EDA — 617 ClinVar variants

All ClinVar germline EDA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 143 flagged for review →

162 Pathogenic · 20 Pathogenic/Likely pathogenic · 88 Likely pathogenic · 20 Conflicting · 57 Benign · 2 Benign/Likely benign · 155 Likely benign · 113 Uncertain significance

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

⚑ Evidence disagreements 143

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 11

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

EDA p.Arg153Cys Pathogenic Multiple submitters
X-linked hypohidrotic ectodermal dysplasia
EDA p.Arg155Cys Pathogenic Multiple submitters
X-linked hypohidrotic ectodermal dysplasia
EDA p.Arg289His Pathogenic/Likely pathogenic Multiple submitters
X-linked hypohidrotic ectodermal dysplasia
EDA p.Gly165Ala Pathogenic/Likely pathogenic Multiple submitters
X-linked hypohidrotic ectodermal dysplasia
EDA p.Gly236Ser Likely pathogenic Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Leu55Val Likely pathogenic Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Lys158Arg Likely pathogenic Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Pro220Ala Likely pathogenic Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Pro220Leu Pathogenic Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Ser160Asn Pathogenic Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Thr338Ala Likely pathogenic Single submitter
X-linked hypohidrotic ectodermal dysplasia

Predictors agree, ClinVar conflicts 8

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

EDA p.Ala390Thr Conflicting Single submitter
Inborn genetic diseases
EDA p.Asp239Glu Conflicting Single submitter
Inborn genetic diseases
EDA p.Glu164Ala Conflicting Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Glu294Val Conflicting Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Leu62Pro Conflicting Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Lys375Glu Conflicting Single submitter
EDA p.Phe329Cys Conflicting Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Pro209Leu Conflicting Single submitter
X-linked hypohidrotic ectodermal dysplasia

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

EDA p.Gln254Ter Conflicting Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Ter392Tyr Conflicting Single submitter
X-linked hypohidrotic ectodermal dysplasia

Predictors lean, ClinVar uncertain 58

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

EDA p.Glu67Asp Uncertain significance Multiple submitters
EDA p.Ala361Thr Uncertain significance Single submitter
EDA p.Ala388Asp Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Arg18Pro Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Arg334Pro Uncertain significance Single submitter
EDA p.Arg357Gly Uncertain significance Single submitter
EDA p.Arg357Pro Uncertain significance Single submitter
EDA p.Arg384Thr Uncertain significance Single submitter
EDA p.Arg70Pro Uncertain significance Single submitter
EDA p.Arg8Ser Uncertain significance Single submitter
EDA-related disorder
EDA p.Asn137Ile Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Asn185Ser Uncertain significance Single submitter
EDA p.Asn272Asp Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Asn372Ser Uncertain significance Single submitter
EDA p.Asp325Tyr Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Cys60Tyr Uncertain significance Single submitter
Inborn genetic diseases
EDA p.Gln247Arg Uncertain significance Single submitter
EDA p.Gln306Leu Uncertain significance Single submitter
EDA p.Gln358Arg Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Glu36Lys Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Gly195Arg Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Gly218Cys Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Gly268Val Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Ile205Phe Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Ile371Phe Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Leu266Phe Uncertain significance Single submitter
EDA p.Leu266Pro Uncertain significance Single submitter
EDA p.Leu58Ser Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Lys178Glu Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Lys285Glu Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Lys359Glu Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Lys363Glu Uncertain significance Single submitter
EDA p.Met133Thr Uncertain significance Single submitter
EDA p.Met214Thr Uncertain significance Single submitter
EDA p.Phe317Cys Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Pro101Ser Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Pro200Gln Uncertain significance Single submitter
EDA p.Pro203Ala Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Pro328His Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Pro389Leu Uncertain significance Single submitter
EDA p.Pro4Arg Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Ser305Asn Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Ser319Asn Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Ser319Thr Uncertain significance Single submitter
EDA p.Ser370Pro Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Ser50Trp Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Thr212Ala Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Thr345Ala Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Thr345Ile Uncertain significance Single submitter
EDA p.Tyr301Asp Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Tyr304Asp Uncertain significance Single submitter
EDA p.Tyr343His Uncertain significance Single submitter
EDA p.Val362Ala Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Glu19Gly Uncertain significance No assertion criteria
X-linked hypohidrotic ectodermal dysplasia
EDA p.Ile303Val Uncertain significance No assertion criteria
X-linked hypohidrotic ectodermal dysplasia
EDA p.Ile371Asn Uncertain significance No assertion criteria
X-linked hypohidrotic ectodermal dysplasia
EDA p.Ser104Gly Uncertain significance No assertion criteria
X-linked hypohidrotic ectodermal dysplasia
EDA p.Ser319Arg Uncertain significance No assertion criteria
EDA-related disorder

Predictors split 64

The independent predictors disagree with each other — read with care.

EDA p.Arg156His Pathogenic Multiple submitters
tooth agenesis, selective, X-linked, 1
EDA p.Arg276Leu Pathogenic/Likely pathogenic Multiple submitters
X-linked hypohidrotic ectodermal dysplasia
EDA p.Arg334His Benign Multiple submitters
X-linked hypohidrotic ectodermal dysplasia
EDA p.Arg357Trp Pathogenic/Likely pathogenic Multiple submitters
X-linked hypohidrotic ectodermal dysplasia
EDA p.Asn372Lys Pathogenic/Likely pathogenic Multiple submitters
X-linked hypohidrotic ectodermal dysplasia
EDA p.Asp265Ala Uncertain significance Multiple submitters
X-linked hypohidrotic ectodermal dysplasia
EDA p.Gln247His Uncertain significance Multiple submitters
X-linked hypohidrotic ectodermal dysplasia
EDA p.Leu53Phe Uncertain significance Multiple submitters
tooth agenesis, selective, X-linked, 1
EDA p.Phe314Ser Uncertain significance Multiple submitters
Inborn genetic diseases
EDA p.Thr338Met Pathogenic Multiple submitters
tooth agenesis, selective, X-linked, 1
EDA p.Val365Ala Pathogenic/Likely pathogenic Multiple submitters
X-linked hypohidrotic ectodermal dysplasia
EDA p.Ala34Val Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Ala356Thr Likely pathogenic Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Arg153His Conflicting Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Arg155His Conflicting Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Arg159Ser Likely pathogenic Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Arg276Gly Likely pathogenic Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Arg276Pro Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Arg289Gly Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Arg33Trp Conflicting Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Arg69Leu Conflicting Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Arg69Trp Benign Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Arg72His Benign Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Asp265Asn Uncertain significance Single submitter
EDA p.Asp265Glu Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Asp265Gly Conflicting Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Gln197Lys Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Gln358Glu Pathogenic Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Glu10Lys Uncertain significance Single submitter
EDA p.Glu308Gly Likely pathogenic Single submitter
EDA p.Glu321Lys Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Glu337Val Likely benign Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.His376Arg Uncertain significance Single submitter
EDA p.Ile312Thr Likely pathogenic Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Ile369Asn Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Leu93Phe Benign Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Lys375Arg Benign Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Met214Lys Likely pathogenic Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Met279Ile Pathogenic Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Met373Ile Pathogenic Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Met373Val Uncertain significance Single submitter
EDA p.Phe302Leu Pathogenic Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Phe317Ser Uncertain significance Single submitter
EDA p.Pro184Ser Uncertain significance Single submitter
EDA p.Pro188Ser Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Pro209Ser Likely pathogenic Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Pro216Ser Conflicting Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Ser147Cys Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Ser160Arg Uncertain significance Single submitter
tooth agenesis, selective, X-linked, 1
EDA p.Ser50Ala Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Ser66Leu Benign Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Thr341Ile Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Tyr310Asp Likely pathogenic Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Tyr311His Conflicting Single submitter
Inborn genetic diseases
EDA p.Tyr311Ser Likely pathogenic Single submitter
EDA p.Val270Met Likely benign Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Val283Gly Uncertain significance Single submitter
X-linked hypohidrotic ectodermal dysplasia
EDA p.Val283Leu Uncertain significance Single submitter
EDA-related disorder
EDA p.Ala259Glu Pathogenic No assertion criteria
tooth agenesis, selective, X-linked, 1
EDA p.Glu337Lys Uncertain significance No assertion criteria
X-linked hypohidrotic ectodermal dysplasia
EDA p.Pro13Leu Uncertain significance No assertion criteria
X-linked hypohidrotic ectodermal dysplasia
EDA p.Pro216Leu Uncertain significance No assertion criteria
X-linked hypohidrotic ectodermal dysplasia
EDA p.Tyr310His Uncertain significance No assertion criteria
EDA-related disorder
EDA p.Val283Met Uncertain significance No assertion criteria
X-linked hypohidrotic ectodermal dysplasia

All EDA variants

Pathogenic 162

c.707-13T>G Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.217_219PGP[1] Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Ala166fs Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Ala349Thr Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Arg153Cys Multiple submitters X-linked hypohidrotic ectodermal dysplasia ⚠
p.Arg155Cys Multiple submitters X-linked hypohidrotic ectodermal dysplasia ⚠
p.Arg156His Multiple submitters tooth agenesis, selective, X-linked, 1 ⚠
p.Arg244Ter Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Arg289Cys Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Asn185_Pro196del Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Cys25fs Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Gln226Ter Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Gln23Ter Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Gln256Ter Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Gln331Ter Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Gly207Arg Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Gly291Glu Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Gly85fs Multiple submitters tooth agenesis, selective, X-linked, 1
p.Leu56Pro Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Met1Thr Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Phe317fs Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Pro199fs Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Pro4fs Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Ser91fs Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Thr338Met Multiple submitters tooth agenesis, selective, X-linked, 1 ⚠
p.Trp274fs Multiple submitters X-linked hypohidrotic ectodermal dysplasia
c.396+1G>A Single submitter X-linked hypohidrotic ectodermal dysplasia
c.396+2T>C Single submitter
c.396+2T>G Single submitter X-linked hypohidrotic ectodermal dysplasia
c.396+4dup Single submitter X-linked hypohidrotic ectodermal dysplasia
c.(?_397 Single submitter X-linked hypohidrotic ectodermal dysplasia
c.397-1G>C Single submitter X-linked hypohidrotic ectodermal dysplasia
c.397-2A>T Single submitter X-linked hypohidrotic ectodermal dysplasia
c.(?_397-304 Single submitter X-linked hypohidrotic ectodermal dysplasia
c.502+1G>A Single submitter X-linked hypohidrotic ectodermal dysplasia
c.503-2del Single submitter X-linked hypohidrotic ectodermal dysplasia
c.526+1G>A Single submitter X-linked hypohidrotic ectodermal dysplasia
c.526+2T>C Single submitter
c.526+5G>C Single submitter X-linked hypohidrotic ectodermal dysplasia
c.527-2A>G Single submitter X-linked hypohidrotic ectodermal dysplasia
c.527-2A>T Single submitter X-linked hypohidrotic ectodermal dysplasia
c.585_706+6delinsTCCTCCTGGTCC Single submitter X-linked hypohidrotic ectodermal dysplasia
c.673_706+2del Single submitter X-linked hypohidrotic ectodermal dysplasia
c.706+1G>C Single submitter X-linked hypohidrotic ectodermal dysplasia
c.706+5G>T Single submitter X-linked hypohidrotic ectodermal dysplasia
c.(?_707 Single submitter X-linked hypohidrotic ectodermal dysplasia
c.707-1G>A Single submitter
c.707-2A>T Single submitter X-linked hypohidrotic ectodermal dysplasia
c.741+1G>A Single submitter
c.742-2A>G Single submitter X-linked hypohidrotic ectodermal dysplasia
c.924+1G>A Single submitter X-linked hypohidrotic ectodermal dysplasia
c.924+4A>T Single submitter X-linked hypohidrotic ectodermal dysplasia
c.(?_925 Single submitter X-linked hypohidrotic ectodermal dysplasia
c.(?_-115 Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ala241fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ala34fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ala367fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ala382fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Arg156Leu Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Arg20Ter Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Arg289fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Asn163delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Asn185_Pro193del Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Asn342_Tyr343insTer Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gln108fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gln128fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gln197fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gln247= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gln247Ter Single submitter
p.Gln306Lys Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gln306Pro Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gln306Ter Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gln358Glu Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Gln358Ter Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Glu10Ter Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Glu148Ter Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Glu150Ter Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Glu292_Val297del Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Glu308Ter Single submitter
p.Glu337Ter Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Glu71fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Glu75Ter Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly165fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly198fs Single submitter
p.Gly201fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly201Glu Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly204Arg Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly210Arg Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly210Ter Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly215fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly215Ter Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly221Asp Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly224Arg Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly230fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly291Arg Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly291Val Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly299Asp Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly45Asp Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly73fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly82fs Single submitter
p.His131fs Single submitter
p.Ile202_Gly210del Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ile205fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Leu116Ter Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Leu123fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Leu293Arg Single submitter tooth agenesis, selective, 2
p.Leu56Gln Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Leu78fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Leu96fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Lys158Asn Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Lys174fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Met1Arg Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Met1fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Met1Val Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Met279Ile Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Met364Thr Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Met373Ile Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Phe138fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Phe284Leu Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Phe302Leu Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Phe329fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Phe329Ser Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Phe46fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Pro188fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Pro191fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Pro193fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Pro196fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Pro200fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Pro220Leu Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Pro228fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ser110fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ser110Ter Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ser160Asn Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Ser258Ter Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ser267= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ser81fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Thr211Arg Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Thr378Met Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Trp274Ter Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Tyr310_Tyr311insTer Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Tyr310Cys Single submitter
p.Tyr311fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Tyr320Cys Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Tyr320Ter Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Tyr343Ter Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Tyr61Ter Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Val154fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Val213fs Single submitter ectodermal dysplasia syndrome
p.Val270fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Val295fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Val297fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Val324Met Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ala259Glu No assertion criteria tooth agenesis, selective, X-linked, 1 ⚠
p.Arg65Gly No assertion criteria tooth agenesis, selective, X-linked, 1
p.Cys60Ter No assertion criteria X-linked hypohidrotic ectodermal dysplasia
p.Gly192fs No assertion criteria X-linked hypohidrotic ectodermal dysplasia
p.Gly224Ala No assertion criteria X-linked hypohidrotic ectodermal dysplasia
p.His252Leu No assertion criteria X-linked hypohidrotic ectodermal dysplasia
p.Lys263Gln No assertion criteria Oligodontia
p.Phe379Ser No assertion criteria X-linked hypohidrotic ectodermal dysplasia
p.Pro200Leu No assertion criteria X-linked hypohidrotic ectodermal dysplasia
p.Ser305fs No assertion criteria X-linked hypohidrotic ectodermal dysplasia

Pathogenic/Likely pathogenic 20

c.706+1G>A Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.202_204IPG[1] Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Ala356Asp Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Ala356Val Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Arg156Cys Multiple submitters EDA-related disorder
p.Arg276Cys Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Arg276Leu Multiple submitters X-linked hypohidrotic ectodermal dysplasia ⚠
p.Arg289His Multiple submitters X-linked hypohidrotic ectodermal dysplasia ⚠
p.Arg357Trp Multiple submitters X-linked hypohidrotic ectodermal dysplasia ⚠
p.Asn372Lys Multiple submitters X-linked hypohidrotic ectodermal dysplasia ⚠
p.Gln306Arg Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Gly165Ala Multiple submitters X-linked hypohidrotic ectodermal dysplasia ⚠
p.Gly207Glu Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Gly299Ser Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.His252Tyr Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Pro219_Gly230del Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Ser267Ter Multiple submitters tooth agenesis, selective, X-linked, 1
p.Thr333Arg Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Tyr61His Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Val365Ala Multiple submitters X-linked hypohidrotic ectodermal dysplasia ⚠

Likely pathogenic 88

c.526+5G>T Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Ala349Ser Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Ala382Thr Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Arg384Ser Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Gly255Asp Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Pro203Ser Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Pro206Leu Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Val365Met Multiple submitters X-linked hypohidrotic ectodermal dysplasia
c.502_502+19del Single submitter Inborn genetic diseases
c.526+1del Single submitter X-linked hypohidrotic ectodermal dysplasia
c.526+5G>A Single submitter X-linked hypohidrotic ectodermal dysplasia
c.741+2T>C Single submitter
c.794-1G>A Single submitter X-linked hypohidrotic ectodermal dysplasia
c.924+1G>T Single submitter X-linked hypohidrotic ectodermal dysplasia
c.924+7A>G Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ala249fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ala318Asp Single submitter
p.Ala356fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ala356Thr Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Arg159Ser Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Arg159Thr Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Arg18fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Arg276Gly Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Arg384Gly Single submitter
p.Arg77fs Single submitter
p.Asp316Glu Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Cys332Tyr Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Cys346Arg Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Cys346Trp Single submitter
p.Glu150fs Single submitter
p.Glu308Gly Single submitter ⚠
p.Glu321Ter Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Glu63Lys Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly189Arg Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly192Glu Single submitter
p.Gly204Glu Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly215Glu Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly221Val Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly236Ser Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Gly257Arg Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly268fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly269Arg Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly291Trp Single submitter
p.Gly299Cys Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly2fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly350Cys Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly381Glu Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly45Arg Single submitter X-linked hypohidrotic ectodermal dysplasia
p.His54Leu Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ile260Ser Single submitter
p.Ile303Thr Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ile312Thr Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Ile336fs Single submitter EDA-related disorder
p.Leu296fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Leu44fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Leu49Pro Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Leu55Gln Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Leu55Val Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Lys158Arg Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Met214Lys Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Met279Arg Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Phe140fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Phe379Leu Single submitter
p.Pro145fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Pro203Leu Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Pro203Thr Single submitter
p.Pro209Ser Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Pro220Ala Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Ser305Arg Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ter392Gln Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Thr338Ala Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Thr57Arg Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Thr86fs Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Trp274Arg Single submitter EDA-related disorder
p.Trp274Cys Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Tyr304Cys Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Tyr304Ser Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Tyr310Asp Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Tyr311Ser Single submitter ⚠
p.Tyr320_Ser335del Single submitter
p.Tyr320Asp Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Tyr320His Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Tyr320Ser Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Tyr61Asn Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Cys60Arg No assertion criteria X-linked hypohidrotic ectodermal dysplasia
p.Gly107fs No assertion criteria EDA-related disorder
p.Leu64fs No assertion criteria X-linked hypohidrotic ectodermal dysplasia
p.Tyr301Cys No assertion criteria X-linked hypohidrotic ectodermal dysplasia

Conflicting classifications of pathogenicity 20

c.924+8C>A Single submitter X-linked hypohidrotic ectodermal dysplasia
p.217PGP[2] Single submitter Inborn genetic diseases
p.Ala390Thr Single submitter Inborn genetic diseases ⚠
p.Arg153His Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Arg155His Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Arg33Trp Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Arg69Leu Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Asp239Glu Single submitter Inborn genetic diseases ⚠
p.Asp265Gly Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Gln254Ter Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Glu164Ala Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Glu294Val Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Leu266= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Leu62Pro Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Lys375Glu Single submitter ⚠
p.Phe329Cys Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Pro209Leu Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Pro216Ser Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Ter392Tyr Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Tyr311His Single submitter Inborn genetic diseases ⚠

Benign 57

c.396+53700C>T Multiple submitters
c.396+53750C>G Multiple submitters
c.397-96018= Multiple submitters
c.503-279A>G Multiple submitters
c.526+27T>A Multiple submitters
c.706+11_706+12del Multiple submitters X-linked hypohidrotic ectodermal dysplasia
c.741+125G>T Multiple submitters
c.741+47G>C Multiple submitters
c.742-11C>T Multiple submitters X-linked hypohidrotic ectodermal dysplasia
c.*34C>T Multiple submitters
p.Arg334His Multiple submitters X-linked hypohidrotic ectodermal dysplasia ⚠
p.Ser127= Multiple submitters X-linked hypohidrotic ectodermal dysplasia
c.396+308dup Single submitter
c.396+53200A>C Single submitter
c.396+53499C>T Single submitter
c.397-96293T>C Single submitter
c.502+10C>T Single submitter X-linked hypohidrotic ectodermal dysplasia
c.503-13A>G Single submitter X-linked hypohidrotic ectodermal dysplasia
c.503-14T>C Single submitter X-linked hypohidrotic ectodermal dysplasia
c.526+10T>G Single submitter X-linked hypohidrotic ectodermal dysplasia
c.526+203C>T Single submitter
c.526+20A>C Single submitter X-linked hypohidrotic ectodermal dysplasia
c.527-221G>A Single submitter
c.527-25dup Single submitter
c.527-291T>A Single submitter
c.527-306G>A Single submitter
c.706+11del Single submitter X-linked hypohidrotic ectodermal dysplasia
c.707-18T>G Single submitter X-linked hypohidrotic ectodermal dysplasia
c.741+168C>T Single submitter
c.741+18C>G Single submitter X-linked hypohidrotic ectodermal dysplasia
c.741+9G>A Single submitter X-linked hypohidrotic ectodermal dysplasia
c.793+19T>C Single submitter X-linked hypohidrotic ectodermal dysplasia
c.924+210T>C Single submitter
c.924+215C>A Single submitter
c.924+219T>A Single submitter
c.924+38G>A Single submitter
c.924+45G>A Single submitter
c.925-296A>G Single submitter
p.Ala361= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Arg20= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Arg334Cys Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Arg357Gln Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Arg69Trp Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Arg72His Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Asn157Asp Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Asp368= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly130= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.His366= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Leu293= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Leu44= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Leu93Phe Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Lys375Arg Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Pro145= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ser66Leu Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Thr278Ser Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Thr338= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Thr348= Single submitter X-linked hypohidrotic ectodermal dysplasia

Benign/Likely benign 2

c.794-11C>T Multiple submitters X-linked hypohidrotic ectodermal dysplasia
p.Pro84_Thr86del Multiple submitters X-linked hypohidrotic ectodermal dysplasia

Likely benign 155

c.396+10C>T Single submitter X-linked hypohidrotic ectodermal dysplasia
c.396+9C>T Single submitter X-linked hypohidrotic ectodermal dysplasia
c.397-12T>C Single submitter X-linked hypohidrotic ectodermal dysplasia
c.397-16_397-11del Single submitter X-linked hypohidrotic ectodermal dysplasia
c.397-17A>G Single submitter X-linked hypohidrotic ectodermal dysplasia
c.397-19G>A Single submitter X-linked hypohidrotic ectodermal dysplasia
c.397-6T>C Single submitter X-linked hypohidrotic ectodermal dysplasia
c.502+10_502+14del Single submitter X-linked hypohidrotic ectodermal dysplasia
c.502+16T>C Single submitter X-linked hypohidrotic ectodermal dysplasia
c.503-4A>C Single submitter X-linked hypohidrotic ectodermal dysplasia
c.503-5T>C Single submitter X-linked hypohidrotic ectodermal dysplasia
c.503-8T>C Single submitter X-linked hypohidrotic ectodermal dysplasia
c.526+17A>G Single submitter X-linked hypohidrotic ectodermal dysplasia
c.526+19A>G Single submitter X-linked hypohidrotic ectodermal dysplasia
c.527-18del Single submitter X-linked hypohidrotic ectodermal dysplasia
c.527-19A>G Single submitter X-linked hypohidrotic ectodermal dysplasia
c.527-7T>C Single submitter X-linked hypohidrotic ectodermal dysplasia
c.527-9A>G Single submitter X-linked hypohidrotic ectodermal dysplasia
c.706+10_706+11del Single submitter X-linked hypohidrotic ectodermal dysplasia
c.706+13G>C Single submitter X-linked hypohidrotic ectodermal dysplasia
c.706+14T>A Single submitter X-linked hypohidrotic ectodermal dysplasia
c.706+14T>C Single submitter X-linked hypohidrotic ectodermal dysplasia
c.706+8C>A Single submitter X-linked hypohidrotic ectodermal dysplasia
c.707-15T>G Single submitter X-linked hypohidrotic ectodermal dysplasia
c.707-17C>A Single submitter X-linked hypohidrotic ectodermal dysplasia
c.707-5T>C Single submitter X-linked hypohidrotic ectodermal dysplasia
c.707-7T>C Single submitter X-linked hypohidrotic ectodermal dysplasia
c.707-9A>G Single submitter X-linked hypohidrotic ectodermal dysplasia
c.741+17T>C Single submitter X-linked hypohidrotic ectodermal dysplasia
c.741+18C>T Single submitter X-linked hypohidrotic ectodermal dysplasia
c.741+5G>T Single submitter X-linked hypohidrotic ectodermal dysplasia
c.742-20_742-17del Single submitter X-linked hypohidrotic ectodermal dysplasia
c.793+10A>G Single submitter X-linked hypohidrotic ectodermal dysplasia
c.793+19del Single submitter X-linked hypohidrotic ectodermal dysplasia
c.793+20C>G Single submitter X-linked hypohidrotic ectodermal dysplasia
c.794-14_794-12del Single submitter X-linked hypohidrotic ectodermal dysplasia
c.794-7T>C Single submitter X-linked hypohidrotic ectodermal dysplasia
c.924+14T>G Single submitter X-linked hypohidrotic ectodermal dysplasia
c.924+15A>C Single submitter X-linked hypohidrotic ectodermal dysplasia
c.924+20T>G Single submitter X-linked hypohidrotic ectodermal dysplasia
c.924+8C>T Single submitter X-linked hypohidrotic ectodermal dysplasia
c.924+9G>A Single submitter X-linked hypohidrotic ectodermal dysplasia
c.924+9G>C Single submitter X-linked hypohidrotic ectodermal dysplasia
c.925-11C>T Single submitter X-linked hypohidrotic ectodermal dysplasia
c.925-13G>A Single submitter X-linked hypohidrotic ectodermal dysplasia
c.925-17T>G Single submitter X-linked hypohidrotic ectodermal dysplasia
c.925-6A>G Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ala122= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ala14= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ala16= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ala166Val Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ala238= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ala259= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ala30= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ala356= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ala367Thr Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ala382Ser Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ala390= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Arg152= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Arg153= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Arg244= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Arg289= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Arg33= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Arg357= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Arg65= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Arg77= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Asn157= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Asn342= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Asp129Glu Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Asp298= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gln331= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gln358= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Glu10Gln Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Glu150Gly Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Glu19= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Glu19Ala Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Glu337Val Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Glu75= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly107= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly176= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly180= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly186= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly204= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly224= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly257= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly268= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly291= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly299= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly37= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly381= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly45= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Gly73Ala Single submitter X-linked hypohidrotic ectodermal dysplasia
p.His124Arg Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ile277= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ile336= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ile360= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Leu116= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Leu12= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Leu135= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Leu136= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Leu253= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Leu286= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Leu296= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Leu330= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Leu41= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Leu56= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Leu78= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Leu96= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Phe138= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Phe284= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Phe379= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Pro109= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Pro115= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Pro118= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Pro13= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Pro182= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Pro184= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Pro188= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Pro190= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Pro194= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Pro196= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Pro199= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Pro223= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Pro228= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Pro248= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Pro288= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Pro389= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ser125= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ser22= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ser290= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ser66= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ser81= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ser81Leu Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Ser91= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Thr212= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Thr278= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Thr345= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Thr83= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Thr86= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Tyr301= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Tyr310= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Tyr320= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Tyr347= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Tyr61= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Val154= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Val250= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Val251= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Val270= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Val270Met Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Val295= Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Val309= Single submitter X-linked hypohidrotic ectodermal dysplasia
c.396+53493_396+53498dup No assertion criteria EDA-related disorder
c.396+53494_396+53498dup No assertion criteria EDA-related disorder
c.396+53496_396+53498dup No assertion criteria EDA-related disorder
p.Leu106= No assertion criteria EDA-related disorder

Uncertain significance 113

p.Asp265Ala Multiple submitters X-linked hypohidrotic ectodermal dysplasia ⚠
p.Gln247His Multiple submitters X-linked hypohidrotic ectodermal dysplasia ⚠
p.Glu67Asp Multiple submitters ⚠
p.Leu53Phe Multiple submitters tooth agenesis, selective, X-linked, 1 ⚠
p.Leu58del Multiple submitters Inborn genetic diseases
p.Phe314Ser Multiple submitters Inborn genetic diseases ⚠
c.396+5G>C Single submitter X-linked hypohidrotic ectodermal dysplasia
c.502+2T>C Single submitter
c.527-6T>G Single submitter
c.742-14T>G Single submitter
c.742-18T>G Single submitter
c.924+3G>C Single submitter X-linked hypohidrotic ectodermal dysplasia
c.924+5G>A Single submitter X-linked hypohidrotic ectodermal dysplasia
c.924+6T>A Single submitter
c.924+8C>G Single submitter X-linked hypohidrotic ectodermal dysplasia
c.-80G>T Single submitter
c.*384C>T Single submitter
p.188PGP[2] Single submitter
p.Ala34Val Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Ala361Thr Single submitter ⚠
p.Ala388Asp Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Arg156Ser Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Arg18Pro Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Arg276Pro Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Arg289Gln Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Arg289Gly Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Arg334Pro Single submitter ⚠
p.Arg357Gly Single submitter ⚠
p.Arg357Pro Single submitter ⚠
p.Arg384Thr Single submitter ⚠
p.Arg70Pro Single submitter ⚠
p.Arg8Ser Single submitter EDA-related disorder ⚠
p.Asn137Ile Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Asn185Ser Single submitter ⚠
p.Asn272Asp Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Asn372Ser Single submitter ⚠
p.Asp265Asn Single submitter ⚠
p.Asp265Glu Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Asp325Tyr Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Cys346_Ala349del Single submitter
p.Cys60Tyr Single submitter Inborn genetic diseases ⚠
p.Gln197Lys Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Gln247Arg Single submitter ⚠
p.Gln306Leu Single submitter ⚠
p.Gln358Arg Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Glu10Lys Single submitter ⚠
p.Glu321Lys Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Glu36Lys Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Gly195Arg Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Gly218Cys Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Gly268Val Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.His376Arg Single submitter ⚠
p.Ile205Phe Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Ile369Asn Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Ile371Phe Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Leu266Phe Single submitter ⚠
p.Leu266Pro Single submitter ⚠
p.Leu296_Val297del Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Leu58Ser Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Lys178_Pro182delinsThr Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Lys178Glu Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Lys285Glu Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Lys359Glu Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Lys363Glu Single submitter ⚠
p.Met133Thr Single submitter ⚠
p.Met214Thr Single submitter ⚠
p.Met373Val Single submitter ⚠
p.Phe317Cys Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Phe317Ser Single submitter ⚠
p.Pro101Ser Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Pro184Ser Single submitter ⚠
p.Pro188Ser Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Pro196_Gln197insProGlyPro Single submitter X-linked hypohidrotic ectodermal dysplasia
p.Pro200Gln Single submitter ⚠
p.Pro203Ala Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Pro328His Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Pro389Leu Single submitter ⚠
p.Pro4Arg Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Ser147Cys Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Ser160Arg Single submitter tooth agenesis, selective, X-linked, 1 ⚠
p.Ser305Asn Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Ser319Asn Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Ser319Thr Single submitter ⚠
p.Ser370Pro Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Ser50Ala Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Ser50Trp Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Thr212Ala Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Thr341Ile Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Thr345Ala Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Thr345Ile Single submitter ⚠
p.Tyr301Asp Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Tyr304Asp Single submitter ⚠
p.Tyr343His Single submitter ⚠
p.Val283Gly Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
p.Val283Leu Single submitter EDA-related disorder ⚠
p.Val362Ala Single submitter X-linked hypohidrotic ectodermal dysplasia ⚠
c.-8C>T No assertion criteria X-linked hypohidrotic ectodermal dysplasia
p.Ala382= No assertion criteria X-linked hypohidrotic ectodermal dysplasia
p.Gln128= No assertion criteria X-linked hypohidrotic ectodermal dysplasia
p.Glu19Gly No assertion criteria X-linked hypohidrotic ectodermal dysplasia ⚠
p.Glu292= No assertion criteria X-linked hypohidrotic ectodermal dysplasia
p.Glu337Lys No assertion criteria X-linked hypohidrotic ectodermal dysplasia ⚠
p.Gly28= No assertion criteria X-linked hypohidrotic ectodermal dysplasia
p.Gly29= No assertion criteria X-linked hypohidrotic ectodermal dysplasia
p.Ile303Val No assertion criteria X-linked hypohidrotic ectodermal dysplasia ⚠
p.Ile371Asn No assertion criteria X-linked hypohidrotic ectodermal dysplasia ⚠
p.Pro13Leu No assertion criteria X-linked hypohidrotic ectodermal dysplasia ⚠
p.Pro196_Gln197insProGlyProProGlyPro No assertion criteria X-linked hypohidrotic ectodermal dysplasia
p.Pro216Leu No assertion criteria X-linked hypohidrotic ectodermal dysplasia ⚠
p.Ser104Gly No assertion criteria X-linked hypohidrotic ectodermal dysplasia ⚠
p.Ser319Arg No assertion criteria EDA-related disorder ⚠
p.Tyr310His No assertion criteria EDA-related disorder ⚠
p.Val283Met No assertion criteria X-linked hypohidrotic ectodermal dysplasia ⚠