NFKB2 — 734 ClinVar variants
All ClinVar germline NFKB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 279 flagged for review →
9 Pathogenic · 1 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 16 Conflicting · 19 Benign · 16 Benign/Likely benign · 328 Likely benign · 335 Uncertain significance
Full NFKB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 279
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
Predictors agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
NFKB2 p.Arg579His
Conflicting
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Arg725Gln
Conflicting
Single submitter
Inborn genetic diseases
-
NFKB2 p.Gly893Arg
Conflicting
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.His512Tyr
Conflicting
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Pro430Ser
Conflicting
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Ser715Leu
Conflicting
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Thr665Ser
Conflicting
Single submitter
immunodeficiency, common variable, 10
Predictors lean, ClinVar uncertain 215
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 215
-
NFKB2 p.Ala121Thr
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.Ala363Thr
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.Ala475Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NFKB2 p.Ala572Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NFKB2 p.Ala574Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NFKB2 p.Ala588Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NFKB2 p.Ala860Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NFKB2 p.Arg261Trp Uncertain significance Multiple submitters
-
NFKB2 p.Arg456Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NFKB2 p.Arg459Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NFKB2 p.Arg459Gly
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.Arg611Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NFKB2 p.Arg658Gln
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.Asn660Lys
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.Gln591Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NFKB2 p.Glu576Gln
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.Glu878Asp
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.Gly784Arg
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.His695Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NFKB2 p.Ile151Met
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.Leu581Val
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.Met838Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NFKB2 p.Pro437Leu
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.Pro884Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NFKB2 p.Pro886Gln
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.Pro897Ser
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.Ser622Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NFKB2 p.Ser717Pro
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.Ser762Asn
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.Ser820Asn
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.Thr684Pro
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.Tyr294Cys
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.Tyr388Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NFKB2 p.Val25Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NFKB2 p.Ala31Gly
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Ala342Pro
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Ala363Val
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Ala364Thr
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Ala458Val
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Ala468Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NFKB2 p.Ala470Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NFKB2 p.Ala472Thr
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Ala475Thr
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Ala514Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NFKB2 p.Ala534Val
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Ala563Pro
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Ala570Thr
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Ala572Gly
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
- NFKB2 p.Ala580Gly Uncertain significance Single submitter
-
NFKB2 p.Ala610Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NFKB2 p.Ala610Thr
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Ala628Val
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Ala663Ser
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Ala663Val
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Ala750Gly
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Arg103Cys
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Arg158Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
NFKB2 p.Arg160Cys
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Arg160His
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Arg172Gln
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Arg301Gln
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
- NFKB2 p.Arg311Cys Uncertain significance Single submitter
-
NFKB2 p.Arg52Gln
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Arg548Gln
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Arg558Gln
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Arg569Gln
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Arg579Cys
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
- NFKB2 p.Arg609Gly Uncertain significance Single submitter
-
NFKB2 p.Arg631Gln
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Arg631Leu
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Arg664Cys
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Arg664His
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Arg685Gly
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Arg729Gln
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Arg74Gln
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Arg797His
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Arg801Cys
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Arg801His
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Arg808Gln
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Arg808Gly
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Arg845Lys
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Arg853Gln
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
- NFKB2 p.Asn6Ile Uncertain significance Single submitter
- NFKB2 p.Asp36Asn Uncertain significance Single submitter
-
NFKB2 p.Asp485Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NFKB2 p.Asp561Asn
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Asp621Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- NFKB2 p.Asp735Glu Uncertain significance Single submitter
-
NFKB2 p.Asp783Asn
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Asp783Glu
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Asp827Asn
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Asp837Val
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Asp854Asn
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Asp854His
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Asp865His
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Cys891Arg
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Gln455Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NFKB2 p.Gln515Pro
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Gln898Arg
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
- NFKB2 p.Glu177Gln Uncertain significance Single submitter
-
NFKB2 p.Glu180Lys
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Glu29Gln
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Glu2Lys
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
- NFKB2 p.Glu833Gln Uncertain significance Single submitter
-
NFKB2 p.Glu833Gly
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Glu864Lys
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Glu86Lys
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Glu874Gly
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Gly137Val
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Gly352Ser
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Gly362Arg
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Gly365Arg
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Gly366Ala
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Gly368Glu
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Gly452Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NFKB2 p.Gly452Ser
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Gly488Glu
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
- NFKB2 p.Gly499Arg Uncertain significance Single submitter
-
NFKB2 p.Gly518Asp
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Gly518Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NFKB2 p.Gly573Asp
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Gly573Ser
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Gly600Arg
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Gly600Glu
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Gly691Asp
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Gly719Glu
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Gly830Ser
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Gly839Ser
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Gly849Val
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Gly881Asp
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.His355Gln
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.His512Asp
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.His527Gln
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.His594Arg
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.His652Tyr
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.His892Tyr
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.His98Asn
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Ile12Val
Uncertain significance
Single submitter
NFKB2-related disorder
-
NFKB2 p.Ile189Val
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Ile213Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NFKB2 p.Ile507Val
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
- NFKB2 p.Leu174Pro Uncertain significance Single submitter
-
NFKB2 p.Leu328Pro
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Leu522Ile
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Leu566Val
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Leu678Val
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Leu770Phe
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Leu778Met
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Leu778Pro
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Leu818Pro
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
Predictors split 56
The independent predictors disagree with each other — read with care.
-
NFKB2 p.Ala696Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NFKB2 p.Arg158Trp
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.Arg49Thr
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.Arg631Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NFKB2 p.Arg819Cys
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.Asp469Glu
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.Gln48Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NFKB2 p.Gly351Arg
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.Met146Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NFKB2 p.Pro587Leu
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.Pro850Leu
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.Thr540Met
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.Thr732Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NFKB2 p.Val844Ala
Uncertain significance
Multiple submitters
immunodeficiency, common variable, 10
-
NFKB2 p.Ala454Pro
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Ala460Thr
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
- NFKB2 p.Ala468Glu Uncertain significance Single submitter
-
NFKB2 p.Ala567Val
Conflicting
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Ala867Val
Conflicting
Single submitter
immunodeficiency, common variable, 10
- NFKB2 p.Arg172Trp Uncertain significance Single submitter
-
NFKB2 p.Arg337Gln
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
- NFKB2 p.Arg339Gln Uncertain significance Single submitter
-
NFKB2 p.Arg558Trp
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Arg635Gln
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Arg658Trp
Conflicting
Single submitter
immunodeficiency, common variable, 10
- NFKB2 p.Asn487Lys Uncertain significance Single submitter
-
NFKB2 p.Asp316Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NFKB2 p.Asp331Glu
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
- NFKB2 p.Asp714Tyr Uncertain significance Single submitter
-
NFKB2 p.Asp716Tyr
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
- NFKB2 p.Gln48Lys Uncertain significance Single submitter
- NFKB2 p.Glu267Ala Uncertain significance Single submitter
-
NFKB2 p.Glu646Lys
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Glu822Lys
Conflicting
Single submitter
Inborn genetic diseases
-
NFKB2 p.Glu92Asp
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Gly315Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NFKB2 p.Gly353Asp
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Gly499Glu
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Gly550Ser
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
- NFKB2 p.Gly633Arg Uncertain significance Single submitter
-
NFKB2 p.Gly826Arg
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Leu582Phe
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Lys296Asn
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
- NFKB2 p.Phe205Leu Uncertain significance Single submitter
-
NFKB2 p.Phe350Leu
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Phe379Leu
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Ser115Leu
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Ser457Arg
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Ser584Thr
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Ser711Cys
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Ser866Asn
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Tyr868Asn
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Tyr868Cys
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
-
NFKB2 p.Val124Met
Uncertain significance
Single submitter
immunodeficiency, common variable, 10
- NFKB2 p.Val190Ala Uncertain significance Single submitter
-
NFKB2 p.Val80Leu
Uncertain significance
Single submitter
Inborn genetic diseases
All NFKB2 variants
Pathogenic 9
- c.1469+1G>T Multiple submitters Inherited Immunodeficiency Diseases
- p.Arg853Ter Multiple submitters NFKB2-related disorder
- p.Gln871Ter Multiple submitters immunodeficiency, common variable, 10
- p.Arg313Ter Single submitter
- p.Arg635Ter Single submitter Inherited Immunodeficiency Diseases
- p.Gly869fs Single submitter immunodeficiency, common variable, 10
- p.Ser866fs Single submitter immunodeficiency, common variable, 10
- p.Arg853fs No assertion criteria immunodeficiency, common variable, 10
- p.Lys855fs No assertion criteria immunodeficiency, common variable, 10
Pathogenic/Likely pathogenic 1
- p.Asp865Gly Multiple submitters immunodeficiency, common variable, 10
Likely pathogenic 10
- c.104-1G>C Single submitter immunodeficiency, common variable, 10
- p.Asp865fs Single submitter immunodeficiency, common variable, 10
- p.Gln455fs Single submitter immunodeficiency, common variable, 10
- p.Leu473fs Single submitter
- p.Ser858fs Single submitter NFKB2-related disorder
- p.Ser870Asn Single submitter ⚠
- p.Thr810fs Single submitter immunodeficiency, common variable, 10
- p.Thr859fs Single submitter immunodeficiency, common variable, 10
- p.Tyr868Ter Single submitter NFKB2-related disorder
- p.Arg725Ter No assertion criteria NFKB2-related disorder
Conflicting classifications of pathogenicity 16
- c.1470-7C>T Single submitter immunodeficiency, common variable, 10
- c.2072-3C>T Single submitter immunodeficiency, common variable, 10
- c.502+16dup Single submitter immunodeficiency, common variable, 10
- p.Ala567Val Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ala867Val Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg579His Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg658Trp Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg725Gln Single submitter Inborn genetic diseases ⚠
- p.Glu646= Single submitter immunodeficiency, common variable, 10
- p.Glu822Lys Single submitter Inborn genetic diseases ⚠
- p.Gly893Arg Single submitter immunodeficiency, common variable, 10 ⚠
- p.His512Tyr Single submitter immunodeficiency, common variable, 10 ⚠
- p.Pro430Ser Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ser715Leu Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ser866= Single submitter immunodeficiency, common variable, 10
- p.Thr665Ser Single submitter immunodeficiency, common variable, 10 ⚠
Benign 19
- c.243+20G>C Multiple submitters immunodeficiency, common variable, 10
- c.2467-9T>A Multiple submitters immunodeficiency, common variable, 10
- p.Leu747= Multiple submitters immunodeficiency, common variable, 10
- c.1118-112C>G Single submitter
- c.145-89dup Single submitter
- c.1584+11G>A Single submitter immunodeficiency, common variable, 10
- c.1584+9dup Single submitter immunodeficiency, common variable, 10
- c.2579-42T>C Single submitter
- c.395+99A>G Single submitter
- c.503-16T>C Single submitter immunodeficiency, common variable, 10
- c.853-3del Single submitter immunodeficiency, common variable, 10
- c.853-3dup Single submitter immunodeficiency, common variable, 10
- c.853-8C>A Single submitter immunodeficiency, common variable, 10
- c.-72-251C>A Single submitter
- c.-72-473G>A Single submitter
- p.Ala607= Single submitter immunodeficiency, common variable, 10
- p.His513= Single submitter immunodeficiency, common variable, 10
- p.Thr651= Single submitter immunodeficiency, common variable, 10
- p.Tyr326= Single submitter immunodeficiency, common variable, 10
Benign/Likely benign 16
- c.1117+7G>T Multiple submitters immunodeficiency, common variable, 10
- c.1969-17G>A Multiple submitters immunodeficiency, common variable, 10
- c.21+13G>A Multiple submitters immunodeficiency, common variable, 10
- c.2224-10G>A Multiple submitters immunodeficiency, common variable, 10
- c.2224-15C>T Multiple submitters immunodeficiency, common variable, 10
- c.502+22_502+45del Multiple submitters immunodeficiency, common variable, 10
- c.503-17A>G Multiple submitters immunodeficiency, common variable, 10
- c.767-13G>A Multiple submitters immunodeficiency, common variable, 10
- p.Arg609Gln Multiple submitters immunodeficiency, common variable, 10
- p.Asn698= Multiple submitters immunodeficiency, common variable, 10
- p.Cys432= Multiple submitters immunodeficiency, common variable, 10
- p.Gly623= Multiple submitters immunodeficiency, common variable, 10
- p.Gly825= Multiple submitters immunodeficiency, common variable, 10
- p.Leu307= Multiple submitters immunodeficiency, common variable, 10
- p.Pro423= Multiple submitters immunodeficiency, common variable, 10
- p.Val654= Multiple submitters immunodeficiency, common variable, 10
Likely benign 328
Showing the top 300 by review status; the full set is in the sitemap.
- c.1117+9G>A Multiple submitters immunodeficiency, common variable, 10
- c.1470-16G>A Multiple submitters immunodeficiency, common variable, 10
- c.1968+12G>A Multiple submitters immunodeficiency, common variable, 10
- c.244-11G>A Multiple submitters immunodeficiency, common variable, 10
- c.396-16G>A Multiple submitters immunodeficiency, common variable, 10
- c.503-5C>T Multiple submitters immunodeficiency, common variable, 10
- c.767-14C>T Multiple submitters immunodeficiency, common variable, 10
- c.852+24_852+29del Multiple submitters immunodeficiency, common variable, 10
- c.853-14C>T Multiple submitters immunodeficiency, common variable, 10
- c.992-12C>G Multiple submitters immunodeficiency, common variable, 10
- p.Ala364= Multiple submitters immunodeficiency, common variable, 10
- p.Ala460= Multiple submitters immunodeficiency, common variable, 10
- p.Ala750Val Multiple submitters immunodeficiency, common variable, 10
- p.Arg414= Multiple submitters immunodeficiency, common variable, 10
- p.Asn487= Multiple submitters immunodeficiency, common variable, 10
- p.Asp280= Multiple submitters immunodeficiency, common variable, 10
- p.Asp316= Multiple submitters immunodeficiency, common variable, 10
- p.Asp723Asn Multiple submitters Inborn genetic diseases
- p.Gly784= Multiple submitters immunodeficiency, common variable, 10
- p.His894= Multiple submitters immunodeficiency, common variable, 10
- p.Ile91= Multiple submitters immunodeficiency, common variable, 10
- p.Leu40= Multiple submitters immunodeficiency, common variable, 10
- p.Leu462= Multiple submitters immunodeficiency, common variable, 10
- p.Leu592= Multiple submitters immunodeficiency, common variable, 10
- p.Leu705Val Multiple submitters immunodeficiency, common variable, 10
- p.Lys689= Multiple submitters immunodeficiency, common variable, 10
- p.Pro530= Multiple submitters immunodeficiency, common variable, 10
- p.Pro757= Multiple submitters immunodeficiency, common variable, 10
- p.Pro766= Multiple submitters immunodeficiency, common variable, 10
- p.Ser115= Multiple submitters immunodeficiency, common variable, 10
- p.Ser22= Multiple submitters immunodeficiency, common variable, 10
- p.Ser3= Multiple submitters immunodeficiency, common variable, 10
- p.Ser713= Multiple submitters immunodeficiency, common variable, 10
- p.Thr540= Multiple submitters immunodeficiency, common variable, 10
- p.Tyr55= Multiple submitters immunodeficiency, common variable, 10
- c.103+10T>C Single submitter immunodeficiency, common variable, 10
- c.103+9G>A Single submitter immunodeficiency, common variable, 10
- c.104-5C>T Single submitter immunodeficiency, common variable, 10
- c.1117+12C>T Single submitter
- c.1117+15_1117+17del Single submitter immunodeficiency, common variable, 10
- c.1117+8G>C Single submitter immunodeficiency, common variable, 10
- c.1118-17C>A Single submitter immunodeficiency, common variable, 10
- c.1327+10C>A Single submitter immunodeficiency, common variable, 10
- c.1328-7C>T Single submitter immunodeficiency, common variable, 10
- c.144+17G>C Single submitter immunodeficiency, common variable, 10
- c.144+18_144+21del Single submitter immunodeficiency, common variable, 10
- c.145-15C>T Single submitter immunodeficiency, common variable, 10
- c.145-4T>G Single submitter immunodeficiency, common variable, 10
- c.145-5T>G Single submitter immunodeficiency, common variable, 10
- c.1469+12A>C Single submitter immunodeficiency, common variable, 10
- c.1469+13G>C Single submitter immunodeficiency, common variable, 10
- c.1469+19G>A Single submitter immunodeficiency, common variable, 10
- c.1469+9C>T Single submitter
- c.1470-15C>A Single submitter immunodeficiency, common variable, 10
- c.1470-15C>T Single submitter immunodeficiency, common variable, 10
- c.1470-17C>G Single submitter immunodeficiency, common variable, 10
- c.1470-8A>T Single submitter immunodeficiency, common variable, 10
- c.1584+10C>A Single submitter immunodeficiency, common variable, 10
- c.1584+10C>T Single submitter immunodeficiency, common variable, 10
- c.1584+20G>A Single submitter immunodeficiency, common variable, 10
- c.1584+20G>T Single submitter immunodeficiency, common variable, 10
- c.1584+9G>T Single submitter immunodeficiency, common variable, 10
- c.1585-16C>G Single submitter immunodeficiency, common variable, 10
- c.1585-17C>T Single submitter immunodeficiency, common variable, 10
- c.1585-8A>C Single submitter immunodeficiency, common variable, 10
- c.1798+21_1798+24del Single submitter immunodeficiency, common variable, 10
- c.1799-10G>A Single submitter immunodeficiency, common variable, 10
- c.1799-13C>T Single submitter immunodeficiency, common variable, 10
- c.1968+11G>A Single submitter immunodeficiency, common variable, 10
- c.1968+18G>A Single submitter immunodeficiency, common variable, 10
- c.1968+8T>C Single submitter immunodeficiency, common variable, 10
- c.1969-10G>A Single submitter immunodeficiency, common variable, 10
- c.1969-10G>T Single submitter immunodeficiency, common variable, 10
- c.1969-11C>T Single submitter immunodeficiency, common variable, 10
- c.1969-17G>C Single submitter immunodeficiency, common variable, 10
- c.1969-18C>T Single submitter immunodeficiency, common variable, 10
- c.1969-7C>T Single submitter immunodeficiency, common variable, 10
- c.2071+10del Single submitter immunodeficiency, common variable, 10
- c.2071+11C>T Single submitter immunodeficiency, common variable, 10
- c.2071+15C>T Single submitter immunodeficiency, common variable, 10
- c.2071+9C>T Single submitter immunodeficiency, common variable, 10
- c.2072-11C>A Single submitter immunodeficiency, common variable, 10
- c.2072-15G>A Single submitter immunodeficiency, common variable, 10
- c.2072-16G>A Single submitter immunodeficiency, common variable, 10
- c.2072-17C>T Single submitter immunodeficiency, common variable, 10
- c.2072-20T>C Single submitter immunodeficiency, common variable, 10
- c.21+15C>T Single submitter immunodeficiency, common variable, 10
- c.21+18C>T Single submitter immunodeficiency, common variable, 10
- c.2223+13C>T Single submitter immunodeficiency, common variable, 10
- c.2223+14G>A Single submitter immunodeficiency, common variable, 10
- c.2223+15G>A Single submitter immunodeficiency, common variable, 10
- c.2223+16G>C Single submitter immunodeficiency, common variable, 10
- c.2223+18C>T Single submitter immunodeficiency, common variable, 10
- c.2223+20A>G Single submitter immunodeficiency, common variable, 10
- c.2224-10del Single submitter immunodeficiency, common variable, 10
- c.2224-14G>A Single submitter immunodeficiency, common variable, 10
- c.2293+15G>A Single submitter immunodeficiency, common variable, 10
- c.2293+19C>T Single submitter immunodeficiency, common variable, 10
- c.2293+20C>T Single submitter immunodeficiency, common variable, 10
- c.2293+9C>T Single submitter immunodeficiency, common variable, 10
- c.2294-11G>A Single submitter immunodeficiency, common variable, 10
- c.2294-16T>C Single submitter immunodeficiency, common variable, 10
- c.2294-18T>C Single submitter immunodeficiency, common variable, 10
- c.2294-7C>T Single submitter immunodeficiency, common variable, 10
- c.2294-8C>T Single submitter immunodeficiency, common variable, 10
- c.244-11G>T Single submitter immunodeficiency, common variable, 10
- c.244-5C>T Single submitter immunodeficiency, common variable, 10
- c.2466+11C>A Single submitter immunodeficiency, common variable, 10
- c.2466+17C>T Single submitter immunodeficiency, common variable, 10
- c.2466+18C>T Single submitter immunodeficiency, common variable, 10
- c.2466+19T>C Single submitter immunodeficiency, common variable, 10
- c.2467-15C>T Single submitter immunodeficiency, common variable, 10
- c.2578+10C>T Single submitter immunodeficiency, common variable, 10
- c.2578+13C>T Single submitter immunodeficiency, common variable, 10
- c.2578+7G>A Single submitter immunodeficiency, common variable, 10
- c.2578+9G>A Single submitter immunodeficiency, common variable, 10
- c.2579-13C>G Single submitter immunodeficiency, common variable, 10
- c.2579-6C>A Single submitter immunodeficiency, common variable, 10
- c.2579-6C>T Single submitter immunodeficiency, common variable, 10
- c.395+10C>T Single submitter immunodeficiency, common variable, 10
- c.395+15C>A Single submitter immunodeficiency, common variable, 10
- c.395+15C>G Single submitter immunodeficiency, common variable, 10
- c.395+15C>T Single submitter immunodeficiency, common variable, 10
- c.395+16G>A Single submitter immunodeficiency, common variable, 10
- c.395+16G>T Single submitter immunodeficiency, common variable, 10
- c.395+18C>T Single submitter immunodeficiency, common variable, 10
- c.396-17C>T Single submitter
- c.396-19T>G Single submitter immunodeficiency, common variable, 10
- c.396-5C>T Single submitter immunodeficiency, common variable, 10
- c.396-7_396-6del Single submitter immunodeficiency, common variable, 10
- c.396-9T>C Single submitter immunodeficiency, common variable, 10
- c.502+11A>G Single submitter immunodeficiency, common variable, 10
- c.502+15G>A Single submitter immunodeficiency, common variable, 10
- c.502+16G>T Single submitter immunodeficiency, common variable, 10
- c.502+18G>A Single submitter immunodeficiency, common variable, 10
- c.502+20G>A Single submitter immunodeficiency, common variable, 10
- c.502+9G>A Single submitter immunodeficiency, common variable, 10
- c.503-10T>C Single submitter immunodeficiency, common variable, 10
- c.503-15G>A Single submitter immunodeficiency, common variable, 10
- c.503-7T>C Single submitter immunodeficiency, common variable, 10
- c.661+20G>A Single submitter immunodeficiency, common variable, 10
- c.766+10G>A Single submitter immunodeficiency, common variable, 10
- c.766+12G>A Single submitter immunodeficiency, common variable, 10
- c.766+12G>T Single submitter immunodeficiency, common variable, 10
- c.766+15C>T Single submitter immunodeficiency, common variable, 10
- c.766+19T>C Single submitter immunodeficiency, common variable, 10
- c.766+20T>C Single submitter immunodeficiency, common variable, 10
- c.766+8T>G Single submitter immunodeficiency, common variable, 10
- c.767-13G>C Single submitter immunodeficiency, common variable, 10
- c.767-20A>C Single submitter immunodeficiency, common variable, 10
- c.767-6T>C Single submitter immunodeficiency, common variable, 10
- c.767-7C>G Single submitter immunodeficiency, common variable, 10
- c.767-7C>T Single submitter immunodeficiency, common variable, 10
- c.767-8C>T Single submitter immunodeficiency, common variable, 10
- c.852+12T>C Single submitter immunodeficiency, common variable, 10
- c.852+13_852+18dup Single submitter immunodeficiency, common variable, 10
- c.852+13A>C Single submitter immunodeficiency, common variable, 10
- c.852+17C>T Single submitter immunodeficiency, common variable, 10
- c.852+18C>G Single submitter immunodeficiency, common variable, 10
- c.852+19C>A Single submitter immunodeficiency, common variable, 10
- c.852+19C>G Single submitter immunodeficiency, common variable, 10
- c.852+19C>T Single submitter immunodeficiency, common variable, 10
- c.852+20G>A Single submitter immunodeficiency, common variable, 10
- c.852+9G>A Single submitter immunodeficiency, common variable, 10
- c.853-11G>A Single submitter immunodeficiency, common variable, 10
- c.853-13C>T Single submitter immunodeficiency, common variable, 10
- c.853-15C>A Single submitter immunodeficiency, common variable, 10
- c.853-19G>A Single submitter immunodeficiency, common variable, 10
- c.853-8C>T Single submitter immunodeficiency, common variable, 10
- c.991+14G>A Single submitter immunodeficiency, common variable, 10
- c.992-14T>C Single submitter immunodeficiency, common variable, 10
- c.992-17T>C Single submitter immunodeficiency, common variable, 10
- c.992-5C>T Single submitter immunodeficiency, common variable, 10
- c.*76C>T Single submitter immunodeficiency, common variable, 10
- p.Ala169= Single submitter immunodeficiency, common variable, 10
- p.Ala178= Single submitter immunodeficiency, common variable, 10
- p.Ala196= Single submitter immunodeficiency, common variable, 10
- p.Ala363= Single submitter immunodeficiency, common variable, 10
- p.Ala370= Single submitter immunodeficiency, common variable, 10
- p.Ala458= Single submitter immunodeficiency, common variable, 10
- p.Ala472= Single submitter immunodeficiency, common variable, 10
- p.Ala534= Single submitter immunodeficiency, common variable, 10
- p.Ala554= Single submitter immunodeficiency, common variable, 10
- p.Ala567= Single submitter immunodeficiency, common variable, 10
- p.Ala659= Single submitter immunodeficiency, common variable, 10
- p.Ala676= Single submitter immunodeficiency, common variable, 10
- p.Ala867= Single submitter immunodeficiency, common variable, 10
- p.Arg158= Single submitter immunodeficiency, common variable, 10
- p.Arg191= Single submitter immunodeficiency, common variable, 10
- p.Arg193= Single submitter immunodeficiency, common variable, 10
- p.Arg313= Single submitter immunodeficiency, common variable, 10
- p.Arg340= Single submitter immunodeficiency, common variable, 10
- p.Arg456= Single submitter immunodeficiency, common variable, 10
- p.Arg685= Single submitter immunodeficiency, common variable, 10
- p.Arg853= Single submitter immunodeficiency, common variable, 10
- p.Asn134= Single submitter immunodeficiency, common variable, 10
- p.Asn135= Single submitter immunodeficiency, common variable, 10
- p.Asn268= Single submitter immunodeficiency, common variable, 10
- p.Asn660= Single submitter immunodeficiency, common variable, 10
- p.Asn662= Single submitter immunodeficiency, common variable, 10
- p.Asn6Asp Single submitter Inborn genetic diseases
- p.Asp552= Single submitter immunodeficiency, common variable, 10
- p.Asp561= Single submitter immunodeficiency, common variable, 10
- p.Asp716= Single submitter immunodeficiency, common variable, 10
- p.Asp723= Single submitter immunodeficiency, common variable, 10
- p.Asp783= Single submitter immunodeficiency, common variable, 10
- p.Cys120= Single submitter immunodeficiency, common variable, 10
- p.Cys615= Single submitter immunodeficiency, common variable, 10
- p.Gln157= Single submitter immunodeficiency, common variable, 10
- p.Gln215= Single submitter immunodeficiency, common variable, 10
- p.Gln308= Single submitter immunodeficiency, common variable, 10
- p.Gln515= Single submitter immunodeficiency, common variable, 10
- p.Glu2= Single submitter immunodeficiency, common variable, 10
- p.Glu486= Single submitter immunodeficiency, common variable, 10
- p.Glu630= Single submitter immunodeficiency, common variable, 10
- p.Glu643= Single submitter immunodeficiency, common variable, 10
- p.Glu755= Single submitter immunodeficiency, common variable, 10
- p.Glu796= Single submitter immunodeficiency, common variable, 10
- p.Glu833= Single submitter immunodeficiency, common variable, 10
- p.Glu874= Single submitter immunodeficiency, common variable, 10
- p.Gly203= Single submitter immunodeficiency, common variable, 10
- p.Gly224= Single submitter immunodeficiency, common variable, 10
- p.Gly315= Single submitter
- p.Gly401= Single submitter immunodeficiency, common variable, 10
- p.Gly465= Single submitter immunodeficiency, common variable, 10
- p.Gly499= Single submitter immunodeficiency, common variable, 10
- p.Gly518= Single submitter immunodeficiency, common variable, 10
- p.Gly571= Single submitter immunodeficiency, common variable, 10
- p.Gly59= Single submitter immunodeficiency, common variable, 10
- p.Gly73= Single submitter immunodeficiency, common variable, 10
- p.Gly815= Single submitter immunodeficiency, common variable, 10
- p.Gly826= Single submitter immunodeficiency, common variable, 10
- p.Gly839= Single submitter immunodeficiency, common variable, 10
- p.Gly869= Single submitter immunodeficiency, common variable, 10
- p.His105= Single submitter immunodeficiency, common variable, 10
- p.His107= Single submitter immunodeficiency, common variable, 10
- p.His140= Single submitter immunodeficiency, common variable, 10
- p.His295= Single submitter immunodeficiency, common variable, 10
- p.His532= Single submitter immunodeficiency, common variable, 10
- p.His565= Single submitter immunodeficiency, common variable, 10
- p.His639= Single submitter immunodeficiency, common variable, 10
- p.His892= Single submitter immunodeficiency, common variable, 10
- p.Ile119= Single submitter immunodeficiency, common variable, 10
- p.Ile24= Single submitter immunodeficiency, common variable, 10
- p.Ile536= Single submitter
- p.Leu109= Single submitter immunodeficiency, common variable, 10
- p.Leu139= Single submitter immunodeficiency, common variable, 10
- p.Leu166= Single submitter immunodeficiency, common variable, 10
- p.Leu174= Single submitter immunodeficiency, common variable, 10
- p.Leu181= Single submitter immunodeficiency, common variable, 10
- p.Leu192= Single submitter immunodeficiency, common variable, 10
- p.Leu343= Single submitter immunodeficiency, common variable, 10
- p.Leu453= Single submitter immunodeficiency, common variable, 10
- p.Leu461= Single submitter immunodeficiency, common variable, 10
- p.Leu473= Single submitter immunodeficiency, common variable, 10
- p.Leu474= Single submitter immunodeficiency, common variable, 10
- p.Leu492= Single submitter immunodeficiency, common variable, 10
- p.Leu619= Single submitter immunodeficiency, common variable, 10
- p.Leu657= Single submitter immunodeficiency, common variable, 10
- p.Leu672= Single submitter immunodeficiency, common variable, 10
- p.Leu702= Single submitter immunodeficiency, common variable, 10
- p.Leu736= Single submitter
- p.Leu746= Single submitter
- p.Leu768= Single submitter immunodeficiency, common variable, 10
- p.Leu778= Single submitter immunodeficiency, common variable, 10
- p.Leu832= Single submitter immunodeficiency, common variable, 10
- p.Leu840= Single submitter immunodeficiency, common variable, 10
- p.Leu846= Single submitter immunodeficiency, common variable, 10
- p.Leu95= Single submitter immunodeficiency, common variable, 10
- p.Lys183= Single submitter immunodeficiency, common variable, 10
- p.Lys72= Single submitter immunodeficiency, common variable, 10
- p.Phe205= Single submitter immunodeficiency, common variable, 10
- p.Phe346= Single submitter immunodeficiency, common variable, 10
- p.Phe53= Single submitter immunodeficiency, common variable, 10
- p.Phe728= Single submitter immunodeficiency, common variable, 10
- p.Pro211= Single submitter immunodeficiency, common variable, 10
- p.Pro302= Single submitter immunodeficiency, common variable, 10
- p.Pro38= Single submitter immunodeficiency, common variable, 10
- p.Pro66= Single submitter immunodeficiency, common variable, 10
- p.Pro681= Single submitter immunodeficiency, common variable, 10
- p.Pro708= Single submitter immunodeficiency, common variable, 10
- p.Pro760= Single submitter immunodeficiency, common variable, 10
- p.Pro857= Single submitter immunodeficiency, common variable, 10
- p.Pro884= Single submitter immunodeficiency, common variable, 10
- p.Pro895= Single submitter immunodeficiency, common variable, 10
- p.Ser195= Single submitter immunodeficiency, common variable, 10
- p.Ser3Asn Single submitter
- p.Ser707= Single submitter immunodeficiency, common variable, 10
- p.Ser715= Single submitter immunodeficiency, common variable, 10
- p.Ser762= Single submitter immunodeficiency, common variable, 10
- p.Ser814= Single submitter immunodeficiency, common variable, 10
- p.Ser872= Single submitter immunodeficiency, common variable, 10
- p.Thr304= Single submitter immunodeficiency, common variable, 10
- p.Thr345= Single submitter immunodeficiency, common variable, 10
- p.Thr482= Single submitter immunodeficiency, common variable, 10
- p.Thr490= Single submitter
- p.Thr642= Single submitter immunodeficiency, common variable, 10
- p.Thr670= Single submitter
- p.Thr710= Single submitter immunodeficiency, common variable, 10
- p.Thr732= Single submitter immunodeficiency, common variable, 10
Uncertain significance 335
Showing the top 300 by review status; the full set is in the sitemap.
- c.143_144+38dup Multiple submitters immunodeficiency, common variable, 10
- c.243+3G>A Multiple submitters immunodeficiency, common variable, 10
- p.Ala121Thr Multiple submitters immunodeficiency, common variable, 10 ⚠
- p.Ala363Thr Multiple submitters immunodeficiency, common variable, 10 ⚠
- p.Ala475Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala572Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala574Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala588Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ala696Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala860Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg158Trp Multiple submitters immunodeficiency, common variable, 10 ⚠
- p.Arg261Trp Multiple submitters ⚠
- p.Arg456Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg459Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg459Gly Multiple submitters immunodeficiency, common variable, 10 ⚠
- p.Arg49Thr Multiple submitters immunodeficiency, common variable, 10 ⚠
- p.Arg548_Leu556del Multiple submitters immunodeficiency, common variable, 10
- p.Arg548Pro Multiple submitters immunodeficiency, common variable, 10
- p.Arg611Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg631Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg658Gln Multiple submitters immunodeficiency, common variable, 10 ⚠
- p.Arg819Cys Multiple submitters immunodeficiency, common variable, 10 ⚠
- p.Asn660Lys Multiple submitters immunodeficiency, common variable, 10 ⚠
- p.Asp469Glu Multiple submitters immunodeficiency, common variable, 10 ⚠
- p.Gln48Pro Multiple submitters Inborn genetic diseases ⚠
- p.Gln591Leu Multiple submitters Inborn genetic diseases ⚠
- p.Glu576Gln Multiple submitters immunodeficiency, common variable, 10 ⚠
- p.Glu878Asp Multiple submitters immunodeficiency, common variable, 10 ⚠
- p.Gly351Arg Multiple submitters immunodeficiency, common variable, 10 ⚠
- p.Gly784Arg Multiple submitters immunodeficiency, common variable, 10 ⚠
- p.His695Gln Multiple submitters Inborn genetic diseases ⚠
- p.Ile151Met Multiple submitters immunodeficiency, common variable, 10 ⚠
- p.Leu581Val Multiple submitters immunodeficiency, common variable, 10 ⚠
- p.Met146Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met838Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro437Leu Multiple submitters immunodeficiency, common variable, 10 ⚠
- p.Pro587Leu Multiple submitters immunodeficiency, common variable, 10 ⚠
- p.Pro681Leu Multiple submitters immunodeficiency, common variable, 10
- p.Pro850Leu Multiple submitters immunodeficiency, common variable, 10 ⚠
- p.Pro884Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro886Gln Multiple submitters immunodeficiency, common variable, 10 ⚠
- p.Pro897Ser Multiple submitters immunodeficiency, common variable, 10 ⚠
- p.Ser354Phe Multiple submitters immunodeficiency, common variable, 10
- p.Ser622Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser717Pro Multiple submitters immunodeficiency, common variable, 10 ⚠
- p.Ser762Asn Multiple submitters immunodeficiency, common variable, 10 ⚠
- p.Ser820Asn Multiple submitters immunodeficiency, common variable, 10 ⚠
- p.Thr540Met Multiple submitters immunodeficiency, common variable, 10 ⚠
- p.Thr684Pro Multiple submitters immunodeficiency, common variable, 10 ⚠
- p.Thr732Met Multiple submitters Inborn genetic diseases ⚠
- p.Tyr294Cys Multiple submitters immunodeficiency, common variable, 10 ⚠
- p.Tyr388Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val25Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val844Ala Multiple submitters immunodeficiency, common variable, 10 ⚠
- c.103+3C>T Single submitter immunodeficiency, common variable, 10
- c.103+6C>T Single submitter immunodeficiency, common variable, 10
- c.1118-9T>A Single submitter
- c.145-19del Single submitter immunodeficiency, common variable, 10
- c.145-3C>T Single submitter immunodeficiency, common variable, 10
- c.145-6C>T Single submitter immunodeficiency, common variable, 10
- c.1469+4G>A Single submitter immunodeficiency, common variable, 10
- c.1470-8_1470-2dup Single submitter immunodeficiency, common variable, 10
- c.1584+3G>C Single submitter immunodeficiency, common variable, 10
- c.1584+4C>T Single submitter immunodeficiency, common variable, 10
- c.1584+5G>T Single submitter immunodeficiency, common variable, 10
- c.1584+6G>T Single submitter immunodeficiency, common variable, 10
- c.1798+3G>A Single submitter immunodeficiency, common variable, 10
- c.1798+6C>T Single submitter immunodeficiency, common variable, 10
- c.1969-3C>T Single submitter immunodeficiency, common variable, 10
- c.2072-1G>A Single submitter
- c.2293+3G>A Single submitter immunodeficiency, common variable, 10
- c.2294-12T>C Single submitter immunodeficiency, common variable, 10
- c.243+2T>G Single submitter immunodeficiency, common variable, 10
- c.243+6C>G Single submitter immunodeficiency, common variable, 10
- c.2466+3G>A Single submitter immunodeficiency, common variable, 10
- c.2578+1del Single submitter immunodeficiency, common variable, 10
- c.2578+2_2578+4del Single submitter immunodeficiency, common variable, 10
- c.2578+6G>A Single submitter immunodeficiency, common variable, 10
- c.502+6G>A Single submitter immunodeficiency, common variable, 10
- c.502+6G>C Single submitter immunodeficiency, common variable, 10
- c.503-16T>G Single submitter immunodeficiency, common variable, 10
- c.661+5G>A Single submitter
- c.662-7T>G Single submitter immunodeficiency, common variable, 10
- c.766+1G>A Single submitter immunodeficiency, common variable, 10
- c.766+8T>C Single submitter
- c.767-6_767-5del Single submitter immunodeficiency, common variable, 10
- c.852+13_852+30del Single submitter
- c.991+4G>A Single submitter immunodeficiency, common variable, 10
- c.991+5A>G Single submitter immunodeficiency, common variable, 10
- c.991+6G>A Single submitter immunodeficiency, common variable, 10
- c.992-3del Single submitter immunodeficiency, common variable, 10
- p.Ala31Gly Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ala342Pro Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ala363Val Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ala364Thr Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ala454Pro Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ala458Val Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ala460Thr Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ala468Glu Single submitter ⚠
- p.Ala468Thr Single submitter Inborn genetic diseases ⚠
- p.Ala470Ser Single submitter Inborn genetic diseases ⚠
- p.Ala472Thr Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ala475Thr Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ala514Thr Single submitter Inborn genetic diseases ⚠
- p.Ala534Val Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ala563Pro Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ala567_Leu578dup Single submitter immunodeficiency, common variable, 10
- p.Ala570Thr Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ala572Gly Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ala580Gly Single submitter ⚠
- p.Ala610Ser Single submitter Inborn genetic diseases ⚠
- p.Ala610Thr Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ala628Val Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ala663Ser Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ala663Val Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ala667= Single submitter immunodeficiency, common variable, 10
- p.Ala750Gly Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg103Cys Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg158Gln Single submitter Inborn genetic diseases ⚠
- p.Arg160Cys Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg160His Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg172Gln Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg172Trp Single submitter ⚠
- p.Arg301Gln Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg311Cys Single submitter ⚠
- p.Arg337Gln Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg339Gln Single submitter ⚠
- p.Arg52Gln Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg548Gln Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg558Gln Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg558Trp Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg569Gln Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg579Cys Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg609Gly Single submitter ⚠
- p.Arg631Gln Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg631Leu Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg635Gln Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg664Cys Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg664His Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg685Gly Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg729Gln Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg74Gln Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg797His Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg801Cys Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg801His Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg801Pro Single submitter
- p.Arg808Gln Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg808Gly Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg845Lys Single submitter immunodeficiency, common variable, 10 ⚠
- p.Arg848fs Single submitter immunodeficiency, common variable, 10
- p.Arg853_Asp854del Single submitter immunodeficiency, common variable, 10
- p.Arg853Gln Single submitter immunodeficiency, common variable, 10 ⚠
- p.Asn487Lys Single submitter ⚠
- p.Asn6Ile Single submitter ⚠
- p.Asp219= Single submitter immunodeficiency, common variable, 10
- p.Asp316Val Single submitter Inborn genetic diseases ⚠
- p.Asp331Glu Single submitter immunodeficiency, common variable, 10 ⚠
- p.Asp36Asn Single submitter ⚠
- p.Asp485Glu Single submitter Inborn genetic diseases ⚠
- p.Asp561Asn Single submitter immunodeficiency, common variable, 10 ⚠
- p.Asp621Gly Single submitter Inborn genetic diseases ⚠
- p.Asp714Tyr Single submitter ⚠
- p.Asp716Tyr Single submitter immunodeficiency, common variable, 10 ⚠
- p.Asp735Glu Single submitter ⚠
- p.Asp783Asn Single submitter immunodeficiency, common variable, 10 ⚠
- p.Asp783Glu Single submitter immunodeficiency, common variable, 10 ⚠
- p.Asp827Asn Single submitter immunodeficiency, common variable, 10 ⚠
- p.Asp837Val Single submitter immunodeficiency, common variable, 10 ⚠
- p.Asp854Asn Single submitter immunodeficiency, common variable, 10 ⚠
- p.Asp854fs Single submitter immunodeficiency, common variable, 10
- p.Asp854His Single submitter immunodeficiency, common variable, 10 ⚠
- p.Asp865His Single submitter immunodeficiency, common variable, 10 ⚠
- p.Cys891Arg Single submitter immunodeficiency, common variable, 10 ⚠
- p.Gln336_Arg337delinsHisTrp Single submitter immunodeficiency, common variable, 10
- p.Gln455Leu Single submitter Inborn genetic diseases ⚠
- p.Gln48Lys Single submitter ⚠
- p.Gln515Pro Single submitter immunodeficiency, common variable, 10 ⚠
- p.Gln898Arg Single submitter immunodeficiency, common variable, 10 ⚠
- p.Glu177Gln Single submitter ⚠
- p.Glu180Lys Single submitter immunodeficiency, common variable, 10 ⚠
- p.Glu267Ala Single submitter ⚠
- p.Glu29Gln Single submitter immunodeficiency, common variable, 10 ⚠
- p.Glu2Lys Single submitter immunodeficiency, common variable, 10 ⚠
- p.Glu646Lys Single submitter immunodeficiency, common variable, 10 ⚠
- p.Glu833Gln Single submitter ⚠
- p.Glu833Gly Single submitter immunodeficiency, common variable, 10 ⚠
- p.Glu851fs Single submitter immunodeficiency, common variable, 10
- p.Glu864Lys Single submitter immunodeficiency, common variable, 10 ⚠
- p.Glu86Lys Single submitter immunodeficiency, common variable, 10 ⚠
- p.Glu874Gly Single submitter immunodeficiency, common variable, 10 ⚠
- p.Glu885fs Single submitter immunodeficiency, common variable, 10
- p.Glu92Asp Single submitter immunodeficiency, common variable, 10 ⚠
- p.Gly137Val Single submitter immunodeficiency, common variable, 10 ⚠
- p.Gly315Glu Single submitter Inborn genetic diseases ⚠
- p.Gly352Ser Single submitter immunodeficiency, common variable, 10 ⚠
- p.Gly353Asp Single submitter immunodeficiency, common variable, 10 ⚠
- p.Gly362Arg Single submitter immunodeficiency, common variable, 10 ⚠
- p.Gly365Arg Single submitter immunodeficiency, common variable, 10 ⚠
- p.Gly366Ala Single submitter immunodeficiency, common variable, 10 ⚠
- p.Gly366Asp Single submitter immunodeficiency, common variable, 10
- p.Gly368Glu Single submitter immunodeficiency, common variable, 10 ⚠
- p.Gly452Arg Single submitter Inborn genetic diseases ⚠
- p.Gly452Ser Single submitter immunodeficiency, common variable, 10 ⚠
- p.Gly488Glu Single submitter immunodeficiency, common variable, 10 ⚠
- p.Gly499Arg Single submitter ⚠
- p.Gly499Glu Single submitter immunodeficiency, common variable, 10 ⚠
- p.Gly518Asp Single submitter immunodeficiency, common variable, 10 ⚠
- p.Gly518Ser Single submitter Inborn genetic diseases ⚠
- p.Gly550Ser Single submitter immunodeficiency, common variable, 10 ⚠
- p.Gly573Asp Single submitter immunodeficiency, common variable, 10 ⚠
- p.Gly573Ser Single submitter immunodeficiency, common variable, 10 ⚠
- p.Gly600Arg Single submitter immunodeficiency, common variable, 10 ⚠
- p.Gly600Glu Single submitter immunodeficiency, common variable, 10 ⚠
- p.Gly623Arg Single submitter immunodeficiency, common variable, 10
- p.Gly633Arg Single submitter ⚠
- p.Gly691Asp Single submitter immunodeficiency, common variable, 10 ⚠
- p.Gly719Glu Single submitter immunodeficiency, common variable, 10 ⚠
- p.Gly826Arg Single submitter immunodeficiency, common variable, 10 ⚠
- p.Gly830Ser Single submitter immunodeficiency, common variable, 10 ⚠
- p.Gly839Ser Single submitter immunodeficiency, common variable, 10 ⚠
- p.Gly849Val Single submitter immunodeficiency, common variable, 10 ⚠
- p.Gly881Asp Single submitter immunodeficiency, common variable, 10 ⚠
- p.His355Gln Single submitter immunodeficiency, common variable, 10 ⚠
- p.His512Asp Single submitter immunodeficiency, common variable, 10 ⚠
- p.His527Gln Single submitter immunodeficiency, common variable, 10 ⚠
- p.His594Arg Single submitter immunodeficiency, common variable, 10 ⚠
- p.His652Tyr Single submitter immunodeficiency, common variable, 10 ⚠
- p.His892Tyr Single submitter immunodeficiency, common variable, 10 ⚠
- p.His98Asn Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ile12Val Single submitter NFKB2-related disorder ⚠
- p.Ile189Val Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ile213Val Single submitter Inborn genetic diseases ⚠
- p.Ile507Val Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ile694Ser Single submitter immunodeficiency, common variable, 10
- p.Leu174Pro Single submitter ⚠
- p.Leu328Pro Single submitter immunodeficiency, common variable, 10 ⚠
- p.Leu522Ile Single submitter immunodeficiency, common variable, 10 ⚠
- p.Leu555Pro Single submitter immunodeficiency, common variable, 10
- p.Leu566Val Single submitter immunodeficiency, common variable, 10 ⚠
- p.Leu582Phe Single submitter immunodeficiency, common variable, 10 ⚠
- p.Leu678Val Single submitter immunodeficiency, common variable, 10 ⚠
- p.Leu770Phe Single submitter immunodeficiency, common variable, 10 ⚠
- p.Leu778Met Single submitter immunodeficiency, common variable, 10 ⚠
- p.Leu778Pro Single submitter immunodeficiency, common variable, 10 ⚠
- p.Leu818Pro Single submitter immunodeficiency, common variable, 10 ⚠
- p.Leu823= Single submitter immunodeficiency, common variable, 10
- p.Lys143Arg Single submitter Inborn genetic diseases ⚠
- p.Lys144del Single submitter
- p.Lys296Asn Single submitter immunodeficiency, common variable, 10 ⚠
- p.Lys296Glu Single submitter immunodeficiency, common variable, 10 ⚠
- p.Lys298Ter Single submitter immunodeficiency, common variable, 10
- p.Lys879Gln Single submitter immunodeficiency, common variable, 10 ⚠
- p.Met150Val Single submitter immunodeficiency, common variable, 10 ⚠
- p.Met356Thr Single submitter immunodeficiency, common variable, 10
- p.Met564Ile Single submitter immunodeficiency, common variable, 10 ⚠
- p.Phe205Leu Single submitter ⚠
- p.Phe350Leu Single submitter immunodeficiency, common variable, 10 ⚠
- p.Phe379Leu Single submitter immunodeficiency, common variable, 10 ⚠
- p.Phe545Ile Single submitter immunodeficiency, common variable, 10 ⚠
- p.Phe728Cys Single submitter immunodeficiency, common variable, 10 ⚠
- p.Phe728Leu Single submitter immunodeficiency, common variable, 10 ⚠
- p.Pro30Ala Single submitter immunodeficiency, common variable, 10 ⚠
- p.Pro423Ser Single submitter immunodeficiency, common variable, 10 ⚠
- p.Pro587Ser Single submitter immunodeficiency, common variable, 10 ⚠
- p.Pro613Ser Single submitter immunodeficiency, common variable, 10 ⚠
- p.Pro706Thr Single submitter immunodeficiency, common variable, 10 ⚠
- p.Pro708Ala Single submitter immunodeficiency, common variable, 10 ⚠
- p.Pro708Ser Single submitter immunodeficiency, common variable, 10 ⚠
- p.Pro709Ser Single submitter immunodeficiency, common variable, 10 ⚠
- p.Pro709Thr Single submitter immunodeficiency, common variable, 10 ⚠
- p.Pro760Leu Single submitter immunodeficiency, common variable, 10 ⚠
- p.Pro760Ser Single submitter immunodeficiency, common variable, 10 ⚠
- p.Pro763Leu Single submitter immunodeficiency, common variable, 10 ⚠
- p.Pro766Leu Single submitter Inborn genetic diseases ⚠
- p.Pro785Ala Single submitter immunodeficiency, common variable, 10 ⚠
- p.Pro883His Single submitter Inborn genetic diseases ⚠
- p.Pro886Leu Single submitter immunodeficiency, common variable, 10 ⚠
- p.Pro887Ser Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ser115Leu Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ser161Phe Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ser206Cys Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ser360Phe Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ser3Thr Single submitter Inborn genetic diseases ⚠
- p.Ser457Arg Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ser457Gly Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ser502Gly Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ser541Arg Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ser562Thr Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ser584Thr Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ser612Asn Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ser622Arg Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ser707Thr Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ser711Cys Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ser790Arg Single submitter ⚠
- p.Ser790Cys Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ser790Thr Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ser816Asn Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ser866Asn Single submitter immunodeficiency, common variable, 10 ⚠
- p.Ser866Cys Single submitter immunodeficiency, common variable, 10
- p.Ser866Gly Single submitter immunodeficiency, common variable, 10 ⚠