Sugi Variant

Sugi Variant/NFKBIA

NFKBIA — 332 ClinVar variants

All ClinVar germline NFKBIA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 129 flagged for review →

8 Pathogenic · 1 Likely pathogenic · 14 Conflicting · 30 Benign · 9 Benign/Likely benign · 127 Likely benign · 143 Uncertain significance

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

⚑ Evidence disagreements 129

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 7

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

Predictors lean, ClinVar uncertain 95

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

Predictors split 27

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

All NFKBIA variants

Pathogenic 8

  • p.Gln9Ter Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • p.Ser32Asn Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • p.Glu14Ter No assertion criteria ectodermal dysplasia and immunodeficiency 2
  • p.Leu34Pro No assertion criteria ectodermal dysplasia and immunodeficiency 2
  • p.Ser32Arg No assertion criteria ectodermal dysplasia and immunodeficiency 2
  • p.Ser32Gly No assertion criteria ectodermal dysplasia and immunodeficiency 2
  • p.Ser32Ile No assertion criteria ectodermal dysplasia and immunodeficiency 2
  • p.Ser36Tyr No assertion criteria ectodermal dysplasia and immunodeficiency 2 ⚠

Likely pathogenic 1

  • p.Ser36Ala Single submitter ectodermal dysplasia and immunodeficiency 2

Conflicting classifications of pathogenicity 14

Benign 30

  • c.336+131C>T Multiple submitters
  • c.547+49G>A Multiple submitters
  • c.548-29G>A Multiple submitters
  • c.636+17C>T Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • c.906+20C>T Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • c.907-141T>C Multiple submitters
  • c.-66G>A Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • c.*126G>A Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • c.*421G>A Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • c.*78GAA[1] Multiple submitters
  • p.Ala102= Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • p.Ala81= Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • p.Asp27= Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • c.228-3C>T Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.336+20C>A Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.336+3G>A Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.636+16_636+17delinsTT Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.907-11del Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.907-15del Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.907-15dup Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.*195C>T Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.*263G>T Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.*99T>A Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Arg314His Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Asn109Ser Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Glu51Lys Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.His193Asn Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Leu54= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Lys47Arg Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Pro170Arg Single submitter ectodermal dysplasia and immunodeficiency 2

Benign/Likely benign 9

  • c.548-3C>T Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • c.*18G>C Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • c.*2C>T Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • p.Asp301= Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • p.Gly194Ala Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • p.Gly74Ala Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • p.Leu26= Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • p.Phe298= Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • p.Thr185Met Multiple submitters ectodermal dysplasia and immunodeficiency 2

Likely benign 127

  • c.228-15C>T Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • c.636+19C>T Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • p.Arg264Gln Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • p.Cys167= Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • p.Glu287= Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • p.Glu292= Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • p.Gly183= Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • p.Thr296= Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • p.Thr316= Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • p.Thr90= Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • c.227+13G>A Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.227+19G>A Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.228-15dup Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.228-17C>T Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.228-24_228-18dup Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.228-4A>G Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.228-8C>A Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.228-8C>G Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.228-9T>C Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.336+11T>G Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.336+12G>T Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.336+13C>G Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.336+14C>T Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.336+16G>C Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.336+18C>T Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.336+19C>T Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.336+20C>G Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.336+7C>T Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.336+7del Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.336+9C>T Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.337-13C>G Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.337-4G>A Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.337-9C>A Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.547+11C>T Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.547+17G>A Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.547+18C>T Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.547+9G>A Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.547+9G>C Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.548-17T>C Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.548-5T>C Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.548-7C>T Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.636+15C>T Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.636+17_636+20del Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.636+20G>A Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.637-13C>A Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.637-14C>T Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.906+14_906+15insG Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.906+16C>A Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.906+16C>T Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.906+19T>C Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.907-3C>T Single submitter
  • c.907-6T>C Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.907-9T>G Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Ala190= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Ala220= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Ala224= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Arg264= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Arg61= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Asn105= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Asn180= Single submitter
  • p.Asn180Thr Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Asn229Asp Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Asn244= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Asp231= Single submitter
  • p.Asp290= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Asp73= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Gln228= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Gln268= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Gln44= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Gln9= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Glu10= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Glu43= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Glu64= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Glu72= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Gly155= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Gly240= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Gly250= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Gly270= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Gly312= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Gly33= Single submitter
  • p.Gly62= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Gly74= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Gly99= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.His188= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.His84= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Ile198= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Ile94= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Leu110= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Leu115= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Leu148= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Leu163= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Leu176= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Leu189= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Leu223= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Leu235= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Leu236fs Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Leu237= Single submitter
  • p.Leu274= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Leu49= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Leu80= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Leu89= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Lys21= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Lys22del Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Phe77= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Pro114= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Pro170= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Pro214= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Pro261= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Pro304= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Pro60= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Ser159= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Ser204= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Ser252= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Ser283Cys Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Ser288Gly Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Thr168= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Thr185= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Thr247= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Thr273= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Tyr195= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Tyr251= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Val160Met Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Val203Met Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Val209= Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Val309= Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.228-5dup No assertion criteria NFKBIA-related disorder
  • p.Leu187Pro No assertion criteria prostate cancer

Uncertain significance 143

  • c.336+4C>T Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • c.866_906+4dup Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • p.Ala127Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala190Val Multiple submitters ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Arg29His Multiple submitters ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Asp285Asn Multiple submitters ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Asp39Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Gln107Pro Multiple submitters ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Gln228Glu Multiple submitters ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Gln96Arg Multiple submitters ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Glu294Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu6Lys Multiple submitters ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Ile175Met Multiple submitters ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Leu104Phe Multiple submitters Inborn genetic diseases
  • p.Leu157Val Multiple submitters ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Leu315Arg Multiple submitters ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Met37Arg Multiple submitters ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Pro114Leu Multiple submitters ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Pro281Thr Multiple submitters ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Pro304Arg Multiple submitters ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Pro304Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ser159Arg Multiple submitters ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Ser283Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser63Leu Multiple submitters ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Thr296Met Multiple submitters ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Thr316Met Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr195Cys Multiple submitters ectodermal dysplasia and immunodeficiency 2
  • p.Tyr254Cys Multiple submitters Inborn genetic diseases ⚠
  • c.227+5G>A Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.336+3G>T Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.336+5G>T Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.636+4G>A Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.636+5G>A Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.-42G>T Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.-73C>A Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.-80C>T Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.*102T>G Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.*252T>G Single submitter ectodermal dysplasia and immunodeficiency 2
  • c.*366G>A Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.295_297FTE[1] Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.295FTE[1] Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Ala151Gly Single submitter ⚠
  • p.Ala151Val Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Ala158Gly Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Ala158Val Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Arg140Pro Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Arg143Gln Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Arg218Gln Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Arg260Cys Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Arg260His Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Arg264Trp Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Arg53Gly Single submitter Inborn genetic diseases
  • p.Arg53His Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Arg7Cys Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Arg95Cys Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Arg95Gly Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Arg95Pro Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Asn109His Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Asn180Asp Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Asn276Asp Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Asp231Glu Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Asp306Gly Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Cys156Phe Single submitter Inborn genetic diseases ⚠
  • p.Cys156Ser Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Cys156Trp Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Cys167Arg Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Gln107Arg Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Gln154Arg Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Gln278Lys Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Gln44Arg Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Gln44Lys Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Glu282Asp Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Glu292Gln Single submitter ⚠
  • p.Glu294Gly Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Glu300Ala Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Glu302Lys Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Glu40Lys Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Glu41Ala Single submitter Inborn genetic diseases ⚠
  • p.Glu51Gln Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Glu55Asp Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Glu86Ala Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Glu86Lys Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Gly194Asp Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Gly19Arg Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Gly312Asp Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Gly62Asp Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Gly62Ser Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Gly74Arg Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.His30Gln Single submitter Inborn genetic diseases
  • p.His84Gln Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Ile192Val Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Ile198Val Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Ile52Thr Single submitter ⚠
  • p.Ile83Val Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Leu101Met Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Leu131Arg Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Leu176Pro Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Leu269Val Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Leu26Arg Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Leu26Gln Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Leu26Val Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Leu280Met Single submitter Inborn genetic diseases ⚠
  • p.Leu280Val Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Leu70Pro Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Leu70Val Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Lys238Asn Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Met37Ile Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Met37Lys Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Met45Ile Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Met91Ile Single submitter ⚠
  • p.Phe106Leu Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Pro137fs Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Pro16Ala Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Pro170Ser Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Pro230Ala Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Pro281Leu Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Pro65Ala Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Pro65Leu Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Pro65Ser Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Ser159Gly Single submitter Inborn genetic diseases ⚠
  • p.Ser191Cys Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Ser191Phe Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Ser204Thr Single submitter ⚠
  • p.Ser262Cys Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Ser262Gly Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Ser288Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser288Asn Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Ter318Arg Single submitter ectodermal dysplasia and immunodeficiency 2
  • p.Thr179Ile Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Thr219Ile Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Thr90Ser Single submitter Inborn genetic diseases ⚠
  • p.Trp66Ser Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Tyr248His Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Tyr251Cys Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Tyr305Phe Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Val160Ala Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Val160Leu Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Val199Leu Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Val199Met Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Val309Met Single submitter ectodermal dysplasia and immunodeficiency 2 ⚠
  • p.Val97Leu Single submitter Inborn genetic diseases ⚠
  • p.Asp301fs No assertion criteria NFKBIA-related disorder
  • p.Asp31Asn No assertion criteria sterile multifocal osteomyelitis with periostitis and pustulosis ⚠