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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Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive (C563311)

       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:11153
Name:Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
Definition:
Alternative IDs:OMIM:601457
ParentIDs:MESH:D007153
TreeNumbers:C20.673/C563311
Synonyms:SCID, T Cell-Negative, B Cell-Negative, NK Cell-Positive
Slim Mappings:Immune system disease
Reference: MedGen: C563311
MeSH: C563311
OMIM: 601457;
MSeqDR LSDB:  
Genes: RAG1; RAG2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001369Arthritis
3 HP:0010976B lymphocytopenia
4 HP:0000509Conjunctivitis
5 HP:0005403Decrease in T cell count
6 HP:0002014Diarrhea
7 HP:0001508Failure to thrive
8 HP:0008866Failure to thrive secondary to recurrent infections
9 HP:0000265Mastoiditis
10 HP:0001287Meningitis
11 HP:0000388Otitis media
12 HP:0003139Panhypogammaglobulinemia
13 HP:0002090Pneumonia
14 HP:0005390Recurrent opportunistic infections
15 HP:0004430Severe combined immunodeficiency
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000022.4(ADA):c.986C>T (p.Ala329Val)100ADAPathogenic/Likely pathogenicrs121908715RCV000002036|RCV000373062|RCV001194143; NMONDO:MONDO:0007064,MedGen:C0392607,OMIM:102700, Orphanet:277|MedGen:CN517202|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206204324903243249032GA20:g.43249032G>AUniProtKB/Swiss-Prot:VAR_002240,OMIM:608958.0006,ClinGen:CA252004,UniProtKB:P00813#VAR_002240,ClinVar:424762
NM_000215.4(JAK3):c.3257C>T (p.Pro1086Leu)3718JAK3Uncertain significancers777493612RCV000626254; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206191793767017937670GA19:g.17937670G>AClinGen:CA306119713
NM_000215.4(JAK3):c.3103del (p.Leu1035fs)3718JAK3Uncertain significancers1424732031RCV000626253; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206191794102117941021AGA19:g.17941021_17941021delClinGen:CA404764280
NM_000448.3(RAG1):c.-114G>A5896RAG1Uncertain significancers872052RCV000281963|RCV000376745; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113658957336589573GA11:g.36589573G>AClinGen:CA10638375
NM_000448.3(RAG1):c.-65A>G5896RAG1Benignrs872053RCV000336969|RCV000391350; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113658962236589622AG11:g.36589622A>GClinGen:CA10638384
NM_000448.3(RAG1):c.-15+12A>G5896RAG1Likely benignrs190968516RCV000297187|RCV000352232; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113658968436589684AG11:g.36589684A>GClinGen:CA10638391
NC_000011.10:g.(?_36573285)_(36598102_?)del5896RAG1Pathogenic-1RCV001031797; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659483536619652nana-1-
NM_000448.3(RAG1):c.-10C>T5896RAG1Uncertain significancers886048251RCV000312612|RCV000406270; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659484536594845CT11:g.36594845C>TClinGen:CA10634748
NM_000448.3(RAG1):c.1A>G (p.Met1Val)5896RAG1Uncertain significancers200575481RCV000272199|RCV001065533|RCV001753766|RCV001731582; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MedGen:CN517202|Human Phenotype Ontology:HP:0004430,MONDO:MOND113659485536594855AG11:g.36594855A>GClinGen:CA5949886
NM_000448.3(RAG1):c.15C>G (p.Phe5Leu)5896RAG1Uncertain significancers745600099RCV001246920; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659486936594869CG11:g.36594869C>G-
NM_000448.3(RAG1):c.37T>G (p.Ser13Ala)5896RAG1Conflicting interpretations of pathogenicityrs760746448RCV000308604|RCV000363341|RCV001059650; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:33120113659489136594891TG11:g.36594891T>GClinGen:CA5949891
NM_000448.3(RAG1):c.47A>G (p.Asp16Gly)5896RAG1Likely benign-1RCV001454193; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659490136594901AG36594901-
NM_000448.3(RAG1):c.60C>T (p.His20=)5896RAG1Likely benignrs138801620RCV000645693; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659491436594914CT11:g.36594914C>TClinGen:CA5949899
NM_000448.3(RAG1):c.63A>T (p.Pro21=)5896RAG1Likely benignrs757035017RCV000942000|RCV001421649; NMedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659491736594917AT11:g.36594917A>T-
NM_000448.3(RAG1):c.78A>G (p.Ser26=)5896RAG1Likely benignrs1590701535RCV000934891|RCV001427861; NMedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659493236594932AG11:g.36594932A>G-
NM_000448.3(RAG1):c.82T>C (p.Trp28Arg)5896RAG1Uncertain significancers1274599533RCV001046637; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659493636594936TC11:g.36594936T>C-
NM_000448.3(RAG1):c.94C>G (p.Leu32Val)5896RAG1Uncertain significancers149364682RCV000818000; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659494836594948CG11:g.36594948C>G-
NM_000448.3(RAG1):c.101G>A (p.Arg34Gln)5896RAG1Uncertain significancers377307948RCV000645682; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659495536594955GA11:g.36594955G>AClinGen:CA5949905
NM_000448.3(RAG1):c.117A>G (p.Glu39=)5896RAG1Likely benign-1RCV001481665; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659497136594971AG36594971-
NM_000448.3(RAG1):c.124C>T (p.Pro42Ser)5896RAG1Uncertain significancers1338238826RCV001304267; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659497836594978CT36594978-
NM_000448.3(RAG1):c.150G>A (p.Lys50=)5896RAG1Likely benignrs1590701604RCV000982600|RCV001407455; NMedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659500436595004GA11:g.36595004G>A-
NM_000448.3(RAG1):c.152A>T (p.Asp51Val)5896RAG1Uncertain significancers147486240RCV000269112|RCV000324217; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659500636595006AT11:g.36595006A>TClinGen:CA5949912
NM_000448.3(RAG1):c.156C>T (p.Ser52=)5896RAG1Likely benign-1RCV001473836; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659501036595010CT36595010-
NM_000448.3(RAG1):c.187C>G (p.Pro63Ala)5896RAG1Uncertain significancers1850780083RCV001103309|RCV001103310; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659504136595041CG11:g.36595041C>G-
NM_000448.3(RAG1):c.189A>G (p.Pro63=)5896RAG1Benign/Likely benignrs34357808RCV000030390|RCV000265458|RCV000378732|RCV000556328|RCV001642245; NHuman Phenotype Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110, Orphanet:183660|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0009306,MedGe113659504336595043AG11:g.36595043A>GClinGen:CA214194C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000448.3(RAG1):c.191C>T (p.Ala64Val)5896RAG1Uncertain significancers1564988004RCV000686139; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659504536595045CT11:g.36595045C>T-
NM_000448.3(RAG1):c.193G>T (p.Val65Phe)5896RAG1Uncertain significancers750032999RCV001341544; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659504736595047GT36595047-
NM_000448.3(RAG1):c.193G>A (p.Val65Ile)5896RAG1Uncertain significance-1RCV001363006; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659504736595047GA36595047-
NM_000448.3(RAG1):c.194T>C (p.Val65Ala)5896RAG1Uncertain significance-1RCV001359939; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659504836595048TC36595048-
NM_000448.3(RAG1):c.232C>G (p.Gln78Glu)5896RAG1Uncertain significancers759537311RCV000812323; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659508636595086CG11:g.36595086C>G-
NM_000448.3(RAG1):c.248C>T (p.Ala83Val)5896RAG1Uncertain significancers1590701723RCV000807306; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659510236595102CT11:g.36595102C>T-
NM_000448.3(RAG1):c.251A>G (p.His84Arg)5896RAG1Benignrs150199231RCV000423103|RCV000645695; NMedGen:CN169374|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659510536595105AG11:g.36595105A>GClinGen:CA5949933C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000448.3(RAG1):c.256_257del (p.Lys86fs)5896RAG1Pathogenicrs772962160RCV000282657|RCV000725574|RCV000779060; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MedGen:CN517202|113659511036595111TAAT11:g.36595110_36595111delClinGen:CA5949936C1832322 601457 Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive;
NM_000448.3(RAG1):c.258G>A (p.Lys86=)5896RAG1Likely benign-1RCV001436040; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659511236595112GA36595112-
NM_000448.3(RAG1):c.276C>T (p.His92=)5896RAG1Conflicting interpretations of pathogenicityrs550985019RCV000908455|RCV001103311|RCV001103312|RCV001468010; NMedGen:CN517202|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:60145113659513036595130CT11:g.36595130C>T-
NM_000448.3(RAG1):c.276C>A (p.His92Gln)5896RAG1Uncertain significancers550985019RCV001240630; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659513036595130CA11:g.36595130C>A-
NM_000448.3(RAG1):c.283G>A (p.Glu95Lys)5896RAG1Uncertain significancers1343229886RCV000824140; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659513736595137GA11:g.36595137G>A-
NM_000448.3(RAG1):c.295G>A (p.Gly99Ser)5896RAG1Likely benignrs138676205RCV000870894; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659514936595149GA11:g.36595149G>A-
NM_000448.3(RAG1):c.296G>A (p.Gly99Asp)5896RAG1Uncertain significancers533714087RCV001103313|RCV001103314; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659515036595150GA11:g.36595150G>A-
NM_000448.3(RAG1):c.303G>A (p.Ala101=)5896RAG1Benignrs4151025RCV000127708|RCV000320598|RCV000374530|RCV000557624|RCV001286067; NMedGen:CN169374|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:23365113659515736595157GA11:g.36595157G>AClinGen:CA293046
NM_000448.3(RAG1):c.308A>G (p.His103Arg)5896RAG1Uncertain significancers777049576RCV001241537; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659516236595162AG11:g.36595162A>G-
NM_000448.3(RAG1):c.310C>G (p.Gln104Glu)5896RAG1Uncertain significancers991160720RCV001297062; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659516436595164CG36595164-
NM_000448.3(RAG1):c.318C>A (p.Asn106Lys)5896RAG1Uncertain significance-1RCV001360905; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659517236595172CA36595172-
NM_000448.3(RAG1):c.319C>T (p.Leu107Phe)5896RAG1Uncertain significancers144019501RCV001058704; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659517336595173CT11:g.36595173C>T-
NM_000448.3(RAG1):c.319C>G (p.Leu107Val)5896RAG1Uncertain significance-1RCV001370109; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659517336595173CG36595173-
NM_000448.3(RAG1):c.322C>T (p.Arg108Ter)5896RAG1Pathogenic/Likely pathogenicrs193922464RCV000030393|RCV000397265|RCV000820376|RCV000778322|RCV001336880; NHuman Phenotype Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110, Orphanet:183660|MedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206||MONDO:M113659517636595176CT11:g.36595176C>TClinGen:CA214203C0085110 Severe combined immunodeficiency disease;
NM_000448.3(RAG1):c.323G>A (p.Arg108Gln)5896RAG1Uncertain significancers748211230RCV001244069; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659517736595177GA11:g.36595177G>A-
NM_000448.3(RAG1):c.335G>A (p.Arg112His)5896RAG1Conflicting interpretations of pathogenicityrs749223640RCV000489989|RCV000645684; NMedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659518936595189GA11:g.36595189G>AClinGen:CA5949966C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000448.3(RAG1):c.335G>T (p.Arg112Leu)5896RAG1Uncertain significancers749223640RCV001105217|RCV001105218; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659518936595189GT11:g.36595189G>T-
NM_000448.3(RAG1):c.337A>G (p.Ile113Val)5896RAG1Uncertain significance-1RCV001368459; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659519136595191AG36595191-
NM_000448.3(RAG1):c.354T>A (p.Phe118Leu)5896RAG1Uncertain significancers1850784411RCV001105219|RCV001105220; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659520836595208TA11:g.36595208T>A-
NM_000448.3(RAG1):c.362A>C (p.Asp121Ala)5896RAG1Uncertain significancers780167146RCV001061409; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659521636595216AC11:g.36595216A>C-
NM_000448.3(RAG1):c.382C>T (p.Pro128Ser)5896RAG1Uncertain significancers886048252RCV000279956|RCV000335126; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659523636595236CT11:g.36595236C>TClinGen:CA10638395
NM_000448.3(RAG1):c.386T>G (p.Val129Gly)5896RAG1Uncertain significancers1168709961RCV001234730; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659524036595240TG11:g.36595240T>G-
NM_000448.3(RAG1):c.394C>T (p.Pro132Ser)5896RAG1Uncertain significancers773742414RCV000812740; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659524836595248CT11:g.36595248C>T-
NM_000448.3(RAG1):c.399G>A (p.Val133=)5896RAG1Uncertain significancers1850785748RCV001233413; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659525336595253GA11:g.36595253G>A-
NM_000448.3(RAG1):c.424C>T (p.Arg142Ter)5896RAG1Pathogenicrs773929270RCV000768299|RCV000988528; NMONDO:MONDO:0012359,MedGen:C1835931,OMIM:609889, Orphanet:231154; MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:33120113659527836595278CT11:g.36595278C>T-
NM_000448.3(RAG1):c.425G>A (p.Arg142Gln)5896RAG1Uncertain significancers372110434RCV001106353|RCV001106352; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659527936595279GA11:g.36595279G>A-
NM_000448.3(RAG1):c.432G>T (p.Lys144Asn)5896RAG1Uncertain significancers144430517RCV000792032; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659528636595286GT11:g.36595286G>T-
NM_000448.3(RAG1):c.432G>A (p.Lys144=)5896RAG1Likely benignrs144430517RCV000980761; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659528636595286GA11:g.36595286G>A-
NM_000448.3(RAG1):c.455C>T (p.Pro152Leu)5896RAG1Uncertain significancers763843831RCV001325278; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659530936595309CT36595309-
NM_000448.3(RAG1):c.456G>A (p.Pro152=)5896RAG1Uncertain significancers368797111RCV001037173; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659531036595310GA11:g.36595310G>A-
NM_000448.3(RAG1):c.470A>G (p.Lys157Arg)5896RAG1Uncertain significancers1258478128RCV001218779; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659532436595324AG11:g.36595324A>G-
NM_000448.3(RAG1):c.471G>T (p.Lys157Asn)5896RAG1Uncertain significancers751582511RCV001238378; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659532536595325GT11:g.36595325G>T-
NM_000448.3(RAG1):c.486T>A (p.Asp162Glu)5896RAG1Conflicting interpretations of pathogenicityrs753042511RCV001106354|RCV001106355|RCV001448444; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:15794113659534036595340TA11:g.36595340T>A-
NM_000448.3(RAG1):c.486T>C (p.Asp162=)5896RAG1Likely benign-1RCV001461057; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659534036595340TC36595340-
NM_000448.3(RAG1):c.495A>C (p.Ala165=)5896RAG1Likely benign-1RCV001407675; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659534936595349AC36595349-
NM_000448.3(RAG1):c.506C>T (p.Ser169Leu)5896RAG1Uncertain significancers4151027RCV001246178; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659536036595360CT11:g.36595360C>T-
NM_000448.3(RAG1):c.517A>T (p.Thr173Ser)5896RAG1Uncertain significancers1424812134RCV000821505; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659537136595371AT11:g.36595371A>T-
NM_000448.3(RAG1):c.527G>T (p.Cys176Phe)5896RAG1Conflicting interpretations of pathogenicityrs149229197RCV000413643|RCV000792591; NMedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659538136595381GT11:g.36595381G>TClinGen:CA5950000CN517202 not provided;
NM_000448.3(RAG1):c.549G>A (p.Met183Ile)5896RAG1Uncertain significancers750394886RCV000768064; NMONDO:MONDO:0012359,MedGen:C1835931,OMIM:609889, Orphanet:231154; MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:33120113659540336595403GA11:g.36595403G>A-
NM_000448.3(RAG1):c.575G>A (p.Cys192Tyr)5896RAG1Likely benign-1RCV001484684; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659542936595429GA36595429-
NM_000448.3(RAG1):c.577G>A (p.Glu193Lys)5896RAG1Benignrs34841221RCV000295079|RCV000389615|RCV000645692|RCV000780681; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:33120113659543136595431GA11:g.36595431G>AClinGen:CA5950009
NM_000448.3(RAG1):c.591G>A (p.Pro197=)5896RAG1Likely benign-1RCV001461076; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659544536595445GA36595445-
NM_000448.3(RAG1):c.592A>C (p.Arg198=)5896RAG1Uncertain significancers746425890RCV000350023|RCV000406889; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659544636595446AC11:g.36595446A>CClinGen:CA5950014
NM_000448.3(RAG1):c.597C>T (p.Asn199=)5896RAG1Uncertain significancers148288583RCV001108565|RCV001108564; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659545136595451CT11:g.36595451C>T-
NM_000448.3(RAG1):c.625C>A (p.Pro209Thr)5896RAG1Uncertain significancers867348931RCV001205767; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659547936595479CA11:g.36595479C>A-
NM_000448.3(RAG1):c.633T>C (p.Cys211=)5896RAG1Likely benign-1RCV001462930; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659548736595487TC36595487-
NM_000448.3(RAG1):c.648T>A (p.Thr216=)5896RAG1Uncertain significancers762860350RCV001244018; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659550236595502TA11:g.36595502T>A-
NM_000448.3(RAG1):c.653G>A (p.Arg218His)5896RAG1Uncertain significancers202178215RCV000291741|RCV000346886|RCV001320109; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:33120113659550736595507GA11:g.36595507G>AClinGen:CA5950026
NM_000448.3(RAG1):c.655C>T (p.Arg219Trp)5896RAG1Uncertain significance-1RCV001363755; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659550936595509CT36595509-
NM_000448.3(RAG1):c.656G>A (p.Arg219Gln)5896RAG1Uncertain significancers764179803RCV001043434; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659551036595510GA11:g.36595510G>A-
NM_000448.3(RAG1):c.656G>T (p.Arg219Leu)5896RAG1Uncertain significancers764179803RCV001041651; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659551036595510GT11:g.36595510G>T-
NM_000448.3(RAG1):c.680A>T (p.Gln227Leu)5896RAG1Uncertain significancers757672759RCV001317499; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659553436595534AT36595534-
NM_000448.3(RAG1):c.725A>G (p.Gln242Arg)5896RAG1Conflicting interpretations of pathogenicityrs76897604RCV000645698|RCV001108566|RCV001108567|RCV001546604; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:3904113659557936595579AG11:g.36595579A>GClinGen:CA5950037
NM_000448.3(RAG1):c.739C>T (p.Arg247Cys)5896RAG1Uncertain significancers147203889RCV000307123|RCV000406884|RCV001043774; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:33120113659559336595593CT11:g.36595593C>TClinGen:CA5950040
NM_000448.3(RAG1):c.740G>A (p.Arg247His)5896RAG1Uncertain significancers4151029RCV001231347; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659559436595594GA11:g.36595594G>A-
NM_000448.3(RAG1):c.746= (p.His249=)5896RAG1Benignrs3740955RCV000127709|RCV000536425; NMedGen:CN169374|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659560036595600AA11:g.36595600A>.ClinGen:CA293049C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000448.3(RAG1):c.746A>G (p.His249Arg)5896RAG1Benignrs3740955RCV000455724|RCV001512871|RCV001702659|RCV001796051|RCV001796053|RCV001796052; NMedGen:CN169374|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MedGen:CN517202|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C18113659560036595600AG11:g.36595600A>GClinGen:CA5950043
NM_000448.3(RAG1):c.791AGA[1] (p.Lys265del)5896RAG1Uncertain significancers766378998RCV001240968; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659564336595645TGAAT11:g.36595643_36595645del-
NM_000448.3(RAG1):c.799G>A (p.Ala267Thr)5896RAG1Uncertain significancers148393376RCV000361863|RCV000404463|RCV001203120; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:33120113659565336595653GA11:g.36595653G>AClinGen:CA5950056
NM_000448.3(RAG1):c.800C>G (p.Ala267Gly)5896RAG1Uncertain significancers1002699516RCV001038681; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659565436595654CG11:g.36595654C>G-
NM_000448.3(RAG1):c.824G>A (p.Ser275Asn)5896RAG1Uncertain significancers368607209RCV001050691; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659567836595678GA11:g.36595678G>A-
NM_000448.3(RAG1):c.830A>G (p.Lys277Arg)5896RAG1Uncertain significancers1027087402RCV000546508; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659568436595684AG11:g.36595684A>GClinGen:CA220600571C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000448.3(RAG1):c.831G>A (p.Lys277=)5896RAG1Uncertain significancers1376996089RCV001103396|RCV001103397; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659568536595685GA11:g.36595685G>A-
NM_000448.3(RAG1):c.850C>T (p.Pro284Ser)5896RAG1Uncertain significance-1RCV001366728|RCV001508314; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MedGen:CN517202113659570436595704CT36595704-
NM_000448.3(RAG1):c.851C>T (p.Pro284Leu)5896RAG1Uncertain significancers1554944775RCV000556779; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659570536595705CT11:g.36595705C>TClinGen:CA380150115C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000448.3(RAG1):c.875C>G (p.Ser292Cys)5896RAG1Uncertain significancers1225342881RCV001298396; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659572936595729CG36595729-
NM_000448.3(RAG1):c.906C>A (p.Asp302Glu)5896RAG1Benignrs4151030RCV000030394|RCV000127710|RCV000224203|RCV000303729|RCV000358641|RCV001084268|RCV001286332; NHuman Phenotype Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110, Orphanet:183660|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:113659576036595760CA11:g.36595760C>AClinGen:CA214206,UniProtKB:P15918#VAR_020113C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000448.3(RAG1):c.917C>T (p.Thr306Ile)5896RAG1Uncertain significancers145962212RCV001235564; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659577136595771CT11:g.36595771C>T-
NM_000448.3(RAG1):c.954C>T (p.Leu318=)5896RAG1Likely benign-1RCV001492151; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659580836595808CT36595808-
NM_000448.3(RAG1):c.983G>A (p.Cys328Tyr)5896RAG1Pathogenicrs121918571RCV000014046|RCV000820844; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659583736595837GA11:g.36595837G>AClinGen:CA122922,UniProtKB:P15918#VAR_025971,OMIM:179615.0022C1801959 603554 Histiocytic medullary reticulosis;
NM_000448.3(RAG1):c.987del (p.Ser330fs)5896RAG1Pathogenicrs1564988767RCV000766114; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659583936595839TCT11:g.36595839_36595839delClinVar:624577
NM_000448.3(RAG1):c.994C>T (p.Arg332Ter)5896RAG1Pathogenicrs568867325RCV000804696; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659584836595848CT11:g.36595848C>T-
NM_000448.3(RAG1):c.995G>A (p.Arg332Gln)5896RAG1Uncertain significancers762022709RCV001267785|RCV001300414; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659584936595849GA11:g.36595849G>A-
NM_000448.3(RAG1):c.996A>T (p.Arg332=)5896RAG1Likely benign-1RCV001464196; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659585036595850AT36595850-
NM_000448.3(RAG1):c.997T>C (p.Tyr333His)5896RAG1Uncertain significancers1041695603RCV000798507; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659585136595851TC11:g.36595851T>C-
NM_000448.3(RAG1):c.1012A>C (p.Thr338Pro)5896RAG1Uncertain significancers773326832RCV000800766; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659586636595866AC11:g.36595866A>C-
NM_000448.3(RAG1):c.1020G>A (p.Leu340=)5896RAG1Uncertain significancers766653036RCV001217279; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659587436595874GA11:g.36595874G>A-
NM_000448.3(RAG1):c.1032G>A (p.Val344=)5896RAG1Likely benign-1RCV001491102; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659588636595886GA36595886-
NM_000448.3(RAG1):c.1048G>A (p.Val350Ile)5896RAG1Uncertain significancers200758244RCV001047692|RCV001105307|RCV001105306; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:3904113659590236595902GA11:g.36595902G>A-
NM_000448.3(RAG1):c.1048G>C (p.Val350Leu)5896RAG1Uncertain significancers200758244RCV001313443; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659590236595902GC36595902-
NM_000448.3(RAG1):c.1060C>A (p.Leu354Met)5896RAG1Uncertain significancers753165042RCV000552443|RCV001105308|RCV001105309; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:3904113659591436595914CA11:g.36595914C>AClinGen:CA5950091C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000448.3(RAG1):c.1064T>C (p.Met355Thr)5896RAG1Conflicting interpretations of pathogenicityrs151077440RCV000707727|RCV000763737|RCV001105310|RCV001105311; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MONDO:MONDO:0012359,MedGen:C1835931,OMIM:609889, Orphanet:231154; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:3312113659591836595918TC11:g.36595918T>C-C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000448.3(RAG1):c.1077A>G (p.Pro359=)5896RAG1Uncertain significancers886048253RCV000263887|RCV000317955; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659593136595931AG11:g.36595931A>GClinGen:CA10638987
NM_000448.3(RAG1):c.1088G>A (p.Cys363Tyr)5896RAG1Uncertain significancers1461508819RCV001205082; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659594236595942GA11:g.36595942G>A-
NM_000448.3(RAG1):c.1114T>C (p.Tyr372His)5896RAG1Uncertain significancers1850803486RCV001052504; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659596836595968TC11:g.36595968T>C-
NM_000448.3(RAG1):c.1147A>G (p.Lys383Glu)5896RAG1Uncertain significancers1850804605RCV001294841; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659600136596001AG36596001-
NM_000448.3(RAG1):c.1154T>C (p.Ile385Thr)5896RAG1Likely benignrs141049427RCV000812563; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659600836596008TC11:g.36596008T>C-
NM_000448.3(RAG1):c.1160T>C (p.Val387Ala)5896RAG1Uncertain significancers771237578RCV001226092; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659601436596014TC11:g.36596014T>C-
NM_000448.3(RAG1):c.1178G>T (p.Gly393Val)5896RAG1Conflicting interpretations of pathogenicityrs1554944856RCV000519147|RCV001050135|RCV001731748; NMedGen:CN517202|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MedGen:CN169374113659603236596032GT11:g.36596032G>TClinGen:CA380151728CN517202 not provided;
NM_000448.3(RAG1):c.1180C>T (p.Arg394Trp)5896RAG1Pathogenicrs1590702874RCV000817355|RCV001575075; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MedGen:CN517202113659603436596034CT11:g.36596034C>T-
NM_000448.3(RAG1):c.1181G>A (p.Arg394Gln)5896RAG1Pathogenicrs1850805503RCV001070571; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659603536596035GA11:g.36596035G>A-
NM_000448.3(RAG1):c.1187G>A (p.Arg396His)5896RAG1Pathogenicrs104894291RCV000014028|RCV000688686; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659604136596041GA11:g.36596041G>AClinGen:CA122895,UniProtKB:P15918#VAR_008887,OMIM:179615.0008C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000448.3(RAG1):c.1202C>T (p.Ser401Leu)5896RAG1Uncertain significancers1385203770RCV000703227; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659605636596056CT11:g.36596056C>T-
NM_000448.3(RAG1):c.1207A>T (p.Thr403Ser)5896RAG1Uncertain significancers202189218RCV001071923|RCV001106441|RCV001106442; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:3904113659606136596061AT11:g.36596061A>T-
NM_000448.3(RAG1):c.1210C>T (p.Arg404Trp)5896RAG1Pathogenic/Likely pathogenicrs764981110RCV000788766|RCV000817183; NMedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659606436596064CT11:g.36596064C>T-
NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln)5896RAG1Pathogenic-1RCV001385111|RCV001579945; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MedGen:CN517202113659606536596065GA36596065-
NM_000448.3(RAG1):c.1219C>G (p.Gln407Glu)5896RAG1Likely pathogenicrs986694616RCV001267787; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659607336596073CG11:g.36596073C>G-
NM_000448.3(RAG1):c.1228C>T (p.Arg410Trp)5896RAG1Pathogenicrs758288006RCV001065315; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659608236596082CT11:g.36596082C>T-
NM_000448.3(RAG1):c.1232T>C (p.Leu411Pro)5896RAG1Likely pathogenicrs1554944877RCV000526312; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659608636596086TC11:g.36596086T>CClinGen:CA380152001
NM_000448.3(RAG1):c.1246C>T (p.Leu416=)5896RAG1Likely benign-1RCV001400294; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659610036596100CT36596100-
NM_000448.3(RAG1):c.1256A>G (p.Lys419Arg)5896RAG1Uncertain significancers780974569RCV000795280; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659611036596110AG11:g.36596110A>G-
NM_000448.3(RAG1):c.1260C>T (p.Ala420=)5896RAG1Likely benign-1RCV001493285; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659611436596114CT36596114-
NM_000448.3(RAG1):c.1264G>T (p.Ala422Ser)5896RAG1Uncertain significancers568838996RCV001335329|RCV001338242; NMONDO:MONDO:0012359,MedGen:C1835931,OMIM:609889, Orphanet:231154|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659611836596118GT36596118-
NM_000448.3(RAG1):c.1296C>T (p.Ser432=)5896RAG1Likely benign-1RCV001443689; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659615036596150CT36596150-
NM_000448.3(RAG1):c.1321G>T (p.Ala441Ser)5896RAG1Uncertain significancers1850809055RCV001319553; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659617536596175GT36596175-
NM_000448.3(RAG1):c.1331C>T (p.Ala444Val)5896RAG1Pathogenicrs199474685RCV000059562|RCV000559478|RCV001390074; NMedGen:CN517202|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659618536596185CT11:g.36596185C>TUniProtKB/Swiss-Prot:VAR_025977,ClinGen:CA219800,UniProtKB:P15918#VAR_025977CN517202 not provided;
NM_000448.3(RAG1):c.1346G>A (p.Arg449Lys)5896RAG1Conflicting interpretations of pathogenicityrs4151031RCV000253706|RCV000541489|RCV001106443|RCV001106444|RCV001285432|RCV001711652; NMedGen:CN169374|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:60145113659620036596200GA11:g.36596200G>AClinGen:CA5950130,UniProtKB:P15918#VAR_029262C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000448.3(RAG1):c.1361T>A (p.Leu454Gln)5896RAG1Uncertain significancers199474677RCV000059563|RCV000819860; NMedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659621536596215TA11:g.36596215T>AClinGen:CA219803,UniProtKB:P15918#VAR_067274,UniProtKB/Swiss-Prot:VAR_067274CN517202 not provided;
NM_000448.3(RAG1):c.1367C>A (p.Ala456Asp)5896RAG1Conflicting interpretations of pathogenicityrs201779957RCV000260296|RCV000354119|RCV001445356; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:33120113659622136596221CA11:g.36596221C>AClinGen:CA5950132
NM_000448.3(RAG1):c.1420C>T (p.Arg474Cys)5896RAG1Pathogenicrs199474678RCV000059564|RCV001235005; NMedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659627436596274CT11:g.36596274C>TClinGen:CA219806,UniProtKB:P15918#VAR_067275,UniProtKB/Swiss-Prot:VAR_067275CN517202 not provided;
NM_000448.3(RAG1):c.1421G>A (p.Arg474His)5896RAG1Pathogenicrs199474686RCV000059565|RCV000791763|RCV001731478; NMedGen:CN517202|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|Human Phenotype Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110, Orphanet:183660113659627536596275GA11:g.36596275G>AClinGen:CA219809,UniProtKB:P15918#VAR_025978,UniProtKB/Swiss-Prot:VAR_025978CN517202 not provided;
NM_000448.3(RAG1):c.1440C>T (p.Ser480=)5896RAG1Likely benign-1RCV001415455; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659629436596294CT36596294-
NM_000448.3(RAG1):c.1460T>G (p.Met487Arg)5896RAG1Pathogenic-1RCV001449974; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659631436596314TG36596314-
NM_000448.3(RAG1):c.1467G>C (p.Arg489Ser)5896RAG1Uncertain significancers1270133689RCV000761770|RCV001039344; NMedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659632136596321GC11:g.36596321G>C-
NM_000448.3(RAG1):c.1468A>G (p.Thr490Ala)5896RAG1Uncertain significancers1590703120RCV000820451; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659632236596322AG11:g.36596322A>G-
NM_000448.3(RAG1):c.1494G>C (p.Gln498His)5896RAG1Uncertain significancers1850813830RCV001212946; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659634836596348GC11:g.36596348G>C-
NM_000448.3(RAG1):c.1520G>A (p.Arg507Gln)5896RAG1Uncertain significancers143969029RCV001267786; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659637436596374GA11:g.36596374G>A-
NM_000448.3(RAG1):c.1528G>T (p.Glu510Ter)5896RAG1Pathogenic-1RCV001530177; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659638236596382GT36596382-
NM_000448.3(RAG1):c.1557C>G (p.His519Gln)5896RAG1Uncertain significance-1RCV001369250; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659641136596411CG36596411-
NM_000448.3(RAG1):c.1559T>C (p.Phe520Ser)5896RAG1Uncertain significancers1490273597RCV000795118; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659641336596413TC11:g.36596413T>C-
NM_000448.3(RAG1):c.1560T>G (p.Phe520Leu)5896RAG1Uncertain significancers61758790RCV001063418; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659641436596414TG11:g.36596414T>G-
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys)5896RAG1Pathogenicrs193922461RCV000022745|RCV000519696|RCV000696949; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659642036596420GT11:g.36596420G>TClinGen:CA213430,UniProtKB:P15918#VAR_025980,OMIM:179615.0024C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000448.3(RAG1):c.1573C>T (p.Pro525Ser)5896RAG1Benignrs4151032RCV000967725; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659642736596427CT11:g.36596427C>T-
NM_000448.3(RAG1):c.1578G>A (p.Leu526=)5896RAG1Benignrs143289774RCV000864725; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659643236596432GA11:g.36596432G>A-
NM_000448.3(RAG1):c.1630C>A (p.Leu544Ile)5896RAG1Uncertain significancers773829381RCV001228514; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659648436596484CA11:g.36596484C>A-
NM_000448.3(RAG1):c.1632A>G (p.Leu544=)5896RAG1Likely benignrs762586430RCV000928790; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659648636596486AG11:g.36596486A>G-
NM_000448.3(RAG1):c.1637C>T (p.Ser546Phe)5896RAG1Uncertain significancers148235228RCV001049141; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659649136596491CT11:g.36596491C>T-
NM_000448.3(RAG1):c.1638C>T (p.Ser546=)5896RAG1Likely benign-1RCV001429311; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659649236596492CT36596492-
NM_000448.3(RAG1):c.1661A>G (p.Asp554Gly)5896RAG1Uncertain significancers1850817619RCV001037346; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659651536596515AG11:g.36596515A>G-
NM_000448.3(RAG1):c.1661A>T (p.Asp554Val)5896RAG1Uncertain significance-1RCV001372238; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659651536596515AT36596515-
NM_000448.3(RAG1):c.1665C>T (p.Thr555=)5896RAG1Likely benignrs141265699RCV000934091|RCV001459581; NMedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659651936596519CT11:g.36596519C>T-
NM_000448.3(RAG1):c.1674G>C (p.Lys558Asn)5896RAG1Uncertain significancers150790148RCV001067050|RCV001108645|RCV001108646; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:33120113659652836596528GC11:g.36596528G>C-
NM_000448.3(RAG1):c.1677G>T (p.Arg559Ser)5896RAG1Pathogenicrs199474681RCV000059566|RCV001594380; NMedGen:CN517202|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659653136596531GT11:g.36596531G>TClinGen:CA219812,UniProtKB:P15918#VAR_025981,UniProtKB/Swiss-Prot:VAR_025981CN517202 not provided;
NM_000448.3(RAG1):c.1681C>T (p.Arg561Cys)5896RAG1Pathogenicrs104894285RCV000014031|RCV000014030|RCV000537788|RCV001091951|RCV001386663; NMedGen:C1867362|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MedGen:CN517202|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C26113659653536596535CT11:g.36596535C>TClinGen:CA122901,UniProtKB:P15918#VAR_008890,OMIM:179615.0010,ClinVar:624575C1801959 603554 Histiocytic medullary reticulosis;
NM_000448.3(RAG1):c.1682G>A (p.Arg561His)5896RAG1Pathogenicrs104894284RCV000014025|RCV001332464|RCV001384043|RCV001781262; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:15794113659653636596536GA11:g.36596536G>AClinGen:CA122886,UniProtKB:P15918#VAR_008889,OMIM:179615.0005C1801959 603554 Histiocytic medullary reticulosis;
NM_000448.3(RAG1):c.1727A>T (p.Asp576Val)5896RAG1Uncertain significancers142333735RCV001343374; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659658136596581AT36596581-
NM_000448.3(RAG1):c.1742T>C (p.Met581Thr)5896RAG1Uncertain significancers1317842420RCV000645683; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659659636596596TC11:g.36596596T>CClinGen:CA380153193
NM_000448.3(RAG1):c.1761T>G (p.Asp587Glu)5896RAG1Uncertain significancers1554944973RCV000645686; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659661536596615TG11:g.36596615T>GClinGen:CA380153236
NM_000448.3(RAG1):c.1770G>T (p.Leu590=)5896RAG1Uncertain significancers1850820804RCV001108648|RCV001108647; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659662436596624GT11:g.36596624G>T-
NM_000448.3(RAG1):c.1786G>A (p.Val596Met)5896RAG1Uncertain significancers1850820995RCV001108649|RCV001108650; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659664036596640GA11:g.36596640G>A-
NM_000448.3(RAG1):c.1798del (p.Glu600fs)5896RAG1Pathogenic-1RCV001389760; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659665136596651AGA36596650-
NM_000448.3(RAG1):c.1801T>G (p.Ser601Ala)5896RAG1Uncertain significancers145951370RCV001221930; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659665536596655TG11:g.36596655T>G-
NM_000448.3(RAG1):c.1809T>C (p.Asp603=)5896RAG1Likely benign-1RCV001470104; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659666336596663TC36596663-
NM_000448.3(RAG1):c.1821C>T (p.Asp607=)5896RAG1Likely benignrs183806098RCV000939004; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659667536596675CT11:g.36596675C>T-
NM_000448.3(RAG1):c.1822G>A (p.Val608Met)5896RAG1Uncertain significancers761671439RCV001343162; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659667636596676GA36596676-
NM_000448.3(RAG1):c.1825A>G (p.Ser609Gly)5896RAG1Uncertain significancers1460488211RCV001307394; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659667936596679AG36596679-
NM_000448.3(RAG1):c.1835A>G (p.His612Arg)5896RAG1Uncertain significancers1850821995RCV001042812; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659668936596689AG11:g.36596689A>G-
NM_000448.3(RAG1):c.1864G>A (p.Ala622Thr)5896RAG1Uncertain significancers148380512RCV001050532; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659671836596718GA11:g.36596718G>A-
NM_000448.3(RAG1):c.1871G>A (p.Arg624His)5896RAG1Pathogenicrs199474680RCV000059568|RCV001381393; NMedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659672536596725GA11:g.36596725G>AClinVar:624578,ClinVar:624579,ClinGen:CA219818,UniProtKB:P15918#VAR_007803,UniProtKB/Swiss-Prot:VAR_007803CN517202 not provided;
NM_000448.3(RAG1):c.1903G>T (p.Ala635Ser)5896RAG1Uncertain significancers1322150766RCV001352006; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659675736596757GT36596757-
NM_000448.3(RAG1):c.1907A>G (p.His636Arg)5896RAG1Uncertain significancers909682682RCV001071960; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659676136596761AG11:g.36596761A>G-
NM_000448.3(RAG1):c.1947del (p.Asn650fs)5896RAG1Pathogenic-1RCV001381394; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659680136596801CTC36596800-
NM_000448.3(RAG1):c.1981_1983del (p.Met661del)5896RAG1Uncertain significancers774103837RCV001234668; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659683536596837TATGT11:g.36596835_36596837del-
NM_000448.3(RAG1):c.2004C>T (p.His668=)5896RAG1Likely benignrs1367781663RCV000966485|RCV001439891; NMedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659685836596858CT11:g.36596858C>T-
NM_000448.3(RAG1):c.2009C>T (p.Thr670Met)5896RAG1Uncertain significancers139863630RCV001066664; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659686336596863CT11:g.36596863C>T-
NM_000448.3(RAG1):c.2035A>G (p.Ile679Val)5896RAG1Uncertain significancers143227621RCV001035782; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659688936596889AG11:g.36596889A>G-
NM_000448.3(RAG1):c.2060G>A (p.Ser687Asn)5896RAG1Uncertain significancers767579422RCV000800919; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659691436596914GA11:g.36596914G>A-
NM_000448.3(RAG1):c.2082G>A (p.Leu694=)5896RAG1Likely benign-1RCV001401708; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659693636596936GA36596936-
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp)5896RAG1Conflicting interpretations of pathogenicityrs199474676RCV000059570|RCV000548870|RCV001293030|RCV001729376; NMedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:6035113659694936596949CT11:g.36596949C>TClinGen:CA219824,UniProtKB:P15918#VAR_067276,UniProtKB/Swiss-Prot:VAR_067276CN517202 not provided;
NM_000448.3(RAG1):c.2110A>G (p.Ile704Val)5896RAG1Uncertain significancers886048254RCV000334174|RCV000388629; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659696436596964AG11:g.36596964A>GClinGen:CA10638989
NM_000448.3(RAG1):c.2124C>T (p.Thr708=)5896RAG1Likely benign-1RCV001394152; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659697836596978CT36596978-
NM_000448.3(RAG1):c.2126G>C (p.Gly709Ala)5896RAG1Uncertain significancers1850829046RCV001050136; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659698036596980GC11:g.36596980G>C-
NM_000448.3(RAG1):c.2140C>T (p.Leu714Phe)5896RAG1Uncertain significancers1590703656RCV000808659; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659699436596994CT11:g.36596994C>T-
NM_000448.3(RAG1):c.2181C>G (p.Val727=)5896RAG1Likely benign-1RCV001436871; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659703536597035CG36597035-
NM_000448.3(RAG1):c.2204C>T (p.Ala735Val)5896RAG1Uncertain significancers922541917RCV000809722; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659705836597058CT11:g.36597058C>T-
NM_000448.3(RAG1):c.2210G>A (p.Arg737His)5896RAG1Pathogenic/Likely pathogenicrs104894286RCV000014032|RCV001027614|RCV001091955|RCV001389160; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MeSH:D000081207,MedGen:C5197805|MedGen:CN517202|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659706436597064GA11:g.36597064G>AClinGen:CA122904,UniProtKB:P15918#VAR_008891,OMIM:179615.0011,OMIM:179615.0019,ClinVar:13157C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000448.3(RAG1):c.2219C>G (p.Ala740Gly)5896RAG1Uncertain significancers762107952RCV001317633; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659707336597073CG36597073-
NM_000448.3(RAG1):c.2237T>G (p.Phe746Cys)5896RAG1Uncertain significancers377252087RCV001344708; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659709136597091TG36597091-
NM_000448.3(RAG1):c.2248A>T (p.Thr750Ser)5896RAG1Uncertain significancers1850832170RCV001222037; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659710236597102AT11:g.36597102A>T-
NM_000448.3(RAG1):c.2258A>T (p.His753Leu)5896RAG1Uncertain significancers199474687RCV000059571|RCV000687602; NMedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659711236597112AT11:g.36597112A>TClinGen:CA219827,UniProtKB:P15918#VAR_025984,UniProtKB/Swiss-Prot:VAR_025984C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000448.3(RAG1):c.2275C>T (p.Arg759Cys)5896RAG1Likely pathogenicrs749027430RCV001065314; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659712936597129CT11:g.36597129C>T-
NM_000448.3(RAG1):c.2325G>A (p.Leu775=)5896RAG1Likely benign-1RCV001439284; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659717936597179GA36597179-
NM_000448.3(RAG1):c.2326C>T (p.Arg776Trp)5896RAG1Likely pathogenicrs121918572RCV000014047|RCV000801211; NMedGen:C1867362|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659718036597180CT11:g.36597180C>TClinGen:CA122925,OMIM:179615.0023C1867362 Severe combined immunodeficiency, B cell-negative;
NM_000448.3(RAG1):c.2332C>T (p.Arg778Trp)5896RAG1Pathogenicrs752020152RCV000988529|RCV001389161; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659718636597186CT11:g.36597186C>T-
NM_000448.3(RAG1):c.2348C>G (p.Ser783Ter)5896RAG1Pathogenic/Likely pathogenicrs754502950RCV000695106|RCV000768065; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MONDO:MONDO:0012359,MedGen:C1835931,OMIM:609889, Orphanet:231154; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:3312113659720236597202CG11:g.36597202C>G-C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000448.3(RAG1):c.2376T>A (p.Pro792=)5896RAG1Likely benign-1RCV001457467; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659723036597230TA36597230-
NM_000448.3(RAG1):c.2393A>G (p.His798Arg)5896RAG1Likely pathogenic-1RCV001530178; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659724736597247AG36597247-
NM_000448.3(RAG1):c.2426A>G (p.Lys809Arg)5896RAG1Uncertain significancers773703055RCV000294306|RCV000330468|RCV001049027; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:33120113659728036597280AG11:g.36597280A>GClinGen:CA5950257
NM_000448.3(RAG1):c.2428A>G (p.Ile810Val)5896RAG1Uncertain significancers61752933RCV001103484|RCV001103485; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659728236597282AG11:g.36597282A>G-
NM_000448.3(RAG1):c.2442G>T (p.Glu814Asp)5896RAG1Conflicting interpretations of pathogenicityrs768860215RCV000486567|RCV001041164; NMedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659729636597296GT11:g.36597296G>TClinGen:CA5950260CN517202 not provided;
NM_000448.3(RAG1):c.2444T>C (p.Ile815Thr)5896RAG1Uncertain significancers1251259946RCV001063659; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659729836597298TC11:g.36597298T>C-
NM_000448.3(RAG1):c.2445A>G (p.Ile815Met)5896RAG1Uncertain significancers748162851RCV001300165; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659729936597299AG36597299-
NM_000448.3(RAG1):c.2451A>G (p.Glu817=)5896RAG1Benign/Likely benignrs61758791RCV000645691|RCV001653966; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MedGen:CN517202113659730536597305AG11:g.36597305A>GClinGen:CA5950264
NM_000448.3(RAG1):c.2459A>G (p.Lys820Arg)5896RAG1Benignrs2227973RCV000245314|RCV000290555|RCV000385043|RCV001512872|RCV001636747|RCV001795396; NMedGen:CN169374|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:60145113659731336597313AG11:g.36597313A>GClinGen:CA5950267,UniProtKB:P15918#VAR_008892
NM_000448.3(RAG1):c.2468A>G (p.Asn823Ser)5896RAG1Uncertain significancers147656090RCV001041476; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659732236597322AG11:g.36597322A>G-
NM_000448.3(RAG1):c.2468A>C (p.Asn823Thr)5896RAG1Uncertain significancers147656090RCV001220585; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659732236597322AC11:g.36597322A>C-
NM_000448.3(RAG1):c.2481G>A (p.Glu827=)5896RAG1Likely benign-1RCV001495506; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659733536597335GA36597335-
NM_000448.3(RAG1):c.2487G>T (p.Arg829Ser)5896RAG1Uncertain significancers752304188RCV001103487|RCV001103486; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659734136597341GT11:g.36597341G>T-
NM_000448.3(RAG1):c.2500G>T (p.Ala834Ser)5896RAG1Uncertain significancers1215266586RCV000529956; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659735436597354GT11:g.36597354G>TClinGen:CA380154862C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000448.3(RAG1):c.2506C>T (p.Leu836=)5896RAG1Likely benign-1RCV001479765; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659736036597360CT36597360-
NM_000448.3(RAG1):c.2516A>T (p.His839Leu)5896RAG1Uncertain significancers778785063RCV000800055; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659737036597370AT11:g.36597370A>T-
NM_000448.3(RAG1):c.2521C>T (p.Arg841Trp)5896RAG1Likely pathogenicrs104894287RCV000014040|RCV001205083; NMONDO:MONDO:0012359,MedGen:C1835931,OMIM:609889, Orphanet:231154|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659737536597375CT11:g.36597375C>TClinGen:CA122907,UniProtKB:P15918#VAR_025985,OMIM:179615.0016C1835931 609889 Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity;
NM_000448.3(RAG1):c.2527A>G (p.Lys843Glu)5896RAG1Uncertain significancers186717025RCV000693037; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659738136597381AG11:g.36597381A>G-
NM_000448.3(RAG1):c.2571C>T (p.Ala857=)5896RAG1Conflicting interpretations of pathogenicityrs141560248RCV000544855|RCV000602577|RCV001105405|RCV001105406|RCV001703201; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MedGen:CN169374|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:6035113659742536597425CT11:g.36597425C>TClinGen:CA5950290
NM_000448.3(RAG1):c.2603C>T (p.Ala868Val)5896RAG1Conflicting interpretations of pathogenicityrs193922462RCV000030391|RCV000803712; NHuman Phenotype Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110, Orphanet:183660|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659745736597457CT11:g.36597457C>TClinGen:CA214197C0085110 Severe combined immunodeficiency disease;
NM_000448.3(RAG1):c.2605G>T (p.Val869Phe)5896RAG1Uncertain significancers201313833RCV001067051; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659745936597459GT11:g.36597459G>T-
NM_000448.3(RAG1):c.2607T>C (p.Val869=)5896RAG1Likely benign-1RCV001443548; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659746136597461TC36597461-
NM_000448.3(RAG1):c.2615T>G (p.Leu872Ter)5896RAG1Pathogenic-1RCV001385792; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659746936597469TG36597469-
NM_000448.3(RAG1):c.2625C>G (p.Ser875=)5896RAG1Likely benign-1RCV001445239; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659747936597479CG36597479-
NM_000448.3(RAG1):c.2625C>T (p.Ser875=)5896RAG1Likely benign-1RCV001423575; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659747936597479CT36597479-
NM_000448.3(RAG1):c.2626G>A (p.Glu876Lys)5896RAG1Uncertain significancers145772007RCV000345492|RCV000391789|RCV000824429|RCV001255281; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:33120113659748036597480GA11:g.36597480G>AClinGen:CA5950301
NM_000448.3(RAG1):c.2638G>A (p.Glu880Lys)5896RAG1Benignrs4151033RCV000127711|RCV000554305|RCV001105407|RCV001105408; NMedGen:CN169374|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:60145113659749236597492GA11:g.36597492G>AClinGen:CA293052,UniProtKB:P15918#VAR_020114
NM_000448.3(RAG1):c.2659G>A (p.Asp887Asn)5896RAG1Benign/Likely benignrs4151034RCV000287102|RCV000341833|RCV000532748; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:33120113659751336597513GA11:g.36597513G>AClinGen:CA5950306,UniProtKB:P15918#VAR_029264
NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter)5896RAG1Pathogenicrs757797994RCV000579006|RCV001041560|RCV001731796; NMedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|Human Phenotype Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110, Orphanet:183660113659754336597543CT11:g.36597543C>TClinGen:CA220564442CN517202 not provided;
NM_000448.3(RAG1):c.2709A>G (p.Lys903=)5896RAG1Uncertain significancers1850844060RCV001317432; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659756336597563AG36597563-
NM_000448.3(RAG1):c.2715C>T (p.Cys905=)5896RAG1Likely benignrs138119069RCV000645696; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659756936597569CT11:g.36597569C>TClinGen:CA5950310
NM_000448.3(RAG1):c.2733G>C (p.Gln911His)5896RAG1Uncertain significance-1RCV001360113; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659758736597587GC36597587-
NM_000448.3(RAG1):c.2751G>A (p.Gln917=)5896RAG1Benign/Likely benignrs150721661RCV000302327|RCV000408443|RCV000871433|RCV001660594; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:33120113659760536597605GA11:g.36597605G>AClinGen:CA5950313
NM_000448.3(RAG1):c.2752C>T (p.Arg918Cys)5896RAG1Uncertain significancers753962790RCV001305382; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659760636597606CT36597606-
NM_000448.3(RAG1):c.2753G>A (p.Arg918His)5896RAG1Uncertain significancers368073575RCV001055272; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659760736597607GA11:g.36597607G>A-
NM_000448.3(RAG1):c.2774C>T (p.Thr925Met)5896RAG1Uncertain significancers144893101RCV000693597; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659762836597628CT11:g.36597628C>T-C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000448.3(RAG1):c.2777A>C (p.Lys926Thr)5896RAG1Uncertain significancers1350887566RCV001343319; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659763136597631AC36597631-
NM_000448.3(RAG1):c.2799A>G (p.Gly933=)5896RAG1Conflicting interpretations of pathogenicityrs769375583RCV000542779|RCV001106547|RCV001106548; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:3904113659765336597653AG11:g.36597653A>GClinGen:CA5950324C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000448.3(RAG1):c.2824A>T (p.Thr942Ser)5896RAG1Uncertain significancers1850846848RCV001346267; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659767836597678AT36597678-
NM_000448.3(RAG1):c.2825C>T (p.Thr942Ile)5896RAG1Uncertain significancers762625040RCV000357136|RCV000404870; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659767936597679CT11:g.36597679C>TClinGen:CA5950326
NM_000448.3(RAG1):c.2832C>G (p.Ala944=)5896RAG1Likely benign-1RCV001450377; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659768636597686CG36597686-
NM_000448.3(RAG1):c.2834A>G (p.His945Arg)5896RAG1Uncertain significancers1850847083RCV001207138; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659768836597688AG11:g.36597688A>G-
NM_000448.3(RAG1):c.2861G>T (p.Gly954Val)5896RAG1Uncertain significancers1850847509RCV001056745; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659771536597715GT11:g.36597715G>T-
NM_000448.3(RAG1):c.2867T>C (p.Ile956Thr)5896RAG1Pathogenic-1RCV001389162; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659772136597721TC36597721-
NM_000448.3(RAG1):c.2877G>A (p.Trp959Ter)5896RAG1Pathogenicrs1850847819RCV001242919; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659773136597731GA11:g.36597731G>A-
NM_000448.3(RAG1):c.2878G>T (p.Ala960Ser)5896RAG1Uncertain significancers897086171RCV001217159; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659773236597732GT11:g.36597732G>T-
NM_000448.3(RAG1):c.2880A>G (p.Ala960=)5896RAG1Benignrs1980131RCV000250266|RCV000297247|RCV000370544|RCV001283659|RCV001517506|RCV001706295; NMedGen:CN169374|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MedGen:CN235283|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C18113659773436597734AG11:g.36597734A>GClinGen:CA5950333C1801959 603554 Histiocytic medullary reticulosis;
NM_000448.3(RAG1):c.2896T>A (p.Ser966Thr)5896RAG1Uncertain significancers973731079RCV001337886; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659775036597750TA36597750-
NM_000448.3(RAG1):c.2904C>A (p.Asn968Lys)5896RAG1Conflicting interpretations of pathogenicityrs193922463RCV000030392|RCV001205368; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659775836597758CA11:g.36597758C>AClinGen:CA214200C1801959 603554 Histiocytic medullary reticulosis;
NM_000448.3(RAG1):c.2913T>C (p.Phe971=)5896RAG1Likely benign-1RCV001443280; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659776736597767TC36597767-
NM_000448.3(RAG1):c.2917C>T (p.Arg973Cys)5896RAG1Conflicting interpretations of pathogenicityrs1389614116RCV001060735|RCV001706717; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659777136597771CT11:g.36597771C>T-
NM_000448.3(RAG1):c.2918G>C (p.Arg973Pro)5896RAG1Uncertain significancers1384545687RCV001070572; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659777236597772GC11:g.36597772G>C-
NM_000448.3(RAG1):c.2923C>T (p.Arg975Trp)5896RAG1Uncertain significancers121918570RCV000014045|RCV000820053; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659777736597777CT11:g.36597777C>TClinGen:CA122919,UniProtKB:P15918#VAR_045959,OMIM:179615.0021C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln)5896RAG1Pathogenicrs150739647RCV000059574|RCV000780682|RCV001384587; NMedGen:CN517202|Human Phenotype Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110, Orphanet:183660|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659777836597778GA11:g.36597778G>AClinGen:CA219836,UniProtKB:P15918#VAR_025987,UniProtKB/Swiss-Prot:VAR_025987CN517202 not provided;
NM_000448.3(RAG1):c.2945C>A (p.Ser982Tyr)5896RAG1Uncertain significancers1245287257RCV001267788; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659779936597799CA11:g.36597799C>A-
NM_000448.3(RAG1):c.2955T>C (p.Tyr985=)5896RAG1Benign/Likely benignrs139084848RCV000872411|RCV001108722|RCV001108723; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:33120113659780936597809TC11:g.36597809T>C-
NM_000448.3(RAG1):c.2968G>A (p.Val990Ile)5896RAG1Uncertain significancers886048255RCV000276078|RCV000331243; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659782236597822GA11:g.36597822G>AClinGen:CA10638993
NM_000448.3(RAG1):c.2974A>G (p.Lys992Glu)5896RAG1Pathogenicrs539590514RCV000414066|RCV000542154; NMedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659782836597828AG11:g.36597828A>GClinGen:CA16042785C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000448.3(RAG1):c.2981A>G (p.His994Arg)5896RAG1Conflicting interpretations of pathogenicityrs775412266RCV000412932|RCV000687603; NMedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659783536597835AG11:g.36597835A>GClinGen:CA5950346C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000448.3(RAG1):c.3009G>T (p.Gln1003His)5896RAG1Uncertain significance-1RCV001362053; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659786336597863GT36597863-
NM_000448.3(RAG1):c.3012G>A (p.Lys1004=)5896RAG1Likely benign-1RCV001473440; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659786636597866GA36597866-
NM_000448.3(RAG1):c.3016A>G (p.Met1006Val)5896RAG1Conflicting interpretations of pathogenicityrs139113046RCV000645690|RCV001108725|RCV001108724|RCV001544721; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:3904113659787036597870AG11:g.36597870A>GClinGen:CA5950353
NM_000448.3(RAG1):c.3025C>T (p.His1009Tyr)5896RAG1Uncertain significancers376829075RCV001061467; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659787936597879CT11:g.36597879C>T-
NM_000448.3(RAG1):c.3042C>T (p.Thr1014=)5896RAG1Likely benign-1RCV001396890; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659789636597896CT36597896-
NM_000448.3(RAG1):c.3083C>A (p.Pro1028Gln)5896RAG1Uncertain significancers771708758RCV001242373; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659793736597937CA11:g.36597937C>A-
NM_000448.3(RAG1):c.3083C>T (p.Pro1028Leu)5896RAG1Uncertain significancers771708758RCV001337503; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659793736597937CT36597937-
NM_000448.3(RAG1):c.3084A>G (p.Pro1028=)5896RAG1Likely benign-1RCV001501670; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113659793836597938AG36597938-
NM_000448.3(RAG1):c.3106G>C (p.Glu1036Gln)5896RAG1Uncertain significancers1850853178RCV001230181; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659796036597960GC11:g.36597960G>C-
NM_000448.3(RAG1):c.*47T>C5896RAG1Uncertain significancers955448714RCV001108726|RCV001108727; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659803336598033TC11:g.36598033T>C-
NM_000448.3(RAG1):c.*200C>T5896RAG1Uncertain significancers886048256RCV000272712|RCV000367216; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659818636598186CT11:g.36598186C>TClinGen:CA10630821
NM_000448.3(RAG1):c.*238G>A5896RAG1Uncertain significancers4151035RCV000327820|RCV000381869; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659822436598224GA11:g.36598224G>AClinGen:CA10638994
NM_000448.3(RAG1):c.*273G>C5896RAG1Uncertain significancers144069419RCV001103564|RCV001103565; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659825936598259GC11:g.36598259G>C-
NM_000448.3(RAG1):c.*344G>A5896RAG1Uncertain significancers886048257RCV000287977|RCV000324246; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659833036598330GA11:g.36598330G>AClinGen:CA10630826
NM_000448.3(RAG1):c.*362T>C5896RAG1Uncertain significancers946957748RCV001105490|RCV001105491; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659834836598348TC11:g.36598348T>C-
NM_000448.3(RAG1):c.*363T>C5896RAG1Uncertain significancers1850859738RCV001105492|RCV001105493; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659834936598349TC11:g.36598349T>C-
NM_000448.3(RAG1):c.*370G>T5896RAG1Uncertain significancers569692485RCV000284279|RCV000378801; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659835636598356GT11:g.36598356G>TClinGen:CA10638995
NM_000448.3(RAG1):c.*398G>A5896RAG1Benignrs4151036RCV000280775|RCV000336196; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659838436598384GA11:g.36598384G>AClinGen:CA10634784
NM_000448.3(RAG1):c.*420T>C5896RAG1Uncertain significancers4151037RCV001106655|RCV001106656; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659840636598406TC11:g.36598406T>C-
NM_000448.3(RAG1):c.*589G>A5896RAG1Benignrs4151038RCV000315226|RCV000391297; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659857536598575GA11:g.36598575G>AClinGen:CA10634785
NM_000448.3(RAG1):c.*627A>G5896RAG1Uncertain significancers1322490118RCV001106657|RCV001106658; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659861336598613AG11:g.36598613A>G-
NM_000448.3(RAG1):c.*709A>G5896RAG1Uncertain significancers1203179556RCV001106660|RCV001106659; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659869536598695AG11:g.36598695A>G-
NM_000448.3(RAG1):c.*739C>T5896RAG1Uncertain significancers4151039RCV000351405|RCV000391481; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659872536598725CT11:g.36598725C>TClinGen:CA10634802
NM_000448.3(RAG1):c.*766A>G5896RAG1Uncertain significancers886048259RCV000311707|RCV000366370; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659875236598752AG11:g.36598752A>GClinGen:CA10638998
NM_000448.3(RAG1):c.*1074G>A5896RAG1Uncertain significancers529708456RCV001108810|RCV001108811; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659906036599060GA11:g.36599060G>A-
NM_000448.3(RAG1):c.*1083C>T5896RAG1Benignrs4151040RCV000323545|RCV000378291; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659906936599069CT11:g.36599069C>TClinGen:CA10630828
NM_000448.3(RAG1):c.*1101G>A5896RAG1Uncertain significancers145963034RCV000265029|RCV000320187; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659908736599087GA11:g.36599087G>AClinGen:CA10630837
NM_000448.3(RAG1):c.*1111G>C5896RAG1Uncertain significancers1850870990RCV001103661|RCV001103660; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659909736599097GC11:g.36599097G>C-
NM_000448.3(RAG1):c.*1124C>T5896RAG1Uncertain significancers756654880RCV001103663|RCV001103662; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659911036599110CT11:g.36599110C>T-
NM_000448.3(RAG1):c.*1130A>G5896RAG1Uncertain significancers554469239RCV000280355|RCV000374848; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659911636599116AG11:g.36599116A>GClinGen:CA10634803
NM_000448.3(RAG1):c.*1146C>T5896RAG1Uncertain significancers1051248827RCV001105599|RCV001105598; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659913236599132CT11:g.36599132C>T-
NM_000448.3(RAG1):c.*1178G>A5896RAG1Benignrs149724031RCV001105601|RCV001105600; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659916436599164GA11:g.36599164G>A-
NM_000448.3(RAG1):c.*1277G>A5896RAG1Uncertain significancers1850873586RCV001105602|RCV001105603; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659926336599263GA11:g.36599263G>A-
NM_000448.3(RAG1):c.*1287T>C5896RAG1Uncertain significancers1035645614RCV001105604|RCV001105605; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659927336599273TC11:g.36599273T>C-
NM_000448.3(RAG1):c.*1293G>C5896RAG1Uncertain significancers1214769858RCV001106749|RCV001106750; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659927936599279GC11:g.36599279G>C-
NM_000448.3(RAG1):c.*1307C>T5896RAG1Likely benignrs572674156RCV001106751|RCV001106752; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659929336599293CT11:g.36599293C>T-
NM_000448.3(RAG1):c.*1366A>G5896RAG1Benignrs371127461RCV000351671|RCV000389858; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659935236599352AG11:g.36599352A>GClinGen:CA10639009
NM_000448.3(RAG1):c.*1478C>T5896RAG1Uncertain significancers898762722RCV001106753|RCV001106754; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659946436599464CT11:g.36599464C>T-
NM_000448.3(RAG1):c.*1515T>C5896RAG1Uncertain significancers1850877439RCV001108913|RCV001108914; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659950136599501TC11:g.36599501T>C-
NM_000448.3(RAG1):c.*1539G>A5896RAG1Uncertain significancers987368823RCV001108916|RCV001108915; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659952536599525GA11:g.36599525G>A-
NM_000448.3(RAG1):c.*1562A>G5896RAG1Uncertain significancers185464049RCV000293216|RCV000350388; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659954836599548AG11:g.36599548A>GClinGen:CA10630838
NM_000448.3(RAG1):c.*1611G>A5896RAG1Uncertain significancers886048262RCV000310726|RCV000393592; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659959736599597GA11:g.36599597G>AClinGen:CA10639010C1801959 603554 Histiocytic medullary reticulosis;
NM_000448.3(RAG1):c.*1701T>C5896RAG1Uncertain significancers886048263RCV000344530|RCV000393587; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659968736599687TC11:g.36599687T>CClinGen:CA10638411C1801959 603554 Histiocytic medullary reticulosis;
NM_000448.3(RAG1):c.*1705A>G5896RAG1Uncertain significancers886048264RCV000304685|RCV000361733; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659969136599691AG11:g.36599691A>GClinGen:CA10630839C1801959 603554 Histiocytic medullary reticulosis;
NM_000448.3(RAG1):c.*1732C>T5896RAG1Uncertain significancers938546665RCV001103755|RCV001103756; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113659971836599718CT11:g.36599718C>T-
NM_000448.3(RAG1):c.*1767A>C5896RAG1Uncertain significancers1183147057RCV001103757|RCV001103758; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659975336599753AC11:g.36599753A>C-
NM_000448.3(RAG1):c.*1978C>T5896RAG1Benignrs4151044RCV001105701|RCV001105700; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659996436599964CT11:g.36599964C>T-
NM_000448.3(RAG1):c.*2012T>C5896RAG1Uncertain significancers1475530896RCV001105703|RCV001105702; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113659999836599998TC11:g.36599998T>C-
NM_000448.3(RAG1):c.*2211C>T5896RAG1Uncertain significancers538916870RCV000264538|RCV000303552; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113660019736600197CT11:g.36600197C>TClinGen:CA10634804C1801959 603554 Histiocytic medullary reticulosis;
NM_000448.3(RAG1):c.*2246T>C5896RAG1Benignrs4151045RCV000263496|RCV000355976; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113660023236600232TC11:g.36600232T>CClinGen:CA10639018C1801959 603554 Histiocytic medullary reticulosis;
NM_000448.3(RAG1):c.*2289T>G5896RAG1Uncertain significancers200013770RCV000316375|RCV000372949; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113660027536600275TG11:g.36600275T>GClinGen:CA10638412C1801959 603554 Histiocytic medullary reticulosis;
NM_000448.3(RAG1):c.*2308G>A5896RAG1Uncertain significancers766934756RCV000276014|RCV000333530; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113660029436600294GA11:g.36600294G>AClinGen:CA10630840
NM_000448.3(RAG1):c.*2442G>A5896RAG1Uncertain significancers886048265RCV000293773|RCV000385663; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113660042836600428GA11:g.36600428G>AClinGen:CA10634805
NM_000448.3(RAG1):c.*2530G>T5896RAG1Benignrs4151047RCV000327734|RCV000384657; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113660051636600516GT11:g.36600516G>TClinGen:CA10634808
NM_000448.3(RAG1):c.*2599A>C5896RAG1Benignrs375155856RCV000287453|RCV000345294; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113660058536600585AC11:g.36600585A>CClinGen:CA10639020
NM_000448.3(RAG1):c.*2654A>G5896RAG1Benignrs369536926RCV001107478|RCV001107479; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113660064036600640AG11:g.36600640A>G-
NM_000448.3(RAG1):c.*2828G>A5896RAG1Uncertain significancers1003540768RCV001107480|RCV001107481; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113660081436600814GA11:g.36600814G>A-
NM_000448.3(RAG1):c.*3058A>G5896RAG1Uncertain significancers746468007RCV000299499|RCV000356780; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113660104436601044AG11:g.36601044A>GClinGen:CA10639021
NM_000448.3(RAG1):c.*3156A>G5896RAG1Likely benignrs183729240RCV000273992|RCV000370986; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113660114236601142AG11:g.36601142A>GClinGen:CA10639023
NM_000448.3(RAG1):c.*3184G>A5896RAG1Benignrs1056403RCV000331349|RCV000365249; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113660117036601170GA11:g.36601170G>AClinGen:CA10639024
NM_000448.3(RAG1):c.*3191T>C5896RAG1Uncertain significancers1159054368RCV001103847|RCV001103848; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113660117736601177TC11:g.36601177T>C-
NM_000536.4(RAG2):c.*582T>C5897RAG2Uncertain significancers568192751RCV001105792|RCV001105791; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661355336613553AG11:g.36613553A>G-
NM_000536.4(RAG2):c.*522C>G5897RAG2Uncertain significancers886048267RCV000273040|RCV000325646; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113661361336613613GC11:g.36613613G>CClinGen:CA10638421
NM_000536.4(RAG2):c.*348C>G5897RAG2Uncertain significancers901433887RCV001105794|RCV001105793; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661378736613787GC11:g.36613787G>C-
NM_000536.4(RAG2):c.*328A>G5897RAG2Benignrs10836573RCV000286048|RCV000382631|RCV001672448; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MedGen:CN517202113661380736613807TC11:g.36613807T>CClinGen:CA10634816
NM_000536.4(RAG2):c.*227T>C5897RAG2Likely benignrs113343318RCV000324680|RCV000377037; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661390836613908AG11:g.36613908A>GClinGen:CA10634825
NM_000536.4(RAG2):c.*183C>A5897RAG2Benignrs12280564RCV000284928|RCV000337649|RCV001672449; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MedGen:CN517202113661395236613952GT11:g.36613952G>TClinGen:CA10638426
NM_000536.4(RAG2):c.*144G>T5897RAG2Benignrs12280515RCV000278096|RCV000390024|RCV001660595; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MedGen:CN517202113661399136613991CA11:g.36613991C>AClinGen:CA10634826
NM_000536.4(RAG2):c.*136A>C5897RAG2Uncertain significancers763674526RCV000335447|RCV000391477; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113661399936613999TG11:g.36613999T>GClinGen:CA10630846
NM_000536.4(RAG2):c.*90T>G5897RAG2Uncertain significancers886048268RCV000315566|RCV000367776; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661404536614045AC11:g.36614045A>CClinGen:CA10639025
NM_000536.4(RAG2):c.*52T>A5897RAG2Likely benignrs546979744RCV000269633|RCV000366449|RCV000440830; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MedGen:CN169374113661408336614083AT11:g.36614083A>TClinGen:CA10639027
NM_000536.4(RAG2):c.*33G>T5897RAG2Uncertain significancers886048270RCV000327047|RCV000360543; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113661410236614102CA11:g.36614102C>AClinGen:CA10638431
NC_000011.9:g.(?_36614125)_(36615728_?)del5897RAG2Pathogenic-1RCV001380913; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661412536615728nana-1-
NM_000536.4(RAG2):c.1573T>C (p.Leu525=)5897RAG2Likely benign-1RCV001481559; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661414636614146AG36614146-
NM_000536.4(RAG2):c.1566T>G (p.Leu522=)5897RAG2Likely benign-1RCV001432912; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661415336614153AC36614153-
NM_000536.4(RAG2):c.1565T>C (p.Leu522Pro)5897RAG2Uncertain significancers764457023RCV001325911; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661415436614154AG36614154-
NM_000536.4(RAG2):c.1564C>T (p.Leu522Phe)5897RAG2Uncertain significancers1169944983RCV001297405; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661415536614155GA36614155-
NM_000536.4(RAG2):c.1560C>T (p.Ser520=)5897RAG2Likely benign-1RCV001425053; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661415936614159GA36614159-
NM_000536.4(RAG2):c.1542G>C (p.Leu514Phe)5897RAG2Uncertain significancers754150018RCV001221719; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661417736614177CG11:g.36614177C>G-
NM_000536.4(RAG2):c.1531G>T (p.Gly511Ter)5897RAG2Uncertain significance-1RCV001360369; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661418836614188CA36614188-
NM_000536.4(RAG2):c.1526G>T (p.Gly509Val)5897RAG2Uncertain significancers779267024RCV000756589|RCV001322463; NMedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661419336614193CA11:g.36614193C>A-
NM_000536.4(RAG2):c.1518T>C (p.Arg506=)5897RAG2Likely benign-1RCV001446045; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661420136614201AG36614201-
NM_000536.4(RAG2):c.1517G>A (p.Arg506His)5897RAG2Uncertain significancers144812762RCV000268156|RCV000320901|RCV001247256; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:33120113661420236614202CT11:g.36614202C>TClinGen:CA5950401
NM_000536.4(RAG2):c.1516C>T (p.Arg506Cys)5897RAG2Uncertain significancers140089249RCV000821323|RCV001103956|RCV001103957; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:3904113661420336614203GA11:g.36614203G>A-
NM_000536.4(RAG2):c.1515C>A (p.Leu505=)5897RAG2Likely benign-1RCV001495967; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661420436614204GT36614204-
NM_000536.4(RAG2):c.1504A>G (p.Met502Val)5897RAG2Conflicting interpretations of pathogenicityrs145614809RCV000508579|RCV000681604|RCV000645688|RCV000669183|RCV001103958|RCV001103959|RCV001579122|RCV001653875; NMedGen:CN235283|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041; MONDO:MONDO:0000573,MedGen:CN257931; MONDO:MONDO:0003778,MedGen:C0398686, Orphanet:101997|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,Me113661421536614215TC11:g.36614215T>CClinGen:CA5950404C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000536.4(RAG2):c.1501C>G (p.Pro501Ala)5897RAG2Uncertain significancers781104028RCV001296764; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661421836614218GC36614218-
NM_000536.4(RAG2):c.1497G>A (p.Lys499=)5897RAG2Likely benign-1RCV001453471; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661422236614222CT36614222-
NM_000536.4(RAG2):c.1492A>T (p.Lys498Ter)5897RAG2Uncertain significancers373151027RCV001228693; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661422736614227TA11:g.36614227T>A-
NM_000536.4(RAG2):c.1483C>T (p.Leu495=)5897RAG2Likely benignrs772985232RCV000983240; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661423636614236GA11:g.36614236G>A-
NM_000536.4(RAG2):c.1443T>C (p.His481=)5897RAG2Likely benignrs560115611RCV000902744|RCV001273894; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113661427636614276AG11:g.36614276A>G-
NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr)5897RAG2Uncertain significancers121918573RCV000014009|RCV000681602; NMedGen:C1867362|MONDO:MONDO:0000573,MedGen:CN257931; MONDO:MONDO:0003778,MedGen:C0398686, Orphanet:101997; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661428636614286CT11:g.36614286C>TClinGen:CA122849,UniProtKB:P55895#VAR_005571,OMIM:179616.0001C0398686 Primary immunodeficiency;
NM_000536.4(RAG2):c.1431C>T (p.Tyr477=)5897RAG2Likely benign-1RCV001398612; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661428836614288GA36614288-
NM_000536.4(RAG2):c.1421A>G (p.Asn474Ser)5897RAG2Conflicting interpretations of pathogenicityrs757913323RCV000681601|RCV001247197; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0000573,MedGen:CN257931; MONDO:MONDO:0003778,MedGen:C0398686, Orphanet:101997|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,O113661429836614298TC11:g.36614298T>C-C0398686 Primary immunodeficiency;
NM_000536.4(RAG2):c.1414G>A (p.Gly472Arg)5897RAG2Uncertain significancers1413100202RCV001229182; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661430536614305CT11:g.36614305C>T-
NM_000536.4(RAG2):c.1403_1404dup (p.Leu469fs)5897RAG2Pathogenic-1RCV001381106; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661431436614315GGAT36614314-
NM_000536.4(RAG2):c.1404T>C (p.His468=)5897RAG2Likely benign-1RCV001440562; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661431536614315AG36614315-
NM_000536.4(RAG2):c.1403A>G (p.His468Arg)5897RAG2Uncertain significancers751064709RCV000535436|RCV001103961|RCV001103960; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:33120113661431636614316TC11:g.36614316T>CClinGen:CA5950419
NM_000536.4(RAG2):c.1396C>T (p.Leu466Phe)5897RAG2Uncertain significancers1590713653RCV000806149|RCV001104241|RCV001104242; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:3904113661432336614323GA11:g.36614323G>A-
NM_000536.4(RAG2):c.1395A>C (p.Thr465=)5897RAG2Likely benign-1RCV001480789; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661432436614324TG36614324-
NM_000536.4(RAG2):c.1391G>A (p.Arg464His)5897RAG2Conflicting interpretations of pathogenicityrs147748696RCV000497469|RCV001104244|RCV001104243|RCV001086733; NMedGen:CN517202|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:60145113661432836614328CT11:g.36614328C>TClinGen:CA5950422C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000536.4(RAG2):c.1390C>T (p.Arg464Cys)5897RAG2Uncertain significancers189020262RCV001248741|RCV001277939; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113661432936614329GA11:g.36614329G>A-
NM_000536.4(RAG2):c.1381C>T (p.Leu461=)5897RAG2Likely benignrs1342591484RCV000941326|RCV001460475; NMedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661433836614338GA11:g.36614338G>A-
NM_000536.4(RAG2):c.1367C>A (p.Ala456Asp)5897RAG2Uncertain significancers1479440369RCV001300504; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661435236614352GT36614352-
NM_000536.4(RAG2):c.1365T>C (p.His455=)5897RAG2Likely benign-1RCV001478678; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661435436614354AG36614354-
NM_000536.4(RAG2):c.1328T>C (p.Met443Thr)5897RAG2Likely pathogenic-1RCV001379226; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661439136614391AG36614391-
NM_000536.4(RAG2):c.1326C>T (p.Ala442=)5897RAG2Likely benign-1RCV001470353; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661439336614393GA36614393-
NM_000536.4(RAG2):c.1323C>T (p.Pro441=)5897RAG2Likely benign-1RCV001418192; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661439636614396GA36614396-
NM_000536.4(RAG2):c.1290G>A (p.Trp430Ter)5897RAG2Likely pathogenicrs1434362838RCV001220928; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661442936614429CT11:g.36614429C>T-
NM_000536.4(RAG2):c.1284C>T (p.Asn428=)5897RAG2Likely benign-1RCV001423629; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661443536614435GA36614435-
NM_000536.4(RAG2):c.1275_1278dup (p.Ile427fs)5897RAG2Pathogenic-1RCV001389164; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661444036614441TTATCC36614440-
NM_000536.4(RAG2):c.1268G>A (p.Cys423Tyr)5897RAG2Uncertain significancers768567592RCV000645685; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661445136614451CT11:g.36614451C>TClinGen:CA5950444
NM_000536.4(RAG2):c.1253C>T (p.Thr418Ile)5897RAG2Uncertain significancers781487639RCV000817293|RCV001273895; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113661446636614466GA11:g.36614466G>A-
NM_000536.4(RAG2):c.1251T>C (p.Ile417=)5897RAG2Likely benign-1RCV001437050; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661446836614468AG36614468-
NM_000536.4(RAG2):c.1242C>A (p.Gly414=)5897RAG2Likely benign-1RCV001481068; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661447736614477GT36614477-
NM_000536.4(RAG2):c.1221AGA[1] (p.Glu408del)5897RAG2Uncertain significance-1RCV001371533; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661449336614495ATCTA36614492-
NM_000536.4(RAG2):c.1209T>C (p.Asn403=)5897RAG2Conflicting interpretations of pathogenicityrs1351286949RCV001104246|RCV001104245|RCV001419564; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:15794113661451036614510AG11:g.36614510A>G-
NM_000536.4(RAG2):c.1198G>C (p.Asp400His)5897RAG2Uncertain significancers140682926RCV000556982|RCV001104247|RCV001104248; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:33120113661452136614521CG11:g.36614521C>GClinGen:CA5950451C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000536.4(RAG2):c.1196T>C (p.Phe399Ser)5897RAG2Uncertain significancers1851056904RCV001210158; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661452336614523AG11:g.36614523A>G-
NM_000536.4(RAG2):c.1185TGA[2] (p.Asp397del)5897RAG2Uncertain significancers567942993RCV000693036|RCV001273896; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113661452636614528TTCAT11:g.36614526_36614528del-
NM_000536.4(RAG2):c.1191T>C (p.Asp397=)5897RAG2Likely benignrs752248630RCV001278464|RCV001440216; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661452836614528AG11:g.36614528A>G-
NM_000536.4(RAG2):c.1187A>G (p.Asp396Gly)5897RAG2Uncertain significancers753730066RCV001107013|RCV001107014; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661453236614532TC11:g.36614532T>C-
NM_000536.4(RAG2):c.1184G>C (p.Gly395Ala)5897RAG2Uncertain significancers757081652RCV001246964; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661453536614535CG11:g.36614535C>G-
NM_000536.4(RAG2):c.1164A>G (p.Ala388=)5897RAG2Likely benign-1RCV001408841; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661455536614555TC36614555-
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu)5897RAG2Benign/Likely benignrs34629171RCV000127714|RCV000551519|RCV000670144|RCV000681590|RCV001107015|RCV001107016|RCV001282380|RCV001701521; NMedGen:CN169374|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0011338,MedGen:C2700553,OMIM:6035113661456136614561GT11:g.36614561G>TClinGen:CA293061
NM_000536.4(RAG2):c.1147G>A (p.Glu383Lys)5897RAG2Uncertain significancers377569152RCV001066261; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661457236614572CT11:g.36614572C>T-
NM_000536.4(RAG2):c.1138G>T (p.Asp380Tyr)5897RAG2Uncertain significancers151269922RCV001245749; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661458136614581CA11:g.36614581C>A-
NM_000536.4(RAG2):c.1131C>T (p.Pro377=)5897RAG2Likely benignrs777940606RCV000977671; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661458836614588GA11:g.36614588G>A-
NM_000536.4(RAG2):c.1120G>C (p.Asp374His)5897RAG2Uncertain significancers772618891RCV001222776; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661459936614599CG11:g.36614599C>G-
NM_000536.4(RAG2):c.1095T>C (p.Ser365=)5897RAG2Benign/Likely benignrs140519815RCV000262415|RCV000377795|RCV000645689|RCV001284894|RCV001091956; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:33120113661462436614624AG11:g.36614624A>GClinGen:CA5950474
NM_000536.4(RAG2):c.1092C>G (p.Asn364Lys)5897RAG2Uncertain significancers150349031RCV000823809|RCV001107017|RCV001107018; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:33120113661462736614627GC11:g.36614627G>C-
NM_000536.4(RAG2):c.1086C>G (p.Phe362Leu)5897RAG2Uncertain significancers1851061517RCV001201740; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661463336614633GC11:g.36614633G>C-
NM_000536.4(RAG2):c.1083A>G (p.Thr361=)5897RAG2Likely benign-1RCV001438126; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661463636614636TC36614636-
NM_000536.4(RAG2):c.1074G>A (p.Glu358=)5897RAG2Conflicting interpretations of pathogenicityrs557047531RCV001107674|RCV001107673|RCV001519036; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:15794113661464536614645CT11:g.36614645C>T-
NM_000536.4(RAG2):c.1050_1060del (p.Cys350_Asp354delinsTer)5897RAG2Pathogenicrs1851062418RCV001205818; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661465936614669TCATCTTCAGCAT11:g.36614659_36614669del-
NM_000536.4(RAG2):c.1041G>A (p.Met347Ile)5897RAG2Uncertain significancers766318035RCV001054685; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661467836614678CT11:g.36614678C>T-
NM_000536.4(RAG2):c.1038T>C (p.Tyr346=)5897RAG2Likely benign-1RCV001443346; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661468136614681AG36614681-
NM_000536.4(RAG2):c.1029C>T (p.Phe343=)5897RAG2Likely benign-1RCV001496842; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661469036614690GA36614690-
NM_000536.4(RAG2):c.1025G>A (p.Gly342Glu)5897RAG2Uncertain significancers367615315RCV001297485; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661469436614694CT36614694-
NM_000536.4(RAG2):c.1020A>C (p.Ser340=)5897RAG2Likely benign-1RCV001499445; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661469936614699TG36614699-
NM_000536.4(RAG2):c.983T>C (p.Phe328Ser)5897RAG2Uncertain significancers1851066103RCV001059751; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661473636614736AG11:g.36614736A>G-
NM_000536.4(RAG2):c.955G>T (p.Gly319Ter)5897RAG2Pathogenicrs879541124RCV000595625|RCV001220628; NMedGen:CN517202|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661476436614764CA11:g.36614764C>AClinGen:CA220579698C1801959 603554 Histiocytic medullary reticulosis;
NM_000536.4(RAG2):c.954del (p.Phe318fs)5897RAG2Likely pathogenic-1RCV001379080; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661476536614765CAC36614764-
NM_000536.4(RAG2):c.948A>G (p.Ile316Met)5897RAG2Benignrs545910812RCV000939362|RCV001273254; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113661477136614771TC11:g.36614771T>C-
NM_000536.4(RAG2):c.932T>C (p.Ile311Thr)5897RAG2Uncertain significancers1851070055RCV001327434; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661478736614787AG36614787-
NM_000536.4(RAG2):c.915A>G (p.Pro305=)5897RAG2Likely benign-1RCV001418229; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661480436614804TC36614804-
NM_000536.4(RAG2):c.909G>T (p.Glu303Asp)5897RAG2Uncertain significancers141025671RCV000319939|RCV000372164|RCV000808347|RCV000768066; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:33120113661481036614810CA11:g.36614810C>AClinGen:CA5950504
NM_000536.4(RAG2):c.909G>A (p.Glu303=)5897RAG2Likely benign-1RCV001493239; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661481036614810CT36614810-
NM_000536.4(RAG2):c.908A>G (p.Glu303Gly)5897RAG2Uncertain significancers757524729RCV000695762; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661481136614811TC11:g.36614811T>C-
NM_000536.4(RAG2):c.904A>T (p.Met302Leu)5897RAG2Uncertain significancers1851071285RCV001307569; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661481536614815TA36614815-
NM_000536.4(RAG2):c.899G>A (p.Arg300His)5897RAG2Likely benignrs138857320RCV000539028; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661482036614820CT11:g.36614820C>TClinGen:CA5950506C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000536.4(RAG2):c.898C>T (p.Arg300Cys)5897RAG2Uncertain significancers746253611RCV001064712|RCV001273897; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113661482136614821GA11:g.36614821G>A-
NM_000536.4(RAG2):c.895del (p.Ile299fs)5897RAG2Pathogenic-1RCV001389866; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661482436614824ATA36614823-
NM_000536.4(RAG2):c.884A>G (p.Asn295Ser)5897RAG2Uncertain significancers770231022RCV001239004; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661483536614835TC11:g.36614835T>C-
NM_000536.4(RAG2):c.878A>G (p.Glu293Gly)5897RAG2Benignrs16929093RCV000249107|RCV000280026|RCV000352049|RCV000756588|RCV001081787|RCV001707575; NMedGen:CN169374|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MedGen:CN235283|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C18113661484136614841TC11:g.36614841T>CClinGen:CA5950510,UniProtKB:P55895#VAR_045961
NM_000536.4(RAG2):c.873T>C (p.Ser291=)5897RAG2Likely benign-1RCV001446835; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661484636614846AG36614846-
NM_000536.4(RAG2):c.862A>G (p.Asn288Asp)5897RAG2Uncertain significancers886048271RCV000293705|RCV000385580; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113661485736614857TC11:g.36614857T>CClinGen:CA10630847
NM_000536.4(RAG2):c.844C>A (p.Gln282Lys)5897RAG2Uncertain significancers1851073997RCV001062500; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661487536614875GT11:g.36614875G>T-
NM_000536.4(RAG2):c.836T>C (p.Leu279Pro)5897RAG2Uncertain significancers1851074227RCV001267789; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661488336614883AG11:g.36614883A>G-
NM_000536.4(RAG2):c.830A>G (p.Tyr277Cys)5897RAG2Uncertain significancers772880437RCV000792674; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661488936614889TC11:g.36614889T>C-
NM_000536.4(RAG2):c.829dup (p.Tyr277fs)5897RAG2Pathogenic-1RCV001389166; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661488936614890TTA36614889-
NM_000536.4(RAG2):c.826G>A (p.Gly276Ser)5897RAG2Uncertain significancers1851074701RCV001313623; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661489336614893CT36614893-
NM_000536.4(RAG2):c.814G>A (p.Val272Ile)5897RAG2Uncertain significancers117899975RCV001043775|RCV001357399|RCV001274396; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MedGen:CN517202|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113661490536614905CT11:g.36614905C>T-
NM_000536.4(RAG2):c.809A>G (p.Glu270Gly)5897RAG2Uncertain significancers149241274RCV000685966; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661491036614910TC11:g.36614910T>C-C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000536.4(RAG2):c.803A>G (p.Asn268Ser)5897RAG2Uncertain significancers368935791RCV001104045|RCV001104046; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113661491636614916TC11:g.36614916T>C-
NM_000536.4(RAG2):c.802A>C (p.Asn268His)5897RAG2Uncertain significancers1851075681RCV001306447; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661491736614917TG36614917-
NM_000536.4(RAG2):c.789G>A (p.Leu263=)5897RAG2Likely benign-1RCV001428799; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661493036614930CT36614930-
NM_000536.4(RAG2):c.787C>T (p.Leu263=)5897RAG2Likely benign-1RCV001488672; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661493236614932GA36614932-
NM_000536.4(RAG2):c.786C>T (p.Ile262=)5897RAG2Likely benign-1RCV001450356; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661493336614933GA36614933-
NM_000536.4(RAG2):c.764G>T (p.Gly255Val)5897RAG2Uncertain significancers780531526RCV001338682; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661495536614955CA36614955-
NM_000536.4(RAG2):c.750A>G (p.Thr250=)5897RAG2Likely benign-1RCV001393322; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661496936614969TC36614969-
NM_000536.4(RAG2):c.741G>A (p.Val247=)5897RAG2Benignrs34092949RCV000127713|RCV000346294|RCV000398353|RCV000550607; NMedGen:CN169374|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:23365113661497836614978CT11:g.36614978C>TClinGen:CA293058
NM_000536.4(RAG2):c.733C>T (p.Pro245Ser)5897RAG2Uncertain significancers918016464RCV001048559; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661498636614986GA11:g.36614986G>A-
NM_000536.4(RAG2):c.724dup (p.Leu242fs)5897RAG2Pathogenic-1RCV001380349; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661499436614995AAG36614994-
NM_000536.4(RAG2):c.724C>T (p.Leu242=)5897RAG2Likely benign-1RCV001475647; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661499536614995GA36614995-
NM_000536.4(RAG2):c.723C>A (p.Pro241=)5897RAG2Likely benignrs1436212234RCV000932074|RCV001413609; NMedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661499636614996GT11:g.36614996G>T-
NM_000536.4(RAG2):c.723C>G (p.Pro241=)5897RAG2Likely benign-1RCV001466129; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661499636614996GC36614996-
NM_000536.4(RAG2):c.719T>C (p.Leu240Pro)5897RAG2Uncertain significancers1851078112RCV001233027; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661500036615000AG11:g.36615000A>G-
NM_000536.4(RAG2):c.718C>T (p.Leu240Phe)5897RAG2Uncertain significancers374781438RCV001240091; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661500136615001GA11:g.36615001G>A-
NM_000536.4(RAG2):c.711G>T (p.Arg237Ser)5897RAG2Uncertain significancers1254138271RCV001053661; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661500836615008CA11:g.36615008C>A-
NM_000536.4(RAG2):c.695A>G (p.Asn232Ser)5897RAG2Uncertain significancers550672306RCV001309016; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661502436615024TC36615024-
NM_000536.4(RAG2):c.687G>A (p.Arg229=)5897RAG2Likely benign-1RCV001415955; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661503236615032CT36615032-
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln)5897RAG2Conflicting interpretations of pathogenicityrs121917894RCV000014011|RCV000014010|RCV000681586|RCV001049147; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MedGen:C1867362|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041; MONDO:MONDO:0003778,MedGen:C0398686, Orphanet:10113661503336615033CT11:g.36615033C>TClinGen:CA122854,UniProtKB:P55895#VAR_005570,OMIM:179616.0002C1801959 603554 Histiocytic medullary reticulosis;
NM_000536.4(RAG2):c.685C>T (p.Arg229Trp)5897RAG2Conflicting interpretations of pathogenicityrs765298019RCV000681587|RCV001042148|RCV001273255; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0000573,MedGen:CN257931; MONDO:MONDO:0003778,MedGen:C0398686, Orphanet:101997|MONDO:MONDO:0009306,MedGen:C2673536,OM113661503436615034GA11:g.36615034G>A-C1801959 603554 Histiocytic medullary reticulosis;
NM_000536.4(RAG2):c.682A>T (p.Ile228Phe)5897RAG2Uncertain significance-1RCV001578809|RCV001578811|RCV001578810; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113661503736615037TA36615037-
NM_000536.4(RAG2):c.681T>C (p.Asn227=)5897RAG2Likely benignrs1590715665RCV000979516|RCV001421688; NMedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661503836615038AG11:g.36615038A>G-
NM_000536.4(RAG2):c.677A>G (p.Asn226Ser)5897RAG2Uncertain significancers886048272RCV000306314|RCV000344794; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661504236615042TC11:g.36615042T>CClinGen:CA10634832
NM_000536.4(RAG2):c.675C>G (p.Ala225=)5897RAG2Likely benign-1RCV001407032; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661504436615044GC36615044-
NM_000536.4(RAG2):c.648C>A (p.Ile216=)5897RAG2Likely benign-1RCV001470827; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661507136615071GT36615071-
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile)5897RAG2Conflicting interpretations of pathogenicityrs35691292RCV000014016|RCV000433357|RCV000681585|RCV000645697|RCV001081978|RCV001104047|RCV001104048; NMedGen:C1867362|MedGen:CN169374|MONDO:MONDO:0000573,MedGen:CN257931; MONDO:MONDO:0003778,MedGen:C0398686, Orphanet:101997; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MedGen113661507536615075GA11:g.36615075G>AClinGen:CA122864,OMIM:179616.0007C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000536.4(RAG2):c.638dup (p.Asn213fs)5897RAG2Pathogenicrs1851080959RCV001203140; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661508036615081AAT11:g.36615080_36615081insT-
NM_000536.4(RAG2):c.595G>T (p.Glu199Ter)5897RAG2Pathogenicrs748727021RCV000547792; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661512436615124CA11:g.36615124C>AClinGen:CA5950551
NM_000536.4(RAG2):c.562G>C (p.Glu188Gln)5897RAG2Uncertain significancers1554947160RCV000645687; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661515736615157CG11:g.36615157C>GClinGen:CA380142594
NM_000536.4(RAG2):c.558T>C (p.Asp186=)5897RAG2Likely benign-1RCV001485414; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661516136615161AG36615161-
NM_000536.4(RAG2):c.541T>C (p.Cys181Arg)5897RAG2Uncertain significancers1564996998RCV000705346; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661517836615178AG11:g.36615178A>G-
NM_000536.4(RAG2):c.528T>C (p.Ala176=)5897RAG2Likely benignrs762907049RCV001278471|RCV001464908; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661519136615191AG11:g.36615191A>G-
NM_000536.4(RAG2):c.507A>T (p.Thr169=)5897RAG2Likely benign-1RCV001430165; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661521236615212TA36615212-
NM_000536.4(RAG2):c.501A>C (p.Arg167Ser)5897RAG2Uncertain significancers1159686210RCV001062677|RCV001193857|RCV001274397; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MedGen:CN169374|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113661521836615218TG11:g.36615218T>G-
NM_000536.4(RAG2):c.497A>G (p.His166Arg)5897RAG2Uncertain significancers1851085524RCV001247916; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661522236615222TC11:g.36615222T>C-
NM_000536.4(RAG2):c.477C>T (p.Arg159=)5897RAG2Conflicting interpretations of pathogenicityrs141659100RCV000954539|RCV001175480|RCV001104350|RCV001104351; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MedGen:CN169374|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:60145113661524236615242GA11:g.36615242G>A-
NM_000536.4(RAG2):c.464T>A (p.Leu155His)5897RAG2Uncertain significancers1064793250RCV001346295; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661525536615255AT36615255-
NM_000536.4(RAG2):c.459T>C (p.Gly153=)5897RAG2Likely benignrs1406563782RCV000941075|RCV001427042; NMedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661526036615260AG11:g.36615260A>G-
NM_000536.4(RAG2):c.447G>A (p.Gly149=)5897RAG2Likely benign-1RCV001425371; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661527236615272CT36615272-
NM_000536.4(RAG2):c.443G>A (p.Arg148Gln)5897RAG2Uncertain significancers779879427RCV001243645; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661527636615276CT11:g.36615276C>T-
NM_000536.4(RAG2):c.442C>T (p.Arg148Ter)5897RAG2Pathogenic-1RCV001386499; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661527736615277GA36615277-
NM_000536.4(RAG2):c.435G>A (p.Val145=)5897RAG2Likely benign-1RCV001423161; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661528436615284CT36615284-
NM_000536.4(RAG2):c.434T>C (p.Val145Ala)5897RAG2Uncertain significancers1851090191RCV001321894; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661528536615285AG36615285-
NM_000536.4(RAG2):c.431T>C (p.Val144Ala)5897RAG2Uncertain significancers1851090348RCV001066542|RCV001274398; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113661528836615288AG11:g.36615288A>G-
NM_000536.4(RAG2):c.419A>G (p.His140Arg)5897RAG2Uncertain significancers1335036396RCV001046638; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661530036615300TC11:g.36615300T>C-
NM_000536.4(RAG2):c.417T>G (p.Gly139=)5897RAG2Likely benign-1RCV001478691; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661530236615302AC36615302-
NM_000536.4(RAG2):c.407C>T (p.Ala136Val)5897RAG2Uncertain significancers1851091277RCV001351305; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661531236615312GA36615312-
NM_000536.4(RAG2):c.396T>C (p.Asp132=)5897RAG2Likely benign-1RCV001410721; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661532336615323AG36615323-
NM_000536.4(RAG2):c.393A>C (p.Gly131=)5897RAG2Likely benign-1RCV001401698; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661532636615326TG36615326-
NM_000536.4(RAG2):c.385_389del (p.Leu129fs)5897RAG2Pathogenicrs1164927451RCV001224669; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661533036615334TACCAAT11:g.36615330_36615334del-
NM_000536.4(RAG2):c.369C>T (p.Arg123=)5897RAG2Likely benign-1RCV001418440; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661535036615350GA36615350-
NM_000536.4(RAG2):c.368G>A (p.Arg123His)5897RAG2Uncertain significancers144012817RCV000305600|RCV000393638|RCV000690526|RCV000763738|RCV001578808; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:33120113661535136615351CT11:g.36615351C>TClinGen:CA5950584
NM_000536.4(RAG2):c.367C>T (p.Arg123Cys)5897RAG2Conflicting interpretations of pathogenicityrs147319483RCV000874937|RCV001104352|RCV001104353|RCV001331313; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:3904113661535236615352GA11:g.36615352G>A-
NM_000536.4(RAG2):c.362C>T (p.Thr121Ile)5897RAG2Uncertain significancers764684990RCV001234029; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661535736615357GA11:g.36615357G>A-
NM_000536.4(RAG2):c.336T>C (p.Ile112=)5897RAG2Likely benign-1RCV001470352; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661538336615383AG36615383-
NM_000536.4(RAG2):c.326T>A (p.Val109Asp)5897RAG2Uncertain significancers201258007RCV001349510; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661539336615393AT36615393-
NM_000536.4(RAG2):c.312A>C (p.Ser104=)5897RAG2Likely benign-1RCV001393002; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661540736615407TG36615407-
NM_000536.4(RAG2):c.302del (p.Asn101fs)5897RAG2Likely pathogenic-1RCV001580771; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661541736615417ATA36615416-
NM_000536.4(RAG2):c.296C>G (p.Pro99Arg)5897RAG2Uncertain significancers747968724RCV001351747; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661542336615423GC36615423-
NM_000536.4(RAG2):c.293del (p.Thr98fs)5897RAG2Pathogenicrs1851096223RCV001041863; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661542636615426TGT11:g.36615426_36615426del-
NM_000536.4(RAG2):c.288G>A (p.Gly96=)5897RAG2Likely benignrs1312473059RCV000932984|RCV001492339; NMedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661543136615431CT11:g.36615431C>T-
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg)5897RAG2Pathogenic/Likely pathogenicrs36001797RCV000014014|RCV000671154|RCV001043887; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113661543636615436CT11:g.36615436C>TClinGen:CA122861,OMIM:179616.0005C2673536 233650 Combined cellular and humoral immune defects with granulomas;
NM_000536.4(RAG2):c.268C>G (p.Gln90Glu)5897RAG2Uncertain significance-1RCV001366243; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661545136615451GC36615451-
NM_000536.4(RAG2):c.265C>T (p.His89Tyr)5897RAG2Uncertain significancers918106600RCV001223618; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661545436615454GA11:g.36615454G>A-
NM_000536.4(RAG2):c.258T>C (p.Ser86=)5897RAG2Likely benign-1RCV001428097; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661546136615461AG36615461-
NM_000536.4(RAG2):c.243del (p.Gly82fs)5897RAG2Pathogenicrs1851098227RCV001063030; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661547636615476CTC11:g.36615476_36615476del-
NM_000536.4(RAG2):c.242A>G (p.Lys81Arg)5897RAG2Uncertain significancers777051349RCV000819676; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661547736615477TC11:g.36615477T>C-
NM_000536.4(RAG2):c.238T>A (p.Phe80Ile)5897RAG2Uncertain significancers762369105RCV001226095; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661548136615481AT11:g.36615481A>T-
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys)5897RAG2Likely pathogenicrs193922574RCV001059752|RCV001731320; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|Human Phenotype Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110, Orphanet:183660113661550236615502GA11:g.36615502G>AClinGen:CA214218C0085110 Severe combined immunodeficiency disease;
NM_000536.4(RAG2):c.213T>C (p.Pro71=)5897RAG2Likely benign-1RCV001450287; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661550636615506AG36615506-
NM_000536.4(RAG2):c.195T>C (p.Asp65=)5897RAG2Likely benign-1RCV001453058; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661552436615524AG36615524-
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr)5897RAG2Pathogenic/Likely pathogenicrs909264507RCV000489480|RCV000681576; NMedGen:CN517202|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0000573,MedGen:CN257931; MONDO:MONDO:0003778,MedGen:C0398686, Orphanet:101997113661552636615526CA11:g.36615526C>AClinGen:CA380144219CN517202 not provided;
NM_000536.4(RAG2):c.180A>G (p.Thr60=)5897RAG2Likely benignrs1345213365RCV000979376|RCV001433742; NMedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661553936615539TC11:g.36615539T>C-
NM_000536.4(RAG2):c.174G>A (p.Lys58=)5897RAG2Conflicting interpretations of pathogenicityrs202020106RCV001104355|RCV001104354|RCV001458719; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:15794113661554536615545CT11:g.36615545C>T-
NM_000536.4(RAG2):c.162T>C (p.His54=)5897RAG2Likely benign-1RCV001469971; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661555736615557AG36615557-
NM_000536.4(RAG2):c.157A>C (p.Asn53His)5897RAG2Uncertain significancers774097244RCV001240231; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661556236615562TG11:g.36615562T>G-
NM_000536.4(RAG2):c.141T>G (p.His47Gln)5897RAG2Uncertain significancers768914369RCV000265699|RCV000358071; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113661557836615578AC11:g.36615578A>CClinGen:CA5950618
NM_000536.4(RAG2):c.140A>T (p.His47Leu)5897RAG2Uncertain significancers776913146RCV000299706|RCV000356700; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113661557936615579TA11:g.36615579T>AClinGen:CA5950619
NM_000536.4(RAG2):c.125C>T (p.Pro42Leu)5897RAG2Uncertain significance-1RCV001367448; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661559436615594GA36615594-
NM_000536.4(RAG2):c.115A>G (p.Arg39Gly)5897RAG2Likely pathogenicrs121917897RCV000014017|RCV000014018|RCV000681573; NMedGen:C1867362|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0000573,MedGen:CN257931; MONDO:MONDO:0003778,MedGen:C0398686, Orphanet:101997; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661560436615604TC11:g.36615604T>CClinGen:CA122867,OMIM:179616.0008C1801959 603554 Histiocytic medullary reticulosis;
NM_000536.4(RAG2):c.104G>T (p.Gly35Val)5897RAG2Pathogenic/Likely pathogenicrs148508754RCV000681572|RCV001219165; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0000573,MedGen:CN257931; MONDO:MONDO:0003778,MedGen:C0398686, Orphanet:101997|MONDO:MONDO:0009306,MedGen:C2673536,OM113661561536615615CA11:g.36615615C>A-
NM_000536.4(RAG2):c.80A>G (p.Gln27Arg)5897RAG2Uncertain significancers1851105662RCV001325889; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661563936615639TC36615639-
NM_000536.4(RAG2):c.74A>G (p.Asp25Gly)5897RAG2Uncertain significancers1851105950RCV001107101|RCV001107102; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661564536615645TC11:g.36615645T>C-
NM_000536.4(RAG2):c.68A>G (p.Asn23Ser)5897RAG2Uncertain significancers751073669RCV000815023; NMONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661565136615651TC11:g.36615651T>C-
NM_000536.4(RAG2):c.63G>A (p.Leu21=)5897RAG2Conflicting interpretations of pathogenicityrs142797325RCV000259547|RCV000317157|RCV000898892; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:33120113661565636615656CT11:g.36615656C>TClinGen:CA5950627
NM_000536.4(RAG2):c.53G>T (p.Gly18Val)5897RAG2Uncertain significancers1851106893RCV001063225; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661566636615666CA11:g.36615666C>A-
NM_000536.4(RAG2):c.39C>A (p.Ala13=)5897RAG2Likely benignrs753764938RCV000980940|RCV001414530; NMedGen:CN517202|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661568036615680GT11:g.36615680G>T-
NM_000536.4(RAG2):c.35T>C (p.Ile12Thr)5897RAG2Uncertain significancers146584017RCV000695159; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949113661568436615684AG11:g.36615684A>G-
NM_000536.4(RAG2):c.22G>A (p.Val8Ile)5897RAG2Benign/Likely benignrs150762709RCV000277572|RCV000388047|RCV000645694|RCV001286951|RCV001705920; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206; MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:15794113661569736615697CT11:g.36615697C>TClinGen:CA293055
NM_000536.4(RAG2):c.14T>A (p.Met5Lys)5897RAG2Uncertain significancers143415103RCV000330271|RCV000689525|RCV001528918|RCV001731472; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650, Orphanet:157949; MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MedGen:CN517202|Human Phenotype Ontology:HP:0004430,MONDO:MOND113661570536615705AT11:g.36615705A>TClinGen:CA5950635
NM_000536.4(RAG2):c.-137T>C5897RAG2Benignrs73455545RCV000290428|RCV000347904|RCV001653498; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MedGen:CN517202113661976136619761AG11:g.36619761A>GClinGen:CA10638446
NM_000536.4(RAG2):c.-146G>T5897RAG2Uncertain significancers1851360292RCV001107774|RCV001107773; NMONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041113661977036619770CA11:g.36619770C>A-
NM_000536.4(RAG2):c.-151A>C5897RAG2Uncertain significancers886048273RCV000289435|RCV000381523; NMONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554, Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457, Orphanet:331206113661977536619775TG11:g.36619775T>GClinGen:CA10630853
MSeqDR Portal