IL12B — 243 ClinVar variants
All ClinVar germline IL12B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →
10 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 11 Conflicting · 12 Benign · 2 Benign/Likely benign · 86 Likely benign · 114 Uncertain significance
Full IL12B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 92
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 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
IL12B p.Arg250Gln
Conflicting
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Glu321Lys
Conflicting
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Glu95Lys
Conflicting
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Ser100Leu
Conflicting
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Val215Ile
Conflicting
Single submitter
Inborn genetic diseases
-
IL12B p.Val275Ile
Conflicting
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Predictors lean, ClinVar uncertain 68
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
IL12B p.Arg139Cys
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Arg179Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IL12B p.Arg313His
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Arg313Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IL12B p.Asp287Val
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Glu132Lys
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Glu95Asp
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Gly167Glu
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Gly171Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IL12B p.Ile208Thr
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Pro235Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IL12B p.Val325Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IL12B p.Arg250Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL12B p.Arg283Thr
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Arg301His
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Asn125Ser
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Asp109Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL12B p.Asp292Tyr
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Asp51Ala
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Cys50Tyr
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Gln311His
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Gln87His
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL12B p.Glu257Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL12B p.Glu67Ala
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Glu67Asp
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Gly70Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL12B p.Gly83Arg
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.His105Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL12B p.His216Arg
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.His91Tyr
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Ile208Val
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Ile8Met
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Leu101Phe
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Lys124Arg
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Lys27Gln
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Lys285Asn
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Lys285Glu
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Met211Ile
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Met211Thr
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Met45Thr
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Phe128Ile
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Phe128Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL12B p.Phe140Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL12B p.Pro123Ala
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Pro165Arg
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Pro238Leu
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Pro39Ala
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Pro39Leu
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Pro53Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL12B p.Ser162Tyr
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Ser225Ile
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Ser305Asn
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Ser328Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL12B p.Ser66Asn
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Thr297Met
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Thr61Asn
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Thr76Ile
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Trp10Cys
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Val212Leu
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Val21Met
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Val252Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL12B p.Val277Ile
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Val308Met
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Val30Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL12B p.Val47Phe
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Val7Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL12B p.Val7Phe
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Val96Phe
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 18
The independent predictors disagree with each other — read with care.
-
IL12B p.Arg288Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IL12B p.Arg313Cys
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Thr146Met
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Thr291Met
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Val298Phe
Benign
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Arg301Cys
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Arg309Gln
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- IL12B p.Asn240Ile Uncertain significance Single submitter
-
IL12B p.Asp119Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL12B p.Asp260Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL12B p.Glu204Asp
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Gly43Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL12B p.Pro207Leu
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Thr169Met
Conflicting
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Thr294Ile
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Trp24Arg
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Trp24Cys
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
-
IL12B p.Val7Asp
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
All IL12B variants
Pathogenic 10
- p.Arg288fs Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Cys170fs Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Cys170Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Cys300Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Gln87Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Glu108fs Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Glu44Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Thr127_Phe128insTer Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Trp10Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Ser100fs No assertion criteria Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Pathogenic/Likely pathogenic 1
- p.Tyr220Ter Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Likely pathogenic 7
- c.364+1G>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.697+5G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.855+1G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Gln5Ter Single submitter IL12B-related disorders
- p.Glu95fs Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Ser176fs Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Trp60Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Conflicting classifications of pathogenicity 11
- p.Arg250Gln Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Cys274= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Glu321Lys Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Glu95Lys Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Leu35= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Ser100= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Ser100Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Ser320= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Thr169Met Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Val215Ile Single submitter Inborn genetic diseases ⚠
- p.Val275Ile Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
Benign 12
- c.483-8G>C Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Ser226Asn Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Val298Phe Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Val33Ile Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.364+49A>G Single submitter
- c.483-36T>G Single submitter
- c.856-22C>T Single submitter
- c.*1095C>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.*159A>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.*1G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.*225A>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.*883C>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Benign/Likely benign 2
- p.Arg288Thr Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Tyr223= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Likely benign 86
- c.482+16C>G Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Ala17= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Ala214= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Arg283= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Gly182Arg Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Ile8= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Thr291= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.364+12C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.364+13C>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.364+17G>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.364+8T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.364+8T>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.364+9A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.365-11T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.365-19T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.482+10A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.482+10A>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.482+14C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.482+7G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.483-13T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.483-6C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.697+11G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.697+16T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.698-10T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.698-14A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.855+19G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.855+7A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.856-19C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.856-5T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.856-7T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.88+20T>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.88+8G>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.89-14T>C Single submitter inherited susceptibility to mycobacterial diseases
- c.89-17C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.89-20C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.*293G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.*520C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Ala310= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Arg288= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Arg309= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Asn184= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Asp109= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Asp287= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Asp36= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Cys131= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Cys170= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Cys90= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Gln278= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Glu209= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Gly138= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Gly167= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Gly86= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Ile111= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Ile299= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Leu103= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Leu152= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Leu20= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Leu246= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Leu48= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Lys185= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Lys244= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Phe227= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Phe290= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Pro237= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Pro326Ser Single submitter Inborn genetic diseases
- p.Pro39= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Ser149= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Ser18= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Ser190= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Ser267= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Ser281Asn Single submitter
- p.Ser295= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Ser307= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Ser316= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Ser317= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Thr146= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Thr147= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Thr174= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Thr224= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Thr261= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Thr294= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Thr297= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Val298= Single submitter
- p.Val32= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Val47= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Val79= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Uncertain significance 114
- p.Arg139Cys Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Arg179Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg288Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg313Cys Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Arg313His Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Arg313Leu Multiple submitters Inborn genetic diseases ⚠
- p.Asp287Val Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Glu132Lys Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Glu95Asp Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Gly167Glu Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Gly171Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile208Thr Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Pro235Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr146Met Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Thr291Met Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Val325Met Multiple submitters Inborn genetic diseases ⚠
- c.483-6C>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.88+4A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.89-3C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.-29A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.*1016T>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.*1036C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.*1069G>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.*1232A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.*1312T>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.*230C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.*324T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.*395A>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.*408C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.*437A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.*486A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.*497C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.*696C>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.*746C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.*780G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.*840G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.*957C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- c.*984A>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Arg250Trp Single submitter Inborn genetic diseases ⚠
- p.Arg283Thr Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Arg301Cys Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Arg301His Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Arg309Gln Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Asn125Ser Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Asn240Ile Single submitter ⚠
- p.Asp109Val Single submitter Inborn genetic diseases ⚠
- p.Asp119Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp236Glu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Asp260Gly Single submitter Inborn genetic diseases ⚠
- p.Asp29= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Asp292Tyr Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Asp51Ala Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Cys50Tyr Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Gln311His Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Gln87His Single submitter Inborn genetic diseases ⚠
- p.Glu195del Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Glu204Asp Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Glu257Asp Single submitter Inborn genetic diseases ⚠
- p.Glu67Ala Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Glu67Asp Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Gly43Arg Single submitter Inborn genetic diseases ⚠
- p.Gly70Ser Single submitter Inborn genetic diseases ⚠
- p.Gly83Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Gly94= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.His105Arg Single submitter Inborn genetic diseases ⚠
- p.His216Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.His91Tyr Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Ile208Val Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Ile8Met Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Leu101Phe Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Lys107= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Lys124Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Lys27Gln Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Lys285= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Lys285Asn Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Lys285Glu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Met211Ile Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Met211Thr Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Met45Thr Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Phe128Ile Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Phe128Ser Single submitter Inborn genetic diseases ⚠
- p.Phe140Leu Single submitter Inborn genetic diseases ⚠
- p.Pro123Ala Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Pro165Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Pro207Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Pro238Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Pro39Ala Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Pro39Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Pro53Ala Single submitter Inborn genetic diseases ⚠
- p.Ser137Cys Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Ser162Tyr Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Ser225Ile Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Ser305Asn Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Ser328Arg Single submitter Inborn genetic diseases ⚠
- p.Ser66Asn Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Thr294Ile Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Thr297Met Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Thr61Asn Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Thr76Ile Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Trp10Cys Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Trp24Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Trp24Cys Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Trp322Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- p.Val212Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Val21Met Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Val252Met Single submitter Inborn genetic diseases ⚠
- p.Val277Ile Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Val308Met Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Val30Ala Single submitter Inborn genetic diseases ⚠
- p.Val47Phe Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Val7Asp Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Val7Gly Single submitter Inborn genetic diseases ⚠
- p.Val7Phe Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ⚠
- p.Val96Phe Single submitter Inborn genetic diseases ⚠