EDARADD — 172 ClinVar variants
All ClinVar germline EDARADD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →
7 Pathogenic · 8 Likely pathogenic · 2 Conflicting · 39 Benign · 11 Benign/Likely benign · 17 Likely benign · 88 Uncertain significance
Full EDARADD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 52
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
EDARADD p.Asn39Asp
Conflicting
Single submitter
Inborn genetic diseases
-
EDARADD p.Pro131Leu
Conflicting
Single submitter
ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
Predictors lean, ClinVar uncertain 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
EDARADD p.Arg196His
Uncertain significance
Multiple submitters
hypohidrotic ectodermal dysplasia
-
EDARADD p.Asp120His
Uncertain significance
Multiple submitters
ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
-
EDARADD p.Gln8Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EDARADD p.Gly74Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EDARADD p.Arg108Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
EDARADD p.Arg108Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
EDARADD p.Arg206Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
EDARADD p.Arg208His
Uncertain significance
Single submitter
Inborn genetic diseases
-
EDARADD p.Asn117Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
EDARADD p.Asn67Tyr
Uncertain significance
Single submitter
ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
-
EDARADD p.Asp190Asn
Uncertain significance
Single submitter
ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
- EDARADD p.Asp81Val Uncertain significance Single submitter
-
EDARADD p.Asp85Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
EDARADD p.Cys100Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
EDARADD p.Cys102Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
EDARADD p.Glu181Asp
Uncertain significance
Single submitter
ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
-
EDARADD p.Glu201Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- EDARADD p.Glu50Lys Uncertain significance Single submitter
- EDARADD p.Gly147Arg Uncertain significance Single submitter
-
EDARADD p.Gly147Val
Uncertain significance
Single submitter
ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
-
EDARADD p.Gly177Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
EDARADD p.His133Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
EDARADD p.His18Arg
Uncertain significance
Single submitter
ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
-
EDARADD p.His214Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- EDARADD p.Leu122Pro Uncertain significance Single submitter
- EDARADD p.Pro163His Uncertain significance Single submitter
-
EDARADD p.Pro52Ser
Uncertain significance
Single submitter
ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
-
EDARADD p.Ser104Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
EDARADD p.Ser149Phe
Uncertain significance
Single submitter
ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
-
EDARADD p.Ser162Gly
Uncertain significance
Single submitter
ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
-
EDARADD p.Thr101Ile
Uncertain significance
Single submitter
hypohidrotic ectodermal dysplasia
-
EDARADD p.Thr111Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
EDARADD p.Thr35Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
EDARADD p.Tyr150Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
EDARADD p.Tyr150His
Uncertain significance
Single submitter
Inborn genetic diseases
-
EDARADD p.Val124Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
EDARADD p.Val191Leu
Uncertain significance
Single submitter
hypohidrotic ectodermal dysplasia
-
EDARADD p.Val191Met
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 12
The independent predictors disagree with each other — read with care.
-
EDARADD p.Arg170Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EDARADD p.Asp120Ala
Likely pathogenic
Single submitter
ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
-
EDARADD p.Asp123Asn
Likely pathogenic
Single submitter
ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
-
EDARADD p.Asp190Glu
Pathogenic
Single submitter
ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
-
EDARADD p.Asp32Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
EDARADD p.Cys132Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
EDARADD p.Cys154Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
EDARADD p.Glu152Lys
Likely pathogenic
Single submitter
ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
-
EDARADD p.Glu29Lys
Pathogenic
Single submitter
ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
-
EDARADD p.Ser34Asn
Uncertain significance
Single submitter
ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
-
EDARADD p.Thr175Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
EDARADD p.Glu157Lys
Pathogenic
No assertion criteria
ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
All EDARADD variants
Pathogenic 7
- p.Arg66Ter Multiple submitters ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
- p.Asp190Glu Single submitter ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ⚠
- p.Glu29Lys Single submitter ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ⚠
- p.Trp139Ter Single submitter ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
- c.120+1G>A No assertion criteria ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
- p.Glu157Lys No assertion criteria ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ⚠
- p.Leu122Arg No assertion criteria ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
Likely pathogenic 8
- c.61+1G>C Single submitter ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
- p.Asn138Ile Single submitter Tooth agenesis
- p.Asp120Ala Single submitter ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant ⚠
- p.Asp120Val Single submitter ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
- p.Asp123Asn Single submitter ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant ⚠
- p.Asp130Gly Single submitter
- p.Cys183Phe Single submitter ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
- p.Glu152Lys Single submitter ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant ⚠
Conflicting classifications of pathogenicity 2
- p.Asn39Asp Single submitter Inborn genetic diseases ⚠
- p.Pro131Leu Single submitter ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant ⚠
Benign 39
- c.120+7G>A Multiple submitters ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
- c.121-19C>T Multiple submitters ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
- c.160+162T>C Multiple submitters
- c.160+163C>T Multiple submitters
- c.161-129C>T Multiple submitters
- c.161-195C>G Multiple submitters
- c.161-33G>C Multiple submitters ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
- c.161-63C>T Multiple submitters
- c.161-6del Multiple submitters ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
- c.219+66T>G Multiple submitters
- c.61+118G>T Multiple submitters
- c.61+123G>A Multiple submitters
- c.61+1244G>A Multiple submitters
- c.62-127G>A Multiple submitters
- c.62-41A>G Multiple submitters ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
- c.*1174A>G Multiple submitters hypohidrotic ectodermal dysplasia
- c.*1613T>C Multiple submitters hypohidrotic ectodermal dysplasia
- c.*966A>G Multiple submitters hypohidrotic ectodermal dysplasia
- p.Met9Ile Multiple submitters ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
- c.120+270T>G Single submitter
- c.121-210T>C Single submitter
- c.160+169dup Single submitter
- c.160+201G>A Single submitter
- c.160+247G>A Single submitter
- c.161-6dup Single submitter ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
- c.219+253T>A Single submitter
- c.266-127C>T Single submitter
- c.266-221C>T Single submitter
- c.62-129dup Single submitter
- c.62-263T>G Single submitter
- c.*1722C>T Single submitter hypohidrotic ectodermal dysplasia
- c.*1887G>A Single submitter hypohidrotic ectodermal dysplasia
- c.*2078del Single submitter
- c.*2078dup Single submitter
- c.*2113G>A Single submitter
- c.*285G>A Single submitter hypohidrotic ectodermal dysplasia
- c.*417G>A Single submitter hypohidrotic ectodermal dysplasia
- c.*956C>T Single submitter hypohidrotic ectodermal dysplasia
- c.*967A>G Single submitter hypohidrotic ectodermal dysplasia
Benign/Likely benign 11
- c.161-13T>C Multiple submitters hypohidrotic ectodermal dysplasia
- c.-3G>A Multiple submitters hypohidrotic ectodermal dysplasia
- c.*1562T>C Multiple submitters hypohidrotic ectodermal dysplasia
- c.*1593G>T Multiple submitters hypohidrotic ectodermal dysplasia
- c.*1601C>A Multiple submitters hypohidrotic ectodermal dysplasia
- c.*1601C>G Multiple submitters hypohidrotic ectodermal dysplasia
- c.*1787C>T Multiple submitters hypohidrotic ectodermal dysplasia
- p.Asp123= Multiple submitters ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
- p.Glu20= Multiple submitters ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
- p.Pro131= Multiple submitters ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
- p.Ser103Phe Multiple submitters hypohidrotic ectodermal dysplasia
Likely benign 17
- c.61+1091C>T Multiple submitters
- c.*678A>C Multiple submitters ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
- c.*682G>A Multiple submitters ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
- p.Asp200= Multiple submitters hypohidrotic ectodermal dysplasia
- p.Ser82= Multiple submitters
- p.Thr5= Multiple submitters
- c.120+10A>G Single submitter
- c.120+20C>T Single submitter ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
- c.161-17_161-15del Single submitter ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
- c.61+13T>G Single submitter
- c.62-18T>C Single submitter ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
- c.62-19G>A Single submitter
- c.*1438C>T Single submitter hypohidrotic ectodermal dysplasia
- p.Arg208= Single submitter
- p.Asp120= Single submitter
- p.Asp190= Single submitter ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
- p.Thr49= Single submitter ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
Uncertain significance 88
- c.*1962C>T Multiple submitters ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
- c.*863C>T Multiple submitters hypohidrotic ectodermal dysplasia
- p.Arg170Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg196His Multiple submitters hypohidrotic ectodermal dysplasia ⚠
- p.Asp120His Multiple submitters ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant ⚠
- p.Asp120Ile Multiple submitters ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
- p.Gln8Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly74Arg Multiple submitters Inborn genetic diseases ⚠
- c.121-6C>G Single submitter hypohidrotic ectodermal dysplasia
- c.161-2A>G Single submitter
- c.220-15C>T Single submitter hypohidrotic ectodermal dysplasia
- c.*1004G>A Single submitter hypohidrotic ectodermal dysplasia
- c.*100C>T Single submitter hypohidrotic ectodermal dysplasia
- c.*1012A>G Single submitter hypohidrotic ectodermal dysplasia
- c.*1072C>T Single submitter ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
- c.*1149G>A Single submitter hypohidrotic ectodermal dysplasia
- c.*115A>G Single submitter hypohidrotic ectodermal dysplasia
- c.*1250C>T Single submitter hypohidrotic ectodermal dysplasia
- c.*1262C>T Single submitter hypohidrotic ectodermal dysplasia
- c.*12T>C Single submitter hypohidrotic ectodermal dysplasia
- c.*1303T>G Single submitter hypohidrotic ectodermal dysplasia
- c.*1508C>T Single submitter hypohidrotic ectodermal dysplasia
- c.*1535C>T Single submitter hypohidrotic ectodermal dysplasia
- c.*1723G>A Single submitter hypohidrotic ectodermal dysplasia
- c.*1738A>G Single submitter hypohidrotic ectodermal dysplasia
- c.*1788G>A Single submitter hypohidrotic ectodermal dysplasia
- c.*1809C>T Single submitter hypohidrotic ectodermal dysplasia
- c.*1871C>T Single submitter hypohidrotic ectodermal dysplasia
- c.*195G>T Single submitter hypohidrotic ectodermal dysplasia
- c.*1985A>G Single submitter hypohidrotic ectodermal dysplasia
- c.*2008G>A Single submitter hypohidrotic ectodermal dysplasia
- c.*2018C>G Single submitter hypohidrotic ectodermal dysplasia
- c.*2052C>T Single submitter hypohidrotic ectodermal dysplasia
- c.*272G>A Single submitter hypohidrotic ectodermal dysplasia
- c.*354G>C Single submitter hypohidrotic ectodermal dysplasia
- c.*558C>T Single submitter ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
- c.*586T>C Single submitter hypohidrotic ectodermal dysplasia
- c.*719C>T Single submitter hypohidrotic ectodermal dysplasia
- c.*746G>T Single submitter hypohidrotic ectodermal dysplasia
- c.*757A>C Single submitter hypohidrotic ectodermal dysplasia
- c.*765G>A Single submitter hypohidrotic ectodermal dysplasia
- c.*920C>T Single submitter hypohidrotic ectodermal dysplasia
- c.*921G>A Single submitter hypohidrotic ectodermal dysplasia
- c.*971C>T Single submitter hypohidrotic ectodermal dysplasia
- p.Arg108Gln Single submitter Inborn genetic diseases ⚠
- p.Arg108Trp Single submitter Inborn genetic diseases ⚠
- p.Arg206Trp Single submitter Inborn genetic diseases ⚠
- p.Arg208His Single submitter Inborn genetic diseases ⚠
- p.Asn117Asp Single submitter Inborn genetic diseases ⚠
- p.Asn67Tyr Single submitter ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant ⚠
- p.Asp190Asn Single submitter ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant ⚠
- p.Asp32Gly Single submitter Inborn genetic diseases ⚠
- p.Asp81Val Single submitter ⚠
- p.Asp85Val Single submitter Inborn genetic diseases ⚠
- p.Cys100Arg Single submitter Inborn genetic diseases ⚠
- p.Cys100Ter Single submitter
- p.Cys102Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys132Gly Single submitter Inborn genetic diseases ⚠
- p.Cys154Tyr Single submitter Inborn genetic diseases ⚠
- p.Glu181Asp Single submitter ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant ⚠
- p.Glu201Lys Single submitter Inborn genetic diseases ⚠
- p.Glu50Lys Single submitter ⚠
- p.Gly147Arg Single submitter ⚠
- p.Gly147Val Single submitter ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ⚠
- p.Gly177Asp Single submitter Inborn genetic diseases ⚠
- p.His133Arg Single submitter Inborn genetic diseases ⚠
- p.His18Arg Single submitter ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant ⚠
- p.His214Tyr Single submitter Inborn genetic diseases ⚠
- p.Leu122Pro Single submitter ⚠
- p.Leu182_Cys183insTer Single submitter ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
- p.Pro163His Single submitter ⚠
- p.Pro27Leu Single submitter ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
- p.Pro52Ser Single submitter ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant ⚠
- p.Ser104Cys Single submitter Inborn genetic diseases ⚠
- p.Ser149Phe Single submitter ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant ⚠
- p.Ser162Gly Single submitter ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant ⚠
- p.Ser34Asn Single submitter ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant ⚠
- p.Thr101Ile Single submitter hypohidrotic ectodermal dysplasia ⚠
- p.Thr111Ala Single submitter Inborn genetic diseases ⚠
- p.Thr135Met Single submitter ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
- p.Thr175Met Single submitter Inborn genetic diseases ⚠
- p.Thr35Asn Single submitter Inborn genetic diseases ⚠
- p.Tyr150Asn Single submitter Inborn genetic diseases ⚠
- p.Tyr150His Single submitter Inborn genetic diseases ⚠
- p.Val124Leu Single submitter Inborn genetic diseases ⚠
- p.Val191Leu Single submitter hypohidrotic ectodermal dysplasia ⚠
- p.Val191Met Single submitter Inborn genetic diseases ⚠
- p.Val199fs Single submitter