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
..expand
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
NM_000874.5(IFNAR2):c.236del (p.Asp78_Leu79insTer)3455IFNAR2Pathogenic1310889473RCV001283731|RCV001780205|RCV001879919; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MONDO:MONDO:0014727,MedGen:C4225252,OMIM:616669|MedGen:CN51720221346190353461903534619034OMIM:602376.0003
NM_000874.5(IFNAR2):c.555_559del (p.Ile185fs)3455IFNAR2Pathogenic1312285586RCV001283730|RCV001780204|RCV001879882; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MONDO:MONDO:0014727,MedGen:C4225252,OMIM:616669|MedGen:CN51720221346249813462498534624980OMIM:602376.0004
NC_000012.11:g.(?_56737153)_(56750375_?)dup6773STAT2Uncertain significance-1RCV000652760; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673715356750375-C4225260 616636 Immunodeficiency 44;
NC_000012.11:g.(?_56737153)_(56737939_?)dup6773STAT2Uncertain significance-1RCV000815900; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673715356737939-
NM_005419.4(STAT2):c.2543C>T (p.Pro848Leu)6773STAT2Uncertain significance2136031620RCV002024665; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567371865673718656737186-
NM_005419.4(STAT2):c.2539A>G (p.Met847Val)6773STAT2Uncertain significance772907846RCV001918583; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567371905673719056737190-
NM_005419.4(STAT2):c.2537T>G (p.Leu846Trp)6773STAT2Uncertain significance-1RCV003030902; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673719256737192NC_000012.11:g.56737192A>C-
NM_005419.4(STAT2):c.2536T>C (p.Leu846=)6773STAT2Likely benign760480590RCV002135225; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567371935673719356737193-
NM_005419.4(STAT2):c.2533C>A (p.Pro845Thr)6773STAT2Uncertain significance1876858706RCV001980191; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567371965673719656737196-
NM_005419.4(STAT2):c.2525C>A (p.Thr842Asn)6773STAT2Uncertain significance1356843849RCV000793646; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567372045673720412:g.56737204G>T-
NM_005419.4(STAT2):c.2525C>G (p.Thr842Ser)6773STAT2Uncertain significance-1RCV002780207; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673720456737204NC_000012.11:g.56737204G>C-
NM_005419.4(STAT2):c.2507G>A (p.Arg836His)6773STAT2Uncertain significance759254318RCV000810155; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567372225673722212:g.56737222C>T-
NM_005419.4(STAT2):c.2506C>T (p.Arg836Cys)6773STAT2Uncertain significance752192658RCV000798430; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567372235673722312:g.56737223G>A-
NM_005419.4(STAT2):c.2500G>A (p.Val834Ile)6773STAT2Uncertain significance-1RCV002637719; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673722956737229NC_000012.11:g.56737229C>T-
NM_005419.4(STAT2):c.2493G>A (p.Glu831=)6773STAT2Likely benign376716964RCV001459843; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567372365673723656737236-
NM_005419.4(STAT2):c.2491G>A (p.Glu831Lys)6773STAT2Uncertain significance755127513RCV000810908; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567372385673723812:g.56737238C>T-
NM_005419.4(STAT2):c.2485G>A (p.Val829Met)6773STAT2Uncertain significance144221064RCV001343134; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567372445673724456737244-
NM_005419.4(STAT2):c.2478G>T (p.Gln826His)6773STAT2Benign2229363RCV000548114|RCV002263813; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MedGen:C366190012567372515673725112:g.56737251C>AClinGen:CA6630241C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.2474G>A (p.Gly825Asp)6773STAT2Uncertain significance113083644RCV001204786; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567372555673725512:g.56737255C>T-
NM_005419.4(STAT2):c.2472_2473delinsCT (p.Gly825Cys)6773STAT2Benign1555169006RCV000537740; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673725656737257NC_000012.11:g.56737256_56737257delinsAGClinGen:CA658658160C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.2472T>C (p.Ala824=)6773STAT2Benign61754171RCV000455107|RCV002056705; NMedGen:CN169374|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567372575673725712:g.56737257A>GClinGen:CA6630244CN169374 not specified;
NM_005419.4(STAT2):c.2451G>A (p.Pro817=)6773STAT2Likely benign372474228RCV002540985; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567372785673727812:g.56737278C>T-
NM_005419.4(STAT2):c.2450C>T (p.Pro817Leu)6773STAT2Uncertain significance768593805RCV001048561; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567372795673727912:g.56737279G>A-
NM_005419.4(STAT2):c.2446A>C (p.Met816Leu)6773STAT2Uncertain significance-1RCV003118609; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673728356737283NC_000012.11:g.56737283T>G-
NM_005419.4(STAT2):c.2414-4C>T6773STAT2Likely benign536003567RCV001438203; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567373195673731956737319-
NM_005419.4(STAT2):c.2413+14T>C6773STAT2Likely benign-1RCV002623259; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673759556737595NC_000012.11:g.56737595A>G-
NM_005419.4(STAT2):c.2403G>A (p.Glu801=)6773STAT2Likely benign376647660RCV002075529; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567376195673761956737619-
NM_005419.4(STAT2):c.2377T>G (p.Cys793Gly)6773STAT2Uncertain significance2136033300RCV001902042; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567376455673764556737645-
NM_005419.4(STAT2):c.2373G>A (p.Leu791=)6773STAT2Likely benign200954848RCV002151947; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567376495673764956737649-
NM_005419.4(STAT2):c.2352G>C (p.Gln784His)6773STAT2Uncertain significance371190101RCV001915005|RCV002555264; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MeSH:D030342,MedGen:C095012312567376705673767056737670-
NM_005419.4(STAT2):c.2344G>A (p.Val782Ile)6773STAT2Uncertain significance-1RCV002720919; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673767856737678NC_000012.11:g.56737678C>T-
NM_005419.4(STAT2):c.2336A>G (p.Gln779Arg)6773STAT2Conflicting interpretations of pathogenicity540878199RCV001967623|RCV003289255; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MeSH:D030342,MedGen:C095012312567376865673768656737686-
NM_005419.4(STAT2):c.2323C>T (p.Pro775Ser)6773STAT2Uncertain significance1311671194RCV002024137; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567376995673769956737699-
NM_005419.4(STAT2):c.2299C>G (p.Leu767Val)6773STAT2Uncertain significance2136033628RCV001965547; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567377235673772356737723-
NM_005419.4(STAT2):c.2286G>A (p.Val762=)6773STAT2Likely benign-1RCV002876864; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673773656737736-
NM_005419.4(STAT2):c.2284G>A (p.Val762Met)6773STAT2Uncertain significance764242664RCV001296182|RCV003355359; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MeSH:D030342,MedGen:C095012312567377385673773856737738-
NM_005419.4(STAT2):c.2271C>T (p.Ser757=)6773STAT2Likely benign2136033711RCV001441092; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567377515673775156737751-
NM_005419.4(STAT2):c.2269T>C (p.Ser757Pro)6773STAT2Uncertain significance757246041RCV001212070; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567377535673775312:g.56737753A>G-
NM_005419.4(STAT2):c.2250G>A (p.Glu750=)6773STAT2Likely benign-1RCV002695899; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673777256737772-
NM_005419.4(STAT2):c.2244G>T (p.Gly748=)6773STAT2Likely benign1876969620RCV002078210; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567377785673777856737778-
NM_005419.4(STAT2):c.2239C>A (p.Leu747Met)6773STAT2Uncertain significance779990362RCV001295286; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567377835673778356737783-
NM_005419.4(STAT2):c.2236G>C (p.Asp746His)6773STAT2Uncertain significance760470820RCV001316756; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567377865673778656737786-
NM_005419.4(STAT2):c.2226G>A (p.Lys742=)6773STAT2Likely benign773936572RCV001500282; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567377965673779656737796-
NM_005419.4(STAT2):c.2212G>C (p.Glu738Gln)6773STAT2Uncertain significance-1RCV002741739; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673781056737810NC_000012.11:g.56737810C>G-
NM_005419.4(STAT2):c.2207A>C (p.Asp736Ala)6773STAT2Uncertain significance-1RCV002711968; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673781556737815NC_000012.11:g.56737815T>G-
NM_005419.4(STAT2):c.2196G>C (p.Glu732Asp)6773STAT2Uncertain significance-1RCV002616455|RCV002628128; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MeSH:D030342,MedGen:C0950123125673782656737826NC_000012.11:g.56737826C>G-
NM_005419.4(STAT2):c.2192C>A (p.Pro731Gln)6773STAT2Uncertain significance-1RCV002741740; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673783056737830NC_000012.11:g.56737830G>T-
NM_005419.4(STAT2):c.2191C>T (p.Pro731Ser)6773STAT2Uncertain significance955030312RCV000805508; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567378315673783112:g.56737831G>A-
NM_005419.4(STAT2):c.2169G>A (p.Leu723=)6773STAT2Likely benign-1RCV002909112; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673785356737853-
NM_005419.4(STAT2):c.2163A>G (p.Leu721=)6773STAT2Likely benign1475571946RCV001501262; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567378595673785956737859-
NM_005419.4(STAT2):c.2152C>T (p.Leu718=)6773STAT2Likely benign750452354RCV002115343; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567378705673787056737870-
NM_005419.4(STAT2):c.2130_2135del (p.Glu711_Leu712del)6773STAT2Uncertain significance1876989869RCV001345666; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567378875673789256737886-
NM_005419.4(STAT2):c.2127G>A (p.Pro709=)6773STAT2Likely benign140174092RCV000948398; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567378955673789512:g.56737895C>T-
NM_005419.4(STAT2):c.2116C>T (p.Leu706=)6773STAT2Likely benign144878478RCV001415294; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567379065673790656737906-
NM_005419.4(STAT2):c.2109G>A (p.Val703=)6773STAT2Likely benign189063117RCV001440601; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567379135673791356737913-
NM_005419.4(STAT2):c.2103-17T>C6773STAT2Likely benign772709033RCV001412067; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567379365673793656737936-
NM_005419.4(STAT2):c.2103-19T>C6773STAT2Likely benign746384106RCV001951579; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567379385673793856737938-
NC_000012.11:g.(?_56739910)_(56750375_?)dup6773STAT2Uncertain significance-1RCV000708000; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673991056750375-C4225260 616636 Immunodeficiency 44;
NC_000012.11:g.(?_56739910)_(56750355_?)dup6773STAT2Uncertain significance-1RCV001955802; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673991056750355-1-
NC_000012.11:g.(?_56739910)_(56740759_?)del6773STAT2Uncertain significance-1RCV003116364; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673991056740759-
NM_005419.4(STAT2):c.2102+9_2102+12dup6773STAT2Likely benign2136041821RCV002092005; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567399175673991856739917-
NM_005419.4(STAT2):c.2099A>G (p.Asn700Ser)6773STAT2Uncertain significance368002633RCV001532697|RCV001882591|RCV002568213; NMedGen:C3661900|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MeSH:D030342,MedGen:C095012312567399335673993356739933-
NM_005419.4(STAT2):c.2079C>G (p.His693Gln)6773STAT2Uncertain significance200918874RCV001887361; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567399535673995356739953-
NM_005419.4(STAT2):c.2060G>A (p.Arg687Gln)6773STAT2Uncertain significance1196807040RCV001043810; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567399725673997212:g.56739972C>T-
NM_005419.4(STAT2):c.2059C>T (p.Arg687Trp)6773STAT2Uncertain significance746480042RCV001321281; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567399735673997356739973-
NM_005419.4(STAT2):c.2053C>A (p.Gln685Lys)6773STAT2Uncertain significance-1RCV002580413; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125673997956739979NC_000012.11:g.56739979G>T-
NM_005419.4(STAT2):c.2050C>G (p.Leu684Val)6773STAT2Uncertain significance1877427436RCV001902162; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567399825673998256739982-
NM_005419.4(STAT2):c.2045-9T>G6773STAT2Uncertain significance1291159527RCV001335269; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567399965673999656739996-
NM_005419.4(STAT2):c.2045-13A>G6773STAT2Likely benign1877431475RCV002101502; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567400005674000056740000-
NM_005419.4(STAT2):c.2045-14T>C6773STAT2Likely benign-1RCV002881017; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674000156740001NC_000012.11:g.56740001A>G-
NM_005419.4(STAT2):c.2044+15C>T6773STAT2Likely benign1432576150RCV002158725; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567402115674021156740211-
NM_005419.4(STAT2):c.2044+10G>A6773STAT2Likely benign752483816RCV000652756; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674021656740216NC_000012.11:g.56740216C>TClinGen:CA6630340C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.2044+9C>T6773STAT2Likely benign200444661RCV000652755; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567402175674021712:g.56740217G>AClinGen:CA6630341C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.2036A>G (p.Gln679Arg)6773STAT2Uncertain significance-1RCV003058983; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674023456740234NC_000012.11:g.56740234T>C-
NM_005419.4(STAT2):c.2030A>G (p.Tyr677Cys)6773STAT2Uncertain significance1592467176RCV000813545; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567402405674024012:g.56740240T>C-
NM_005419.4(STAT2):c.2008C>T (p.Arg670Trp)6773STAT2Uncertain significance1330342244RCV001319190; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567402625674026256740262-
NM_005419.4(STAT2):c.2004C>G (p.Ile668Met)6773STAT2Uncertain significance199528062RCV000652750|RCV000788168; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MedGen:CN517202125674026656740266NC_000012.11:g.56740266G>CClinGen:CA6630346C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.2000G>A (p.Arg667Gln)6773STAT2Uncertain significance200606416RCV001066299|RCV002480423; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166; MONDO:MONDO:0030044,MedGen:C5394391,OMIM:61888612567402705674027012:g.56740270C>T-
NM_005419.4(STAT2):c.1999C>T (p.Arg667Ter)6773STAT2Pathogenic1565648608RCV000701416; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567402715674027112:g.56740271G>AOMIM:600556.0005C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.1985G>A (p.Arg662His)6773STAT2Uncertain significance773618917RCV001297508; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567402855674028556740285-
NM_005419.4(STAT2):c.1984C>T (p.Arg662Cys)6773STAT2Uncertain significance-1RCV002770123|RCV003443079; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MedGen:C3661900125674028656740286NC_000012.11:g.56740286G>A-
NM_005419.4(STAT2):c.1970C>G (p.Pro657Arg)6773STAT2Uncertain significance-1RCV002294809; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567403005674030056740300-
NM_005419.4(STAT2):c.1969C>T (p.Pro657Ser)6773STAT2Uncertain significance369986109RCV001886348|RCV003164271; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MeSH:D030342,MedGen:C095012312567403015674030156740301-
NM_005419.4(STAT2):c.1965T>C (p.Asn655=)6773STAT2Likely benign-1RCV002893847; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674030556740305-
NM_005419.4(STAT2):c.1964A>C (p.Asn655Thr)6773STAT2Uncertain significance-1RCV003008171; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674030656740306NC_000012.11:g.56740306T>G-
NM_005419.4(STAT2):c.1963A>C (p.Asn655His)6773STAT2Uncertain significance2136043124RCV001937576; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567403075674030756740307-
NM_005419.4(STAT2):c.1957GAG[1] (p.Glu654del)6773STAT2Uncertain significance775996290RCV000700216; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674030856740310NC_000012.11:g.56740308CTC[1]-C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.1936C>T (p.Arg646Cys)6773STAT2Uncertain significance763862558RCV001916176; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567403345674033456740334-
NM_005419.4(STAT2):c.1922T>C (p.Leu641Pro)6773STAT2Uncertain significance751279183RCV001209794; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567403485674034812:g.56740348A>G-
NM_005419.4(STAT2):c.1920G>A (p.Pro640=)6773STAT2Likely benign764359554RCV002105357; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567403505674035056740350-
NM_005419.4(STAT2):c.1908G>A (p.Leu636=)6773STAT2Likely benign752167819RCV001477022; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567403625674036256740362-
NM_005419.4(STAT2):c.1903G>A (p.Val635Met)6773STAT2Uncertain significance1278719364RCV001040166; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567403675674036712:g.56740367C>T-
NM_005419.4(STAT2):c.1896G>A (p.Thr632=)6773STAT2Likely benign-1RCV003070423; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674037456740374-
NM_005419.4(STAT2):c.1890G>A (p.Pro630=)6773STAT2Likely benign111274768RCV001435394; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567403805674038056740380-
NM_005419.4(STAT2):c.1873A>T (p.Ile625Phe)6773STAT2Uncertain significance747243330RCV000788167|RCV002535768; NMedGen:CN517202|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567403975674039712:g.56740397T>A-
NM_005419.4(STAT2):c.1864A>C (p.Lys622Gln)6773STAT2Uncertain significance151170889RCV000691263; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674040656740406NC_000012.11:g.56740406T>G-C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.1862-4C>T6773STAT2Likely benign-1RCV002675803; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674041256740412NC_000012.11:g.56740412G>A-
NM_005419.4(STAT2):c.1862-8C>T6773STAT2Likely benign-1RCV002868010; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674041656740416NC_000012.11:g.56740416G>A-
NM_005419.4(STAT2):c.1862-10C>T6773STAT2Likely benign-1RCV002814802; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674041856740418NC_000012.11:g.56740418G>A-
NM_005419.4(STAT2):c.1862-15G>T6773STAT2Likely benign-1RCV002755711; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674042356740423NC_000012.11:g.56740423C>A-
NM_005419.4(STAT2):c.1857T>G (p.Asp619Glu)6773STAT2Uncertain significance2136044076RCV002031770; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567406075674060756740607-
NM_005419.4(STAT2):c.1852C>T (p.Gln618Ter)6773STAT2Pathogenic1391401672RCV001962971; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567406125674061256740612-
NM_005419.4(STAT2):c.1836C>A (p.Cys612Ter)6773STAT2Pathogenic781522558RCV000202385; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567406285674062812:g.56740628G>TClinGen:CA214659,OMIM:600556.0002C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.1827_1829del (p.Ile610del)6773STAT2Uncertain significance1592468046RCV000816111; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567406355674063712:g.56740635_56740637del-
NM_005419.4(STAT2):c.1826del (p.Gly609fs)6773STAT2Pathogenic2136044173RCV002002410; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567406385674063856740637-
NM_005419.4(STAT2):c.1823G>C (p.Gly608Ala)6773STAT2Uncertain significance746061720RCV001061575; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567406415674064112:g.56740641C>G-
NM_005419.4(STAT2):c.1815G>A (p.Ser605=)6773STAT2Likely benign369254719RCV001491586; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567406495674064956740649-
NM_005419.4(STAT2):c.1812A>G (p.Glu604=)6773STAT2Likely benign1415888789RCV001484049; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567406525674065256740652-
NM_005419.4(STAT2):c.1798C>T (p.Leu600=)6773STAT2Likely benign-1RCV003010170; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674066656740666-
NM_005419.4(STAT2):c.1797A>G (p.Leu599=)6773STAT2Likely benign774163415RCV002101432; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567406675674066756740667-
NM_005419.4(STAT2):c.1791del (p.Leu599fs)6773STAT2Pathogenic1877554115RCV001241439; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567406735674067312:g.56740673_56740673del-
NM_005419.4(STAT2):c.1782G>C (p.Met594Ile)6773STAT2Benign2066807RCV000455792|RCV000559305; NMedGen:CN169374|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567406825674068212:g.56740682C>GClinGen:CA6630398C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.1766T>C (p.Leu589Pro)6773STAT2Uncertain significance753344785RCV001342111; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567406985674069856740698-
NM_005419.4(STAT2):c.1762C>T (p.Arg588Trp)6773STAT2Uncertain significance201461349RCV001203392; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567407025674070212:g.56740702G>A-
NM_005419.4(STAT2):c.1760G>A (p.Arg587His)6773STAT2Uncertain significance-1RCV003090707; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674070456740704NC_000012.11:g.56740704C>T-
NM_005419.4(STAT2):c.1749G>C (p.Arg583=)6773STAT2Likely benign1565649322RCV001423666; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567407155674071556740715-
NM_005419.4(STAT2):c.1748G>A (p.Arg583Gln)6773STAT2Uncertain significance1018464203RCV001959387; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567407165674071656740716-
NM_005419.4(STAT2):c.1745G>A (p.Ser582Asn)6773STAT2Uncertain significance1490818178RCV001344062; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567407195674071956740719-
NM_005419.4(STAT2):c.1727G>T (p.Arg576Leu)6773STAT2Uncertain significance200944055RCV000652752; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674073756740737NC_000012.11:g.56740737C>AClinGen:CA385260186C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.1726C>T (p.Arg576Cys)6773STAT2Uncertain significance780130229RCV001889697; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567407385674073856740738-
NM_005419.4(STAT2):c.1725-9G>C6773STAT2Likely benign-1RCV002685697; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674074856740748NC_000012.11:g.56740748C>G-
NM_005419.4(STAT2):c.1725-13C>G6773STAT2Likely benign-1RCV003046523; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674075256740752NC_000012.11:g.56740752G>C-
NM_005419.4(STAT2):c.1704G>A (p.Leu568=)6773STAT2Likely benign-1RCV002976025; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674233356742333-
NM_005419.4(STAT2):c.1694A>G (p.His565Arg)6773STAT2Uncertain significance-1RCV002982963; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674234356742343NC_000012.11:g.56742343T>C-
NM_005419.4(STAT2):c.1693C>T (p.His565Tyr)6773STAT2Uncertain significance143700674RCV000806496; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567423445674234412:g.56742344G>A-
NM_005419.4(STAT2):c.1680T>A (p.Ile560=)6773STAT2Likely benign777649174RCV001473939; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567423575674235756742357-
NM_005419.4(STAT2):c.1674C>A (p.Asp558Glu)6773STAT2Uncertain significance-1RCV002597088; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674236356742363NC_000012.11:g.56742363G>T-
NM_005419.4(STAT2):c.1665A>G (p.Thr555=)6773STAT2Likely benign150170283RCV001465792; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567423725674237256742372-
NM_005419.4(STAT2):c.1642C>T (p.Pro548Ser)6773STAT2Uncertain significance-1RCV003121138; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674239556742395NC_000012.11:g.56742395G>A-
NM_005419.4(STAT2):c.1632A>G (p.Arg544=)6773STAT2Likely benign1173440726RCV001470349; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567424055674240556742405-
NM_005419.4(STAT2):c.1631G>A (p.Arg544Gln)6773STAT2Uncertain significance774850939RCV002043931; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567424065674240656742406-
NM_005419.4(STAT2):c.1630-2A>G6773STAT2Likely pathogenic-1RCV002837544; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674240956742409NC_000012.11:g.56742409T>C-
NM_005419.4(STAT2):c.1630-9C>T6773STAT2Likely benign-1RCV003014252; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674241656742416NC_000012.11:g.56742416G>A-
NM_005419.4(STAT2):c.1630-13A>G6773STAT2Likely benign-1RCV003077223; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674242056742420NC_000012.11:g.56742420T>C-
NM_005419.4(STAT2):c.1629+18G>C6773STAT2Likely benign-1RCV002870677; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674251856742518NC_000012.11:g.56742518C>G-
NM_005419.4(STAT2):c.1629+17T>C6773STAT2Likely benign-1RCV002741238; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674251956742519NC_000012.11:g.56742519A>G-
NM_005419.4(STAT2):c.1629+12A>G6773STAT2Likely benign2136051941RCV002169095; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567425245674252456742524-
NM_005419.4(STAT2):c.1629+7C>T6773STAT2Likely benign1555170176RCV000652759; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674252956742529NC_000012.11:g.56742529G>AClinGen:CA658797923C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.1618G>A (p.Asp540Asn)6773STAT2Uncertain significance1877949552RCV001349708; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567425475674254756742547-
NM_005419.4(STAT2):c.1612T>C (p.Trp538Arg)6773STAT2Uncertain significance1877950590RCV001059438; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567425535674255312:g.56742553A>G-
NM_005419.4(STAT2):c.1611C>G (p.Ser537=)6773STAT2Likely benign1229846918RCV001460050; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567425545674255412:g.56742554G>C-
NM_005419.4(STAT2):c.1611C>T (p.Ser537=)6773STAT2Likely benign1229846918RCV002200718; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567425545674255456742554-
NM_005419.4(STAT2):c.1602ATT[1] (p.Leu536del)6773STAT2Uncertain significance1877953548RCV001070574; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567425585674256012:g.56742558_56742560del-
NM_005419.4(STAT2):c.1606T>C (p.Leu536=)6773STAT2Likely benign2136052162RCV001485471; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567425595674255956742559-
NM_005419.4(STAT2):c.1580del (p.Gln527fs)6773STAT2Pathogenic2136052256RCV002037674; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567425855674258556742584-
NM_005419.4(STAT2):c.1577-1G>A6773STAT2Likely pathogenic2136052278RCV002014075; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567425895674258956742589-
NM_005419.4(STAT2):c.1577-15C>T6773STAT2Likely benign-1RCV003100258; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674260356742603NC_000012.11:g.56742603G>A-
NM_005419.4(STAT2):c.1576+18T>A6773STAT2Likely benign200578923RCV001480531; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567426905674269056742690-
NM_005419.4(STAT2):c.1576G>A (p.Gly526Arg)6773STAT2Pathogenic-1RCV003062522; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674270856742708NC_000012.11:g.56742708C>T-
NM_005419.4(STAT2):c.1558C>G (p.Leu520Val)6773STAT2Uncertain significance2136052949RCV001361967; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567427265674272656742726-
NM_005419.4(STAT2):c.1555A>G (p.Met519Val)6773STAT2Uncertain significance190412290RCV001935409; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567427295674272956742729-
NM_005419.4(STAT2):c.1528C>T (p.Arg510Ter)6773STAT2Pathogenic2136053029RCV001994758; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567427565674275656742756-
NM_005419.4(STAT2):c.1514CCT[1] (p.Ser506del)6773STAT2Uncertain significance-1RCV003071169; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674276556742767NC_000012.11:g.56742767GAG[1]-
NM_005419.4(STAT2):c.1509G>T (p.Gln503His)6773STAT2Uncertain significance-1RCV002297733; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567427755674277556742775-
NM_005419.4(STAT2):c.1482C>T (p.Ser494=)6773STAT2Likely benign-1RCV002595520; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674280256742802-
NM_005419.4(STAT2):c.1467dup (p.Lys490fs)6773STAT2Pathogenic763294380RCV001949245; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567428165674281756742816-
NM_005419.4(STAT2):c.1466C>T (p.Pro489Leu)6773STAT2Uncertain significance138681270RCV000788162|RCV000802302|RCV003117576; NMedGen:C3661900|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|12567428185674281812:g.56742818G>A-
NM_005419.4(STAT2):c.1466C>A (p.Pro489His)6773STAT2Uncertain significance138681270RCV001048902; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567428185674281812:g.56742818G>T-
NM_005419.4(STAT2):c.1466C>G (p.Pro489Arg)6773STAT2Uncertain significance138681270RCV001365482; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567428185674281856742818-
NM_005419.4(STAT2):c.1465C>A (p.Pro489Thr)6773STAT2Uncertain significance-1RCV002617508; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674281956742819NC_000012.11:g.56742819G>T-
NM_005419.4(STAT2):c.1465C>G (p.Pro489Ala)6773STAT2Uncertain significance-1RCV002701438; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674281956742819NC_000012.11:g.56742819G>C-
NM_005419.4(STAT2):c.1464C>T (p.Pro488=)6773STAT2Likely benign-1RCV002680829; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674282056742820-
NM_005419.4(STAT2):c.1463C>T (p.Pro488Leu)6773STAT2Uncertain significance-1RCV002609761; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674282156742821NC_000012.11:g.56742821G>A-
NM_005419.4(STAT2):c.1462C>G (p.Pro488Ala)6773STAT2Conflicting interpretations of pathogenicity750338004RCV000948896|RCV002546016; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MeSH:D030342,MedGen:C095012312567428225674282212:g.56742822G>C-
NM_005419.4(STAT2):c.1462C>T (p.Pro488Ser)6773STAT2Uncertain significance-1RCV002806127; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674282256742822NC_000012.11:g.56742822G>A-
NM_005419.4(STAT2):c.1445A>T (p.Gln482Leu)6773STAT2Uncertain significance-1RCV002302896; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567428395674283956742839-
NM_005419.4(STAT2):c.1441-14T>C6773STAT2Likely benign-1RCV002918607; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674285756742857NC_000012.11:g.56742857A>G-
NM_005419.4(STAT2):c.1440+16C>T6773STAT2Likely benign-1RCV002594632; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674293156742931NC_000012.11:g.56742931G>A-
NM_005419.4(STAT2):c.1440+9G>A6773STAT2Likely benign373151952RCV001441744; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567429385674293856742938-
NM_005419.4(STAT2):c.1418A>C (p.Asn473Thr)6773STAT2Uncertain significance746423465RCV001992235; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567429695674296956742969-
NM_005419.4(STAT2):c.1404A>G (p.Ser468=)6773STAT2Likely benign-1RCV003091487; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674298356742983-
NM_005419.4(STAT2):c.1393G>T (p.Ala465Ser)6773STAT2Uncertain significance80325067RCV002031331; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567429945674299456742994-
NM_005419.4(STAT2):c.1390A>G (p.Ile464Val)6773STAT2Benign2066811RCV000534703; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567429975674299712:g.56742997T>CClinGen:CA6630526C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.1374C>T (p.Asn458=)6773STAT2Likely benign-1RCV003062778; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674301356743013-
NM_005419.4(STAT2):c.1368T>C (p.Ile456=)6773STAT2Likely benign901627272RCV002136012; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567430195674301956743019-
NM_005419.4(STAT2):c.1360G>A (p.Val454Met)6773STAT2Uncertain significance-1RCV002585641; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674302756743027NC_000012.11:g.56743027C>T-
NM_005419.4(STAT2):c.1350C>T (p.Thr450=)6773STAT2Likely benign769526830RCV001427620; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567430375674303756743037-
NM_005419.4(STAT2):c.1345G>A (p.Asp449Asn)6773STAT2Uncertain significance766306027RCV000703937; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674304256743042NC_000012.11:g.56743042C>T-C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.1344G>A (p.Thr448=)6773STAT2Uncertain significance776389808RCV000807883; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567430435674304312:g.56743043C>T-
NM_005419.4(STAT2):c.1343C>T (p.Thr448Met)6773STAT2Benign2066815RCV000560792; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674304456743044NC_000012.11:g.56743044G>AClinGen:CA6630534C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.1342-16C>T6773STAT2Likely benign1479761346RCV002140199; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567430615674306156743061-
NM_005419.4(STAT2):c.1341+17G>A6773STAT2Likely benign-1RCV003064885; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674319356743193NC_000012.11:g.56743193C>T-
NM_005419.4(STAT2):c.1331A>C (p.Gln444Pro)6773STAT2Uncertain significance763840968RCV002028369; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567432205674322056743220-
NM_005419.4(STAT2):c.1326G>A (p.Leu442=)6773STAT2Benign529406351RCV000652757; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674322556743225NC_000012.11:g.56743225C>TClinGen:CA6630557C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.1320G>A (p.Gln440=)6773STAT2Uncertain significance1292108569RCV000809332; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567432315674323112:g.56743231C>T-
NM_005419.4(STAT2):c.1308A>G (p.Lys436=)6773STAT2Likely benign-1RCV002881150; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674324356743243-
NM_005419.4(STAT2):c.1302G>A (p.Thr434=)6773STAT2Likely benign766872480RCV002101329; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567432495674324956743249-
NM_005419.4(STAT2):c.1301C>T (p.Thr434Met)6773STAT2Uncertain significance146115536RCV000652751; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674325056743250NC_000012.11:g.56743250G>AClinGen:CA6630560C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.1294A>G (p.Ser432Gly)6773STAT2Uncertain significance779466832RCV000695815; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567432575674325712:g.56743257T>C-C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.1291A>C (p.Ile431Leu)6773STAT2Uncertain significance1210130386RCV001974174; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567432605674326056743260-
NM_005419.4(STAT2):c.1263A>C (p.Pro421=)6773STAT2Likely benign140141365RCV000974767; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567432885674328812:g.56743288T>G-
NM_005419.4(STAT2):c.1261C>T (p.Pro421Ser)6773STAT2Uncertain significance-1RCV002974972; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674329056743290NC_000012.11:g.56743290G>A-
NM_005419.4(STAT2):c.1258-3C>T6773STAT2Uncertain significance2136055847RCV001879684; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567432965674329656743296-
NM_005419.4(STAT2):c.1258-4C>T6773STAT2Likely benign1360587836RCV001471169; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567432975674329712:g.56743297G>A-
NM_005419.4(STAT2):c.1258-12T>C6773STAT2Likely benign2136055926RCV002111484; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567433055674330556743305-
NM_005419.4(STAT2):c.1258-19_1258-18del6773STAT2Likely benign1878106269RCV002152354; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567433115674331256743310-
NM_005419.4(STAT2):c.1258-19A>G6773STAT2Likely benign372974784RCV002126293; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567433125674331256743312-
NM_005419.4(STAT2):c.1257+16_1257+17del6773STAT2Likely benign-1RCV003030518; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674335656743357NC_000012.11:g.56743356CT[1]-
NM_005419.4(STAT2):c.1257+14del6773STAT2Likely benign-1RCV002876559; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674335956743359NC_000012.11:g.56743359del-
NM_005419.4(STAT2):c.1257+6A>G6773STAT2Benign2020854RCV001516223; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567433675674336756743367-
NM_005419.4(STAT2):c.1257G>C (p.Lys419Asn)6773STAT2Uncertain significance-1RCV002833849; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674337356743373NC_000012.11:g.56743373C>G-
NM_005419.4(STAT2):c.1253A>G (p.Asn418Ser)6773STAT2Uncertain significance-1RCV003073603; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674337756743377NC_000012.11:g.56743377T>C-
NM_005419.4(STAT2):c.1249A>G (p.Ser417Gly)6773STAT2Uncertain significance-1RCV002588178; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674338156743381NC_000012.11:g.56743381T>C-
NM_005419.4(STAT2):c.1239A>G (p.Ser413=)6773STAT2Likely benign1592474545RCV001418458; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567433915674339112:g.56743391T>C-
NM_005419.4(STAT2):c.1226G>A (p.Arg409His)6773STAT2Uncertain significance-1RCV002810160|RCV002810161; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MeSH:D030342,MedGen:C0950123125674340456743404NC_000012.11:g.56743404C>T-
NM_005419.4(STAT2):c.1224A>G (p.Gln408=)6773STAT2Likely benign374293376RCV001471543; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567434065674340656743406-
NM_005419.4(STAT2):c.1210-3C>T6773STAT2Uncertain significance111996676RCV001864995; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567434235674342356743423-
NM_005419.4(STAT2):c.1209+1del6773STAT2Pathogenic1592475699RCV000821148; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567438805674388012:g.56743880_56743880del-
NM_005419.4(STAT2):c.1200T>C (p.Phe400=)6773STAT2Likely benign747925054RCV002158904; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567438905674389056743890-
NM_005419.4(STAT2):c.1155T>G (p.Thr385=)6773STAT2Likely benign2136059059RCV002148765; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567439355674393556743935-
NM_005419.4(STAT2):c.1116-10_1116-8del6773STAT2Likely benign1727191043RCV002175954; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567439825674398456743981-
NM_005419.4(STAT2):c.1116-18A>C6773STAT2Likely benign-1RCV002585366; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674399256743992NC_000012.11:g.56743992T>G-
NM_005419.4(STAT2):c.1115+13C>T6773STAT2Likely benign2136060343RCV001495181; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567441835674418356744183-
NM_005419.4(STAT2):c.1115+8C>T6773STAT2Likely benign-1RCV003000117; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674418856744188NC_000012.11:g.56744188G>A-
NM_005419.4(STAT2):c.1111C>G (p.Gln371Glu)6773STAT2Likely benign142439434RCV000907041; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567442005674420012:g.56744200G>C-
NM_005419.4(STAT2):c.1110A>G (p.Leu370=)6773STAT2Likely benign138053074RCV002205002; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567442015674420156744201-
NM_005419.4(STAT2):c.1107A>G (p.Gln369=)6773STAT2Likely benign766617497RCV001931316; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567442045674420456744204-
NM_005419.4(STAT2):c.1102C>G (p.Pro368Ala)6773STAT2Uncertain significance757072598RCV001368326; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567442095674420956744209-
NM_005419.4(STAT2):c.1095-8C>G6773STAT2Likely benign1394437712RCV001440453; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567442245674422412:g.56744224G>C-
NM_005419.4(STAT2):c.1095-13T>A6773STAT2Likely benign1306451333RCV002099743; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567442295674422956744229-
NM_005419.4(STAT2):c.1095-19T>A6773STAT2Likely benign11575235RCV002196290; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567442355674423556744235-
NM_005419.4(STAT2):c.1094+16T>G6773STAT2Likely benign2136062390RCV002104658; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567445975674459756744597-
NM_005419.4(STAT2):c.1094+13A>C6773STAT2Likely benign2136062424RCV002149916; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567446005674460056744600-
NM_005419.4(STAT2):c.1094+4A>C6773STAT2Uncertain significance1399043025RCV001934863; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567446095674460956744609-
NM_005419.4(STAT2):c.1088T>C (p.Ile363Thr)6773STAT2Uncertain significance771226498RCV000808355|RCV003166272; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MeSH:D030342,MedGen:C095012312567446195674461912:g.56744619A>G-
NM_005419.4(STAT2):c.1081G>A (p.Val361Ile)6773STAT2Uncertain significance2136062522RCV001979978; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567446265674462656744626-
NM_005419.4(STAT2):c.1077G>A (p.Val359=)6773STAT2Likely benign571320781RCV002149527; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567446305674463056744630-
NM_005419.4(STAT2):c.1074T>A (p.Thr358=)6773STAT2Likely benign-1RCV003024833; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674463356744633-
NM_005419.4(STAT2):c.1062T>C (p.Asn354=)6773STAT2Likely benign375249113RCV000936326; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567446455674464512:g.56744645A>G-
NM_005419.4(STAT2):c.1061A>G (p.Asn354Ser)6773STAT2Uncertain significance1432107994RCV001059694; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567446465674464612:g.56744646T>C-
NM_005419.4(STAT2):c.1050C>T (p.Leu350=)6773STAT2Likely benign-1RCV003040485; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674465756744657-
NM_005419.4(STAT2):c.1042G>A (p.Val348Met)6773STAT2Uncertain significance763090413RCV001920620; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567446655674466556744665-
NM_005419.4(STAT2):c.1038G>A (p.Leu346=)6773STAT2Likely benign-1RCV003076202; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674466956744669-
NM_005419.4(STAT2):c.1035-4C>T6773STAT2Likely benign751489313RCV001418418; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567446765674467612:g.56744676G>A-
NM_005419.4(STAT2):c.1035-5C>T6773STAT2Likely benign-1RCV003034296; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674467756744677NC_000012.11:g.56744677G>A-
NM_005419.4(STAT2):c.1035-6C>T6773STAT2Uncertain significance-1RCV002847729; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674467856744678NC_000012.11:g.56744678G>A-
NM_005419.4(STAT2):c.1035-16C>T6773STAT2Likely benign-1RCV002741839; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674468856744688NC_000012.11:g.56744688G>A-
NM_005419.4(STAT2):c.1034+10C>T6773STAT2Likely benign1475919038RCV002157541; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567448725674487256744872-
NM_005419.4(STAT2):c.1032A>G (p.Thr344=)6773STAT2Likely benign-1RCV003117040; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674488456744884-
NM_005419.4(STAT2):c.1032A>C (p.Thr344=)6773STAT2Likely benign-1RCV002922251; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674488456744884-
NM_005419.4(STAT2):c.1028G>A (p.Arg343Gln)6773STAT2Uncertain significance-1RCV003080989; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674488856744888NC_000012.11:g.56744888C>T-
NM_005419.4(STAT2):c.1024G>A (p.Val342Ile)6773STAT2Uncertain significance139440046RCV001913309; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567448925674489256744892-
NM_005419.4(STAT2):c.1023C>T (p.Thr341=)6773STAT2Likely benign-1RCV003051100; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674489356744893-
NM_005419.4(STAT2):c.989G>A (p.Arg330Gln)6773STAT2Uncertain significance149666262RCV000190677|RCV000791837; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674492756744927NC_000012.11:g.56744927C>TClinGen:CA214609C0950123 Inborn genetic diseases;
NM_005419.4(STAT2):c.986A>T (p.His329Leu)6773STAT2Uncertain significance-1RCV003032243; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674493056744930NC_000012.11:g.56744930T>A-
NM_005419.4(STAT2):c.975C>T (p.Pro325=)6773STAT2Likely benign562801991RCV002155464; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567449415674494156744941-
NM_005419.4(STAT2):c.970A>C (p.Met324Leu)6773STAT2Uncertain significance1259353788RCV001337235; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567449465674494656744946-
NM_005419.4(STAT2):c.944C>G (p.Ala315Gly)6773STAT2Uncertain significance774550841RCV002015702; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567449725674497256744972-
NM_005419.4(STAT2):c.942-8C>A6773STAT2Likely benign-1RCV002572143; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674498256744982NC_000012.11:g.56744982G>T-
NM_005419.4(STAT2):c.942-14C>G6773STAT2Likely benign111278603RCV002206555; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567449885674498856744988-
NM_005419.4(STAT2):c.929G>A (p.Arg310His)6773STAT2Uncertain significance374561860RCV001989408; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567450885674508856745088-
NM_005419.4(STAT2):c.904G>A (p.Ala302Thr)6773STAT2Uncertain significance141205552RCV001066159; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567451135674511312:g.56745113C>T-
NM_005419.4(STAT2):c.903C>T (p.Asn301=)6773STAT2Conflicting interpretations of pathogenicity145152331RCV000652753; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674511456745114NC_000012.11:g.56745114G>AClinGen:CA6630734C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.899G>A (p.Arg300His)6773STAT2Uncertain significance-1RCV003033686; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674511856745118NC_000012.11:g.56745118C>T-
NM_005419.4(STAT2):c.898C>T (p.Arg300Cys)6773STAT2Uncertain significance-1RCV002638169; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674511956745119NC_000012.11:g.56745119G>A-
NM_005419.4(STAT2):c.897A>T (p.Leu299=)6773STAT2Likely benign367900179RCV001439890; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567451205674512012:g.56745120T>A-
NM_005419.4(STAT2):c.883A>G (p.Lys295Glu)6773STAT2Uncertain significance-1RCV002810603; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674513456745134NC_000012.11:g.56745134T>C-
NM_005419.4(STAT2):c.874C>G (p.Pro292Ala)6773STAT2Uncertain significance754287605RCV001342850; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567451435674514356745143-
NM_005419.4(STAT2):c.830A>G (p.Lys277Arg)6773STAT2Uncertain significance910154908RCV002003661; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567451875674518756745187-
NM_005419.4(STAT2):c.820C>T (p.Gln274Ter)6773STAT2Pathogenic1878457865RCV001330058; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567451975674519756745197-
NM_005419.4(STAT2):c.816G>C (p.Leu272=)6773STAT2Likely benign1040911171RCV001480699; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567452015674520156745201-
NM_005419.4(STAT2):c.800A>G (p.Lys267Arg)6773STAT2Uncertain significance-1RCV003095719; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674521756745217NC_000012.11:g.56745217T>C-
NM_005419.4(STAT2):c.788C>T (p.Thr263Ile)6773STAT2Uncertain significance1878461729RCV001304261; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567452295674522956745229-
NM_005419.4(STAT2):c.783-17T>C6773STAT2Likely benign897923302RCV002101147; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567452515674525156745251-
NM_005419.4(STAT2):c.782+9T>C6773STAT2Likely benign1366805794RCV001483352; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567482415674824156748241-
NM_005419.4(STAT2):c.782+7G>C6773STAT2Likely benign200837081RCV002102581; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567482435674824356748243-
NM_005419.4(STAT2):c.782+3G>A6773STAT2Uncertain significance-1RCV003084267; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674824756748247NC_000012.11:g.56748247C>T-
NM_005419.4(STAT2):c.780A>G (p.Thr260=)6773STAT2Likely benign2136082939RCV002149878; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567482525674825256748252-
NM_005419.4(STAT2):c.772C>T (p.Leu258=)6773STAT2Likely benign749010133RCV000938496; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567482605674826012:g.56748260G>A-
NM_005419.4(STAT2):c.763T>C (p.Leu255=)6773STAT2Likely benign-1RCV002696024; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674826956748269-
NM_005419.4(STAT2):c.761G>A (p.Gly254Glu)6773STAT2Uncertain significance1482708314RCV001863907; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567482715674827156748271-
NM_005419.4(STAT2):c.760G>A (p.Gly254Arg)6773STAT2Uncertain significance774007338RCV002043911; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567482725674827256748272-
NM_005419.4(STAT2):c.759C>T (p.His253=)6773STAT2Benign/Likely benign147605088RCV000454686|RCV000652754|RCV001702660; NMedGen:CN169374|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MedGen:C366190012567482735674827312:g.56748273G>AClinGen:CA6630771C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.757C>G (p.His253Asp)6773STAT2Uncertain significance767067626RCV001999377; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567482755674827556748275-
NM_005419.4(STAT2):c.737G>C (p.Cys246Ser)6773STAT2Uncertain significance2228259RCV001059695; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567482955674829512:g.56748295C>G-
NM_005419.4(STAT2):c.728A>T (p.Gln243Leu)6773STAT2Uncertain significance-1RCV002843034; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674830456748304NC_000012.11:g.56748304T>A-
NM_005419.4(STAT2):c.724C>G (p.Gln242Glu)6773STAT2Uncertain significance758745819RCV001214005; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567483085674830812:g.56748308G>C-
NM_005419.4(STAT2):c.723G>A (p.Gln241=)6773STAT2Likely benign-1RCV003043635; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674830956748309-
NM_005419.4(STAT2):c.711G>C (p.Glu237Asp)6773STAT2Uncertain significance-1RCV002829498; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674832156748321NC_000012.11:g.56748321C>G-
NM_005419.4(STAT2):c.704T>C (p.Leu235Ser)6773STAT2Uncertain significance1324949275RCV001890206; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567483285674832856748328-
NM_005419.4(STAT2):c.694C>A (p.Leu232Met)6773STAT2Uncertain significance143159503RCV000818829; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567483385674833812:g.56748338G>T-
NM_005419.4(STAT2):c.685G>A (p.Glu229Lys)6773STAT2Uncertain significance200581403RCV001943161; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567483475674834756748347-
NM_005419.4(STAT2):c.679C>G (p.Leu227Val)6773STAT2Uncertain significance-1RCV003049030; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674835356748353NC_000012.11:g.56748353G>C-
NM_005419.4(STAT2):c.676dup (p.Thr226fs)6773STAT2Pathogenic2136083409RCV001864935; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567483555674835656748355-
NM_005419.4(STAT2):c.668G>A (p.Arg223Gln)6773STAT2Uncertain significance-1RCV002646841; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674836456748364NC_000012.11:g.56748364C>T-
NM_005419.4(STAT2):c.667C>T (p.Arg223Ter)6773STAT2Pathogenic1216776022RCV002035244; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567483655674836556748365-
NM_005419.4(STAT2):c.656C>T (p.Ala219Val)6773STAT2Uncertain significance1193099859RCV001932857; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567483765674837656748376-
NM_005419.4(STAT2):c.655G>A (p.Ala219Thr)6773STAT2Uncertain significance2136083569RCV001894576; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567483775674837756748377-
NM_005419.4(STAT2):c.651C>T (p.Ser217=)6773STAT2Likely benign143531890RCV002107473; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567483815674838156748381-
NM_005419.4(STAT2):c.642G>A (p.Leu214=)6773STAT2Likely benign373162091RCV002140428; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567483905674839056748390-
NM_005419.4(STAT2):c.634-3dup6773STAT2Uncertain significance781118479RCV001947865; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567484005674840156748400-
NM_005419.4(STAT2):c.634-16A>G6773STAT2Likely benign-1RCV002847421; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674841456748414NC_000012.11:g.56748414T>C-
NM_005419.4(STAT2):c.633+11G>A6773STAT2Likely benign777522947RCV002100960; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567485515674855156748551-
NM_005419.4(STAT2):c.633+8A>C6773STAT2Likely benign2136084384RCV002207621; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567485545674855456748554-
NM_005419.4(STAT2):c.633+7G>A6773STAT2Likely benign-1RCV002932459; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674855556748555NC_000012.11:g.56748555C>T-
NM_005419.4(STAT2):c.633+6A>C6773STAT2Uncertain significance1397725346RCV001294273; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567485565674855656748556-
NM_005419.4(STAT2):c.633G>A (p.Lys211=)6773STAT2Uncertain significance2136084436RCV001911093; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567485625674856256748562-
NM_005419.4(STAT2):c.597G>T (p.Leu199=)6773STAT2Likely benign-1RCV002862923; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674859856748598-
NM_005419.4(STAT2):c.591G>A (p.Lys197=)6773STAT2Likely benign-1RCV002572287; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674860456748604-
NM_005419.4(STAT2):c.574C>G (p.Gln192Glu)6773STAT2Uncertain significance1254058764RCV001910954; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567486215674862156748621-
NM_005419.4(STAT2):c.567C>A (p.Asp189Glu)6773STAT2Uncertain significance1879265080RCV001352223; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567486285674862856748628-
NM_005419.4(STAT2):c.556C>T (p.Pro186Ser)6773STAT2Uncertain significance-1RCV002571759; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674863956748639NC_000012.11:g.56748639G>A-
NM_005419.4(STAT2):c.548-10C>T6773STAT2Likely benign199708754RCV002066160; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567486575674865712:g.56748657G>A-
NM_005419.4(STAT2):c.548-15G>A6773STAT2Likely benign201328797RCV002184572; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567486625674866256748662-
NM_005419.4(STAT2):c.548-26GACT[3]6773STAT2Likely benign-1RCV002839226; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674866556748666NC_000012.11:g.56748666AGTC[3]-
NM_005419.4(STAT2):c.548-19T>C6773STAT2Likely benign2136084854RCV002076339; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567486665674866656748666-
NM_005419.4(STAT2):c.547+20G>A6773STAT2Likely benign-1RCV003013362; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674904056749040NC_000012.11:g.56749040C>T-
NM_005419.4(STAT2):c.547+14dup6773STAT2Likely benign2136086379RCV002169068; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567490455674904656749045-
NM_005419.4(STAT2):c.547+13T>C6773STAT2Likely benign-1RCV003083778; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674904756749047NC_000012.11:g.56749047A>G-
NM_005419.4(STAT2):c.542C>T (p.Ala181Val)6773STAT2Uncertain significance-1RCV003079358; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674906556749065NC_000012.11:g.56749065G>A-
NM_005419.4(STAT2):c.538C>G (p.Gln180Glu)6773STAT2Uncertain significance1592489044RCV000807124; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567490695674906912:g.56749069G>C-
NM_005419.4(STAT2):c.514G>A (p.Val172Ile)6773STAT2Uncertain significance-1RCV002640721; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674909356749093NC_000012.11:g.56749093C>T-
NM_005419.4(STAT2):c.510G>A (p.Gln170=)6773STAT2Likely benign1879335566RCV001444539; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567490975674909756749097-
NM_005419.4(STAT2):c.487A>G (p.Ile163Val)6773STAT2Uncertain significance-1RCV002889470; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674912056749120NC_000012.11:g.56749120T>C-
NM_005419.4(STAT2):c.472-8C>A6773STAT2Likely benign760728164RCV002220667; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567491435674914356749143-
NM_005419.4(STAT2):c.472-18G>T6773STAT2Likely benign55744449RCV002128388; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567491535674915356749153-
NM_005419.4(STAT2):c.472-18G>A6773STAT2Benign-1RCV002994094; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674915356749153NC_000012.11:g.56749153C>T-
NM_005419.4(STAT2):c.463A>G (p.Met155Val)6773STAT2Uncertain significance-1RCV002571638; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674923556749235NC_000012.11:g.56749235T>C-
NM_005419.4(STAT2):c.443G>A (p.Arg148Gln)6773STAT2Uncertain significance1879360038RCV001156646|RCV002032445; NMONDO:MONDO:0030044,MedGen:C5394391,OMIM:618886|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567492555674925512:g.56749255C>TOMIM:600556.0004
NM_005419.4(STAT2):c.434T>C (p.Ile145Thr)6773STAT2Uncertain significance-1RCV003068549; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674926456749264NC_000012.11:g.56749264A>G-
NM_005419.4(STAT2):c.429T>A (p.His143Gln)6773STAT2Uncertain significance372975661RCV001223533; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567492695674926912:g.56749269A>T-
NM_005419.4(STAT2):c.427C>A (p.His143Asn)6773STAT2Uncertain significance2136087270RCV002046686; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567492715674927156749271-
NM_005419.4(STAT2):c.418A>G (p.Ser140Gly)6773STAT2Uncertain significance758869093RCV001210593; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567492805674928012:g.56749280T>C-
NM_005419.4(STAT2):c.409C>G (p.Pro137Ala)6773STAT2Uncertain significance2136087361RCV001924295; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567492895674928956749289-
NM_005419.4(STAT2):c.403G>A (p.Glu135Lys)6773STAT2Uncertain significance753806117RCV001230385; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567492955674929512:g.56749295C>T-
NM_005419.4(STAT2):c.403G>T (p.Glu135Ter)6773STAT2Pathogenic-1RCV002616437; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674929556749295NC_000012.11:g.56749295C>A-
NM_005419.4(STAT2):c.402C>T (p.Leu134=)6773STAT2Likely benign148272090RCV001421136; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567492965674929656749296-
NM_005419.4(STAT2):c.400C>T (p.Leu134Phe)6773STAT2Uncertain significance1264238680RCV000537418; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567492985674929812:g.56749298G>AClinGen:CA385263403C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.382-9dup6773STAT2Conflicting interpretations of pathogenicity774277532RCV000514180|RCV002528234; NMedGen:CN517202|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567493195674932012:g.56749319_56749320insAClinGen:CA6630879CN517202 not provided;
NM_005419.4(STAT2):c.382-8T>G6773STAT2Uncertain significance-1RCV003029219; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674932456749324NC_000012.11:g.56749324A>C-
NM_005419.4(STAT2):c.382-10C>T6773STAT2Likely benign-1RCV003051101; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674932656749326NC_000012.11:g.56749326G>A-
NM_005419.4(STAT2):c.382-14G>A6773STAT2Likely benign775683524RCV001489122; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567493305674933056749330-
NM_005419.4(STAT2):c.381+5G>C6773STAT2Pathogenic281874770RCV000202375; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674948756749487NC_000012.11:g.56749487C>GClinGen:CA214658,OMIM:600556.0001C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.381+3G>A6773STAT2Uncertain significance1879403720RCV001318374; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567494895674948956749489-
NM_005419.4(STAT2):c.379T>C (p.Leu127=)6773STAT2Benign2066812RCV000527071; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567494945674949412:g.56749494A>GClinGen:CA6630893C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.378A>G (p.Gln126=)6773STAT2Likely benign112826194RCV000944146; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567494955674949512:g.56749495T>C-
NM_005419.4(STAT2):c.340G>A (p.Glu114Lys)6773STAT2Uncertain significance1592490011RCV001049114; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567495335674953312:g.56749533C>T-
NM_005419.4(STAT2):c.331C>T (p.Leu111Phe)6773STAT2Uncertain significance199890161RCV000698784; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567495425674954212:g.56749542G>A-C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.301C>T (p.Pro101Ser)6773STAT2Uncertain significance-1RCV002899611; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674957256749572NC_000012.11:g.56749572G>A-
NM_005419.4(STAT2):c.297G>C (p.Gln99His)6773STAT2Uncertain significance367793690RCV001233807; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567495765674957612:g.56749576C>G-
NM_005419.4(STAT2):c.293C>T (p.Ser98Phe)6773STAT2Uncertain significance1294214696RCV002006939; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567495805674958056749580-
NM_005419.4(STAT2):c.291T>C (p.Phe97=)6773STAT2Likely benign771953116RCV001438275; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567495825674958256749582-
NM_005419.4(STAT2):c.286-5T>C6773STAT2Likely benign111889584RCV000975308; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567495925674959212:g.56749592A>G-
NM_005419.4(STAT2):c.285+13G>A6773STAT2Likely benign376180998RCV002188029; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567499035674990356749903-
NM_005419.4(STAT2):c.285+11C>A6773STAT2Benign138679917RCV002119075; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567499055674990556749905-
NM_005419.4(STAT2):c.285+11C>T6773STAT2Likely benign-1RCV003081349; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674990556749905NC_000012.11:g.56749905G>A-
NM_005419.4(STAT2):c.285+5T>C6773STAT2Likely benign79264292RCV000652758|RCV001703227; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MedGen:C3661900125674991156749911NC_000012.11:g.56749911A>GClinGen:CA6630920C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.281T>C (p.Ile94Thr)6773STAT2Uncertain significance-1RCV003049157; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674992056749920NC_000012.11:g.56749920A>G-
NM_005419.4(STAT2):c.275G>A (p.Arg92Gln)6773STAT2Likely benign146096134RCV001366926; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567499265674992656749926-
NM_005419.4(STAT2):c.274C>T (p.Arg92Trp)6773STAT2Uncertain significance746815427RCV001257209; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567499275674992712:g.56749927G>A-
NM_005419.4(STAT2):c.270C>T (p.Phe90=)6773STAT2Likely benign1879479943RCV002195229; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567499315674993156749931-
NM_005419.4(STAT2):c.269T>C (p.Phe90Ser)6773STAT2Uncertain significance189335310RCV002009414; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567499325674993256749932-
NM_005419.4(STAT2):c.261G>C (p.Leu87Phe)6773STAT2Uncertain significance-1RCV002297535; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567499405674994056749940-
NM_005419.4(STAT2):c.256A>T (p.Asn86Tyr)6773STAT2Uncertain significance-1RCV002927561; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674994556749945NC_000012.11:g.56749945T>A-
NM_005419.4(STAT2):c.250C>A (p.Gln84Lys)6773STAT2Uncertain significance150901100RCV000788163|RCV000802910|RCV003117577; NMedGen:C3661900|MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|12567499515674995112:g.56749951G>T-
NM_005419.4(STAT2):c.235G>C (p.Glu79Gln)6773STAT2Uncertain significance-1RCV003104208; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674996656749966NC_000012.11:g.56749966C>G-
NM_005419.4(STAT2):c.218G>A (p.Arg73His)6773STAT2Uncertain significance-1RCV003084572; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674998356749983NC_000012.11:g.56749983C>T-
NM_005419.4(STAT2):c.217C>T (p.Arg73Cys)6773STAT2Uncertain significance-1RCV002582051; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125674998456749984NC_000012.11:g.56749984G>A-
NM_005419.4(STAT2):c.165G>A (p.Lys55=)6773STAT2Benign199622368RCV000544491; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567500365675003612:g.56750036C>TClinGen:CA6630935C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.144A>T (p.Ala48=)6773STAT2Likely benign748197364RCV002207033; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567500575675005756750057-
NM_005419.4(STAT2):c.135G>T (p.Gln45His)6773STAT2Uncertain significance1879498369RCV001247040; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567500665675006612:g.56750066C>A-
NM_005419.4(STAT2):c.132-7T>C6773STAT2Likely benign200338496RCV002192255; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567500765675007656750076-
NM_005419.4(STAT2):c.132-14T>C6773STAT2Likely benign-1RCV002761661; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125675008356750083NC_000012.11:g.56750083A>G-
NM_005419.4(STAT2):c.131+18T>C6773STAT2Likely benign-1RCV002970837; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125675020756750207NC_000012.11:g.56750207A>G-
NM_005419.4(STAT2):c.131+12A>G6773STAT2Likely benign377183152RCV002146992; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567502135675021356750213-
NM_005419.4(STAT2):c.131+1G>A6773STAT2Likely pathogenic-1RCV003033880; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125675022456750224NC_000012.11:g.56750224C>T-
NM_005419.4(STAT2):c.124C>A (p.Gln42Lys)6773STAT2Uncertain significance1258502384RCV001220034; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567502325675023212:g.56750232G>T-
NM_005419.4(STAT2):c.124C>T (p.Gln42Ter)6773STAT2Pathogenic1258502384RCV001993355; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567502325675023256750232-
NM_005419.4(STAT2):c.116T>C (p.Ile39Thr)6773STAT2Uncertain significance757152982RCV000545981; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125675024056750240NC_000012.11:g.56750240A>GClinGen:CA6630958C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.116T>G (p.Ile39Ser)6773STAT2Uncertain significance-1RCV002927633; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125675024056750240NC_000012.11:g.56750240A>C-
NM_005419.4(STAT2):c.109G>T (p.Val37Phe)6773STAT2Uncertain significance144812882RCV000690233; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125675024756750247NC_000012.11:g.56750247C>A-C4225260 616636 Immunodeficiency 44;
NM_005419.4(STAT2):c.109G>C (p.Val37Leu)6773STAT2Uncertain significance144812882RCV001986113; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567502475675024756750247-
NM_005419.4(STAT2):c.106G>A (p.Ala36Thr)6773STAT2Uncertain significance1879530120RCV001208734; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567502505675025012:g.56750250C>T-
NM_005419.4(STAT2):c.72C>T (p.His24=)6773STAT2Likely benign201190254RCV001405590; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567502845675028456750284-
NM_005419.4(STAT2):c.69G>A (p.Ser23=)6773STAT2Likely benign768335426RCV002086589; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567502875675028756750287-
NM_005419.4(STAT2):c.47A>G (p.Asp16Gly)6773STAT2Uncertain significance761370532RCV001070160; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567503095675030912:g.56750309T>C-
NM_005419.4(STAT2):c.34A>G (p.Ser12Gly)6773STAT2Uncertain significance1565660719RCV000768098|RCV002533935|RCV003224426; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0030044,MedGen:C5394391,OMIM:618886; MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125675032256750322NC_000012.11:g.56750322T>C-
NM_005419.4(STAT2):c.6G>A (p.Ala2=)6773STAT2Likely benign540438595RCV001459992; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:43116612567503505675035056750350-
NM_005419.4(STAT2):c.5C>T (p.Ala2Val)6773STAT2Uncertain significance-1RCV003005800; NMONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166125675035156750351NC_000012.11:g.56750351G>A-
MSeqDR Portal