1 p.Arg386Cys Uncertain significance Single submitter
- DSG1 p.Arg438Ser Uncertain significance Single submitter
- DSG1 p.Arg45Gln Uncertain significance Single submitter
- DSG1 p.Arg491Ser Uncertain significance Single submitter
- DSG1 p.Arg49Leu Uncertain significance Single submitter
- DSG1 p.Arg578Cys Uncertain significance Single submitter
- DSG1 p.Arg59Cys Uncertain significance Single submitter
- DSG1 p.Arg7Gly Uncertain significance Single submitter
-
DSG1 p.Arg867Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- DSG1 p.Arg86His Uncertain significance Single submitter
- DSG1 p.Arg915Thr Uncertain significance Single submitter
-
DSG1 p.Arg954Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- DSG1 p.Asn1024Thr Uncertain significance Single submitter
-
DSG1 p.Asn103Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG1 p.Asn171Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- DSG1 p.Asn223Ser Uncertain significance Single submitter
-
DSG1 p.Asn33Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG1 p.Asn33Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DSG1 p.Asn480Asp Uncertain significance Single submitter
- DSG1 p.Asn497Ser Uncertain significance Single submitter
- DSG1 p.Asn503Asp Uncertain significance Single submitter
- DSG1 p.Asn534Lys Uncertain significance Single submitter
-
DSG1 p.Asn534Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DSG1 p.Asn80Thr Uncertain significance Single submitter
- DSG1 p.Asn834Ile Uncertain significance Single submitter
- DSG1 p.Asn945Lys Uncertain significance Single submitter
- DSG1 p.Asn945Ser Uncertain significance Single submitter
-
DSG1 p.Asp185Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- DSG1 p.Asp205Tyr Uncertain significance Single submitter
- DSG1 p.Asp226Glu Uncertain significance Single submitter
- DSG1 p.Asp226Gly Uncertain significance Single submitter
- DSG1 p.Asp247Gly Uncertain significance Single submitter
- DSG1 p.Asp2His Uncertain significance Single submitter
-
DSG1 p.Asp431Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- DSG1 p.Asp490Asn Uncertain significance Single submitter
- DSG1 p.Asp523Asn Uncertain significance Single submitter
- DSG1 p.Asp542Gly Uncertain significance Single submitter
- DSG1 p.Asp572Asn Uncertain significance Single submitter
- DSG1 p.Asp591Gly Uncertain significance Single submitter
-
DSG1 p.Asp591Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- DSG1 p.Asp608Tyr Uncertain significance Single submitter
- DSG1 p.Asp628Gly Uncertain significance Single submitter
- DSG1 p.Asp722Val Uncertain significance Single submitter
- DSG1 p.Asp745Asn Uncertain significance Single submitter
- DSG1 p.Asp770Asn Uncertain significance Single submitter
- DSG1 p.Asp828Asn Uncertain significance Single submitter
- DSG1 p.Asp855Glu Uncertain significance Single submitter
- DSG1 p.Asp876Val Uncertain significance Single submitter
- DSG1 p.Cys253Gly Uncertain significance Single submitter
- DSG1 p.Cys626Arg Uncertain significance Single submitter
- DSG1 p.Cys626Phe Uncertain significance Single submitter
- DSG1 p.Cys626Tyr Uncertain significance Single submitter
- DSG1 p.Gln1025Glu Uncertain significance Single submitter
- DSG1 p.Gln1046Lys Uncertain significance Single submitter
- DSG1 p.Gln201Arg Uncertain significance Single submitter
- DSG1 p.Gln271Glu Uncertain significance Single submitter
- DSG1 p.Gln343Arg Uncertain significance Single submitter
- DSG1 p.Gln670Arg Uncertain significance Single submitter
- DSG1 p.Gln778Glu Uncertain significance Single submitter
- DSG1 p.Gln82Arg Uncertain significance Single submitter
- DSG1 p.Gln928Pro Uncertain significance Single submitter
Predictors split 112
The independent predictors disagree with each other — read with care.
-
DSG1 p.Ala129Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Arg219Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Asn543Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Asp116Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Cys589Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Cys699Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Cys736Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Glu724Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Glu942Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DSG1 p.Gly687Arg Benign/Likely benign Multiple submitters
- DSG1 p.Gly740Arg Uncertain significance Multiple submitters
-
DSG1 p.Gly764Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Gly978Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Gly998Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Ile125Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Ile52Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Ile739Thr
Benign/Likely benign
Multiple submitters
palmoplantar keratoderma i, striate, focal, or diffuse
-
DSG1 p.Leu719Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Met221Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DSG1 p.Ser728Ala Uncertain significance Multiple submitters
-
DSG1 p.Ser762Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Thr806Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG1 p.Val862Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DSG1 p.Ala355Val Uncertain significance Single submitter
- DSG1 p.Ala55Ser Uncertain significance Single submitter
- DSG1 p.Ala57Thr Uncertain significance Single submitter
-
DSG1 p.Ala706Thr
Conflicting
Single submitter
Inborn genetic diseases
-
DSG1 p.Ala71Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- DSG1 p.Ala759Val Uncertain significance Single submitter
- DSG1 p.Arg242Gln Uncertain significance Single submitter
-
DSG1 p.Arg26Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- DSG1 p.Arg386Gly Uncertain significance Single submitter
- DSG1 p.Arg422Lys Uncertain significance Single submitter
-
DSG1 p.Arg46Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- DSG1 p.Arg59His Uncertain significance Single submitter
- DSG1 p.Arg678Ile Uncertain significance Single submitter
- DSG1 p.Arg86Cys Uncertain significance Single submitter
-
DSG1 p.Asn188Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DSG1 p.Asn323Ser Uncertain significance Single submitter
- DSG1 p.Asp261Asn Uncertain significance Single submitter
- DSG1 p.Asp411Asn Uncertain significance Single submitter
- DSG1 p.Asp469Gly Uncertain significance Single submitter
- DSG1 p.Asp707Gly Uncertain significance Single submitter
- DSG1 p.Asp709Val Uncertain significance Single submitter
- DSG1 p.Asp716Glu Uncertain significance Single submitter
- DSG1 p.Asp722Gly Uncertain significance Single submitter
- DSG1 p.Asp828His Uncertain significance Single submitter
- DSG1 p.Asp855Tyr Uncertain significance Single submitter
-
DSG1 p.Cys684Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- DSG1 p.Gln452His Uncertain significance Single submitter
- DSG1 p.Gln461His Uncertain significance Single submitter
- DSG1 p.Glu142Ala Uncertain significance Single submitter
- DSG1 p.Glu451Lys Uncertain significance Single submitter
- DSG1 p.Glu839Lys Likely benign Single submitter
- DSG1 p.Glu953Asp Uncertain significance Single submitter
- DSG1 p.Gly1002Asp Uncertain significance Single submitter
- DSG1 p.Gly245Arg Uncertain significance Single submitter
- DSG1 p.Gly315Arg Uncertain significance Single submitter
- DSG1 p.Gly350Val Uncertain significance Single submitter
- DSG1 p.Gly37Val Uncertain significance Single submitter
- DSG1 p.Gly731Ser Uncertain significance Single submitter
-
DSG1 p.Gly734Cys
Conflicting
Single submitter
Inborn genetic diseases
-
DSG1 p.Gly833Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- DSG1 p.Gly879Arg Uncertain significance Single submitter
- DSG1 p.Gly972Asp Uncertain significance Single submitter
- DSG1 p.Gly975Cys Uncertain significance Single submitter
- DSG1 p.Gly993Glu Uncertain significance Single submitter
- DSG1 p.Gly995Asp Uncertain significance Single submitter
- DSG1 p.Ile114Thr Uncertain significance Single submitter
- DSG1 p.Ile166Met Uncertain significance Single submitter
- DSG1 p.Ile194Leu Uncertain significance Single submitter
- DSG1 p.Ile278Ser Uncertain significance Single submitter
- DSG1 p.Ile361Met Uncertain significance Single submitter
- DSG1 p.Ile761Phe Uncertain significance Single submitter
- DSG1 p.Ile899Thr Uncertain significance Single submitter
- DSG1 p.Ile974Lys Uncertain significance Single submitter
- DSG1 p.Leu143Phe Uncertain significance Single submitter
- DSG1 p.Leu283Pro Uncertain significance Single submitter
-
DSG1 p.Leu288His
Uncertain significance
Single submitter
Inborn genetic diseases
- DSG1 p.Leu465Phe Uncertain significance Single submitter
-
DSG1 p.Leu465Val
Uncertain significance
Single submitter
Inborn genetic diseases
- DSG1 p.Leu719Phe Uncertain significance Single submitter
- DSG1 p.Leu748Phe Uncertain significance Single submitter
- DSG1 p.Leu881Ser Uncertain significance Single submitter
- DSG1 p.Lys1041Asn Uncertain significance Single submitter
- DSG1 p.Met177Val Uncertain significance Single submitter
- DSG1 p.Met691Arg Uncertain significance Single submitter
-
DSG1 p.Met883Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- DSG1 p.Phe162Leu Uncertain significance Single submitter
- DSG1 p.Phe25Val Uncertain significance Single submitter
- DSG1 p.Phe54Leu Uncertain significance Single submitter
- DSG1 p.Pro121Ser Uncertain significance Single submitter
- DSG1 p.Pro187Leu Uncertain significance Single submitter
- DSG1 p.Pro387Arg Uncertain significance Single submitter
- DSG1 p.Pro753Ser Uncertain significance Single submitter
- DSG1 p.Ser1011Arg Uncertain significance Single submitter
- DSG1 p.Ser370Pro Uncertain significance Single submitter
- DSG1 p.Ser418Pro Uncertain significance Single submitter
- DSG1 p.Ser737Asn Uncertain significance Single submitter
- DSG1 p.Ser762Arg Uncertain significance Single submitter
- DSG1 p.Ser903Cys Uncertain significance Single submitter
- DSG1 p.Ser977Asn Uncertain significance Single submitter
- DSG1 p.Thr182Ala Uncertain significance Single submitter
-
DSG1 p.Trp41Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- DSG1 p.Tyr274His Uncertain significance Single submitter
- DSG1 p.Tyr365His Uncertain significance Single submitter
- DSG1 p.Tyr392Cys Uncertain significance Single submitter
- DSG1 p.Val115Ala Uncertain significance Single submitter
- DSG1 p.Val292Ala Uncertain significance Single submitter
- DSG1 p.Val328Ala Uncertain significance Single submitter
- DSG1 p.Val394Ala Uncertain significance Single submitter
- DSG1 p.Val920Met Uncertain significance Single submitter
All DSG1 variants
Pathogenic 29
- p.Arg128Ter Multiple submitters
- p.Arg144Ter Multiple submitters epidermal disease
- p.Arg219Ter Multiple submitters severe dermatitis-multiple allergies-metabolic wasting syndrome
- p.Arg242Ter Multiple submitters palmoplantar keratoderma i, striate, focal, or diffuse
- p.Arg26Ter Multiple submitters DSG1-related disorders
- p.Ser132Ter Multiple submitters palmoplantar keratoderma i, striate, focal, or diffuse
- p.Arg325fs Single submitter
- p.Arg857Ter Single submitter
- p.Asp591fs Single submitter
- p.Cys58Ter Single submitter
- p.Gln603Ter Single submitter
- p.Gln94Ter Single submitter DSG1-related disorder
- p.Glu451Ter Single submitter
- p.Ile826fs Single submitter
- p.Leu16fs Single submitter
- p.Lys335fs Single submitter
- p.Phe407fs Single submitter
- p.Ser113fs Single submitter
- p.Ser75Ter Single submitter
- p.Thr106fs Single submitter
- p.Thr174fs Single submitter
- p.Tyr274Ter Single submitter
- c.49-1G>A No assertion criteria severe dermatitis-multiple allergies-metabolic wasting syndrome
- c.85-1G>A No assertion criteria palmoplantar keratoderma i, striate, focal, or diffuse
- p.Ala621fs No assertion criteria severe dermatitis-multiple allergies-metabolic wasting syndrome
- p.Asn543fs No assertion criteria palmoplantar keratoderma i, striate, focal, or diffuse
- p.Gln201Ter No assertion criteria palmoplantar keratoderma i, striate, focal, or diffuse
- p.Ile361fs No assertion criteria palmoplantar keratoderma i, striate, focal, or diffuse
- p.Trp41fs No assertion criteria palmoplantar keratoderma i, striate, focal, or diffuse
Pathogenic/Likely pathogenic 3
- p.Arg45Ter Multiple submitters palmoplantar keratoderma i, striate, focal, or diffuse
- p.Arg887Ter Multiple submitters severe dermatitis-multiple allergies-metabolic wasting syndrome
- p.Gln81Ter Multiple submitters DSG1-related disorders
Likely pathogenic 17
- c.1688-2A>C Single submitter
- c.1822-8T>G Single submitter severe dermatitis-multiple allergies-metabolic wasting syndrome
- c.2100+1G>T Single submitter severe dermatitis-multiple allergies-metabolic wasting syndrome
- c.217-1G>A Single submitter
- c.49-2A>T Single submitter palmoplantar keratoderma i, striate, focal, or diffuse
- c.684+1G>A Single submitter Abnormality of the skin
- c.820-1G>C Single submitter palmoplantar keratoderma i, striate, focal, or diffuse
- p.Gln364Ter Single submitter DSG1-related disorders
- p.Glu649_Arg650insTer Single submitter palmoplantar keratoderma i, striate, focal, or diffuse
- p.Gly396fs Single submitter DSG1-related disorders
- p.Pro901fs Single submitter
- p.Ser113_Ile114insTer Single submitter DSG1-related disorders
- p.Ser680_Met681insTer Single submitter DSG1-related disorder
- p.Tyr392Ter Single submitter hereditary palmoplantar keratoderma
- p.Tyr85Ter Single submitter DSG1-related disorders
- c.1892delG No assertion criteria palmoplantar keratoderma i, striate, focal, or diffuse
- p.Glu202Ter No assertion criteria hereditary palmoplantar keratoderma
Conflicting classifications of pathogenicity 15
- p.Ala706Thr Single submitter Inborn genetic diseases ⚠
- p.Ala875Thr Single submitter Inborn genetic diseases ⚠
- p.Arg422= Single submitter Inborn genetic diseases
- p.Asn256Ser Single submitter Inborn genetic diseases ⚠
- p.Asp406Glu Single submitter Inborn genetic diseases ⚠
- p.Asp855Asn Single submitter Inborn genetic diseases ⚠
- p.Gly562Arg Single submitter palmoplantar keratoderma i, striate, focal, or diffuse ⚠
- p.Gly734Cys Single submitter Inborn genetic diseases ⚠
- p.Leu287Phe Single submitter ⚠
- p.Leu943Ser Single submitter
- p.Met984Val Single submitter Inborn genetic diseases ⚠
- p.Pro829Ser Single submitter Inborn genetic diseases
- p.Ser931Pro Single submitter Inborn genetic diseases ⚠
- p.Val792Ile Single submitter Inborn genetic diseases ⚠
- p.Val961Ile Single submitter Inborn genetic diseases ⚠
Benign 65
- c.1006-27G>A Multiple submitters
- c.1265+73A>G Multiple submitters
- c.1406-49C>A Multiple submitters
- c.1687+93C>T Multiple submitters
- c.1891+25A>C Multiple submitters
- c.1891+26T>A Multiple submitters
- c.2101-173A>G Multiple submitters
- c.2101-177C>T Multiple submitters
- c.2101-186G>A Multiple submitters
- c.216+128C>T Multiple submitters
- c.217-62G>A Multiple submitters
- c.49-83G>A Multiple submitters
- c.49-84T>C Multiple submitters
- c.518-58C>T Multiple submitters
- c.819+24A>G Multiple submitters
- c.-63A>G Multiple submitters
- c.*66C>T Multiple submitters
- p.Asn493Thr Multiple submitters
- p.Asp538Asn Multiple submitters
- p.Asp707Glu Multiple submitters
- p.Asp772Asn Multiple submitters
- p.Gln81His Multiple submitters
- p.Gly1008Glu Multiple submitters
- p.Gly244= Multiple submitters severe dermatitis-multiple allergies-metabolic wasting syndrome
- p.His852= Multiple submitters
- p.Ile613Met Multiple submitters
- p.Leu821Gln Multiple submitters
- p.Lys537Arg Multiple submitters
- p.Met11Val Multiple submitters severe dermatitis-multiple allergies-metabolic wasting syndrome
- p.Pro713= Multiple submitters
- p.Ser938= Multiple submitters
- p.Ser988= Multiple submitters
- p.Thr395Ser Multiple submitters
- p.Thr498Asn Multiple submitters
- p.Tyr528Ser Multiple submitters
- p.Tyr841Phe Multiple submitters severe dermatitis-multiple allergies-metabolic wasting syndrome
- c.1005+128AT[4] Single submitter
- c.1005+211G>A Single submitter
- c.1006-135G>A Single submitter
- c.1006-196G>C Single submitter
- c.1006-248C>T Single submitter
- c.1006-298C>A Single submitter
- c.1006-314C>T Single submitter
- c.1006-87_1006-86insAT Single submitter
- c.1266-193A>G Single submitter
- c.1266-73C>A Single submitter
- c.1266-73del Single submitter
- c.1405+211C>T Single submitter
- c.1406-273C>T Single submitter
- c.1687+11del Single submitter
- c.1687+288G>A Single submitter
- c.1891+243A>T Single submitter
- c.216+258T>G Single submitter
- c.372+235T>C Single submitter
- c.373-10del Single submitter
- c.48+256G>A Single submitter
- c.517+293G>C Single submitter
- c.518-216A>T Single submitter
- c.684+212G>A Single submitter
- c.819+125T>C Single submitter
- c.819+12T>C Single submitter
- p.Arg1016= Single submitter
- p.Glu667= Single submitter
- p.Gly972Ser Single submitter
- p.Leu827= Single submitter
Benign/Likely benign 15
- c.1406-4A>G Multiple submitters
- c.2100+11T>C Multiple submitters
- c.684+19G>A Multiple submitters
- p.Arg712Cys Multiple submitters
- p.Gly687Arg Multiple submitters ⚠
- p.Ile14Phe Multiple submitters severe dermatitis-multiple allergies-metabolic wasting syndrome
- p.Ile739Thr Multiple submitters palmoplantar keratoderma i, striate, focal, or diffuse ⚠
- p.Ile739Val Multiple submitters
- p.Leu539Val Multiple submitters severe dermatitis-multiple allergies-metabolic wasting syndrome
- p.Lys824= Multiple submitters
- p.Phe123= Multiple submitters
- p.Pro871= Multiple submitters
- p.Ser521= Multiple submitters
- p.Ser774= Multiple submitters
- p.Tyr705= Multiple submitters
Likely benign 280
- c.217-8T>C Multiple submitters
- p.Arg682= Multiple submitters
- p.Gly601= Multiple submitters
- p.Gly870= Multiple submitters
- p.Gly874= Multiple submitters
- p.Gly960= Multiple submitters
- p.His796= Multiple submitters
- p.His854= Multiple submitters
- p.Ile723= Multiple submitters
- p.Leu821= Multiple submitters
- p.Phe385= Multiple submitters
- p.Pro187= Multiple submitters
- p.Pro602= Multiple submitters
- p.Pro941= Multiple submitters
- p.Ser360= Multiple submitters
- p.Ser890= Multiple submitters
- p.Ser971= Multiple submitters
- p.Thr419= Multiple submitters
- p.Thr610= Multiple submitters
- p.Tyr230= Multiple submitters
- p.Tyr721= Multiple submitters
- p.Tyr841= Multiple submitters
- p.Val853Ile Multiple submitters
- c.1005+14A>G Single submitter
- c.1005+15T>A Single submitter
- c.1005+8A>G Single submitter
- c.1006-11G>T Single submitter
- c.1006-12T>C Single submitter
- c.1006-15C>T Single submitter
- c.1006-6_1006-3dup Single submitter
- c.1006-8T>C Single submitter
- c.1006-9A>G Single submitter
- c.1265+13T>C Single submitter
- c.1265+17C>T Single submitter
- c.1265+19A>C Single submitter
- c.1265+19A>G Single submitter
- c.1265+20C>A Single submitter
- c.1266-13C>G Single submitter
- c.1266-16T>C Single submitter
- c.1266-17T>C Single submitter
- c.1405+13T>A Single submitter
- c.1405+13T>C Single submitter
- c.1405+18A>G Single submitter
- c.1406-10G>A Single submitter
- c.1406-11C>T Single submitter
- c.1406-16T>G Single submitter
- c.1406-18T>C Single submitter
- c.1406-5T>A Single submitter
- c.1406-7A>G Single submitter
- c.1687+11T>C Single submitter
- c.1687+19C>G Single submitter
- c.1687+8C>T Single submitter
- c.1688-10C>T Single submitter
- c.1688-11T>C Single submitter
- c.1688-8A>G Single submitter
- c.1821+10A>G Single submitter
- c.1821+11C>T Single submitter
- c.1821+12A>G Single submitter
- c.1821+18del Single submitter
- c.1821+20A>T Single submitter
- c.1822-16G>A Single submitter
- c.1822-18T>C Single submitter
- c.1822-20T>A Single submitter
- c.1891+11A>G Single submitter
- c.1891+20T>C Single submitter
- c.1891+7A>G Single submitter
- c.1892-15G>C Single submitter
- c.1892-19A>G Single submitter
- c.2100+8C>G Single submitter
- c.2101-13C>T Single submitter
- c.2101-15C>G Single submitter
- c.2101-16T>C Single submitter
- c.2101-20T>C Single submitter
- c.216+11A>G Single submitter
- c.216+20C>A Single submitter
- c.216+7A>G Single submitter
- c.217-12T>C Single submitter
- c.217-13G>C Single submitter
- c.217-18C>T Single submitter
- c.217-9C>T Single submitter
- c.372+14A>G Single submitter
- c.372+15T>A Single submitter
- c.372+15T>C Single submitter
- c.373-19T>C Single submitter
- c.373-4C>G Single submitter
- c.373-4C>T Single submitter
- c.48+12C>T Single submitter
- c.48+16T>C Single submitter
- c.48+19A>C Single submitter
- c.48+7G>A Single submitter
- c.48+8G>T Single submitter
- c.49-16A>G Single submitter
- c.517+20C>T Single submitter
- c.517+8A>T Single submitter
- c.517+9T>G Single submitter
- c.518-13C>T Single submitter
- c.684+10T>C Single submitter
- c.684+16T>C Single submitter
- c.684+17A>T Single submitter
- c.684+18A>G Single submitter
- c.684+20T>C Single submitter
- c.684+20T>G Single submitter
- c.684+7C>A Single submitter
- c.685-10G>C Single submitter
- c.685-14A>C Single submitter
- c.685-17G>A Single submitter
- c.685-5T>C Single submitter
- c.685-9T>C Single submitter
- c.819+10T>A Single submitter
- c.819+11G>A Single submitter
- c.819+16T>C Single submitter
- c.819+18G>C Single submitter
- c.820-3C>T Single submitter
- c.84+14A>T Single submitter
- c.84+19A>G Single submitter
- c.84+9T>C Single submitter
- c.85-16A>G Single submitter
- c.85-20C>A Single submitter
- c.85-20C>T Single submitter
- c.85-7A>C Single submitter
- p.Ala10= Single submitter
- p.Ala181= Single submitter
- p.Ala251= Single submitter
- p.Ala369= Single submitter
- p.Ala55= Single submitter
- p.Ala57= Single submitter
- p.Ala581= Single submitter
- p.Ala581Thr Single submitter
- p.Ala859= Single submitter
- p.Ala900= Single submitter
- p.Ala990= Single submitter
- p.Arg1036= Single submitter
- p.Arg144= Single submitter
- p.Arg200= Single submitter
- p.Arg242= Single submitter
- p.Arg26= Single submitter
- p.Arg386= Single submitter
- p.Arg438= Single submitter
- p.Arg954= Single submitter
- p.Asn171= Single submitter
- p.Asn191= Single submitter
- p.Asn263= Single submitter
- p.Asn327= Single submitter
- p.Asn534= Single submitter
- p.Asn620= Single submitter
- p.Asn861= Single submitter
- p.Asn948= Single submitter
- p.Asp183= Single submitter
- p.Asp247= Single submitter
- p.Asp402= Single submitter
- p.Asp406= Single submitter
- p.Asp489= Single submitter
- p.Asp619= Single submitter
- p.Asp707= Single submitter
- p.Asp716= Single submitter
- p.Asp770= Single submitter
- p.Cys475= Single submitter
- p.Cys573= Single submitter
- p.Cys735= Single submitter
- p.Gln787= Single submitter
- p.Glu186= Single submitter
- p.Glu451= Single submitter
- p.Glu649= Single submitter
- p.Glu741= Single submitter
- p.Glu790= Single submitter
- p.Glu811= Single submitter
- p.Glu839Lys Single submitter ⚠
- p.Glu896= Single submitter
- p.Gly1028= Single submitter
- p.Gly107= Single submitter
- p.Gly134= Single submitter
- p.Gly231= Single submitter
- p.Gly399= Single submitter
- p.Gly477= Single submitter
- p.Gly574= Single submitter
- p.Gly61= Single submitter
- p.Gly711= Single submitter
- p.Gly727= Single submitter
- p.Gly731= Single submitter
- p.Gly819= Single submitter
- p.Gly870= Single submitter
- p.Gly932= Single submitter
- p.Gly935= Single submitter
- p.Gly978= Single submitter
- p.Gly998= Single submitter
- p.His1014= Single submitter
- p.Ile211Thr Single submitter
- p.Ile276= Single submitter
- p.Ile276Val Single submitter Inborn genetic diseases
- p.Ile307= Single submitter
- p.Ile555= Single submitter
- p.Ile616= Single submitter
- p.Ile70= Single submitter
- p.Ile73= Single submitter
- p.Ile911= Single submitter
- p.Ile950= Single submitter
- p.Leu1003= Single submitter
- p.Leu12= Single submitter
- p.Leu175= Single submitter
- p.Leu225= Single submitter
- p.Leu260= Single submitter
- p.Leu287= Single submitter
- p.Leu288= Single submitter
- p.Leu377= Single submitter
- p.Leu456= Single submitter
- p.Leu465= Single submitter
- p.Leu553= Single submitter
- p.Leu656= Single submitter
- p.Leu656= Single submitter
- p.Leu751= Single submitter
- p.Leu763= Single submitter
- p.Leu909= Single submitter
- p.Leu943= Single submitter
- p.Leu979= Single submitter
- p.Leu991= Single submitter
- p.Lys1041= Single submitter
- p.Lys403= Single submitter
- p.Lys66= Single submitter
- p.Phe309= Single submitter
- p.Phe54= Single submitter
- p.Phe747= Single submitter
- p.Phe803= Single submitter
- p.Pro1032= Single submitter
- p.Pro121= Single submitter
- p.Pro496= Single submitter
- p.Pro532= Single submitter
- p.Pro587= Single submitter
- p.Pro769= Single submitter
- p.Pro791= Single submitter
- p.Pro818= Single submitter
- p.Pro823= Single submitter
- p.Pro849= Single submitter
- p.Ser1011= Single submitter
- p.Ser1018= Single submitter
- p.Ser1029= Single submitter
- p.Ser113= Single submitter
- p.Ser170= Single submitter
- p.Ser737= Single submitter
- p.Ser794= Single submitter
- p.Ser816= Single submitter
- p.Ser850= Single submitter
- p.Ser850Ala Single submitter
- p.Ser890= Single submitter
- p.Ser931= Single submitter
- p.Thr1044= Single submitter
- p.Thr182= Single submitter
- p.Thr215= Single submitter
- p.Thr220= Single submitter
- p.Thr391= Single submitter
- p.Thr420= Single submitter
- p.Thr463= Single submitter
- p.Thr476= Single submitter
- p.Thr498= Single submitter
- p.Thr501= Single submitter
- p.Thr517= Single submitter
- p.Thr652= Single submitter
- p.Thr750= Single submitter
- p.Thr807= Single submitter
- p.Thr838= Single submitter
- p.Thr838= Single submitter
- p.Thr842= Single submitter
- p.Thr843= Single submitter
- p.Thr923= Single submitter
- p.Tyr268= Single submitter
- p.Tyr365= Single submitter
- p.Tyr460= Single submitter
- p.Val156= Single submitter
- p.Val29= Single submitter
- p.Val328= Single submitter
- p.Val564= Single submitter
- p.Val83= Single submitter
- p.Val863= Single submitter
- p.Val868= Single submitter
- p.Val869= Single submitter
- p.Val894= Single submitter
- p.Val9= Single submitter
- p.Val920= Single submitter
- p.Val922= Single submitter
- p.Val980= Single submitter
- c.-8C>A No assertion criteria DSG1-related disorder
Uncertain significance 529
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala129Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala341Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala369Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala621Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ala79Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg1016Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1036Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1038Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg139Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg219Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg386His Multiple submitters Inborn genetic diseases ⚠
- p.Arg578His Multiple submitters Inborn genetic diseases ⚠
- p.Arg712His Multiple submitters Inborn genetic diseases ⚠
- p.Arg857Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg887Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg897Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asn263Ser Multiple submitters palmoplantar keratoderma i, striate, focal, or diffuse ⚠
- p.Asn353His Multiple submitters ⚠
- p.Asn482Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asn543Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asp116Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp490Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp745Gly Multiple submitters Inborn genetic diseases ⚠
- p.Cys589Arg Multiple submitters Inborn genetic diseases ⚠
- p.Cys589Gly Multiple submitters Inborn genetic diseases ⚠
- p.Cys699Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Cys736Phe Multiple submitters Inborn genetic diseases ⚠
- p.Glu356Ala Multiple submitters Inborn genetic diseases ⚠
- p.Glu600Gly Multiple submitters Inborn genetic diseases
- p.Glu625Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu667Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu724Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu942Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu953Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gly216Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly245Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly505Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly647Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly727Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly740Arg Multiple submitters ⚠
- p.Gly764Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly795Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly804Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly870Ser Multiple submitters ⚠
- p.Gly932Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly960Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly978Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly978Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly989Cys Multiple submitters Inborn genetic diseases ⚠
- p.Gly989Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly998Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ile1027Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile1027Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile125Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ile349Thr Multiple submitters DSG1-related disorder ⚠
- p.Ile361Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile52Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ile551Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile720Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile723Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile996Met Multiple submitters Inborn genetic diseases ⚠
- p.Leu719Arg Multiple submitters Inborn genetic diseases ⚠
- p.Leu785His Multiple submitters Inborn genetic diseases ⚠
- p.Met221Ile Multiple submitters Inborn genetic diseases ⚠
- p.Pro154Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro154Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro417His Multiple submitters ⚠
- p.Pro577Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro618Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro798Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser485Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser521Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser673Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ser728Ala Multiple submitters ⚠
- p.Ser762Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser794Ile Multiple submitters Inborn genetic diseases ⚠
- p.Ser812Asn Multiple submitters ⚠
- p.Ser816Trp Multiple submitters Inborn genetic diseases
- p.Thr106Ser Multiple submitters
- p.Thr34Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr610Asn Multiple submitters Inborn genetic diseases ⚠
- p.Thr806Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr813Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr846Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr923Arg Multiple submitters ⚠
- p.Val1045Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val1045Met Multiple submitters severe dermatitis-multiple allergies-metabolic wasting syndrome ⚠
- p.Val527Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val564Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val660Asp Multiple submitters Inborn genetic diseases ⚠
- p.Val808Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val862Met Multiple submitters Inborn genetic diseases ⚠
- c.1005+4T>G Single submitter
- c.1005+6G>C Single submitter
- c.1005+6G>T Single submitter
- c.1006-12T>A Single submitter
- c.1266-3C>T Single submitter
- c.1891+5G>A Single submitter
- c.1891+6A>C Single submitter
- c.1892-10A>G Single submitter
- c.2100+5G>T Single submitter
- c.216+4G>A Single submitter
- c.48+3G>C Single submitter
- c.49-3C>T Single submitter
- c.517+5G>A Single submitter
- c.684+16_684+17insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATTCTTTTTCTTT Single submitter
- c.684+3A>C Single submitter
- c.684+4A>G Single submitter
- c.684+6T>C Single submitter
- c.685-3T>A Single submitter severe dermatitis-multiple allergies-metabolic wasting syndrome
- c.820-5T>C Single submitter
- c.820-9T>G Single submitter
- p.Ala1030Thr Single submitter ⚠
- p.Ala160Thr Single submitter ⚠
- p.Ala163Val Single submitter ⚠
- p.Ala184Thr Single submitter ⚠
- p.Ala251Val Single submitter ⚠
- p.Ala341Val Single submitter ⚠
- p.Ala355Val Single submitter ⚠
- p.Ala409Thr Single submitter ⚠
- p.Ala536Asp Single submitter ⚠
- p.Ala536Pro Single submitter ⚠
- p.Ala549Thr Single submitter
- p.Ala55Ser Single submitter ⚠
- p.Ala57Thr Single submitter ⚠
- p.Ala593Thr Single submitter ⚠
- p.Ala621Thr Single submitter ⚠
- p.Ala704Gly Single submitter
- p.Ala71Thr Single submitter Inborn genetic diseases ⚠
- p.Ala759Val Single submitter ⚠
- p.Ala900_Leu905del Single submitter
- p.Ala959Ser Single submitter ⚠
- p.Ala986Thr Single submitter ⚠
- p.Ala986Val Single submitter ⚠
- p.Ala994Val Single submitter ⚠
- p.Arg1036Leu Single submitter ⚠
- p.Arg1036Ter Single submitter
- p.Arg1038Ter Single submitter
- p.Arg117Gln Single submitter ⚠
- p.Arg128Gln Single submitter ⚠
- p.Arg227Lys Single submitter ⚠
- p.Arg242Gln Single submitter ⚠
- p.Arg26Gln Single submitter ⚠
- p.Arg26Pro Single submitter Inborn genetic diseases ⚠
- p.Arg291Lys Single submitter ⚠
- p.Arg386Cys Single submitter ⚠
- p.Arg386Gly Single submitter ⚠
- p.Arg416= Single submitter
- p.Arg422Lys Single submitter ⚠
- p.Arg438Ser Single submitter ⚠
- p.Arg45Gln Single submitter ⚠
- p.Arg46Lys Single submitter Inborn genetic diseases ⚠
- p.Arg491Ser Single submitter ⚠
- p.Arg49Leu Single submitter ⚠
- p.Arg578Cys Single submitter ⚠
- p.Arg59Cys Single submitter ⚠
- p.Arg59His Single submitter ⚠
- p.Arg678Ile Single submitter ⚠
- p.Arg685= Single submitter
- p.Arg685Gly Single submitter Inborn genetic diseases
- p.Arg712Cys Single submitter
- p.Arg7Gly Single submitter ⚠
- p.Arg867Thr Single submitter Inborn genetic diseases ⚠
- p.Arg86Cys Single submitter ⚠
- p.Arg86His Single submitter ⚠
- p.Arg915Thr Single submitter ⚠
- p.Arg954Trp Single submitter Inborn genetic diseases ⚠
- p.Asn1024Thr Single submitter ⚠
- p.Asn103Asp Single submitter Inborn genetic diseases ⚠
- p.Asn171Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn188Ser Single submitter Inborn genetic diseases ⚠
- p.Asn223Ser Single submitter ⚠
- p.Asn323Ser Single submitter ⚠
- p.Asn33Asp Single submitter Inborn genetic diseases ⚠
- p.Asn33Ser Single submitter Inborn genetic diseases ⚠
- p.Asn480Asp Single submitter ⚠
- p.Asn493Ala Single submitter
- p.Asn497Ser Single submitter ⚠
- p.Asn503Asp Single submitter ⚠
- p.Asn534Lys Single submitter ⚠
- p.Asn534Ser Single submitter Inborn genetic diseases ⚠
- p.Asn80Thr Single submitter ⚠
- p.Asn834Ile Single submitter ⚠
- p.Asn945Lys Single submitter ⚠
- p.Asn945Ser Single submitter ⚠
- p.Asp185Glu Single submitter Inborn genetic diseases ⚠
- p.Asp205Tyr Single submitter ⚠
- p.Asp226Glu Single submitter ⚠
- p.Asp226Gly Single submitter ⚠
- p.Asp247Gly Single submitter ⚠
- p.Asp261Asn Single submitter ⚠
- p.Asp2His Single submitter ⚠
- p.Asp411Asn Single submitter ⚠
- p.Asp431Gly Single submitter Inborn genetic diseases ⚠
- p.Asp469Gly Single submitter ⚠
- p.Asp490Asn Single submitter ⚠
- p.Asp523Asn Single submitter ⚠
- p.Asp542Gly Single submitter ⚠
- p.Asp572Asn Single submitter ⚠
- p.Asp591Gly Single submitter ⚠
- p.Asp591Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp608Tyr Single submitter ⚠
- p.Asp628Gly Single submitter ⚠
- p.Asp707Gly Single submitter ⚠
- p.Asp709Val Single submitter ⚠
- p.Asp716Glu Single submitter ⚠
- p.Asp722Gly Single submitter ⚠
- p.Asp722Val Single submitter ⚠
- p.Asp742Asn Single submitter
- p.Asp745Asn Single submitter ⚠
- p.Asp770Asn Single submitter ⚠
- p.Asp828Asn Single submitter ⚠
- p.Asp828His Single submitter ⚠
- p.Asp855Glu Single submitter ⚠
- p.Asp855Tyr Single submitter ⚠
- p.Asp876Val Single submitter ⚠
- p.Cys253Gly Single submitter ⚠
- p.Cys626Arg Single submitter ⚠
- p.Cys626Phe Single submitter ⚠
- p.Cys626Tyr Single submitter ⚠
- p.Cys684= Single submitter
- p.Cys684Arg Single submitter Inborn genetic diseases ⚠
- p.Gln1025Glu Single submitter ⚠
- p.Gln1046Lys Single submitter ⚠
- p.Gln201Arg Single submitter ⚠
- p.Gln271Glu Single submitter ⚠
- p.Gln343Arg Single submitter ⚠
- p.Gln452His Single submitter ⚠
- p.Gln461His Single submitter ⚠
- p.Gln670Arg Single submitter ⚠
- p.Gln700Lys Single submitter
- p.Gln778Glu Single submitter ⚠
- p.Gln82Arg Single submitter ⚠
- p.Gln928Pro Single submitter ⚠
- p.Glu142Ala Single submitter ⚠
- p.Glu228Lys Single submitter ⚠
- p.Glu254Lys Single submitter ⚠
- p.Glu270Lys Single submitter ⚠
- p.Glu277Lys Single submitter ⚠
- p.Glu289Lys Single submitter ⚠
- p.Glu319Ala Single submitter Inborn genetic diseases ⚠
- p.Glu451Lys Single submitter ⚠
- p.Glu495Lys Single submitter ⚠
- p.Glu531Gly Single submitter ⚠
- p.Glu588Gln Single submitter ⚠
- p.Glu588Lys Single submitter ⚠
- p.Glu625Gly Single submitter ⚠
- p.Glu636Gln Single submitter ⚠
- p.Glu671Gln Single submitter ⚠
- p.Glu781Gly Single submitter ⚠
- p.Glu790Ala Single submitter ⚠
- p.Glu811Asp Single submitter
- p.Glu866Lys Single submitter ⚠
- p.Glu896Gly Single submitter ⚠
- p.Glu896Lys Single submitter ⚠
- p.Glu916Gly Single submitter ⚠
- p.Glu924_Arg925insTer Single submitter palmoplantar keratoderma i, striate, focal, or diffuse
- p.Glu924Ala Single submitter ⚠
- p.Glu942Ter Single submitter
- p.Glu953_Arg954delinsAspTrp Single submitter
- p.Glu953Asp Single submitter ⚠
- p.Gly1002Asp Single submitter ⚠
- p.Gly1007Arg Single submitter ⚠
- p.Gly231Asp Single submitter ⚠
- p.Gly231Ser Single submitter ⚠
- p.Gly244Asp Single submitter ⚠
- p.Gly245Arg Single submitter ⚠
- p.Gly248Val Single submitter ⚠
- p.Gly315Arg Single submitter ⚠
- p.Gly315Val Single submitter ⚠
- p.Gly350Val Single submitter ⚠
- p.Gly37Asp Single submitter Inborn genetic diseases ⚠
- p.Gly37Val Single submitter ⚠
- p.Gly388Ala Single submitter ⚠
- p.Gly415Arg Single submitter ⚠
- p.Gly457Arg Single submitter ⚠
- p.Gly458= Single submitter
- p.Gly533Arg Single submitter ⚠
- p.Gly639Ser Single submitter ⚠
- p.Gly639Val Single submitter ⚠
- p.Gly647Val Single submitter ⚠
- p.Gly648Arg Single submitter ⚠
- p.Gly659= Single submitter
- p.Gly664Arg Single submitter ⚠
- p.Gly664Val Single submitter ⚠
- p.Gly687Glu Single submitter ⚠
- p.Gly731Ser Single submitter ⚠
- p.Gly833Asp Single submitter Inborn genetic diseases ⚠
- p.Gly879Arg Single submitter ⚠
- p.Gly89Val Single submitter Inborn genetic diseases ⚠
- p.Gly935Ser Single submitter ⚠
- p.Gly972Asp Single submitter ⚠
- p.Gly975Cys Single submitter ⚠
- p.Gly975Ser Single submitter ⚠
- p.Gly985Cys Single submitter ⚠
- p.Gly985Val Single submitter ⚠
- p.Gly987Arg Single submitter ⚠
- p.Gly993Glu Single submitter ⚠
- p.Gly995Asp Single submitter ⚠
- p.Gly998Arg Single submitter ⚠