IKBKB — 829 ClinVar variants

All ClinVar germline IKBKB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 262 flagged for review →

18 Pathogenic · 17 Likely pathogenic · 19 Conflicting · 32 Benign · 13 Benign/Likely benign · 441 Likely benign · 289 Uncertain significance

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

⚑ Evidence disagreements 262

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 8

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

IKBKB p.Arg404Gln Conflicting Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Arg645Trp Conflicting Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Asn696Ser Conflicting Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Cys464Arg Conflicting Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Glu502Lys Conflicting Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gly374Ser Conflicting Single submitter
Inborn genetic diseases
IKBKB p.Met83Val Conflicting Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Pro296Leu Conflicting Single submitter
severe combined immunodeficiency due to IKK2 deficiency

Predicted LoF vs a conflicting call 1

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.

IKBKB p.Gln448Ter Conflicting Single submitter
severe combined immunodeficiency due to IKK2 deficiency

Predictors lean, ClinVar uncertain 206

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 206

IKBKB p.Ala422Thr Uncertain significance Multiple submitters
Inborn genetic diseases
IKBKB p.Ala454Thr Uncertain significance Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Ala702Thr Uncertain significance Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Arg105Trp Uncertain significance Multiple submitters
immunodeficiency 15a
IKBKB p.Arg419Gly Uncertain significance Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Arg446Trp Uncertain significance Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Arg606Gln Uncertain significance Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Asn377Ser Uncertain significance Multiple submitters
immunodeficiency 15a
IKBKB p.Asp364Asn Uncertain significance Multiple submitters
Inborn genetic diseases
IKBKB p.Gln110Arg Uncertain significance Multiple submitters
Inborn genetic diseases
IKBKB p.Gln369Arg Uncertain significance Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gln400His Uncertain significance Multiple submitters
IKBKB-related disorder
IKBKB p.Gln743Leu Uncertain significance Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Glu119Asp Uncertain significance Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Glu271Ala Uncertain significance Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Glu408Ala Uncertain significance Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Glu707Lys Uncertain significance Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Glu729Gln Uncertain significance Multiple submitters
Inborn genetic diseases
IKBKB p.Leu560Pro Uncertain significance Multiple submitters
Inborn genetic diseases
IKBKB p.Leu7Met Uncertain significance Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Lys106Arg Uncertain significance Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Met475Thr Uncertain significance Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Met552Val Uncertain significance Multiple submitters
immunodeficiency 15a
IKBKB p.Pro5Leu Uncertain significance Multiple submitters
Inborn genetic diseases
IKBKB p.Ser489Ile Uncertain significance Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Thr217Met Uncertain significance Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Thr290Met Uncertain significance Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Thr293Met Uncertain significance Multiple submitters
Inborn genetic diseases
IKBKB p.Thr559Ala Uncertain significance Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Thr559Met Uncertain significance Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Thr693Met Uncertain significance Multiple submitters
Inborn genetic diseases
IKBKB p.Tyr205His Uncertain significance Multiple submitters
Inborn genetic diseases
IKBKB p.Val183Met Uncertain significance Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Val534Ile Uncertain significance Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Val607Leu Uncertain significance Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Val607Met Uncertain significance Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Ala170Val Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Ala270Gly Uncertain significance Single submitter
Inborn genetic diseases
IKBKB p.Ala302Val Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Ala360Val Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Ala453Thr Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Ala539Gly Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Ala567Ser Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Ala622Val Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Ala736Gly Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Ala755Thr Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Ala87Val Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Arg105Gln Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Arg118Gln Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Arg220Gln Uncertain significance Single submitter
IKBKB p.Arg236Gln Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Arg272Gln Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Arg286Gln Uncertain significance Single submitter
IKBKB p.Arg31Gln Uncertain significance Single submitter
Inborn genetic diseases
IKBKB p.Arg446Gln Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Arg47Trp Uncertain significance Single submitter
IKBKB p.Arg526Trp Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Arg536Gln Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Arg536Gly Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Arg53Trp Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Arg554Gln Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Arg554Trp Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Arg55Gln Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Arg57Gln Uncertain significance Single submitter
IKBKB p.Arg606Gly Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Arg645Gln Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Arg650Trp Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Asn225Ser Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Asn225Thr Uncertain significance Single submitter
Inborn genetic diseases
IKBKB p.Asn308Lys Uncertain significance Single submitter
Inborn genetic diseases
IKBKB p.Asn392His Uncertain significance Single submitter
IKBKB p.Asn72Ser Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Asn89Ser Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Asp291Tyr Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Asp343Asn Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Asp373His Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Asp543Asn Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Cys114Tyr Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Cys412Ser Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Cys524Arg Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Cys99Tyr Uncertain significance Single submitter
IKBKB p.Gln154Arg Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gln197Lys Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gln415Arg Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gln451Glu Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gln491Arg Uncertain significance Single submitter
Inborn genetic diseases
IKBKB p.Gln519His Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gln556Arg Uncertain significance Single submitter
IKBKB p.Gln556Leu Uncertain significance Single submitter
IKBKB p.Gln581Pro Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gln611Arg Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gln724Arg Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gln730Arg Uncertain significance Single submitter
Inborn genetic diseases
IKBKB p.Gln730Glu Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gln730His Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Glu240Lys Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Glu352Asp Uncertain significance Single submitter
Inborn genetic diseases
IKBKB p.Glu36Gly Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Glu398Lys Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Glu518Lys Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Glu522Asp Uncertain significance Single submitter
Inborn genetic diseases
IKBKB p.Glu535Gln Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Glu564Lys Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Glu569Asp Uncertain significance Single submitter
IKBKB p.Glu569Gly Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Glu638Gly Uncertain significance Single submitter
Inborn genetic diseases
IKBKB p.Glu720Lys Uncertain significance Single submitter
Inborn genetic diseases
IKBKB p.Glu729Lys Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Glu745Asp Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Glu753Gly Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Glu81Gln Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gly120Asp Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gly120Ser Uncertain significance Single submitter
IKBKB p.Gly13Glu Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gly156Ala Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gly251Ala Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gly358Asp Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gly374Ala Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gly374Arg Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gly379Asp Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gly379Val Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gly553Ala Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gly557Arg Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gly557Trp Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gly558Val Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gly667Ala Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.His713Arg Uncertain significance Single submitter
Inborn genetic diseases
IKBKB p.Ile129Val Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Ile151Val Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Ile306Val Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Ile30Met Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Ile314Val Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Ile362Met Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Ile362Val Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Ile371Thr Uncertain significance Single submitter
IKBKB-related disorder
IKBKB p.Ile413Asn Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Ile41Thr Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Ile490Val Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Ile723Met Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Ile723Val Uncertain significance Single submitter
Inborn genetic diseases
IKBKB p.Leu414Val Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Leu494Met Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Leu511Pro Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Leu623Pro Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Leu635Val Uncertain significance Single submitter
Inborn genetic diseases
IKBKB p.Leu681Phe Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Leu68Arg Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Leu719Pro Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Leu752Gln Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Lys234Glu Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency

Predictors split 47

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

IKBKB p.Ala132Val Uncertain significance Multiple submitters
immunodeficiency 15a
IKBKB p.Arg579Gln Uncertain significance Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Arg77Gln Uncertain significance Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Asn225Lys Uncertain significance Multiple submitters
Inborn genetic diseases
IKBKB p.Asn263Ser Uncertain significance Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Asp174Glu Uncertain significance Multiple submitters
Inborn genetic diseases
IKBKB p.Asp391Glu Uncertain significance Multiple submitters
immunodeficiency 15a
IKBKB p.His313Arg Uncertain significance Multiple submitters
Inborn genetic diseases
IKBKB p.Val203Ile Pathogenic Multiple submitters
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Ala367Thr Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Arg339Thr Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Arg549Ser Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Arg572Gly Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Arg666Cys Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Arg666His Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Asn54Lys Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Asp546Gly Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Asp639Gly Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gln48His Uncertain significance Single submitter
Inborn genetic diseases
IKBKB p.Gln500His Uncertain significance Single submitter
IKBKB p.Gln541His Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Glu172Lys Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Glu274Lys Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Glu499Lys Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Gly553Asp Uncertain significance Single submitter
Inborn genetic diseases
IKBKB p.Ile314Thr Likely benign Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Leu193Val Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Leu414Phe Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Leu459Phe Uncertain significance Single submitter
Inborn genetic diseases
IKBKB p.Lys171Arg Conflicting Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Met280Ile Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Met468Ile Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Met472Ile Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Met517Thr Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Met590Thr Uncertain significance Single submitter
Inborn genetic diseases
IKBKB p.Pro668Leu Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Pro668Ser Uncertain significance Single submitter
IKBKB p.Ser256Leu Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Ser489Gly Uncertain significance Single submitter
immunodeficiency 15a
IKBKB p.Ser507Leu Uncertain significance Single submitter
IKBKB p.Ser507Pro Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Ser587Arg Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Thr324Ile Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Thr344Met Conflicting Single submitter
Inborn genetic diseases
IKBKB p.Tyr571Cys Uncertain significance Single submitter
IKBKB p.Tyr571His Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency
IKBKB p.Val235Met Uncertain significance Single submitter
severe combined immunodeficiency due to IKK2 deficiency

All IKBKB variants

Pathogenic 18

p.Arg286Ter Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Val203Ile Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg272Ter Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Arg536_Met537insTer Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Arg55Ter Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Arg579Ter Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Cys464Ter Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Gln425Ter Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Gln477Ter Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Gln566Ter Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Gln588Ter Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Glu569Ter Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Glu706fs Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Pro578fs Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Thr9fs Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Val616fs Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Val643fs Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Gln432fs No assertion criteria IKBKB-related disorder

Likely pathogenic 17

c.1125+1G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1241-2A>C Single submitter IKBKB-related disorder
c.1365-2A>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1516+5G>A Single submitter
c.1739-1G>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.201-1G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.2115-1G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.2205+2T>C Single submitter severe combined immunodeficiency
c.477+2T>C Single submitter
c.567+1G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Arg460Ter Single submitter
p.Arg680Ter Single submitter
p.Arg77Ter Single submitter immunodeficiency 15a
p.Asn308fs Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Gly558fs Single submitter severe combined immunodeficiency
p.Ser4Ter Single submitter IKBKB-related disorder
p.Trp283Ter Single submitter severe combined immunodeficiency due to IKK2 deficiency

Conflicting classifications of pathogenicity 19

c.105+8C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1364+6G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1365-14T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.2114+3A>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.318+6G>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.931-13G>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Arg404Gln Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg645Trp Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Asn696Ser Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Cys464Arg Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gln448Ter Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Glu329= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Glu502Lys Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gly374Ser Single submitter Inborn genetic diseases ⚠
p.Lys171Arg Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Met83Val Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Pro296Leu Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Thr344Met Single submitter Inborn genetic diseases ⚠
p.Tyr397Cys Single submitter severe combined immunodeficiency due to IKK2 deficiency

Benign 32

c.1579-122G>C Multiple submitters
c.1579-152C>T Multiple submitters
c.2114+319C>A Multiple submitters
c.2115-63T>C Multiple submitters
c.318+103G>A Multiple submitters
c.318+258G>A Multiple submitters
c.388+20T>G Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
c.478-192G>A Multiple submitters
c.800+70C>G Multiple submitters
c.-18-96A>T Multiple submitters
c.-64C>T Multiple submitters
c.*53A>G Multiple submitters
p.Arg526Gln Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Leu361= Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
c.106-231del Single submitter
c.1240+20del Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1241-269G>A Single submitter
c.1364+23del Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1579-8dup Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.200+14G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.2115-151G>A Single submitter
c.389-11del Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.568-326C>G Single submitter
c.801-281_801-280insC Single submitter
c.801-287del Single submitter
c.931-7G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.-13G>A Single submitter
c.*239C>A Single submitter
p.Ala736Thr Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.His713= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Ser675Gly Single submitter
c.-40T>C No assertion criteria IKBKB-related disorder

Benign/Likely benign 13

c.1240+14A>T Multiple submitters immunodeficiency 15a
c.1364+23dup Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
c.1739-9T>C Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
c.-19+8C>T Multiple submitters
p.Ala710Thr Multiple submitters immunodeficiency 15a
p.Arg536Trp Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Arg568= Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Asp373= Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Leu160= Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Met676Ile Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Ser489= Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Thr293= Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Val244= Multiple submitters severe combined immunodeficiency due to IKK2 deficiency

Likely benign 441

Showing the top 300 by review status; the full set is in the sitemap.

c.105+16A>T Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
c.1125+14T>G Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
c.1125+16G>A Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
c.1126-4G>A Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
c.1688+11G>T Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
c.1838+12G>A Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
c.1987-16T>C Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
c.200+13C>T Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
c.200+19G>C Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
c.2114+18G>C Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
c.2115-16T>C Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
c.2115-8T>C Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
c.318+18G>T Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
c.319-20G>C Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
c.388+9C>T Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
c.567+19del Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
c.568-19C>A Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
c.692+16G>C Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
c.693-10A>G Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
c.693-14A>G Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Ala132= Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Ala722= Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Ala755Ser Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Ala87= Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Arg31= Multiple submitters Inborn genetic diseases
p.Arg55= Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Gln155= Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Gly557= Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Ile151= Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Lys482= Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Phe208= Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Phe601= Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Phe734Leu Multiple submitters Inborn genetic diseases
p.Pro363= Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Pro405= Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Ser246= Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Thr200= Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Thr217= Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Thr37= Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Thr693= Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Val203= Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
c.105+10C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.105+18C>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.105+18del Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.105+19T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.106-10G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.106-15G>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.106-16T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.106-4G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.106-4G>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.106-7T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1125+15C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1125+20A>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1126-12G>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1126-13T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1126-8C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1240+10T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1240+14_1240+18del Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1240+20T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1240+9_1240+13dup Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1241-12C>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1241-18T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1241-20G>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1241-5T>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1241-5T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1241-8G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1241-8G>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1364+11A>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1364+13G>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1364+13G>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1364+15T>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1364+16_1364+17insG Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1364+16T>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1364+18T>G Single submitter
c.1364+19T>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1365-13G>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1365-15T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1365-16C>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1365-17C>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1365-6C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1365-7C>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1365-7C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1516+12C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1516+18A>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1516+20T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1516+7G>A Single submitter
c.1517-10_1517-9insG Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1517-11T>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1517-12A>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1517-18T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1517-4T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1578+10T>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1578+15T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1578+7G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1579-16A>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1579-20T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1579-20T>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1579-5A>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1579-6C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1688+17G>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1688+18G>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1688+19G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1688+19G>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1688+20C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1688+8C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1689-11G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1689-12T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1689-15C>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1689-16T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1738+10G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1738+14T>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1738+15G>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1738+18T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1738+19C>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1738+8G>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1738+9G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1739-11C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1739-12C>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1739-15C>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1739-15C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1739-4C>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1739-4C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1838+11C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1838+17_1838+38dup Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1838+7G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1838+7G>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1838+8C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1839-11A>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1839-16T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1839-20G>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1839-7T>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1839-9T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1986+14G>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1986+16G>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1986+17G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1986+18T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1986+8_1986+11del Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1987-14A>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1987-15G>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1987-17_1987-16del Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1987-17T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.200+11C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.200+12G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.200+12G>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.200+13C>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.200+14G>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.200+14G>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.200+15C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.200+16A>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.200+16A>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.200+18A>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.200+7G>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.200+8C>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.201-11C>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.201-17G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.201-18C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.201-19T>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.201-19T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.201-20A>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.201-6T>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.201-7C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.2114+12T>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.2114+14A>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.2114+15G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.2114+16C>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.2114+16C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.2114+19T>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.2114+19T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.2114+7C>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.2115-11A>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.2115-12C>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.2115-17T>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.2205+12T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.2205+15G>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.2205+20T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.2205+8C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.2206-12G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.2206-13T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.2206-17T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.2206-19C>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.2206-19C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.318+13C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.318+14G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.318+16C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.319-10T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.319-6T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.388+10A>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.388+13C>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.388+15C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.388+16G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.388+18A>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.389-11C>G Single submitter
c.389-13C>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.389-14C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.389-15C>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.389-16C>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.389-16C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.389-20C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.477+10C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.477+12C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.477+18A>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.477+19C>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.477+7G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.477+8A>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.478-16C>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.478-18T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.567+10G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.567+12G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.567+12G>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.567+16T>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.567+18C>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.567+7A>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.568-11T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.568-14dup Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.568-16C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.568-17C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.568-20A>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.568-4G>A Single submitter
c.568-8T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.568-9T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.692+11C>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.692+12C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.692+12dup Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.692+13G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.692+14G>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.692+7G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.693-13T>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.693-15G>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.693-16A>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.693-6T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.693-7T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.693-9T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.800+10A>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.800+11G>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.800+12C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.800+13G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.800+13G>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.800+21del Single submitter
c.801-12T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.801-16A>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.801-19A>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.801-5C>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.801-9T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.930+17G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.930+19T>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.930+7G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.931-12G>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.931-12G>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.931-18A>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.931-18A>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.931-19C>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.931-20A>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.931-6T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.-106G>A Single submitter
c.-107G>C Single submitter
c.-19+18G>A Single submitter
c.-2G>T Single submitter
c.-36C>T Single submitter
c.-67C>G Single submitter
c.*13C>T Single submitter
p.Ala130= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Ala14= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Ala212= Single submitter
p.Ala357= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Ala360= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Ala42= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Ala453= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Ala520= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Ala567= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Ala622= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Ala694= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Arg105= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Arg134= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Arg144= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Arg427= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Arg446= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Arg536= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Arg573= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Arg575= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Arg728= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Asn225= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Asn264= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Asn297= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Asn528= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Asp128= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Asp493= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Asp561= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Asp562= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Asp738Asn Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Cys179= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Cys370= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Cys524= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Cys59= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Gln230= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Gln278= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Gln341= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Gln369= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Gln406= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Gln451= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Gln477= Single submitter severe combined immunodeficiency due to IKK2 deficiency

Uncertain significance 289

p.Ala132Val Multiple submitters immunodeficiency 15a ⚠
p.Ala422Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala454Thr Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ala702Thr Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg105Trp Multiple submitters immunodeficiency 15a ⚠
p.Arg419Gly Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg446Trp Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg579Gln Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg606Gln Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg77Gln Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Asn225Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn263Ser Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Asn377Ser Multiple submitters immunodeficiency 15a ⚠
p.Asp174Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp248His Multiple submitters severe combined immunodeficiency due to IKK2 deficiency
p.Asp364Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp391Glu Multiple submitters immunodeficiency 15a ⚠
p.Gln110Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln369Arg Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gln400His Multiple submitters IKBKB-related disorder ⚠
p.Gln743Leu Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Glu119Asp Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Glu271Ala Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Glu408Ala Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Glu707Lys Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Glu729Gln Multiple submitters Inborn genetic diseases ⚠
p.His313Arg Multiple submitters Inborn genetic diseases ⚠
p.Leu560Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu7Met Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Lys106Arg Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Met475Thr Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Met552Val Multiple submitters immunodeficiency 15a ⚠
p.Pro5Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser489Ile Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Thr217Met Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Thr290Met Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Thr293Met Multiple submitters Inborn genetic diseases ⚠
p.Thr559Ala Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Thr559Met Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Thr693Met Multiple submitters Inborn genetic diseases ⚠
p.Tyr205His Multiple submitters Inborn genetic diseases ⚠
p.Val183Met Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Val534Ile Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Val607Leu Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Val607Met Multiple submitters severe combined immunodeficiency due to IKK2 deficiency ⚠
c.106-3T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1125+5G>A Single submitter
c.1126-11T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1364+5C>T Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1517-3C>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1517-5T>C Single submitter
c.1578+11C>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1579-15C>G Single submitter
c.1688+5G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1689-15_1689-13del Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.1986+7G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.2115-3T>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.2205+6A>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.477+4A>G Single submitter
c.692+5G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.692+5G>C Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.800+3A>G Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.800+5G>A Single submitter severe combined immunodeficiency due to IKK2 deficiency
c.-60G>T Single submitter
p.Ala170Val Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ala270Gly Single submitter Inborn genetic diseases ⚠
p.Ala302Val Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ala360Val Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ala367Thr Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ala453Thr Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ala539Gly Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ala567Ser Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ala622Val Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ala736Gly Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ala755Thr Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ala87Val Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg105Gln Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg118Gln Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg20Leu Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Arg220Gln Single submitter ⚠
p.Arg236Gln Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg272Gln Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg286Gln Single submitter ⚠
p.Arg31Gln Single submitter Inborn genetic diseases ⚠
p.Arg339Thr Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg446Gln Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg47Trp Single submitter ⚠
p.Arg526Trp Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg536Gln Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg536Gly Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg53Trp Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg549Ser Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg554Gln Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg554Trp Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg55Gln Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg572Gly Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg57Gln Single submitter ⚠
p.Arg606Gly Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg645Gln Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg650Trp Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg666Cys Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Arg666His Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Asn225Ser Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Asn225Thr Single submitter Inborn genetic diseases ⚠
p.Asn308Lys Single submitter Inborn genetic diseases ⚠
p.Asn392His Single submitter ⚠
p.Asn54Lys Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Asn72Ser Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Asn89Ser Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Asp291Tyr Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Asp343Asn Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Asp373His Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Asp391Gly Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Asp484Gly Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Asp543Asn Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Asp546Gly Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Asp639Gly Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Cys114Tyr Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Cys412Ser Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Cys524Arg Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Cys662= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Cys99Tyr Single submitter ⚠
p.Gln154Arg Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gln197Lys Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gln415Arg Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gln451Glu Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gln48His Single submitter Inborn genetic diseases ⚠
p.Gln491Arg Single submitter Inborn genetic diseases ⚠
p.Gln500His Single submitter ⚠
p.Gln519His Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gln541His Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gln556Arg Single submitter ⚠
p.Gln556Leu Single submitter ⚠
p.Gln581Pro Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gln611Arg Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gln724Arg Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gln730Arg Single submitter Inborn genetic diseases ⚠
p.Gln730Glu Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gln730His Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gln754_Ala755insGln Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Gln754Ter Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Glu172Lys Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Glu240Lys Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Glu247Lys Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Glu274Lys Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Glu352Asp Single submitter Inborn genetic diseases ⚠
p.Glu36Gly Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Glu398Lys Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Glu499Lys Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Glu518Lys Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Glu518Val Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Glu522Asp Single submitter Inborn genetic diseases ⚠
p.Glu535Gln Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Glu564Lys Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Glu569Asp Single submitter ⚠
p.Glu569Gly Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Glu638Gly Single submitter Inborn genetic diseases ⚠
p.Glu720Lys Single submitter Inborn genetic diseases ⚠
p.Glu729Lys Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Glu745Asp Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Glu748del Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Glu748Ter Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Glu753Gly Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Glu81Gln Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gly120Asp Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gly120Ser Single submitter ⚠
p.Gly13Glu Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gly156Ala Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gly251Ala Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gly358Asp Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gly374Ala Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gly374Arg Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gly379Asp Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gly379Val Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gly553Ala Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gly553Asp Single submitter Inborn genetic diseases ⚠
p.Gly557Arg Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gly557Trp Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gly558Val Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Gly667Ala Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.His713Arg Single submitter Inborn genetic diseases ⚠
p.Ile122= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Ile129Val Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ile151Val Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ile306Val Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ile30Met Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ile314Val Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ile362Met Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ile362Val Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ile371Thr Single submitter IKBKB-related disorder ⚠
p.Ile413Asn Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ile41Thr Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ile490Val Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ile723Met Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ile723Val Single submitter Inborn genetic diseases ⚠
p.Leu193Val Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Leu414Phe Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Leu414Val Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Leu459Phe Single submitter Inborn genetic diseases ⚠
p.Leu494Met Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Leu511Pro Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Leu623Pro Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Leu635Val Single submitter Inborn genetic diseases ⚠
p.Leu681Phe Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Leu68Arg Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Leu719Pro Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Leu742_Thr744dup Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Leu752fs Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Leu752Gln Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Lys234Glu Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Lys238Gln Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Lys301Arg Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Lys375Thr Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Lys480Arg Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Lys555Glu Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Lys628Asn Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Lys704Asn Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Met280Ile Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Met317Thr Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Met468Ile Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Met472Ile Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Met517Thr Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Met552Thr Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Met590Thr Single submitter Inborn genetic diseases ⚠
p.Met676Arg Single submitter IKBKB-related disorder ⚠
p.Met96Thr Single submitter Inborn genetic diseases ⚠
p.Met96Val Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Phe390= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Pro285Arg Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Pro366Leu Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Pro403Ser Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Pro405Leu Single submitter Inborn genetic diseases ⚠
p.Pro5Thr Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Pro668Leu Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Pro668Ser Single submitter ⚠
p.Pro71Leu Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Pro71Ser Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ser127Asn Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ser256Leu Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ser257Gly Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ser402Cys Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ser436Gly Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ser471Cys Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ser489Gly Single submitter immunodeficiency 15a ⚠
p.Ser507Leu Single submitter ⚠
p.Ser507Pro Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ser587Arg Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ser587Gly Single submitter ⚠
p.Ser600Gly Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ser672Gly Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ser679Phe Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ser692Ala Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ser692Thr Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ser695Pro Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ser695Thr Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ser697Thr Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Ser740Arg Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Ter757Arg Single submitter
p.Thr11Ile Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Thr185Asn Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Thr252Met Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Thr319Met Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Thr324Ile Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Thr439Ile Single submitter Inborn genetic diseases ⚠
p.Thr559Ser Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Thr610Met Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Thr693Ala Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Thr735Lys Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Thr744Met Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Trp3Leu Single submitter Inborn genetic diseases ⚠
p.Tyr294Cys Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Tyr571Cys Single submitter ⚠
p.Tyr571His Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Tyr609Cys Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Val201Met Single submitter ⚠
p.Val235Met Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Val244Ile Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Val253Leu Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Val605Leu Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Val616= Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Val617Ile Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Val629Met Single submitter Inborn genetic diseases ⚠
p.Val632Ala Single submitter Inborn genetic diseases ⚠
p.Val644Ile Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Val669Leu Single submitter severe combined immunodeficiency due to IKK2 deficiency ⚠
p.Val709Met Single submitter ⚠
p.Val727fs Single submitter severe combined immunodeficiency due to IKK2 deficiency
p.Val73Met Single submitter Inborn genetic diseases ⚠
c.-24C>G No assertion criteria IKBKB-related disorder