MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Immunologic Deficiency Syndromes (D007153)
..Starting node
..expand
IMMUNODEFICIENCY 48 (OMIM:269840)

       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:6283
Name:IMMUNODEFICIENCY 48
Definition:
Alternative IDs:
ParentIDs:MESH:D007153
TreeNumbers:C20.673/269840
Synonyms:IMD48 |SELECTIVE T-CELL DEFECT |STCD
Slim Mappings:Immune system disease
Reference: MedGen: 269840
MeSH: 269840
OMIM: 269840;
MSeqDR LSDB:  
Genes: ZAP70;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002014Diarrhea
3 HP:0000976Eczematoid dermatitis
4 HP:0001508Failure to thrive
5 HP:0002240Hepatomegaly
6 HP:0003139Panhypogammaglobulinemia
7 HP:0002090Pneumonia
8 HP:0005401Recurrent candida infections
9 HP:0001744Splenomegaly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000002.12:g.97713558G>A7535ZAP70Uncertain significancers201824270RCV001137134; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129833002198330021GA2:g.98330021G>A-
NM_001079.4(ZAP70):c.-186C>A7535ZAP70Benignrs2276645RCV000357744|RCV001764308; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:CN51720229833005298330052CANC_000002.11:g.98330052C>AClinGen:CA10616595CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.-177C>A7535ZAP70Likely benignrs56408911RCV000267490; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129833006198330061CANC_000002.11:g.98330061C>AClinGen:CA10616495CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.-133C>T7535ZAP70Uncertain significancers201616095RCV000322861; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129833010598330105CTNC_000002.11:g.98330105C>TClinGen:CA10614269CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.-91T>A7535ZAP70Benignrs199757796RCV000354299; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129833038898330388TANC_000002.11:g.98330388T>AClinGen:CA10614682CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.-59T>C7535ZAP70Benignrs55637939RCV000319244; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129833042098330420TCNC_000002.11:g.98330420T>CClinGen:CA10616601CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.80C>A (p.Ala27Glu)7535ZAP70Uncertain significancers373708142RCV000800529|RCV001139372; NMedGen:C2931299|MONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129834057998340579CA2:g.98340579C>A-
NM_001079.4(ZAP70):c.105G>A (p.Leu35=)7535ZAP70Benignrs56127120RCV000374109|RCV000603288|RCV000527243; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:CN169374|MedGen:C293129929834060498340604GANC_000002.11:g.98340604G>AClinGen:CA1790018CN169374 not specified;
NM_001079.4(ZAP70):c.156C>T (p.His52=)7535ZAP70Conflicting interpretations of pathogenicityrs138447206RCV000293628|RCV000876759; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:C293129929834065598340655CTNC_000002.11:g.98340655C>TClinGen:CA1790026CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.199G>T (p.Gly67Cys)7535ZAP70Uncertain significancers745420613RCV001139373; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129834069898340698GT2:g.98340698G>T-
NM_001079.4(ZAP70):c.239C>A (p.Pro80Gln)7535ZAP70Uncertain significancers113994172RCV000032162|RCV001852638; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:C293129929834073898340738CA2:g.98340738C>AClinGen:CA343167C1837065 608957 Cd8 deficiency, familial;
NM_001079.4(ZAP70):c.403-3T>C7535ZAP70Uncertain significancers202193449RCV001047967|RCV001141987; NMedGen:C2931299|MONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129834155298341552TC2:g.98341552T>C-
NM_001079.4(ZAP70):c.447G>A (p.Val149=)7535ZAP70Benignrs61735392RCV000330002|RCV000542333; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:C293129929834159998341599GANC_000002.11:g.98341599G>AClinGen:CA1790097CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.467C>G (p.Thr156Arg)7535ZAP70Uncertain significancers1266171275RCV001141988; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129834161998341619CG2:g.98341619C>G-
NM_001079.4(ZAP70):c.474C>T (p.His158=)7535ZAP70Benign/Likely benignrs56404668RCV000889539|RCV001141989|RCV001269100; NMedGen:C2931299|MONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:CN16937429834162698341626CT2:g.98341626C>T-
NM_001079.4(ZAP70):c.512A>G (p.Glu171Gly)7535ZAP70Benign/Likely benignrs199631517RCV001141990|RCV001514782; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:C293129929834166498341664AG2:g.98341664A>G-
NM_001079.4(ZAP70):c.516G>A (p.Glu172=)7535ZAP70Uncertain significancers886056485RCV000389187; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129834166898341668GA2:g.98341668G>AClinGen:CA10616602CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.531T>C (p.Leu177=)7535ZAP70Benignrs115846138RCV000552712|RCV001141991; NMedGen:C2931299|MONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129834168398341683TCNC_000002.11:g.98341683T>CClinGen:CA1790112C1849236 269840 Severe combined immunodeficiency, atypical;
NM_001079.4(ZAP70):c.563+13C>G7535ZAP70Benignrs2289918RCV000126353|RCV000294932|RCV001510755; NMedGen:CN169374|MONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:C293129929834172898341728CG2:g.98341728C>GClinGen:CA291660CN169374 not specified;
NM_001079.4(ZAP70):c.574C>T (p.Arg192Trp)7535ZAP70Conflicting interpretations of pathogenicityrs199840952RCV000208562|RCV000227350|RCV001559120|RCV001853323; NHuman Phenotype Ontology:HP:0005387,MONDO:MONDO:0015131,MedGen:C2711630, Orphanet:101972|MONDO:MONDO:0014861,MedGen:C4310768,OMIM:617006|MONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:C293129929834935698349356CT2:g.98349356C>TClinGen:CA070999,UniProtKB:P43403#VAR_077137,OMIM:176947.0006C4310768 617006 Autoimmune disease, multisystem, infantile-onset, 2;
NM_001079.4(ZAP70):c.606C>T (p.Leu202=)7535ZAP70Conflicting interpretations of pathogenicityrs199943332RCV000345216|RCV002057724; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:C293129929834938898349388CT2:g.98349388C>TClinGen:CA1790152CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.655G>A (p.Gly219Ser)7535ZAP70Uncertain significancers200295650RCV001143801; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129834943798349437GA2:g.98349437G>A-
NM_001079.4(ZAP70):c.672C>T (p.Pro224=)7535ZAP70Benign/Likely benignrs56340622RCV000407147|RCV000531118|RCV001711955; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:C2931299|MedGen:CN51720229834945498349454CT2:g.98349454C>TClinGen:CA1790167CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.729G>A (p.Ala243=)7535ZAP70Conflicting interpretations of pathogenicityrs754793583RCV001143802|RCV002070732; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:C293129929834961498349614GA2:g.98349614G>A-
NM_001079.4(ZAP70):c.790+6G>A7535ZAP70Uncertain significancers200018109RCV001143803|RCV001858944; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:C293129929834968198349681GA2:g.98349681G>A-
NM_001079.4(ZAP70):c.810C>T (p.Leu270=)7535ZAP70Benign/Likely benignrs143181735RCV000291544|RCV000873145; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:C293129929834977998349779CT2:g.98349779C>TClinGen:CA1790243CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.828G>A (p.Thr276=)7535ZAP70Conflicting interpretations of pathogenicityrs200797733RCV000876626|RCV001143804; NMedGen:C2931299|MONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129834979798349797GA2:g.98349797G>A-
NM_001079.4(ZAP70):c.837+6T>C7535ZAP70Uncertain significancers199639189RCV000340630|RCV001217927; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:C293129929834981298349812TC2:g.98349812T>CClinGen:CA1790248CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.838-80G>A7535ZAP70Pathogenicrs113994173RCV000033937; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129834992798349927GA2:g.98349927G>AClinGen:CA343936C1849236 269840 Severe combined immunodeficiency, atypical;
NM_001079.4(ZAP70):c.920C>T (p.Pro307Leu)7535ZAP70Uncertain significancers201386206RCV001137244|RCV001856754; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:C293129929835101398351013CT2:g.98351013C>T-
NM_001079.4(ZAP70):c.939C>G (p.Ser313Arg)7535ZAP70Likely benignrs145218891RCV000876082|RCV001137245; NMedGen:C2931299|MONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129835103298351032CG2:g.98351032C>G-
NM_001079.4(ZAP70):c.981C>G (p.Asp327Glu)7535ZAP70Uncertain significancers201605654RCV000707711|RCV001137246; NMedGen:C2931299|MONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129835107498351074CGNC_000002.11:g.98351074C>G-C2931299 ZAP70-Related Severe Combined Immunodeficiency;
NM_001079.4(ZAP70):c.988C>T (p.Leu330Phe)7535ZAP70Uncertain significancers371574765RCV000815944|RCV001137247; NMedGen:C2931299|MONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129835108198351081CT2:g.98351081C>T-
NM_001079.4(ZAP70):c.1025T>C (p.Ile342Thr)7535ZAP70Conflicting interpretations of pathogenicityrs142702703RCV000548850|RCV000405371|RCV000596304; NMedGen:C2931299|MONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:CN51720229835111898351118TC2:g.98351118T>CClinGen:CA1790343CN169374 not specified;
NM_001079.4(ZAP70):c.1065C>T (p.Gly355=)7535ZAP70Pathogenic-1RCV001731179; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129835115898351158CT98351158-
NM_001079.4(ZAP70):c.1078C>T (p.Arg360Cys)7535ZAP70Uncertain significancers781463009RCV000788154|RCV001071941|RCV001137248; NMedGen:CN517202|MedGen:C2931299|MONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129835117198351171CT2:g.98351171C>T-
NM_001079.4(ZAP70):c.1079G>C (p.Arg360Pro)7535ZAP70Pathogenicrs869025224RCV000208547|RCV000233631|RCV001559121; NHuman Phenotype Ontology:HP:0005387,MONDO:MONDO:0015131,MedGen:C2711630, Orphanet:101972|MONDO:MONDO:0014861,MedGen:C4310768,OMIM:617006|MONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129835117298351172GCNC_000002.11:g.98351172G>CClinGen:CA352138,UniProtKB:P43403#VAR_077138,OMIM:176947.0007C4310768 617006 Autoimmune disease, multisystem, infantile-onset, 2;
NM_001079.4(ZAP70):c.1082+8C>T7535ZAP70Conflicting interpretations of pathogenicityrs55933862RCV000542141|RCV000768141|RCV001262573; NMedGen:C2931299|MONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911; MONDO:MONDO:0014861,MedGen:C4310768,OMIM:617006|MONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129835118398351183CTNC_000002.11:g.98351183C>TClinGen:CA1790351C1849236 269840 Severe combined immunodeficiency, atypical;
NM_001079.4(ZAP70):c.1083-3C>A7535ZAP70Uncertain significancers199890589RCV000305518; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129835171098351710CA2:g.98351710C>AClinGen:CA10614278CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.1289+10G>A7535ZAP70Conflicting interpretations of pathogenicityrs200538234RCV000647925|RCV001329565; NMedGen:C2931299|MONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129835192998351929GA2:g.98351929G>AClinGen:CA1790417C1849236 269840 Severe combined immunodeficiency, atypical;
NM_001079.4(ZAP70):c.1392C>A (p.Ala464=)7535ZAP70Conflicting interpretations of pathogenicityrs1289751768RCV001137249|RCV002070603; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:C293129929835403898354038CA2:g.98354038C>A-
NM_001079.4(ZAP70):c.1393C>T (p.Arg465Cys)7535ZAP70Pathogenicrs113994174RCV000032160; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129835403998354039CT2:g.98354039C>TClinGen:CA343162,UniProtKB:P43403#VAR_065624C1849236 269840 Severe combined immunodeficiency, atypical;
NM_001079.4(ZAP70):c.1394G>A (p.Arg465His)7535ZAP70Uncertain significancers137853201RCV000033214|RCV001305022; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:C293129929835404098354040GA2:g.98354040G>AClinGen:CA261254,UniProtKB:P43403#VAR_015538,OMIM:176947.0005C1849236 269840 Severe combined immunodeficiency, atypical;
NM_001079.4(ZAP70):c.1467C>T (p.Asp489=)7535ZAP70Conflicting interpretations of pathogenicityrs55997284RCV000440355|RCV000647921|RCV001139497|RCV001702779; NMedGen:CN169374|MedGen:C2931299|MONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:CN51720229835411398354113CT2:g.98354113C>TClinGen:CA1790463CN169374 not specified;
NM_001079.4(ZAP70):c.1482+11G>T7535ZAP70Benignrs17488834RCV000126354|RCV000360286|RCV001514777; NMedGen:CN169374|MONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:C293129929835413998354139GT2:g.98354139G>TClinGen:CA291661CN169374 not specified;
NM_001079.4(ZAP70):c.1510_1522del (p.Lys504fs)7535ZAP70Pathogenicrs730880319RCV000014164; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129835424698354258TCAAGTGGTACGCATNC_000002.11:g.98354247_98354259delClinGen:CA256744,OMIM:176947.0004C1849236 269840 Severe combined immunodeficiency, atypical;
NM_001079.4(ZAP70):c.1554C>A (p.Ser518Arg)7535ZAP70Pathogenicrs104893674RCV000033208; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129835429198354291CA2:g.98354291C>AClinGen:CA261252,UniProtKB:P43403#VAR_006351,OMIM:176947.0003C1849236 269840 Severe combined immunodeficiency, atypical;
NM_001079.4(ZAP70):c.1617C>T (p.Pro539=)7535ZAP70Conflicting interpretations of pathogenicityrs189807102RCV000404835|RCV001412237; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:C293129929835435498354354CT2:g.98354354C>TClinGen:CA1790505CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.1624-12C>T7535ZAP70Conflicting interpretations of pathogenicityrs201487332RCV001139498|RCV001712857|RCV002070658; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:CN517202|MedGen:C293129929835444698354446CT2:g.98354446C>T-
NM_001079.4(ZAP70):c.1624-11G>A7535ZAP70Pathogenicrs730880318RCV000014158|RCV000726208|RCV001851845; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:CN517202|MedGen:C293129929835444798354447GANC_000002.11:g.98354447G>AClinGen:CA256743,OMIM:176947.0001,OMIM:176947.0002C1849236 269840 Severe combined immunodeficiency, atypical;
NM_001079.4(ZAP70):c.1645A>G (p.Met549Val)7535ZAP70Uncertain significancers150950017RCV000297141|RCV001055985|RCV001508451; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:C2931299|MedGen:CN51720229835447998354479AG2:g.98354479A>GClinGen:CA1790529CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.1656C>T (p.Ile552=)7535ZAP70Conflicting interpretations of pathogenicityrs150096962RCV000553616|RCV001139499|RCV001702677; NMedGen:C2931299|MONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:CN51720229835449098354490CT2:g.98354490C>TClinGen:CA1790532C1849236 269840 Severe combined immunodeficiency, atypical;
NM_001079.4(ZAP70):c.1677G>A (p.Glu559=)7535ZAP70Benignrs3192177RCV000126355|RCV000356778|RCV001514778|RCV001824626; NMedGen:CN169374|MONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:C2931299|MedGen:CN51720229835451198354511GA2:g.98354511G>AClinGen:CA291662CN169374 not specified;
NM_001079.4(ZAP70):c.1714A>T (p.Met572Leu)7535ZAP70Pathogenicrs113994175RCV000032161; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129835454898354548AT2:g.98354548A>TClinGen:CA343164C1837065 608957 Cd8 deficiency, familial;
NM_001079.4(ZAP70):c.1737-7C>T7535ZAP70Uncertain significancers1573292727RCV001139500; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129835583198355831CT2:g.98355831C>T-
NM_001079.4(ZAP70):c.1737-3C>T7535ZAP70Conflicting interpretations of pathogenicityrs56249179RCV000261970|RCV000527470|RCV001553701; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:C2931299|MedGen:CN16937429835583598355835CT2:g.98355835C>TClinGen:CA1790565CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.1832C>T (p.Thr611Ile)7535ZAP70Uncertain significancers371359430RCV000330929|RCV000796429; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:C293129929835593398355933CT2:g.98355933C>TClinGen:CA1790585CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.*11C>A7535ZAP70Uncertain significancers200035333RCV001140262; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129835597298355972CA2:g.98355972C>A-
NM_001079.4(ZAP70):c.*29G>A7535ZAP70Benignrs11678558RCV000366961|RCV001613101; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:CN51720229835599098355990GA2:g.98355990G>AClinGen:CA1790598CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.*48C>T7535ZAP70Uncertain significancers1411918610RCV001140263; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129835600998356009CT2:g.98356009C>T-
NM_001079.4(ZAP70):c.*161G>A7535ZAP70Uncertain significancers886056486RCV000276899; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129835612298356122GA2:g.98356122G>AClinGen:CA10616604CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.*228G>A7535ZAP70Uncertain significancers199863225RCV001140264; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129835618998356189GA2:g.98356189G>A-
NM_001079.4(ZAP70):c.*274G>A7535ZAP70Uncertain significancers55721260RCV001140265; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129835623598356235GA2:g.98356235G>A-
NM_001079.4(ZAP70):c.*289G>C7535ZAP70Benignrs2278699RCV000331946|RCV001618594; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:911|MedGen:CN51720229835625098356250GC2:g.98356250G>CClinGen:CA10616502CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.*328C>T7535ZAP70Uncertain significancers201790312RCV000382112; NMONDO:MONDO:0010023,MedGen:C4274666,OMIM:269840, Orphanet:91129835628998356289CT2:g.98356289C>TClinGen:CA10616504CN239264 Severe Combined Immune Deficiency;
MSeqDR Portal