MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Immunologic Deficiency Syndromes (D007153)
..Starting node
..expand
Common Variable Immunodeficiency (D017074)

       Child Nodes:
........expandIMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)



 Sister Nodes: 
..expandActivated PI3K-delta Syndrome (C585640)
..expandAgammaglobulinemia (D000361) Child19
..expandAntibody Deficiency due to Defect in CD19 (C566275)
..expandAtaxia Telangiectasia (D001260) Child6
..expandAUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED (OMIM:614878)
..expandB-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..expandC1q DEFICIENCY (OMIM:613652)
..expandC9 Deficiency (C565165)
..expandC9 Deficiency with Dermatomyositis (C565166)
..expandCartilage hair hypoplasia like syndrome (C535915)
..expandCartilage-hair hypoplasia (C535916)
..expandCd4+ Lymphocyte Deficiency (C566079)
..expandCD8 Deficiency, Familial (C563824)
..expandCombined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (C564307)
..expandCombined Inflammatory and Immunologic Defect (C565684)
..expandCommon Variable Immunodeficiency (D017074)
..expandCOMPLEMENT COMPONENT 2 DEFICIENCY (OMIM:217000)
..expandComplement Component 3 Deficiency, Autosomal Recessive (C565169)
..expandComplement Component 4, Partial Deficiency Of (C565168)
..expandComplement Component 4a Deficiency (C565167)
..expandCOMPLEMENT COMPONENT 4B DEFICIENCY (OMIM:614379)
..expandComplement component 5 deficiency (C537005)
..expandComplement Component 6 Deficiency (C567307)
..expandComplement Component 7 Deficiency (C566443)
..expandCOMPLEMENT COMPONENT C1r/C1s DEFICIENCY (OMIM:216950)
..expandComplement Component C1s Deficiency (C565170)
..expandCOMPLEMENT FACTOR B DEFICIENCY (OMIM:615561)
..expandComplement Factor D Deficiency (C565027)
..expandDavenport Donlan syndrome (C535988)
..expandDeltaretrovirus Infections (D006800) Child4
..expandDiarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency (C565099)
..expandDysgammaglobulinemia (D004406) Child11
..expandEctodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..expandEctodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant (C567411)
..expandEctodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
..expandEndotoxin Hyporesponsiveness (C566417)
..expandEnteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency (C563949)
..expandERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
..expandFACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE (OMIM:615139)
..expandFanconi like syndrome (C536855)
..expandFICOLIN 3 DEFICIENCY (OMIM:613860)
..expandGriscelli syndrome type 2 (C537302)
..expandHepatic venoocclusive disease with immunodeficiency (C537257)
..expandHIV Infections (D015658) Child12
..expandHypoglobulinemia and Absent B Cells (C565765)
..expandImmune Deficiency Disease (C565469)
..expandImmune Deficiency, Familial Variable (C564136)
..expandIMMUNODEFICIENCY 11 (OMIM:615206)
..expandIMMUNODEFICIENCY 12 (OMIM:615468)
..expandIMMUNODEFICIENCY 14 (OMIM:615513)
..expandIMMUNODEFICIENCY 15B (OMIM:615592)
..expandIMMUNODEFICIENCY 16 (OMIM:615593)
..expandIMMUNODEFICIENCY 17 (OMIM:615607)
..expandIMMUNODEFICIENCY 18 (OMIM:615615)
..expandIMMUNODEFICIENCY 19 (OMIM:615617)
..expandIMMUNODEFICIENCY 20 (OMIM:615707)
..expandIMMUNODEFICIENCY 21 (OMIM:614172)
..expandIMMUNODEFICIENCY 22 (OMIM:615758)
..expandIMMUNODEFICIENCY 23 (OMIM:615816)
..expandIMMUNODEFICIENCY 24 (OMIM:615897)
..expandIMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES (OMIM:615966)
..expandIMMUNODEFICIENCY 27B (OMIM:615978)
..expandIMMUNODEFICIENCY 28 (OMIM:614889)
..expandIMMUNODEFICIENCY 29 (OMIM:614890)
..expandIMMUNODEFICIENCY 30 (OMIM:614891)
..expandIMMUNODEFICIENCY 31A (OMIM:614892)
..expandIMMUNODEFICIENCY 31B (OMIM:613796)
..expandIMMUNODEFICIENCY 31C (OMIM:614162)
..expandIMMUNODEFICIENCY 32A (OMIM:614893)
..expandIMMUNODEFICIENCY 32B (OMIM:226990)
..expandIMMUNODEFICIENCY 36 (OMIM:616005)
..expandIMMUNODEFICIENCY 37 (OMIM:616098)
..expandIMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION (OMIM:616126)
..expandIMMUNODEFICIENCY 39 (OMIM:616345)
..expandIMMUNODEFICIENCY 40 (OMIM:616433)
..expandIMMUNODEFICIENCY 42 (OMIM:616622)
..expandIMMUNODEFICIENCY 44 (OMIM:616636)
..expandIMMUNODEFICIENCY 45 (OMIM:616669)
..expandIMMUNODEFICIENCY 46 (OMIM:616740)
..expandIMMUNODEFICIENCY 47 (OMIM:300972)
..expandIMMUNODEFICIENCY 48 (OMIM:269840)
..expandIMMUNODEFICIENCY 49 (OMIM:617237)
..expandIMMUNODEFICIENCY 50 (OMIM:300988)
..expandIMMUNODEFICIENCY 51 (OMIM:613953)
..expandIMMUNODEFICIENCY 54 (OMIM:609981)
..expandIMMUNODEFICIENCY 56 (OMIM:615207)
..expandIMMUNODEFICIENCY 8 (OMIM:615401)
..expandImmunodeficiency due to Defect in CD3-Epsilon (C566082)
..expandImmunodeficiency due to Defect in CD3-Gamma (C566083)
..expandImmunodeficiency due to Defect in CD3-Zeta (C565712)
..expandImmunodeficiency due to Defect in MAPBP-Interacting Protein (C563663)
..expandImmunodeficiency syndrome, variable (C537362) Child1
..expandImmunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist (C564135)
..expandImmunodeficiency without anhidrotic ectodermal dysplasia (C536289)
..expandImmunodeficiency, Gonadal Dysgenesis, And Pulmonary Fibrosis (C567457)
..expandImmunodeficiency, Hypogammaglobulinemia, and Reduced B Cells (C567200)
..expandImmunodeficiency, Partial Combined, with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes (C565468)
..expandImmunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein (C564120)
..expandIMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY (OMIM:614102)
..expandInosine Phosphorylase Deficiency, Immune Defect Due To (C565465)
..expandInterleukin 2 Receptor, Alpha, Deficiency of (C565232)
..expandInvasive Pneumococcal Disease, Recurrent Isolated, 1 (C563662)
..expandInvasive Pneumococcal Disease, Recurrent Isolated, 2 (C564468)
..expandIRAK4 Deficiency (C564352)
..expandKappa-Chain Deficiency (C564131)
..expandKotzot-Richter syndrome (C537025)
..expandLeukocyte-Adhesion Deficiency Syndrome (D018370) Child2
..expandLichtenstein syndrome (C535894)
..expandLIG4 Syndrome (C564694)
..expandLUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
..expandLymphoblastic Transformation, Intrinsic Defect in (C565431)
..expandLymphoid System Deterioration, Progressive (C565430)
..expandLymphokine Deficiency (C565428)
..expandLymphopenia (D008231) Child5
..expandLymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis (C565427)
..expandMASP2 Deficiency (C565360)
..expandMYD88 Deficiency (C567379)
..expandMyelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..expandNatural Killer Cell Deficiency, Familial Isolated (C566492)
..expandNEMO mutation with immunodeficiency (C538399)
..expandNeutrophil Immunodeficiency Syndrome (C564275)
..expandPhagocyte Bactericidal Dysfunction (D010585) Child14
..expandProperdin Deficiency, Type II (C564075)
..expandProperdin Deficiency, Type III (C564076)
..expandRiddle Syndrome (C567453)
..expandRoifman syndrome (C535866)
..expandRoifman-Chitayat Syndrome (C567641)
..expandSchimke immunoosseous dysplasia (C536629)
..expandSevere Combined Immunodeficiency (D016511) Child22  LSDB C:1
..expandSevere Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive (C563311)
..expandSplenic Hypoplasia (C563028)
..expandT cell immunodeficiency primary (C536780)
..expandT-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
..expandT-Cell OKT4 Deficiency (C566080)
..expandT-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
..expandThumb Agenesis, Short Stature, And Immunodeficiency (C564770)
..expandThymic aplasia (C536288)
..expandTuftsin Deficiency (C562872)
..expandWHIM syndrome (C536697)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:2803
Name:Common Variable Immunodeficiency
Definition:Heterogeneous group of immunodeficiency syndromes characterized by hypogammaglobulinemia of most isotypes, variable B-cell defects, and the presence of recurrent bacterial infections.
Alternative IDs:DO:DOID:12177|OMIM:240500|OMIM:607594|OMIM:613493|OMIM:613494|OMIM:613495|OMIM:613496|OMIM:614699|OM
ParentIDs:MESH:D007153
TreeNumbers:C20.673.330
Synonyms:Acquired Hypogammaglobulinemia |Acquired Hypogammaglobulinemias |ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT |ANTIBODY DEFICIENCY DUE TO CD19 DEFECT |ANTIBODY DEFICIENCY DUE TO CD20 DEFECT |ANTIBODY DEFICIENCY DUE TO CD81 DEFECT |ANTIBODY DEFICIENCY DUE TO ICOS DE
Slim Mappings:Immune system disease
Reference: MedGen: D017074
MeSH: D017074
OMIM: 607594;
MSeqDR LSDB:  
Genes: CD19; CD81; CR2; ICOS; MS4A1; TNFRSF13B; TNFRSF13C;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001904Autoimmune neutropeniaHP:0040283
3 HP:0010976B lymphocytopenia
4 HP:0002110Bronchiectasis
5 HP:0000509Conjunctivitis
6 HP:0002014Diarrhea
7 HP:0002240Hepatomegaly
8 HP:0002720IgA deficiency
9 HP:0004315IgG deficiency
10 HP:0002850IgM deficiency
11 HP:0002721Immunodeficiency
12 HP:0005435Impaired T cell function
13 HP:0002716Lymphadenopathy
14 HP:0002090Pneumonia
15 HP:0002718Recurrent bacterial infections
16 HP:0002837Recurrent bronchitis
17 HP:0000403Recurrent otitis media
18 HP:0006532Recurrent pneumonia
19 HP:0011108Recurrent sinusitis
20 HP:0001744Splenomegaly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000002.12:g.(?_203866796)_(203959619_?)del-1CTLA4;ICOSPathogenic-1RCV001031085|RCV001381471; NMONDO:MONDO:0014493,MedGen:C4015214,OMIM:616100, Orphanet:436159|MONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204731519204824342nana-1-
NM_012092.4(ICOS):c.-24G>T29851ICOSUncertain significancers576726896RCV001142797; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204801514204801514GT2:g.204801514G>T-
NM_012092.4(ICOS):c.9A>C (p.Ser3=)29851ICOSLikely benign-1RCV001415456; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204801546204801546AC204801546-
NM_012092.4(ICOS):c.13C>T (p.Leu5Phe)29851ICOSUncertain significancers1689659275RCV001210135; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204801550204801550CT2:g.204801550C>T-
NM_012092.4(ICOS):c.40C>T (p.Arg14Cys)29851ICOSBenignrs77411896RCV000508428|RCV001080790; NMedGen:CN517202|MONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204801577204801577CT2:g.204801577C>TClinGen:CA2067192
NM_012092.4(ICOS):c.42C>A (p.Arg14=)29851ICOSConflicting interpretations of pathogenicityrs765158675RCV001142798; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204801579204801579CA2:g.204801579C>A-
NM_012092.4(ICOS):c.45T>G (p.Ile15Met)29851ICOSUncertain significancers762842725RCV001245269; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204801582204801582TG2:g.204801582T>G-
NM_012092.4(ICOS):c.58+1G>A29851ICOSLikely pathogenicrs757598952RCV000821966|RCV001027574; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:1572|MeSH:D000081207,MedGen:C51978052204801596204801596GA2:g.204801596G>A-
NM_012092.4(ICOS):c.58+9T>G29851ICOSConflicting interpretations of pathogenicityrs140049646RCV000537987; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204801604204801604TG2:g.204801604T>GClinGen:CA2067202
NM_012092.4(ICOS):c.71G>T (p.Gly24Val)29851ICOSUncertain significancers774325808RCV001220471; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204820371204820371GT2:g.204820371G>T-
NM_012092.4(ICOS):c.77C>A (p.Ala26Asp)29851ICOSUncertain significancers761695473RCV001043605; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204820377204820377CA2:g.204820377C>A-
NM_012092.4(ICOS):c.93T>C (p.Phe31=)29851ICOSLikely benignrs147754976RCV000971487; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204820393204820393TC2:g.204820393T>C-
NM_012092.4(ICOS):c.105C>T (p.Asn35=)29851ICOSConflicting interpretations of pathogenicityrs201031378RCV000380646|RCV001088933; NMedGen:CN517202|MONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204820405204820405CT2:g.204820405C>TClinGen:CA2067222CN169374 not specified;
NM_012092.4(ICOS):c.106G>A (p.Gly36Arg)29851ICOSUncertain significancers202109644RCV001064716; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204820406204820406GA2:g.204820406G>A-
NM_012092.4(ICOS):c.128A>G (p.Lys43Arg)29851ICOSUncertain significancers1367837109RCV001234328; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204820428204820428AG2:g.204820428A>G-
NM_012092.4(ICOS):c.129A>T (p.Lys43Asn)29851ICOSUncertain significancers1690065667RCV001332934; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204820429204820429AT204820429-
NM_012092.4(ICOS):c.150A>G (p.Gln50=)29851ICOSBenignrs55972840RCV001000417; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204820450204820450AG2:g.204820450A>GClinGen:CA2067228CN239296 Common Variable Immune Deficiency, Recessive;
NM_012092.4(ICOS):c.163T>C (p.Leu55=)29851ICOSLikely benignrs1291412174RCV000960608|RCV001423788; NMedGen:CN517202|MONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204820463204820463TC2:g.204820463T>C-
NM_012092.4(ICOS):c.177G>A (p.Gly59=)29851ICOSLikely benign-1RCV001486814; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204820477204820477GA204820477-
NM_012092.4(ICOS):c.181del (p.Ile61fs)29851ICOSPathogenicrs1690066397RCV001209974; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204820479204820479CAC2:g.204820479_204820479del-
NM_012092.4(ICOS):c.184C>T (p.Leu62Phe)29851ICOSUncertain significancers886055496RCV000344941; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204820484204820484CT2:g.204820484C>TClinGen:CA10612106CN239296 Common Variable Immune Deficiency, Recessive;
NM_012092.4(ICOS):c.186C>T (p.Leu62=)29851ICOSLikely benignrs1553499319RCV000648109; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204820486204820486CT2:g.204820486C>TClinGen:CA431122656C3149378 607594 Common variable immunodeficiency 1;
NM_012092.4(ICOS):c.229A>G (p.Ile77Val)29851ICOSUncertain significancers1048198057RCV001051354; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204820529204820529AG2:g.204820529A>G-
NM_012092.4(ICOS):c.271A>G (p.Ser91Gly)29851ICOSUncertain significancers1314279149RCV001244799; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204820571204820571AG2:g.204820571A>G-
NM_012092.4(ICOS):c.294C>T (p.Asn98=)29851ICOSLikely benign-1RCV001434777; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204820594204820594CT204820594-
NM_012092.4(ICOS):c.336A>G (p.Ser112=)29851ICOSLikely benign-1RCV001491214; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204820636204820636AG204820636-
NM_012092.4(ICOS):c.375A>G (p.Gly125=)29851ICOSConflicting interpretations of pathogenicityrs768500706RCV000966466; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204820675204820675AG2:g.204820675A>G-
NM_012092.4(ICOS):c.376G>A (p.Gly126Arg)29851ICOSUncertain significance-1RCV001361715; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204820676204820676GA204820676-
NM_012092.4(ICOS):c.390T>A (p.Ile130=)29851ICOSLikely benign-1RCV001487116; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204820690204820690TA204820690-
NM_012092.4(ICOS):c.394+2T>C29851ICOSLikely pathogenicrs1559035937RCV000695659; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204820696204820696TC2:g.204820696T>C-
NM_012092.4(ICOS):c.394+7C>T29851ICOSLikely benign-1RCV001432117; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204820701204820701CT204820701-
NM_012092.4(ICOS):c.401A>C (p.Gln134Pro)29851ICOSUncertain significancers367905290RCV000648106|RCV000658897; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:1572|MedGen:CN5172022204821388204821388AC2:g.204821388A>CClinGen:CA2067277C3149378 607594 Common variable immunodeficiency 1;
NM_012092.4(ICOS):c.402A>G (p.Gln134=)29851ICOSLikely benign-1RCV001457131; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204821389204821389AG204821389-
NM_012092.4(ICOS):c.438A>T (p.Gly146=)29851ICOSLikely benign-1RCV001503751; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204821425204821425AT204821425-
NM_012092.4(ICOS):c.451G>C (p.Val151Leu)29851ICOSConflicting interpretations of pathogenicityrs76778263RCV000591514|RCV000999898; NMedGen:CN517202|MONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204821438204821438GC2:g.204821438G>CClinGen:CA2067284CN169374 not specified;
NM_012092.4(ICOS):c.466T>G (p.Leu156Val)29851ICOSUncertain significancers1690083811RCV001298917; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204821453204821453TG204821453-
NM_012092.4(ICOS):c.471A>G (p.Gly157=)29851ICOSLikely benign-1RCV001458377; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204821458204821458AG204821458-
NM_012092.4(ICOS):c.495A>C (p.Thr165=)29851ICOSUncertain significancers565719501RCV001138058; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204821482204821482AC2:g.204821482A>C-
NM_012092.4(ICOS):c.500del (p.Lys167fs)29851ICOSUncertain significance-1RCV001360937; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204821482204821482CAC204821481-
NM_012092.4(ICOS):c.501+6C>T29851ICOSBenignrs4264550RCV000380844|RCV000456015|RCV001618588; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:1572|MedGen:CN169374|MedGen:CN5172022204821494204821494CT2:g.204821494C>TClinGen:CA2067293CN239296 Common Variable Immune Deficiency, Recessive;
NM_012092.4(ICOS):c.501+6C>G29851ICOSUncertain significancers4264550RCV000762313|RCV000806905; NMedGen:CN517202|MONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204821494204821494CG2:g.204821494C>G-
NM_012092.4(ICOS):c.501+7G>A29851ICOSBenignrs57149344RCV001000418; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204821495204821495GA2:g.204821495G>AClinGen:CA2067295CN239296 Common Variable Immune Deficiency, Recessive;
NM_012092.4(ICOS):c.502-6_502-5insG29851ICOSUncertain significance-1RCV001367144; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204822516204822517TTG204822516-
NM_012092.4(ICOS):c.502A>C (p.Lys168Gln)29851ICOSUncertain significancers1581607452RCV000802870; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204822522204822522AC2:g.204822522A>C-
NM_012092.4(ICOS):c.510A>G (p.Ser170=)29851ICOSConflicting interpretations of pathogenicityrs148435889RCV001138481; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204822530204822530AG2:g.204822530A>G-
NM_012092.4(ICOS):c.512C>A (p.Ser171Tyr)29851ICOSUncertain significancers780326986RCV001205080; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204822532204822532CA2:g.204822532C>A-
NM_012092.4(ICOS):c.516T>C (p.Ser172=)29851ICOSLikely benign-1RCV001414876; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204822536204822536TC204822536-
NM_012092.4(ICOS):c.523G>A (p.Asp175Asn)29851ICOSUncertain significancers778908715RCV001058255; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204822543204822543GA2:g.204822543G>A-
NM_012092.4(ICOS):c.531C>T (p.Asn177=)29851ICOSLikely benignrs370645286RCV000648107; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204822551204822551CT2:g.204822551C>TClinGen:CA2067322C3149378 607594 Common variable immunodeficiency 1;
NM_012092.4(ICOS):c.567C>G (p.Ala189=)29851ICOSLikely benign-1RCV001414132; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204822587204822587CG204822587-
NM_012092.4(ICOS):c.580C>A (p.Leu194Ile)29851ICOSUncertain significancers547175222RCV001338939; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204822600204822600CA204822600-
NM_012092.4(ICOS):c.586+2T>A29851ICOSUncertain significancers1559036416RCV000693250; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204822608204822608TA2:g.204822608T>A-
NM_012092.4(ICOS):c.586+3A>G29851ICOSUncertain significancers377370202RCV001035986; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204822609204822609AG2:g.204822609A>G-
NM_012092.4(ICOS):c.587-26T>G29851ICOSBenign-1RCV001702322|RCV001707921; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:1572|MedGen:CN5172022204824283204824283TG204824283-
NM_012092.4(ICOS):c.589G>A (p.Val197Met)29851ICOSUncertain significancers111644920RCV000824418; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204824311204824311GA2:g.204824311G>A-
NM_012092.4(ICOS):c.591G>A (p.Val197=)29851ICOSConflicting interpretations of pathogenicityrs55655222RCV000904179; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204824313204824313GA2:g.204824313G>AClinGen:CA2067349CN239296 Common Variable Immune Deficiency, Recessive;
NM_012092.4(ICOS):c.597A>G (p.Leu199=)29851ICOSConflicting interpretations of pathogenicityrs145698501RCV000398201|RCV000908529; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:1572|MedGen:CN5172022204824319204824319AG2:g.204824319A>GClinGen:CA2067351CN239296 Common Variable Immune Deficiency, Recessive;
NM_012092.4(ICOS):c.599A>G (p.Ter200=)29851ICOSLikely benign-1RCV001499420; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204824321204824321AG204824321-
NM_012092.4(ICOS):c.*2A>C29851ICOSBenignrs10183087RCV000311000|RCV000454953|RCV001691954; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:1572|MedGen:CN169374|MedGen:CN5172022204824324204824324AC2:g.204824324A>CClinGen:CA2067352CN239296 Common Variable Immune Deficiency, Recessive;
NM_012092.4(ICOS):c.*33T>C29851ICOSBenignrs73058105RCV000352194|RCV001691955; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:1572|MedGen:CN5172022204824355204824355TC2:g.204824355T>CClinGen:CA2067363CN239296 Common Variable Immune Deficiency, Recessive;
NM_012092.4(ICOS):c.*58T>G29851ICOSLikely benignrs551768116RCV000400464; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204824380204824380TG2:g.204824380T>GClinGen:CA10613942CN239296 Common Variable Immune Deficiency, Recessive;
NM_012092.4(ICOS):c.*73T>C29851ICOSUncertain significancers756570847RCV001138482; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204824395204824395TC2:g.204824395T>C-
NM_012092.4(ICOS):c.*77C>T29851ICOSUncertain significancers769887283RCV000298521; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204824399204824399CT2:g.204824399C>TClinGen:CA10613675
NM_012092.4(ICOS):c.*330G>A29851ICOSBenignrs10932035RCV000353434; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204824652204824652GA2:g.204824652G>AClinGen:CA10613678
NM_012092.4(ICOS):c.*399G>A29851ICOSUncertain significancers760083763RCV001141038; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204824721204824721GA2:g.204824721G>A-
NM_012092.4(ICOS):c.*474G>T29851ICOSUncertain significancers558652067RCV001141039; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204824796204824796GT2:g.204824796G>T-
NM_012092.4(ICOS):c.*512T>C29851ICOSUncertain significancers577478606RCV001141040; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204824834204824834TC2:g.204824834T>C-
NM_012092.4(ICOS):c.*594C>T29851ICOSUncertain significancers1391651175RCV001141041; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204824916204824916CT2:g.204824916C>T-
NM_012092.4(ICOS):c.*855T>C29851ICOSBenignrs73991306RCV000263300; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204825177204825177TC2:g.204825177T>CClinGen:CA10613680
NM_012092.4(ICOS):c.*859A>T29851ICOSBenignrs10932036RCV000299721; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204825181204825181AT2:g.204825181A>TClinGen:CA10612109
NM_012092.4(ICOS):c.*931A>G29851ICOSUncertain significancers886055497RCV000359149; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204825253204825253AG2:g.204825253A>GClinGen:CA10613944
NM_012092.4(ICOS):c.*939A>G29851ICOSUncertain significancers563893351RCV001142899; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204825261204825261AG2:g.204825261A>G-
NM_012092.4(ICOS):c.*964T>C29851ICOSBenignrs4404254RCV000264417|RCV001675830; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:1572|MedGen:CN5172022204825286204825286TC2:g.204825286T>CClinGen:CA10613681
NM_012092.4(ICOS):c.*977T>G29851ICOSUncertain significancers886055498RCV000324438; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204825299204825299TG2:g.204825299T>GClinGen:CA10613686
NM_012092.4(ICOS):c.*995C>T29851ICOSUncertain significancers190590580RCV000379044; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204825317204825317CT2:g.204825317C>TClinGen:CA10613687
NM_012092.4(ICOS):c.*1004C>G29851ICOSUncertain significancers866710563RCV000270545; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204825326204825326CG2:g.204825326C>GClinGen:CA10612110
NM_012092.4(ICOS):c.*1024C>T29851ICOSBenignrs10932037RCV000325562; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204825346204825346CT2:g.204825346C>TClinGen:CA10613945
NM_012092.4(ICOS):c.*1025A>G29851ICOSLikely benignrs77882417RCV000384889; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204825347204825347AG2:g.204825347A>GClinGen:CA10613948
NM_012092.4(ICOS):c.*1025A>T29851ICOSUncertain significancers77882417RCV001142900; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204825347204825347AT2:g.204825347A>T-
NM_012092.4(ICOS):c.*1093C>T29851ICOSUncertain significancers886055499RCV000290548; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204825415204825415CT2:g.204825415C>TClinGen:CA10612572
NM_012092.4(ICOS):c.*1094C>T29851ICOSUncertain significancers144036725RCV000350225; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204825416204825416CT2:g.204825416C>TClinGen:CA10612115
NM_012092.4(ICOS):c.*1095A>G29851ICOSBenignrs73991307RCV000386113; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204825417204825417AG2:g.204825417A>GClinGen:CA10612116
NM_012092.4(ICOS):c.*1137C>T29851ICOSUncertain significancers531066269RCV001138156; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204825459204825459CT2:g.204825459C>T-
NM_012092.4(ICOS):c.*1172G>A29851ICOSUncertain significancers1581609062RCV001138157; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204825494204825494GA2:g.204825494G>A-
NM_012092.4(ICOS):c.*1249G>A29851ICOSBenignrs73991308RCV000294755; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204825571204825571GA2:g.204825571G>AClinGen:CA10612132
NM_012092.4(ICOS):c.*1262A>G29851ICOSBenignrs10932038RCV000351956; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204825584204825584AG2:g.204825584A>GClinGen:CA10612134
NM_012092.4(ICOS):c.*1269A>C29851ICOSUncertain significancers1430869619RCV001138158; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204825591204825591AC2:g.204825591A>C-
NM_012092.4(ICOS):c.*1293T>C29851ICOSUncertain significancers528769953RCV000395163; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204825615204825615TC2:g.204825615T>CClinGen:CA10612137
NM_012092.4(ICOS):c.*1300C>T29851ICOSUncertain significancers181937379RCV001138587; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204825622204825622CT2:g.204825622C>T-
NM_012092.4(ICOS):c.*1407G>A29851ICOSBenignrs1559931RCV000298214|RCV001711946; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:1572|MedGen:CN5172022204825729204825729GA2:g.204825729G>AClinGen:CA10613688
NM_012092.4(ICOS):c.*1416G>T29851ICOSUncertain significancers56259923RCV001138588; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204825738204825738GT2:g.204825738G>T-
NM_012092.4(ICOS):c.*1457A>G29851ICOSUncertain significancers749858926RCV001138589; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204825779204825779AG2:g.204825779A>G-
NM_012092.4(ICOS):c.*1773G>C29851ICOSBenignrs4675379RCV000336703|RCV001653617; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:1572|MedGen:CN5172022204826095204826095GC2:g.204826095G>CClinGen:CA10613949
NM_012092.4(ICOS):c.*1854G>A29851ICOSUncertain significancers140979765RCV000390110; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204826176204826176GA2:g.204826176G>AClinGen:CA10612574
NM_012092.4(ICOS):c.*1869A>C29851ICOSUncertain significancers931854904RCV001138590; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204826191204826191AC2:g.204826191A>C-
NM_012092.4(ICOS):c.*1901A>G29851ICOSUncertain significancers1690178448RCV001141163; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204826223204826223AG2:g.204826223A>G-
NM_012092.4(ICOS):c.*1948G>T29851ICOSUncertain significancers777338223RCV001141164; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:15722204826270204826270GT2:g.204826270G>T-
NM_001322934.2(NFKB2):c.2564del (p.Lys855fs)4791NFKB2Pathogenicrs397514331RCV000055613|RCV000077760; NMONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:1572|MONDO:MONDO:0014260,MedGen:C3809991,OMIM:61557710104161901104161901CAC10:g.104161901_104161901delClinGen:CA144757,OMIM:164012.0001
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)23495TNFRSF13BConflicting interpretations of pathogenicity, risk factorrs34557412RCV000005624|RCV000005623|RCV000302082|RCV000403933|RCV000507544|RCV000735370|RCV001535526|RCV001283708|RCV001374734|RCV001526850; NMONDO:MONDO:0012291,MedGen:C1836032,OMIM:609529|MONDO:MONDO:0009413,MedGen:C3150354,OMIM:240500, Orphanet:1572|MedGen:CN239265|MedGen:CN517202|MedGen:CN169374|16 conditions|MONDO:MONDO:0011864,MedGen:C3149378,OMIM:607594, Orphanet:1572; MONDO:MONDO:0009413171685218716852187AG17:g.16852187A>GClinGen:CA117387,UniProtKB:O14836#VAR_024027,OMIM:604907.0001CN239265 Common Variable Immune Deficiency, Dominant;
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