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:
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Immunologic Deficiency Syndromes (D007153)
..Starting node
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IMMUNODEFICIENCY 44 (OMIM:616636)

       Child Nodes:



 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:6279
Name:IMMUNODEFICIENCY 44
Definition:
Alternative IDs:
ParentIDs:MESH:D007153
TreeNumbers:C20.673/616636
Synonyms:IMD44
Slim Mappings:Immune system disease
Reference: MedGen: 616636
MeSH: 616636
OMIM: 616636;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001298Encephalopathy
NAMDC:  Encephalopathy (At least one neurological manifestation marked with an *)
HP:0040283
3 HP:0003828Variable expressivity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000012.11:g.(?_56737153)_(56750375_?)dup6773STAT2Uncertain significance-1RCV000652760; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673715356750375nana-
NC_000012.11:g.(?_56737153)_(56737939_?)dup6773STAT2Uncertain significance-1RCV000815900; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673715356737939nana-
NM_005419.4(STAT2):c.2525C>A (p.Thr842Asn)6773STAT2Uncertain significancers1356843849RCV000793646; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673720456737204GT12:g.56737204G>T-
NM_005419.4(STAT2):c.2507G>A (p.Arg836His)6773STAT2Uncertain significancers759254318RCV000810155; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673722256737222CT12:g.56737222C>T-
NM_005419.4(STAT2):c.2506C>T (p.Arg836Cys)6773STAT2Uncertain significancers752192658RCV000798430; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673722356737223GA12:g.56737223G>A-
NM_005419.4(STAT2):c.2491G>A (p.Glu831Lys)6773STAT2Uncertain significancers755127513RCV000810908; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673723856737238CT12:g.56737238C>T-
NM_005419.4(STAT2):c.2478G>T (p.Gln826His)6773STAT2Benignrs2229363RCV000548114; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673725156737251CA12:g.56737251C>AClinGen:CA6630241C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.2474G>A (p.Gly825Asp)6773STAT2Uncertain significance-1RCV001204786; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673725556737255CT12:g.56737255C>T-
NM_005419.4(STAT2):c.2472_2473delinsCT (p.Gly825Cys)6773STAT2Benignrs1555169006RCV000537740; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673725656737257CAAGNC_000012.11:g.56737256_56737257delinsAGClinGen:CA658658160
NM_005419.4(STAT2):c.2450C>T (p.Pro817Leu)6773STAT2Uncertain significance-1RCV001048561; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673727956737279GA12:g.56737279G>A-
NM_005419.4(STAT2):c.2269T>C (p.Ser757Pro)6773STAT2Uncertain significance-1RCV001212070; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673775356737753AG12:g.56737753A>G-
NM_005419.4(STAT2):c.2191C>T (p.Pro731Ser)6773STAT2Uncertain significancers955030312RCV000805508; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673783156737831GA12:g.56737831G>A-
NM_005419.4(STAT2):c.2127G>A (p.Pro709=)6773STAT2Likely benignrs140174092RCV000948398; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673789556737895CT12:g.56737895C>T-
NC_000012.11:g.(?_56739910)_(56750375_?)dup6773STAT2Uncertain significance-1RCV000708000; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673991056750375nana-
NM_005419.4(STAT2):c.2060G>A (p.Arg687Gln)6773STAT2Uncertain significance-1RCV001043810; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673997256739972CT12:g.56739972C>T-
NM_005419.4(STAT2):c.2044+10G>A6773STAT2Likely benignrs752483816RCV000652756; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674021656740216CT12:g.56740216C>TClinGen:CA6630340
NM_005419.4(STAT2):c.2044+9C>T6773STAT2Likely benignrs200444661RCV000652755; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674021756740217GA12:g.56740217G>AClinGen:CA6630341C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.2030A>G (p.Tyr677Cys)6773STAT2Uncertain significancers1592467176RCV000813545; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674024056740240TC12:g.56740240T>C-
NM_005419.4(STAT2):c.2004C>G (p.Ile668Met)6773STAT2Uncertain significancers199528062RCV000652750|RCV000788168; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MedGen:CN517202125674026656740266GC12:g.56740266G>CClinGen:CA6630346
NM_005419.4(STAT2):c.2000G>A (p.Arg667Gln)6773STAT2Uncertain significance-1RCV001066299; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674027056740270CT12:g.56740270C>T-
NM_005419.4(STAT2):c.1999C>T (p.Arg667Ter)6773STAT2Pathogenicrs1565648608RCV000701416; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674027156740271GA12:g.56740271G>A-C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.1957_1959GAG[1] (p.Glu654del)6773STAT2Uncertain significancers775996290RCV000700216; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674030856740310TCTCT12:g.56740308_56740310del-
NM_005419.4(STAT2):c.1922T>C (p.Leu641Pro)6773STAT2Uncertain significance-1RCV001209794; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674034856740348AG12:g.56740348A>G-
NM_005419.4(STAT2):c.1903G>A (p.Val635Met)6773STAT2Uncertain significance-1RCV001040166; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674036756740367CT12:g.56740367C>T-
NM_005419.4(STAT2):c.1864A>C (p.Lys622Gln)6773STAT2Uncertain significancers151170889RCV000691263; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674040656740406TG12:g.56740406T>G-
NM_005419.4(STAT2):c.1836C>A (p.Cys612Ter)6773STAT2Pathogenicrs781522558RCV000202385; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674062856740628GT12:g.56740628G>TClinGen:CA214659,OMIM:600556.0002C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.1827_1829del (p.Ile610del)6773STAT2Uncertain significancers1592468046RCV000816111; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674063556740637AATGA12:g.56740635_56740637del-
NM_005419.4(STAT2):c.1823G>C (p.Gly608Ala)6773STAT2Uncertain significance-1RCV001061575; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674064156740641CG12:g.56740641C>G-
NM_005419.4(STAT2):c.1791del (p.Leu599fs)6773STAT2Pathogenic-1RCV001241439; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674067356740673AGA12:g.56740673_56740673del-
NM_005419.4(STAT2):c.1782G>C (p.Met594Ile)6773STAT2Benignrs2066807RCV000455792|RCV000559305; NMedGen:CN169374|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674068256740682CG12:g.56740682C>GClinGen:CA6630398C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.1762C>T (p.Arg588Trp)6773STAT2Uncertain significance-1RCV001203392; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674070256740702GA12:g.56740702G>A-
NM_005419.4(STAT2):c.1727G>T (p.Arg576Leu)6773STAT2Uncertain significancers200944055RCV000652752; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674073756740737CA12:g.56740737C>AClinGen:CA385260186
NM_005419.4(STAT2):c.1693C>T (p.His565Tyr)6773STAT2Uncertain significancers143700674RCV000806496; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674234456742344GA12:g.56742344G>A-
NM_005419.4(STAT2):c.1629+7C>T6773STAT2Likely benignrs1555170176RCV000652759; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674252956742529GA12:g.56742529G>AClinGen:CA658797923
NM_005419.4(STAT2):c.1612T>C (p.Trp538Arg)6773STAT2Uncertain significance-1RCV001059438; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674255356742553AG12:g.56742553A>G-
NM_005419.4(STAT2):c.1602_1604ATT[1] (p.Leu536del)6773STAT2Uncertain significance-1RCV001070574; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674255856742560CAATC12:g.56742558_56742560del-
NM_005419.4(STAT2):c.1466C>T (p.Pro489Leu)6773STAT2Uncertain significancers138681270RCV000788162|RCV000802302; NMedGen:CN517202|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674281856742818GA12:g.56742818G>A-
NM_005419.4(STAT2):c.1466C>A (p.Pro489His)6773STAT2Uncertain significance-1RCV001048902; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674281856742818GT12:g.56742818G>T-
NM_005419.4(STAT2):c.1462C>G (p.Pro488Ala)6773STAT2Likely benignrs750338004RCV000948896; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674282256742822GC12:g.56742822G>C-
NM_005419.4(STAT2):c.1390A>G (p.Ile464Val)6773STAT2Benignrs2066811RCV000534703; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674299756742997TC12:g.56742997T>CClinGen:CA6630526C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.1345G>A (p.Asp449Asn)6773STAT2Uncertain significancers766306027RCV000703937; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674304256743042CT12:g.56743042C>T-
NM_005419.4(STAT2):c.1344G>A (p.Thr448=)6773STAT2Uncertain significancers776389808RCV000807883; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674304356743043CT12:g.56743043C>T-
NM_005419.4(STAT2):c.1343C>T (p.Thr448Met)6773STAT2Benignrs2066815RCV000560792; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674304456743044GA12:g.56743044G>AClinGen:CA6630534
NM_005419.4(STAT2):c.1326G>A (p.Leu442=)6773STAT2Benignrs529406351RCV000652757; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674322556743225CT12:g.56743225C>TClinGen:CA6630557
NM_005419.4(STAT2):c.1320G>A (p.Gln440=)6773STAT2Uncertain significancers1292108569RCV000809332; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674323156743231CT12:g.56743231C>T-
NM_005419.4(STAT2):c.1301C>T (p.Thr434Met)6773STAT2Uncertain significancers146115536RCV000652751; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674325056743250GA12:g.56743250G>AClinGen:CA6630560
NM_005419.4(STAT2):c.1294A>G (p.Ser432Gly)6773STAT2Uncertain significancers779466832RCV000695815; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674325756743257TC12:g.56743257T>C-C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.1263A>C (p.Pro421=)6773STAT2Likely benignrs140141365RCV000974767; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674328856743288TG12:g.56743288T>G-
NM_005419.4(STAT2):c.1209+1del6773STAT2Pathogenicrs1592475699RCV000821148; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674388056743880ACA12:g.56743880_56743880del-
NM_005419.4(STAT2):c.1111C>G (p.Gln371Glu)6773STAT2Likely benignrs142439434RCV000907041; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674420056744200GC12:g.56744200G>C-
NM_005419.4(STAT2):c.1088T>C (p.Ile363Thr)6773STAT2Uncertain significancers771226498RCV000808355; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674461956744619AG12:g.56744619A>G-
NM_005419.4(STAT2):c.1062T>C (p.Asn354=)6773STAT2Likely benignrs375249113RCV000936326; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674464556744645AG12:g.56744645A>G-
NM_005419.4(STAT2):c.1061A>G (p.Asn354Ser)6773STAT2Uncertain significance-1RCV001059694; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674464656744646TC12:g.56744646T>C-
NM_005419.4(STAT2):c.989G>A (p.Arg330Gln)6773STAT2Uncertain significancers149666262RCV000190677|RCV000791837; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674492756744927CT12:g.56744927C>TClinGen:CA214609
NM_005419.4(STAT2):c.904G>A (p.Ala302Thr)6773STAT2Uncertain significance-1RCV001066159; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674511356745113CT12:g.56745113C>T-
NM_005419.4(STAT2):c.903C>T (p.Asn301=)6773STAT2Likely benignrs145152331RCV000652753; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674511456745114GA12:g.56745114G>AClinGen:CA6630734
NM_005419.4(STAT2):c.772C>T (p.Leu258=)6773STAT2Likely benignrs749010133RCV000938496; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674826056748260GA12:g.56748260G>A-
NM_005419.4(STAT2):c.759C>T (p.His253=)6773STAT2Benign/Likely benignrs147605088RCV000454686|RCV000652754; NMedGen:CN169374|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674827356748273GA12:g.56748273G>AClinGen:CA6630771C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.737G>C (p.Cys246Ser)6773STAT2Uncertain significance-1RCV001059695; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674829556748295CG12:g.56748295C>G-
NM_005419.4(STAT2):c.724C>G (p.Gln242Glu)6773STAT2Uncertain significance-1RCV001214005; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674830856748308GC12:g.56748308G>C-
NM_005419.4(STAT2):c.694C>A (p.Leu232Met)6773STAT2Uncertain significancers143159503RCV000818829; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674833856748338GT12:g.56748338G>T-
NM_005419.4(STAT2):c.538C>G (p.Gln180Glu)6773STAT2Uncertain significancers1592489044RCV000807124; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674906956749069GC12:g.56749069G>C-
NM_005419.4(STAT2):c.429T>A (p.His143Gln)6773STAT2Uncertain significance-1RCV001223533; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674926956749269AT12:g.56749269A>T-
NM_005419.4(STAT2):c.418A>G (p.Ser140Gly)6773STAT2Uncertain significance-1RCV001210593; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674928056749280TC12:g.56749280T>C-
NM_005419.4(STAT2):c.403G>A (p.Glu135Lys)6773STAT2Uncertain significance-1RCV001230385; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674929556749295CT12:g.56749295C>T-
NM_005419.4(STAT2):c.400C>T (p.Leu134Phe)6773STAT2Uncertain significancers1264238680RCV000537418; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674929856749298GA12:g.56749298G>AClinGen:CA385263403C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.381+5G>C6773STAT2Pathogenicrs281874770RCV000202375; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674948756749487CG12:g.56749487C>GClinGen:CA214658,OMIM:600556.0001
NM_005419.4(STAT2):c.379T>C (p.Leu127=)6773STAT2Benignrs2066812RCV000527071; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674949456749494AG12:g.56749494A>GClinGen:CA6630893C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.378A>G (p.Gln126=)6773STAT2Likely benignrs112826194RCV000944146; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674949556749495TC12:g.56749495T>C-
NM_005419.4(STAT2):c.340G>A (p.Glu114Lys)6773STAT2Uncertain significance-1RCV001049114; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674953356749533CT12:g.56749533C>T-
NM_005419.4(STAT2):c.331C>T (p.Leu111Phe)6773STAT2Uncertain significancers199890161RCV000698784; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674954256749542GA12:g.56749542G>A-C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.297G>C (p.Gln99His)6773STAT2Uncertain significance-1RCV001233807; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674957656749576CG12:g.56749576C>G-
NM_005419.4(STAT2):c.286-5T>C6773STAT2Likely benignrs111889584RCV000975308; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674959256749592AG12:g.56749592A>G-
NM_005419.4(STAT2):c.285+5T>C6773STAT2Likely benignrs79264292RCV000652758; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674991156749911AG12:g.56749911A>GClinGen:CA6630920
NM_005419.4(STAT2):c.274C>T (p.Arg92Trp)6773STAT2Uncertain significancers746815427RCV001257209; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674992756749927GA12:g.56749927G>A-
NM_005419.4(STAT2):c.250C>A (p.Gln84Lys)6773STAT2Uncertain significancers150901100RCV000788163|RCV000802910; NMedGen:CN517202|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674995156749951GT12:g.56749951G>T-
NM_005419.4(STAT2):c.165G>A (p.Lys55=)6773STAT2Benignrs199622368RCV000544491; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125675003656750036CT12:g.56750036C>TClinGen:CA6630935C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.135G>T (p.Gln45His)6773STAT2Uncertain significance-1RCV001247040; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125675006656750066CA12:g.56750066C>A-
NM_005419.4(STAT2):c.124C>A (p.Gln42Lys)6773STAT2Uncertain significance-1RCV001220034; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125675023256750232GT12:g.56750232G>T-
NM_005419.4(STAT2):c.116T>C (p.Ile39Thr)6773STAT2Uncertain significancers757152982RCV000545981; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125675024056750240AG12:g.56750240A>GClinGen:CA6630958
NM_005419.4(STAT2):c.109G>T (p.Val37Phe)6773STAT2Uncertain significancers144812882RCV000690233; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125675024756750247CA12:g.56750247C>A-
NM_005419.4(STAT2):c.106G>A (p.Ala36Thr)6773STAT2Uncertain significance-1RCV001208734; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125675025056750250CT12:g.56750250C>T-
NM_005419.4(STAT2):c.47A>G (p.Asp16Gly)6773STAT2Uncertain significance-1RCV001070160; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125675030956750309TC12:g.56750309T>C-
NM_005419.4(STAT2):c.34A>G (p.Ser12Gly)6773STAT2Uncertain significancers1565660719RCV000768098; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125675032256750322TC12:g.56750322T>C-
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