ZAP70 (zeta chain of T cell receptor associated protein kinase 70) - Rat Genome Database

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Gene: ZAP70 (zeta chain of T cell receptor associated protein kinase 70) Homo sapiens
Analyze
Symbol: ZAP70
Name: zeta chain of T cell receptor associated protein kinase 70
RGD ID: 1349191
HGNC Page HGNC:12858
Description: Enables non-membrane spanning protein tyrosine kinase activity and phosphotyrosine residue binding activity. Involved in T cell receptor signaling pathway and immune response. Acts upstream of or within positive regulation of T cell differentiation and positive thymic T cell selection. Located in membrane raft and plasma membrane. Part of T cell receptor complex. Implicated in immunodeficiency 48 and severe combined immunodeficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 70 kDa zeta-associated protein; 70 kDa zeta-chain associated protein; ADMIO2; FLJ17670; FLJ17679; IMD48; SRK; STCD; STD; syk-related tyrosine kinase; tyrosine-protein kinase ZAP-70; TZK; ZAP-70; zeta chain of T cell receptor associated protein kinase 70kDa; zeta chain of T-cell receptor associated protein kinase 70; zeta-chain (TCR) associated protein kinase 70kDa; zeta-chain associated protein kinase, 70kD
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38297,713,576 - 97,756,364 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl297,713,576 - 97,739,862 (+)EnsemblGRCh38hg38GRCh38
GRCh37298,330,039 - 98,356,323 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36297,696,463 - 97,722,755 (+)NCBINCBI36Build 36hg18NCBI36
Build 34297,809,386 - 97,814,841NCBI
Celera292,533,995 - 92,560,286 (+)NCBICelera
Cytogenetic Map2q11.2NCBI
HuRef292,095,689 - 92,121,947 (+)NCBIHuRef
CHM1_1298,334,370 - 98,360,661 (+)NCBICHM1_1
T2T-CHM13v2.0298,171,200 - 98,202,543 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,4,7,8-Pentachlorodibenzofuran  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-amino-4,6-dinitrotoluene  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucose  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
cadmium dichloride  (ISO)
calciol  (ISO)
camptothecin  (EXP)
carbon nanotube  (ISO)
cerium trichloride  (ISO)
CGP 52608  (EXP)
chromium(6+)  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
cyclophosphamide  (ISO)
D-glucose  (ISO)
dexamethasone  (ISO)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
dimethylarsinic acid  (ISO)
disodium selenite  (EXP)
entinostat  (EXP)
fructose  (ISO)
fulvestrant  (EXP)
fumonisin B1  (ISO)
furan  (ISO)
gentamycin  (ISO)
glucose  (ISO)
inulin  (ISO)
lead diacetate  (ISO)
methylarsonic acid  (ISO)
N-ethyl-N-nitrosourea  (ISO)
nevirapine  (ISO)
nickel atom  (EXP)
oxaliplatin  (ISO)
paracetamol  (EXP,ISO)
perfluorohexanesulfonic acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
phenytoin  (ISO)
pirinixic acid  (ISO)
silicon dioxide  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
tert-butyl hydroperoxide  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
valproic acid  (EXP,ISO)
vanadium atom  (EXP)
vanadium(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal B cell count  (IAGP)
Abnormal lymph node morphology  (IAGP)
Abnormal natural killer cell count  (IAGP)
Absence of CD8-positive T cells  (IAGP)
Autoimmune hemolytic anemia  (IAGP)
Autoimmune thrombocytopenia  (IAGP)
Autoimmunity  (IAGP)
Autosomal recessive inheritance  (IAGP)
Chronic diarrhea  (IAGP)
Chronic mucocutaneous candidiasis  (IAGP)
Chronic oral candidiasis  (IAGP)
Colitis  (IAGP)
Combined immunodeficiency  (IAGP)
Decreased lymphocyte proliferation in response to mitogen  (IAGP)
Decreased proportion of CD8-positive T cells  (IAGP)
Decreased specific pneumococcal antibody level  (IAGP)
Diarrhea  (IAGP)
Eczematoid dermatitis  (IAGP)
Eosinophilia  (IAGP)
Esophageal atresia  (IAGP)
Failure to thrive  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
Impaired lymphocyte transformation with phytohemagglutinin  (IAGP)
Increased CD4:CD8 ratio  (IAGP)
Infantile onset  (IAGP)
Linear IgG deposits along the epidermal basement membrane zone  (IAGP)
Lymphadenitis  (IAGP)
Lymphadenopathy  (IAGP)
Lymphocytosis  (IAGP)
Lymphoma  (IAGP)
Lymphoproliferative disorder  (IAGP)
Minimal change glomerulonephritis  (IAGP)
Nephrotic syndrome  (IAGP)
Panhypogammaglobulinemia  (IAGP)
Pneumonia  (IAGP)
Podocyte foot process effacement  (IAGP)
Proteinuria  (IAGP)
Recurrent bacterial infections  (IAGP)
Recurrent bacterial skin infections  (IAGP)
Recurrent candida infections  (IAGP)
Recurrent infection of the gastrointestinal tract  (IAGP)
Recurrent mycobacterial infections  (IAGP)
Recurrent opportunistic infections  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent upper and lower respiratory tract infections  (IAGP)
Recurrent viral infections  (IAGP)
Severe combined immunodeficiency  (IAGP)
Skin rash  (IAGP)
Splenomegaly  (IAGP)
Stomatitis  (IAGP)
Stroke  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Defective T cell receptor signaling and CD8+ thymic selection in humans lacking zap-70 kinase. Arpaia E, etal., Cell. 1994 Mar 11;76(5):947-58.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1423621   PMID:7509083   PMID:7522245   PMID:7528772   PMID:7539035   PMID:7629168   PMID:7630421   PMID:7737297   PMID:7760813   PMID:7761456   PMID:7798261   PMID:7819147  
PMID:7961936   PMID:8082894   PMID:8176201   PMID:8202712   PMID:8202713   PMID:8235613   PMID:8366117   PMID:8530437   PMID:8613493   PMID:8621646   PMID:8638162   PMID:8647168  
PMID:8648092   PMID:8702662   PMID:8756661   PMID:8761298   PMID:8798643   PMID:8901551   PMID:8906806   PMID:8943371   PMID:9036949   PMID:9047237   PMID:9169414   PMID:9185620  
PMID:9269777   PMID:9362531   PMID:9378960   PMID:9403695   PMID:9407100   PMID:9464824   PMID:9489702   PMID:9490415   PMID:9685404   PMID:9698567   PMID:9813084   PMID:9846481  
PMID:9988730   PMID:10037717   PMID:10074432   PMID:10078535   PMID:10209036   PMID:10221598   PMID:10318843   PMID:10419455   PMID:10449770   PMID:10458769   PMID:10556826   PMID:10660534  
PMID:10704231   PMID:10752619   PMID:10779765   PMID:10790433   PMID:10867021   PMID:10966114   PMID:10979964   PMID:11048639   PMID:11133830   PMID:11279207   PMID:11353765   PMID:11368773  
PMID:11390470   PMID:11412303   PMID:11572860   PMID:11781312   PMID:11855827   PMID:11891219   PMID:11964272   PMID:11976341   PMID:12051764   PMID:12084069   PMID:12150984   PMID:12154360  
PMID:12165490   PMID:12186560   PMID:12190313   PMID:12359715   PMID:12387734   PMID:12393534   PMID:12447358   PMID:12450381   PMID:12477932   PMID:12504004   PMID:12522270   PMID:12595313  
PMID:12646565   PMID:12648457   PMID:12778467   PMID:12817019   PMID:12847255   PMID:14523017   PMID:14557276   PMID:14560012   PMID:14672952   PMID:14766232   PMID:14985102   PMID:15059847  
PMID:15084271   PMID:15100278   PMID:15133473   PMID:15143214   PMID:15144186   PMID:15190462   PMID:15292186   PMID:15358536   PMID:15370248   PMID:15489334   PMID:15514014   PMID:15536084  
PMID:15588985   PMID:15592455   PMID:15688026   PMID:15699074   PMID:15735648   PMID:15759031   PMID:15800671   PMID:15832366   PMID:15856008   PMID:15861514   PMID:15923611   PMID:15972449  
PMID:15996927   PMID:16079094   PMID:16079107   PMID:16094384   PMID:16096284   PMID:16219325   PMID:16263570   PMID:16273093   PMID:16291755   PMID:16300468   PMID:16339550   PMID:16406604  
PMID:16412387   PMID:16418492   PMID:16461343   PMID:16467082   PMID:16467851   PMID:16503409   PMID:16538501   PMID:16642047   PMID:16823829   PMID:16888650   PMID:16906159   PMID:16932341  
PMID:17038529   PMID:17051526   PMID:17192257   PMID:17215865   PMID:17222799   PMID:17375875   PMID:17492476   PMID:17512407   PMID:17534928   PMID:17577788   PMID:17652306   PMID:17702857  
PMID:17767948   PMID:17785822   PMID:17926183   PMID:17931624   PMID:17948236   PMID:18005690   PMID:18022252   PMID:18025306   PMID:18029348   PMID:18048647   PMID:18190465   PMID:18203013  
PMID:18311544   PMID:18322442   PMID:18333847   PMID:18424730   PMID:18519230   PMID:18577710   PMID:18616755   PMID:18683785   PMID:18687687   PMID:18689273   PMID:18757853   PMID:18770822  
PMID:18770856   PMID:18818202   PMID:18854088   PMID:19018007   PMID:19021053   PMID:19050243   PMID:19136305   PMID:19230824   PMID:19267204   PMID:19297020   PMID:19298946   PMID:19377082  
PMID:19454010   PMID:19575876   PMID:19679010   PMID:19710135   PMID:19727816   PMID:19826250   PMID:19843936   PMID:19907441   PMID:19920178   PMID:19944462   PMID:20001236   PMID:20014315  
PMID:20029467   PMID:20056178   PMID:20132303   PMID:20135127   PMID:20145264   PMID:20164537   PMID:20228263   PMID:20301777   PMID:20488542   PMID:20534575   PMID:20575031   PMID:20637659  
PMID:20657554   PMID:20702582   PMID:20842205   PMID:20864151   PMID:20890395   PMID:21055809   PMID:21079155   PMID:21200022   PMID:21205967   PMID:21344162   PMID:21453975   PMID:21463115  
PMID:21607290   PMID:21716207   PMID:21725281   PMID:21832049   PMID:21856938   PMID:21873635   PMID:21887278   PMID:21945028   PMID:21957439   PMID:21988832   PMID:22002134   PMID:22151263  
PMID:22171799   PMID:22207134   PMID:22242145   PMID:22266821   PMID:22338471   PMID:22362302   PMID:22564988   PMID:22664044   PMID:22732588   PMID:22802418   PMID:22839722   PMID:22844345  
PMID:22888118   PMID:22965421   PMID:22971532   PMID:22973453   PMID:22984268   PMID:22993420   PMID:23097993   PMID:23124046   PMID:23227982   PMID:23245794   PMID:23267066   PMID:23293025  
PMID:23406209   PMID:23460737   PMID:23514740   PMID:23530057   PMID:23572149   PMID:23620790   PMID:23686733   PMID:23786282   PMID:23916875   PMID:23981382   PMID:24103478   PMID:24127306  
PMID:24164480   PMID:24166938   PMID:24204825   PMID:24219331   PMID:24229420   PMID:24312539   PMID:24369212   PMID:24658140   PMID:24728074   PMID:24868078   PMID:25124785   PMID:25287889  
PMID:25402006   PMID:25448703   PMID:25513989   PMID:25661802   PMID:25735979   PMID:25743836   PMID:25804237   PMID:25990959   PMID:26002513   PMID:26139098   PMID:26187144   PMID:26245723  
PMID:26246585   PMID:26306999   PMID:26376785   PMID:26390156   PMID:26508782   PMID:26620225   PMID:26783323   PMID:26811477   PMID:26936881   PMID:27052731   PMID:27185377   PMID:27384937  
PMID:27574848   PMID:27686375   PMID:27700984   PMID:27718514   PMID:27748274   PMID:27869819   PMID:28124082   PMID:28415650   PMID:28767218   PMID:28846922   PMID:28912049   PMID:28947822  
PMID:29053960   PMID:29146547   PMID:29263215   PMID:29440413   PMID:29513927   PMID:29589978   PMID:29680229   PMID:29684201   PMID:30692994   PMID:30824760   PMID:30863395   PMID:30992398  
PMID:31337738   PMID:31400229   PMID:31449923   PMID:31551363   PMID:31659016   PMID:31980649   PMID:32393512   PMID:32431715   PMID:33184721   PMID:33482200   PMID:33531381   PMID:33619528  
PMID:33644029   PMID:33848699   PMID:33878293   PMID:34373451   PMID:34394081   PMID:34601763   PMID:34623322   PMID:34742736   PMID:35058288   PMID:35077445   PMID:35197288   PMID:35398488  
PMID:35477402   PMID:36078131   PMID:36205741   PMID:36495335   PMID:37313400   PMID:37853951   PMID:37953318  


Genomics

Comparative Map Data
ZAP70
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38297,713,576 - 97,756,364 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl297,713,576 - 97,739,862 (+)EnsemblGRCh38hg38GRCh38
GRCh37298,330,039 - 98,356,323 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36297,696,463 - 97,722,755 (+)NCBINCBI36Build 36hg18NCBI36
Build 34297,809,386 - 97,814,841NCBI
Celera292,533,995 - 92,560,286 (+)NCBICelera
Cytogenetic Map2q11.2NCBI
HuRef292,095,689 - 92,121,947 (+)NCBIHuRef
CHM1_1298,334,370 - 98,360,661 (+)NCBICHM1_1
T2T-CHM13v2.0298,171,200 - 98,202,543 (+)NCBIT2T-CHM13v2.0
Zap70
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39136,800,912 - 36,821,899 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl136,800,879 - 36,821,899 (+)EnsemblGRCm39 Ensembl
GRCm38136,761,798 - 36,782,821 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl136,761,798 - 36,782,818 (+)EnsemblGRCm38mm10GRCm38
MGSCv37136,818,706 - 36,839,661 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36136,706,407 - 36,727,362 (+)NCBIMGSCv36mm8
Celera136,542,193 - 36,563,340 (+)NCBICelera
Cytogenetic Map1BNCBI
cM Map115.41NCBI
Zap70
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8946,485,605 - 46,507,552 (+)NCBIGRCr8
mRatBN7.2938,989,750 - 39,011,701 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl938,989,750 - 39,011,700 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx947,492,671 - 47,514,535 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0952,608,543 - 52,630,495 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0950,890,437 - 50,912,386 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0943,331,149 - 43,353,097 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl943,331,155 - 43,353,113 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0942,980,050 - 43,002,015 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4935,693,089 - 35,715,071 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera936,755,106 - 36,777,088 (+)NCBICelera
Cytogenetic Map9q21NCBI
Zap70
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554704,386,311 - 4,396,419 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554704,379,260 - 4,397,851 (+)NCBIChiLan1.0ChiLan1.0
LOC100971372
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21230,715,251 - 30,745,868 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A30,718,013 - 30,748,630 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A101,582,567 - 101,613,175 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A98,613,740 - 98,639,742 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A98,613,740 - 98,639,088 (+)Ensemblpanpan1.1panPan2
ZAP70
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11044,887,416 - 44,913,845 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1044,887,433 - 44,900,071 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1044,814,558 - 44,845,740 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01045,763,554 - 45,794,709 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1045,763,556 - 45,786,952 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11045,475,442 - 45,506,585 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01045,761,536 - 45,792,714 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01045,944,828 - 45,975,965 (-)NCBIUU_Cfam_GSD_1.0
LOC101971458
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629283,747,123 - 83,759,795 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367441,000,105 - 1,012,433 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367441,000,105 - 1,012,712 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZAP70
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl356,515,449 - 56,541,740 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1356,515,446 - 56,541,806 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2359,135,457 - 59,151,701 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103241092
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1141,403,294 - 1,430,205 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl141,404,325 - 1,431,015 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041168,846,354 - 168,873,240 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
LOC101716577
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247492,893,601 - 2,901,035 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247492,893,601 - 2,901,256 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

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Variants in ZAP70
383 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001079.4(ZAP70):c.1155C>T (p.Arg385=) single nucleotide variant Severe combined immunodeficiency disease [RCV000030598]|ZAP70-Related Severe Combined Immunodeficiency [RCV001852608] Chr2:97735322 [GRCh38]
Chr2:98351785 [GRCh37]
Chr2:2q11.2
likely benign|uncertain significance
NM_001079.4(ZAP70):c.1393C>T (p.Arg465Cys) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000032160] Chr2:97737576 [GRCh38]
Chr2:98354039 [GRCh37]
Chr2:2q11.2
pathogenic|not provided
NM_001079.4(ZAP70):c.1714A>T (p.Met572Leu) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000032161] Chr2:97738085 [GRCh38]
Chr2:98354548 [GRCh37]
Chr2:2q11.2
pathogenic|not provided
NM_001079.4(ZAP70):c.239C>A (p.Pro80Gln) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000032162]|ZAP70-Related Severe Combined Immunodeficiency [RCV001852638] Chr2:97724275 [GRCh38]
Chr2:98340738 [GRCh37]
Chr2:2q11.2
pathogenic|uncertain significance|not provided
NM_001079.4(ZAP70):c.1554C>A (p.Ser518Arg) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000033208] Chr2:97737828 [GRCh38]
Chr2:98354291 [GRCh37]
Chr2:2q11.2
pathogenic
NM_001079.4(ZAP70):c.1394G>A (p.Arg465His) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000033214]|ZAP70-Related Severe Combined Immunodeficiency [RCV001305022] Chr2:97737577 [GRCh38]
Chr2:98354040 [GRCh37]
Chr2:2q11.2
pathogenic|uncertain significance
NM_001079.4(ZAP70):c.838-80G>A single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000033937] Chr2:97733464 [GRCh38]
Chr2:98349927 [GRCh37]
Chr2:2q11.2
pathogenic|not provided
NM_001079.4(ZAP70):c.1624-11G>A single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000014158]|ZAP70-Related Severe Combined Immunodeficiency [RCV001851845]|ZAP70-related condition [RCV003390681]|not provided [RCV000726208] Chr2:97737984 [GRCh38]
Chr2:98354447 [GRCh37]
Chr2:2q11.2
pathogenic
ZAP70, IVS, G-A, -9 single nucleotide variant Severe combined immunodeficiency, atypical [RCV000014160] Chr2:2q12 pathogenic
NM_001079.4(ZAP70):c.1510_1522del (p.Lys504fs) deletion Combined immunodeficiency due to ZAP70 deficiency [RCV000014164] Chr2:97737783..97737795 [GRCh38]
Chr2:98354246..98354258 [GRCh37]
Chr2:2q11.2
pathogenic
NM_001079.4(ZAP70):c.3G>T (p.Met1Ile) single nucleotide variant not provided [RCV000722857] Chr2:97724039 [GRCh38]
Chr2:98340502 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.786C>T (p.Ala262=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000546021] Chr2:97733208 [GRCh38]
Chr2:98349671 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1082+8C>T single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000768141]|Combined immunodeficiency due to ZAP70 deficiency [RCV001262573]|ZAP70-Related Severe Combined Immunodeficiency [RCV000542141] Chr2:97734720 [GRCh38]
Chr2:98351183 [GRCh37]
Chr2:2q11.2
benign|likely benign|uncertain significance
GRCh38/hg38 2q11.2(chr2:97634165-97841153)x3 copy number gain See cases [RCV000052667] Chr2:97634165..97841153 [GRCh38]
Chr2:98250628..98457616 [GRCh37]
Chr2:97617060..97824048 [NCBI36]
Chr2:2q11.2
uncertain significance
GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3 copy number gain See cases [RCV000052946] Chr2:94817406..103252396 [GRCh38]
Chr2:95618109..103868854 [GRCh37]
Chr2:94846878..103235286 [NCBI36]
Chr2:2q11.1-12.1
pathogenic
GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3 copy number gain See cases [RCV000052947] Chr2:97672522..110211318 [GRCh38]
Chr2:98288985..110968895 [GRCh37]
Chr2:97655417..110326184 [NCBI36]
Chr2:2q11.2-13
pathogenic
GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3 copy number gain See cases [RCV000052945] Chr2:91443218..102334856 [GRCh38]
Chr2:91617683..102951316 [GRCh37]
Chr2:90981410..102317748 [NCBI36]
Chr2:2p11.2-q11.2
pathogenic
NM_001079.4(ZAP70):c.563+13C>G single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000294932]|ZAP70-Related Severe Combined Immunodeficiency [RCV001510755]|not specified [RCV000126353] Chr2:97725265 [GRCh38]
Chr2:98341728 [GRCh37]
Chr2:2q11.2
benign
NM_001079.4(ZAP70):c.1482+11G>T single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000360286]|ZAP70-Related Severe Combined Immunodeficiency [RCV001514777]|not specified [RCV000126354] Chr2:97737676 [GRCh38]
Chr2:98354139 [GRCh37]
Chr2:2q11.2
benign
NM_001079.4(ZAP70):c.1677G>A (p.Glu559=) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000356778]|ZAP70-Related Severe Combined Immunodeficiency [RCV001514778]|not provided [RCV001824626]|not specified [RCV000126355] Chr2:97738048 [GRCh38]
Chr2:98354511 [GRCh37]
Chr2:2q11.2
benign|not provided
GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3 copy number gain See cases [RCV000138012] Chr2:95337458..99072953 [GRCh38]
Chr2:96003206..99689416 [GRCh37]
Chr2:95366933..99055848 [NCBI36]
Chr2:2q11.1-11.2
uncertain significance
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 copy number gain See cases [RCV000141075] Chr2:94678532..110602409 [GRCh38]
Chr2:95344257..111359986 [GRCh37]
Chr2:94707984..111076455 [NCBI36]
Chr2:2q11.1-13
pathogenic
GRCh38/hg38 2q11.2(chr2:97422165-98203456)x3 copy number gain See cases [RCV000143678] Chr2:97422165..98203456 [GRCh38]
Chr2:98017406..98819919 [GRCh37]
Chr2:97383545..98186351 [NCBI36]
Chr2:2q11.2
likely benign|uncertain significance
NM_001079.4(ZAP70):c.1737-3C>T single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000261970]|ZAP70-Related Severe Combined Immunodeficiency [RCV000527470]|not specified [RCV001553701] Chr2:97739372 [GRCh38]
Chr2:98355835 [GRCh37]
Chr2:2q11.2
benign|uncertain significance
NM_001079.4(ZAP70):c.-81T>G single nucleotide variant Severe combined immunodeficiency disease [RCV001731615] Chr2:97713935 [GRCh38]
Chr2:98330398 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1079G>C (p.Arg360Pro) single nucleotide variant Autoimmune disease, multisystem, infantile-onset, 2 [RCV000233631]|Combined immunodeficiency [RCV000208547]|Combined immunodeficiency due to ZAP70 deficiency [RCV001559121] Chr2:97734709 [GRCh38]
Chr2:98351172 [GRCh37]
Chr2:2q11.2
pathogenic|not provided
NM_001079.4(ZAP70):c.574C>T (p.Arg192Trp) single nucleotide variant Autoimmune disease, multisystem, infantile-onset, 2 [RCV000227350]|Combined immunodeficiency [RCV000208562]|Combined immunodeficiency due to ZAP70 deficiency [RCV001559120]|ZAP70-Related Severe Combined Immunodeficiency [RCV001853323] Chr2:97732893 [GRCh38]
Chr2:98349356 [GRCh37]
Chr2:2q11.2
pathogenic|likely pathogenic|uncertain significance|not provided
NM_001079.4(ZAP70):c.-177C>A single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000267490] Chr2:97713598 [GRCh38]
Chr2:98330061 [GRCh37]
Chr2:2q11.2
likely benign|uncertain significance
NM_001079.4(ZAP70):c.105G>A (p.Leu35=) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000374109]|ZAP70-Related Severe Combined Immunodeficiency [RCV000527243]|not specified [RCV000603288] Chr2:97724141 [GRCh38]
Chr2:98340604 [GRCh37]
Chr2:2q11.2
benign|likely benign
NM_001079.4(ZAP70):c.-91T>A single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000354299] Chr2:97713925 [GRCh38]
Chr2:98330388 [GRCh37]
Chr2:2q11.2
benign|uncertain significance
NM_001079.4(ZAP70):c.-186C>A single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000357744]|not provided [RCV001764308] Chr2:97713589 [GRCh38]
Chr2:98330052 [GRCh37]
Chr2:2q11.2
benign
NM_001079.4(ZAP70):c.-59T>C single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000319244] Chr2:97713957 [GRCh38]
Chr2:98330420 [GRCh37]
Chr2:2q11.2
benign|likely benign
NM_001079.4(ZAP70):c.1617C>T (p.Pro539=) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000404835]|ZAP70-Related Severe Combined Immunodeficiency [RCV001412237] Chr2:97737891 [GRCh38]
Chr2:98354354 [GRCh37]
Chr2:2q11.2
likely benign|uncertain significance
NM_001079.4(ZAP70):c.*328C>T single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000382112] Chr2:97739826 [GRCh38]
Chr2:98356289 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1025T>C (p.Ile342Thr) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000405371]|ZAP70-Related Severe Combined Immunodeficiency [RCV000548850]|not provided [RCV000596304]|not specified [RCV003226285] Chr2:97734655 [GRCh38]
Chr2:98351118 [GRCh37]
Chr2:2q11.2
likely benign|uncertain significance
NM_001079.4(ZAP70):c.1083-3C>A single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000305518] Chr2:97735247 [GRCh38]
Chr2:98351710 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.837+6T>C single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000340630]|ZAP70-Related Severe Combined Immunodeficiency [RCV001217927] Chr2:97733349 [GRCh38]
Chr2:98349812 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.672C>T (p.Pro224=) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000407147]|ZAP70-Related Severe Combined Immunodeficiency [RCV000531118]|not provided [RCV001711955] Chr2:97732991 [GRCh38]
Chr2:98349454 [GRCh37]
Chr2:2q11.2
benign|likely benign
NM_001079.4(ZAP70):c.810C>T (p.Leu270=) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000291544]|ZAP70-Related Severe Combined Immunodeficiency [RCV000873145] Chr2:97733316 [GRCh38]
Chr2:98349779 [GRCh37]
Chr2:2q11.2
benign|likely benign|uncertain significance
NM_001079.4(ZAP70):c.-133C>T single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000322861] Chr2:97713642 [GRCh38]
Chr2:98330105 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.156C>T (p.His52=) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000293628]|ZAP70-Related Severe Combined Immunodeficiency [RCV000876759] Chr2:97724192 [GRCh38]
Chr2:98340655 [GRCh37]
Chr2:2q11.2
benign|uncertain significance
NM_001079.4(ZAP70):c.606C>T (p.Leu202=) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000345216]|ZAP70-Related Severe Combined Immunodeficiency [RCV002057724] Chr2:97732925 [GRCh38]
Chr2:98349388 [GRCh37]
Chr2:2q11.2
likely benign|uncertain significance
NM_001079.4(ZAP70):c.*29G>A single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000366961]|not provided [RCV001613101]|not specified [RCV003401360] Chr2:97739527 [GRCh38]
Chr2:98355990 [GRCh37]
Chr2:2q11.2
benign
NM_001079.4(ZAP70):c.1645A>G (p.Met549Val) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000297141]|Combined immunodeficiency due to ZAP70 deficiency [RCV002504136]|ZAP70-Related Severe Combined Immunodeficiency [RCV001055985]|not provided [RCV001508451] Chr2:97738016 [GRCh38]
Chr2:98354479 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.447G>A (p.Val149=) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000330002]|ZAP70-Related Severe Combined Immunodeficiency [RCV000542333] Chr2:97725136 [GRCh38]
Chr2:98341599 [GRCh37]
Chr2:2q11.2
benign|uncertain significance
NM_001079.4(ZAP70):c.1832C>T (p.Thr611Ile) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000330929]|ZAP70-Related Severe Combined Immunodeficiency [RCV000796429] Chr2:97739470 [GRCh38]
Chr2:98355933 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.*289G>C single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000331946]|not provided [RCV001618594] Chr2:97739787 [GRCh38]
Chr2:98356250 [GRCh37]
Chr2:2q11.2
benign
NM_001079.4(ZAP70):c.*161G>A single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000276899] Chr2:97739659 [GRCh38]
Chr2:98356122 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1656C>T (p.Ile552=) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001139499]|ZAP70-Related Severe Combined Immunodeficiency [RCV000553616]|not provided [RCV001702677] Chr2:97738027 [GRCh38]
Chr2:98354490 [GRCh37]
Chr2:2q11.2
likely benign|uncertain significance
NM_001079.4(ZAP70):c.590C>T (p.Thr197Ile) single nucleotide variant not provided [RCV000488997] Chr2:97732909 [GRCh38]
Chr2:98349372 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.516G>A (p.Glu172=) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV000389187] Chr2:97725205 [GRCh38]
Chr2:98341668 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.531T>C (p.Leu177=) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001141991]|ZAP70-Related Severe Combined Immunodeficiency [RCV000552712] Chr2:97725220 [GRCh38]
Chr2:98341683 [GRCh37]
Chr2:2q11.2
benign
NM_001079.4(ZAP70):c.1643T>G (p.Val548Gly) single nucleotide variant not provided [RCV000722512] Chr2:97738014 [GRCh38]
Chr2:98354477 [GRCh37]
Chr2:2q11.2
uncertain significance
GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266) copy number gain See cases [RCV000449270] Chr2:95529039..108518266 [GRCh37]
Chr2:2q11.1-12.3
pathogenic
GRCh37/hg19 2q11.1-13(chr2:95327499-111370025)x4 copy number gain See cases [RCV000446842] Chr2:95327499..111370025 [GRCh37]
Chr2:2q11.1-13
pathogenic
NM_001079.4(ZAP70):c.1290-16T>C single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002521763]|not specified [RCV000438773] Chr2:97737457 [GRCh38]
Chr2:98353920 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1467C>T (p.Asp489=) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001139497]|ZAP70-Related Severe Combined Immunodeficiency [RCV000647921]|not provided [RCV001702779]|not specified [RCV000440355] Chr2:97737650 [GRCh38]
Chr2:98354113 [GRCh37]
Chr2:2q11.2
benign|likely benign|uncertain significance
GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394) copy number gain See cases [RCV000447723] Chr2:95691600..100587394 [GRCh37]
Chr2:2q11.1-11.2
pathogenic
NM_001079.4(ZAP70):c.1679G>A (p.Cys560Tyr) single nucleotide variant not provided [RCV000482430] Chr2:97738050 [GRCh38]
Chr2:98354513 [GRCh37]
Chr2:2q11.2
likely pathogenic
NM_001079.4(ZAP70):c.1280del (p.Val427fs) deletion not provided [RCV000482821] Chr2:97735447 [GRCh38]
Chr2:98351910 [GRCh37]
Chr2:2q11.2
pathogenic
NM_001079.4(ZAP70):c.1409T>G (p.Val470Gly) single nucleotide variant not specified [RCV000454753] Chr2:97737592 [GRCh38]
Chr2:98354055 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1748G>A (p.Arg583His) single nucleotide variant not provided [RCV000484238]|not specified [RCV003317234] Chr2:97739386 [GRCh38]
Chr2:98355849 [GRCh37]
Chr2:2q11.2
likely pathogenic|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001079.4(ZAP70):c.192G>C (p.Gln64His) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001061263]|not provided [RCV000498370] Chr2:97724228 [GRCh38]
Chr2:98340691 [GRCh37]
Chr2:2q11.2
uncertain significance
GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127) copy number gain See cases [RCV000511158] Chr2:95518497..107186127 [GRCh37]
Chr2:2q11.1-12.2
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001079.4(ZAP70):c.1415G>A (p.Arg472Gln) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000647919] Chr2:97737598 [GRCh38]
Chr2:98354061 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.464C>T (p.Thr155Met) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000647922] Chr2:97725153 [GRCh38]
Chr2:98341616 [GRCh37]
Chr2:2q11.2
benign
NM_001079.4(ZAP70):c.1722C>T (p.Asp574=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000647923] Chr2:97738093 [GRCh38]
Chr2:98354556 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1638G>A (p.Pro546=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000647924]|not provided [RCV001702824] Chr2:97738009 [GRCh38]
Chr2:98354472 [GRCh37]
Chr2:2q11.2
benign|likely benign
NM_001079.4(ZAP70):c.1289+10G>A single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001329565]|ZAP70-Related Severe Combined Immunodeficiency [RCV000647925]|not provided [RCV002261156] Chr2:97735466 [GRCh38]
Chr2:98351929 [GRCh37]
Chr2:2q11.2
benign|uncertain significance
NM_001079.4(ZAP70):c.1623+7G>A single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000647926] Chr2:97737904 [GRCh38]
Chr2:98354367 [GRCh37]
Chr2:2q11.2
benign
NM_001079.4(ZAP70):c.594C>T (p.Tyr198=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000647927] Chr2:97732913 [GRCh38]
Chr2:98349376 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.117C>A (p.Cys39Ter) single nucleotide variant not provided [RCV000578778] Chr2:97724153 [GRCh38]
Chr2:98340616 [GRCh37]
Chr2:2q11.2
pathogenic
NM_001079.4(ZAP70):c.179C>T (p.Pro60Leu) single nucleotide variant Inborn genetic diseases [RCV003282415] Chr2:97724215 [GRCh38]
Chr2:98340678 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.-100-14G>A single nucleotide variant not specified [RCV000614981] Chr2:97713902 [GRCh38]
Chr2:98330365 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.7G>C (p.Asp3His) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000647918] Chr2:97724043 [GRCh38]
Chr2:98340506 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1289+4A>G single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000647920] Chr2:97735460 [GRCh38]
Chr2:98351923 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.620C>T (p.Thr207Met) single nucleotide variant Inborn genetic diseases [RCV002534300]|ZAP70-Related Severe Combined Immunodeficiency [RCV000706557]|not provided [RCV000658874] Chr2:97732939 [GRCh38]
Chr2:98349402 [GRCh37]
Chr2:2q11.2
uncertain significance
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3 copy number gain not provided [RCV000682168] Chr2:96353030..114045463 [GRCh37]
Chr2:2q11.1-13
pathogenic
NM_001079.4(ZAP70):c.1247dup (p.Met416fs) duplication ZAP70-Related Severe Combined Immunodeficiency [RCV000687243] Chr2:97735413..97735414 [GRCh38]
Chr2:98351876..98351877 [GRCh37]
Chr2:2q11.2
pathogenic
NM_001079.4(ZAP70):c.1490C>T (p.Ser497Leu) single nucleotide variant Inborn genetic diseases [RCV002534373]|ZAP70-Related Severe Combined Immunodeficiency [RCV000699346] Chr2:97737764 [GRCh38]
Chr2:98354227 [GRCh37]
Chr2:2q11.2
likely benign|uncertain significance
NM_001079.4(ZAP70):c.914C>T (p.Pro305Leu) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000693510] Chr2:97734544 [GRCh38]
Chr2:98351007 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.827C>T (p.Thr276Met) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000685456] Chr2:97733333 [GRCh38]
Chr2:98349796 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1757T>C (p.Phe586Ser) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000689774] Chr2:97739395 [GRCh38]
Chr2:98355858 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1591G>A (p.Glu531Lys) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000687834] Chr2:97737865 [GRCh38]
Chr2:98354328 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.981C>G (p.Asp327Glu) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001137246]|ZAP70-Related Severe Combined Immunodeficiency [RCV000707711]|not provided [RCV003141712] Chr2:97734611 [GRCh38]
Chr2:98351074 [GRCh37]
Chr2:2q11.2
likely benign|uncertain significance
NM_001079.4(ZAP70):c.1429A>G (p.Ile477Val) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000694595] Chr2:97737612 [GRCh38]
Chr2:98354075 [GRCh37]
Chr2:2q11.2
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q11.2(chr2:98261636-98407168)x3 copy number gain not provided [RCV000740532] Chr2:98261636..98407168 [GRCh37]
Chr2:2q11.2
benign
NM_001079.4(ZAP70):c.1012C>T (p.Leu338Phe) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000915750] Chr2:97734642 [GRCh38]
Chr2:98351105 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1764C>T (p.Thr588=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001444893] Chr2:97739402 [GRCh38]
Chr2:98355865 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.-21-115A>C single nucleotide variant not provided [RCV001612194]|not specified [RCV003394167] Chr2:97723901 [GRCh38]
Chr2:98340364 [GRCh37]
Chr2:2q11.2
benign
NM_001079.4(ZAP70):c.1698C>T (p.Pro566=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001426576] Chr2:97738069 [GRCh38]
Chr2:98354532 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.468G>A (p.Thr156=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001491004] Chr2:97725157 [GRCh38]
Chr2:98341620 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1389G>A (p.Ala463=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001059020] Chr2:97737572 [GRCh38]
Chr2:98354035 [GRCh37]
Chr2:2q11.2
likely benign|uncertain significance
NM_001079.4(ZAP70):c.216C>T (p.Ala72=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000943453] Chr2:97724252 [GRCh38]
Chr2:98340715 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1623+8C>T single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000975358] Chr2:97737905 [GRCh38]
Chr2:98354368 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.681C>T (p.Thr227=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000967623] Chr2:97733000 [GRCh38]
Chr2:98349463 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1518C>T (p.Tyr506=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001417528] Chr2:97737792 [GRCh38]
Chr2:98354255 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1560C>T (p.Ser520=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000876951] Chr2:97737834 [GRCh38]
Chr2:98354297 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.939C>G (p.Ser313Arg) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001137245]|ZAP70-Related Severe Combined Immunodeficiency [RCV000876082] Chr2:97734569 [GRCh38]
Chr2:98351032 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1428G>A (p.Lys476=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002549597] Chr2:97737611 [GRCh38]
Chr2:98354074 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.621G>A (p.Thr207=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002542138] Chr2:97732940 [GRCh38]
Chr2:98349403 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1443C>T (p.Gly481=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000883669] Chr2:97737626 [GRCh38]
Chr2:98354089 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.3(ZAP70):c.880C>G (p.Pro294Ala) single nucleotide variant Esophageal atresia [RCV000984776] Chr2:97733586 [GRCh38]
Chr2:98350049 [GRCh37]
Chr2:2q11.2
likely pathogenic
NM_001079.4(ZAP70):c.639C>T (p.Ile213=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000983792] Chr2:97732958 [GRCh38]
Chr2:98349421 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.565C>T (p.Leu189=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001037462] Chr2:97732884 [GRCh38]
Chr2:98349347 [GRCh37]
Chr2:2q11.2
likely benign|uncertain significance
NM_001079.4(ZAP70):c.1290-5C>A single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001044477] Chr2:97737468 [GRCh38]
Chr2:98353931 [GRCh37]
Chr2:2q11.2
likely benign|uncertain significance
NM_001079.4(ZAP70):c.1094A>G (p.Asp365Gly) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001050693] Chr2:97735261 [GRCh38]
Chr2:98351724 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.853G>A (p.Asp285Asn) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001050738] Chr2:97733559 [GRCh38]
Chr2:98350022 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.403-3T>C single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001141987]|ZAP70-Related Severe Combined Immunodeficiency [RCV001047967] Chr2:97725089 [GRCh38]
Chr2:98341552 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.890-16C>T single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001519468]|not provided [RCV001672956]|not specified [RCV000781926] Chr2:97734504 [GRCh38]
Chr2:98350967 [GRCh37]
Chr2:2q11.2
benign
NM_001079.4(ZAP70):c.1078C>T (p.Arg360Cys) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001137248]|ZAP70-Related Severe Combined Immunodeficiency [RCV001071941]|ZAP70-related condition [RCV003413582]|not provided [RCV000788154] Chr2:97734708 [GRCh38]
Chr2:98351171 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.573G>C (p.Pro191=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001394954] Chr2:97732892 [GRCh38]
Chr2:98349355 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.828G>A (p.Thr276=) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001143804]|ZAP70-Related Severe Combined Immunodeficiency [RCV000876626] Chr2:97733334 [GRCh38]
Chr2:98349797 [GRCh37]
Chr2:2q11.2
likely benign|uncertain significance
NM_001079.4(ZAP70):c.990C>T (p.Leu330=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001468061] Chr2:97734620 [GRCh38]
Chr2:98351083 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.702+9C>A single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001460051] Chr2:97733030 [GRCh38]
Chr2:98349493 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1605C>T (p.Tyr535=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000945360]|not provided [RCV001619863]|not specified [RCV002509583] Chr2:97737879 [GRCh38]
Chr2:98354342 [GRCh37]
Chr2:2q11.2
benign|likely benign
NM_001079.4(ZAP70):c.936G>C (p.Thr312=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000978913] Chr2:97734566 [GRCh38]
Chr2:98351029 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.756G>A (p.Glu252=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000899455]|not specified [RCV000780798] Chr2:97733178 [GRCh38]
Chr2:98349641 [GRCh37]
Chr2:2q11.2
likely benign|uncertain significance
NM_001079.4(ZAP70):c.360C>T (p.Asp120=) single nucleotide variant not specified [RCV000780799] Chr2:97724396 [GRCh38]
Chr2:98340859 [GRCh37]
Chr2:2q11.2
likely benign|uncertain significance
NM_001079.4(ZAP70):c.1016T>A (p.Ile339Lys) single nucleotide variant Inborn genetic diseases [RCV003271310] Chr2:97734646 [GRCh38]
Chr2:98351109 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1018G>A (p.Ala340Thr) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000793549] Chr2:97734648 [GRCh38]
Chr2:98351111 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1464C>T (p.Ala488=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001490617] Chr2:97737647 [GRCh38]
Chr2:98354110 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1139C>T (p.Thr380Met) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000809942] Chr2:97735306 [GRCh38]
Chr2:98351769 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.302C>A (p.Pro101Gln) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000807425] Chr2:97724338 [GRCh38]
Chr2:98340801 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1468G>A (p.Asp490Asn) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000820389] Chr2:97737651 [GRCh38]
Chr2:98354114 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.791-3C>T single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000815434] Chr2:97733294 [GRCh38]
Chr2:98349757 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1529_1532dup (p.Ile511fs) duplication ZAP70-Related Severe Combined Immunodeficiency [RCV000817053] Chr2:97737800..97737801 [GRCh38]
Chr2:98354263..98354264 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.109C>G (p.Arg37Gly) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000817054] Chr2:97724145 [GRCh38]
Chr2:98340608 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1404G>A (p.Leu468=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001414028] Chr2:97737587 [GRCh38]
Chr2:98354050 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.973C>T (p.Leu325Phe) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000792952] Chr2:97734603 [GRCh38]
Chr2:98351066 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.935C>T (p.Thr312Met) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000792965] Chr2:97734565 [GRCh38]
Chr2:98351028 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1753G>A (p.Asp585Asn) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000795675] Chr2:97739391 [GRCh38]
Chr2:98355854 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.80C>A (p.Ala27Glu) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001139372]|ZAP70-Related Severe Combined Immunodeficiency [RCV000800529] Chr2:97724116 [GRCh38]
Chr2:98340579 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1765G>A (p.Val589Met) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000801195] Chr2:97739403 [GRCh38]
Chr2:98355866 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1556G>A (p.Arg519His) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000805345]|not provided [RCV001508450] Chr2:97737830 [GRCh38]
Chr2:98354293 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1190A>G (p.Tyr397Cys) single nucleotide variant Inborn genetic diseases [RCV002537020]|ZAP70-Related Severe Combined Immunodeficiency [RCV000796197] Chr2:97735357 [GRCh38]
Chr2:98351820 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.693G>A (p.Thr231=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000872404] Chr2:97733012 [GRCh38]
Chr2:98349475 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1275C>T (p.Phe425=) single nucleotide variant not provided [RCV000898652] Chr2:97735442 [GRCh38]
Chr2:98351905 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1101C>T (p.Ala367=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001498410] Chr2:97735268 [GRCh38]
Chr2:98351731 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.774T>C (p.Ser258=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000872608] Chr2:97733196 [GRCh38]
Chr2:98349659 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.988C>T (p.Leu330Phe) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001137247]|Combined immunodeficiency due to ZAP70 deficiency [RCV002495152]|ZAP70-Related Severe Combined Immunodeficiency [RCV000815944] Chr2:97734618 [GRCh38]
Chr2:98351081 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1115A>C (p.Lys372Thr) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000820233] Chr2:97735282 [GRCh38]
Chr2:98351745 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1140G>A (p.Thr380=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001467148] Chr2:97735307 [GRCh38]
Chr2:98351770 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.866C>G (p.Ser289Ter) single nucleotide variant not provided [RCV000788288] Chr2:97733572 [GRCh38]
Chr2:98350035 [GRCh37]
Chr2:2q11.2
likely pathogenic
NM_001079.4(ZAP70):c.940G>A (p.Val314Met) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000822297]|not provided [RCV000788289] Chr2:97734570 [GRCh38]
Chr2:98351033 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.553G>A (p.Gly185Ser) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001062227] Chr2:97725242 [GRCh38]
Chr2:98341705 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.133G>C (p.Gly45Arg) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001204833] Chr2:97724169 [GRCh38]
Chr2:98340632 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.16G>A (p.Ala6Thr) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001208333] Chr2:97724052 [GRCh38]
Chr2:98340515 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.753G>A (p.Lys251=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001224239] Chr2:97733175 [GRCh38]
Chr2:98349638 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.261C>G (p.Tyr87Ter) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001226679] Chr2:97724297 [GRCh38]
Chr2:98340760 [GRCh37]
Chr2:2q11.2
pathogenic
NM_001079.4(ZAP70):c.1831A>T (p.Thr611Ser) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001221277] Chr2:97739469 [GRCh38]
Chr2:98355932 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1432A>G (p.Ser478Gly) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001223574] Chr2:97737615 [GRCh38]
Chr2:98354078 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1797C>G (p.Ser599Arg) single nucleotide variant Inborn genetic diseases [RCV002561142]|ZAP70-Related Severe Combined Immunodeficiency [RCV001204098] Chr2:97739435 [GRCh38]
Chr2:98355898 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.*228G>A single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001140264] Chr2:97739726 [GRCh38]
Chr2:98356189 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.790+12_790+15dup duplication ZAP70-Related Severe Combined Immunodeficiency [RCV001438063]|not specified [RCV001192891] Chr2:97733221..97733222 [GRCh38]
Chr2:98349684..98349685 [GRCh37]
Chr2:2q11.2
likely benign|uncertain significance
NM_001079.4(ZAP70):c.504G>C (p.Leu168=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV003105127] Chr2:97725193 [GRCh38]
Chr2:98341656 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.889+288C>T single nucleotide variant not provided [RCV001598149] Chr2:97733883 [GRCh38]
Chr2:98350346 [GRCh37]
Chr2:2q11.2
benign
NM_001079.4(ZAP70):c.1289+67T>C single nucleotide variant not provided [RCV001716580]|not specified [RCV003401643] Chr2:97735523 [GRCh38]
Chr2:98351986 [GRCh37]
Chr2:2q11.2
benign
NM_001079.4(ZAP70):c.1353C>T (p.Tyr451=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000877400] Chr2:97737536 [GRCh38]
Chr2:98353999 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.889+7G>A single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV000965611] Chr2:97733602 [GRCh38]
Chr2:98350065 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1368C>T (p.Asn456=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001457868] Chr2:97737551 [GRCh38]
Chr2:98354014 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1780C>G (p.Arg594Gly) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001214270] Chr2:97739418 [GRCh38]
Chr2:98355881 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.467C>G (p.Thr156Arg) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001141988] Chr2:97725156 [GRCh38]
Chr2:98341619 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.512A>G (p.Glu171Gly) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001141990]|Combined immunodeficiency due to ZAP70 deficiency [RCV002497555]|ZAP70-Related Severe Combined Immunodeficiency [RCV001514782] Chr2:97725201 [GRCh38]
Chr2:98341664 [GRCh37]
Chr2:2q11.2
benign|likely benign
NM_001079.4(ZAP70):c.1274_1275delinsGT (p.Phe425Cys) indel ZAP70-Related Severe Combined Immunodeficiency [RCV001227787] Chr2:97735441..97735442 [GRCh38]
Chr2:98351904..98351905 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1737-7C>T single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001139500] Chr2:97739368 [GRCh38]
Chr2:98355831 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.474C>T (p.His158=) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001141989]|ZAP70-Related Severe Combined Immunodeficiency [RCV000889539]|not specified [RCV001269100] Chr2:97725163 [GRCh38]
Chr2:98341626 [GRCh37]
Chr2:2q11.2
benign|likely benign
GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3 copy number gain not provided [RCV002473932] Chr2:95341388..100340514 [GRCh37]
Chr2:2q11.1-11.2
likely pathogenic
NM_001079.4(ZAP70):c.1737-224C>G single nucleotide variant not provided [RCV001659522] Chr2:97739151 [GRCh38]
Chr2:98355614 [GRCh37]
Chr2:2q11.2
benign
NM_001079.4(ZAP70):c.1290-89C>T single nucleotide variant not provided [RCV001620216]|not specified [RCV003394170] Chr2:97737384 [GRCh38]
Chr2:98353847 [GRCh37]
Chr2:2q11.2
benign
NM_001079.4(ZAP70):c.-101+81A>G single nucleotide variant not provided [RCV001613759] Chr2:97713755 [GRCh38]
Chr2:98330218 [GRCh37]
Chr2:2q11.2
benign
NM_001079.4(ZAP70):c.889+43A>C single nucleotide variant not provided [RCV001653422] Chr2:97733638 [GRCh38]
Chr2:98350101 [GRCh37]
Chr2:2q11.2
benign
NM_001079.4(ZAP70):c.729G>A (p.Ala243=) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001143802]|ZAP70-Related Severe Combined Immunodeficiency [RCV002070732] Chr2:97733151 [GRCh38]
Chr2:98349614 [GRCh37]
Chr2:2q11.2
likely benign|uncertain significance
NM_001079.4(ZAP70):c.790+6G>A single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001143803]|ZAP70-Related Severe Combined Immunodeficiency [RCV001858944] Chr2:97733218 [GRCh38]
Chr2:98349681 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.*11C>A single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001140262] Chr2:97739509 [GRCh38]
Chr2:98355972 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.*48C>T single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001140263] Chr2:97739546 [GRCh38]
Chr2:98356009 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1487G>A (p.Arg496His) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001067494] Chr2:97737761 [GRCh38]
Chr2:98354224 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.199G>T (p.Gly67Cys) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001139373] Chr2:97724235 [GRCh38]
Chr2:98340698 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.791-1G>A single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001067902] Chr2:97733296 [GRCh38]
Chr2:98349759 [GRCh37]
Chr2:2q11.2
likely pathogenic
NM_001079.4(ZAP70):c.1737-162_1737-161del deletion not provided [RCV001616272] Chr2:97739213..97739214 [GRCh38]
Chr2:98355676..98355677 [GRCh37]
Chr2:2q11.2
benign
NM_001079.4(ZAP70):c.402+294C>T single nucleotide variant not provided [RCV001680936] Chr2:97724732 [GRCh38]
Chr2:98341195 [GRCh37]
Chr2:2q11.2
benign
NM_001079.4(ZAP70):c.939C>A (p.Ser313Arg) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001234455] Chr2:97734569 [GRCh38]
Chr2:98351032 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.474C>G (p.His158Gln) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001208802]|not provided [RCV003480991] Chr2:97725163 [GRCh38]
Chr2:98341626 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1720G>A (p.Asp574Asn) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001232442] Chr2:97738091 [GRCh38]
Chr2:98354554 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.3(ZAP70):c.-217G>A single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001137134] Chr2:97713558 [GRCh38]
Chr2:98330021 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.920C>T (p.Pro307Leu) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001137244]|ZAP70-Related Severe Combined Immunodeficiency [RCV001856754] Chr2:97734550 [GRCh38]
Chr2:98351013 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1624-12C>T single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001139498]|ZAP70-Related Severe Combined Immunodeficiency [RCV002070658]|not provided [RCV001712857] Chr2:97737983 [GRCh38]
Chr2:98354446 [GRCh37]
Chr2:2q11.2
benign|likely benign|uncertain significance
NC_000002.12:g.(?_97737453)_(97739518_?)del deletion ZAP70-Related Severe Combined Immunodeficiency [RCV001032285] Chr2:98353916..98355981 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.283C>T (p.Pro95Ser) single nucleotide variant Combined immunodeficiency [RCV001027642] Chr2:97724319 [GRCh38]
Chr2:98340782 [GRCh37]
Chr2:2q11.2
pathogenic
NM_001079.4(ZAP70):c.*274G>A single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001140265] Chr2:97739772 [GRCh38]
Chr2:98356235 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1392C>A (p.Ala464=) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001137249]|ZAP70-Related Severe Combined Immunodeficiency [RCV002070603] Chr2:97737575 [GRCh38]
Chr2:98354038 [GRCh37]
Chr2:2q11.2
likely benign|uncertain significance
NM_001079.4(ZAP70):c.1623G>A (p.Lys541=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001214641] Chr2:97737897 [GRCh38]
Chr2:98354360 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1435G>A (p.Asp479Asn) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001215315] Chr2:97737618 [GRCh38]
Chr2:98354081 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.203C>G (p.Thr68Ser) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001041343] Chr2:97724239 [GRCh38]
Chr2:98340702 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.711G>C (p.Glu237Asp) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001215848] Chr2:97733133 [GRCh38]
Chr2:98349596 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.655G>A (p.Gly219Ser) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001143801] Chr2:97732974 [GRCh38]
Chr2:98349437 [GRCh37]
Chr2:2q11.2
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001079.4(ZAP70):c.440C>T (p.Pro147Leu) single nucleotide variant Autoimmune disease, multisystem, infantile-onset, 2 [RCV001329566] Chr2:97725129 [GRCh38]
Chr2:98341592 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.185A>G (p.Glu62Gly) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001316005] Chr2:97724221 [GRCh38]
Chr2:98340684 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1274T>A (p.Phe425Tyr) single nucleotide variant not specified [RCV001328422] Chr2:97735441 [GRCh38]
Chr2:98351904 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.692C>T (p.Thr231Met) single nucleotide variant Autoimmune disease, multisystem, infantile-onset, 2 [RCV001335607]|ZAP70-Related Severe Combined Immunodeficiency [RCV002547342]|not provided [RCV001760438] Chr2:97733011 [GRCh38]
Chr2:98349474 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.304T>G (p.Cys102Gly) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001374135] Chr2:97724340 [GRCh38]
Chr2:98340803 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1019C>G (p.Ala340Gly) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001321644] Chr2:97734649 [GRCh38]
Chr2:98351112 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1801G>A (p.Ala601Thr) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001343779] Chr2:97739439 [GRCh38]
Chr2:98355902 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.437C>T (p.Ala146Val) single nucleotide variant Inborn genetic diseases [RCV002547890]|ZAP70-Related Severe Combined Immunodeficiency [RCV001368505] Chr2:97725126 [GRCh38]
Chr2:98341589 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.591A>G (p.Thr197=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001323245] Chr2:97732910 [GRCh38]
Chr2:98349373 [GRCh37]
Chr2:2q11.2
likely benign|uncertain significance
NM_001079.4(ZAP70):c.46T>C (p.Ser16Pro) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001363278] Chr2:97724082 [GRCh38]
Chr2:98340545 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1198C>T (p.Arg400Trp) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001350353] Chr2:97735365 [GRCh38]
Chr2:98351828 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1225G>T (p.Ala409Ser) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001345316] Chr2:97735392 [GRCh38]
Chr2:98351855 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1228C>G (p.Leu410Val) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001323492]|not provided [RCV003135974] Chr2:97735395 [GRCh38]
Chr2:98351858 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1378C>T (p.Arg460Cys) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001350041]|not provided [RCV002224076] Chr2:97737561 [GRCh38]
Chr2:98354024 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.733G>A (p.Gly245Arg) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001362274] Chr2:97733155 [GRCh38]
Chr2:98349618 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.563+4T>G single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001322704] Chr2:97725256 [GRCh38]
Chr2:98341719 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1272G>C (p.Lys424Asn) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001352274] Chr2:97735439 [GRCh38]
Chr2:98351902 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1524C>T (p.Pro508=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001413211] Chr2:97737798 [GRCh38]
Chr2:98354261 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1623+5G>A single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001297007] Chr2:97737902 [GRCh38]
Chr2:98354365 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.37G>C (p.Gly13Arg) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001318334] Chr2:97724073 [GRCh38]
Chr2:98340536 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1775G>A (p.Arg592His) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001305781] Chr2:97739413 [GRCh38]
Chr2:98355876 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1282G>A (p.Gly428Ser) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001340707] Chr2:97735449 [GRCh38]
Chr2:98351912 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1540C>T (p.Arg514Cys) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001316224] Chr2:97737814 [GRCh38]
Chr2:98354277 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1226C>T (p.Ala409Val) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001368720] Chr2:97735393 [GRCh38]
Chr2:98351856 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1153C>T (p.Arg385Cys) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001306030] Chr2:97735320 [GRCh38]
Chr2:98351783 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.790+5C>T single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001358857] Chr2:97733217 [GRCh38]
Chr2:98349680 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.979G>A (p.Asp327Asn) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001299066] Chr2:97734609 [GRCh38]
Chr2:98351072 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.783C>T (p.Asn261=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001401926] Chr2:97733205 [GRCh38]
Chr2:98349668 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.537T>C (p.Ser179=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001500142] Chr2:97725226 [GRCh38]
Chr2:98341689 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.918G>A (p.Arg306=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001480240] Chr2:97734548 [GRCh38]
Chr2:98351011 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.852C>A (p.Ile284=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001439223] Chr2:97733558 [GRCh38]
Chr2:98350021 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1289+9C>T single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001487111] Chr2:97735465 [GRCh38]
Chr2:98351928 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.861C>A (p.Leu287=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001418618] Chr2:97733567 [GRCh38]
Chr2:98350030 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.180C>T (p.Pro60=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001403546] Chr2:97724216 [GRCh38]
Chr2:98340679 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1752C>G (p.Pro584=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001456054] Chr2:97739390 [GRCh38]
Chr2:98355853 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1284C>G (p.Gly428=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001453087] Chr2:97735451 [GRCh38]
Chr2:98351914 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1818G>A (p.Gly606=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001492068] Chr2:97739456 [GRCh38]
Chr2:98355919 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.162G>A (p.Val54=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001438242] Chr2:97724198 [GRCh38]
Chr2:98340661 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.475G>T (p.Glu159Ter) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001385032] Chr2:97725164 [GRCh38]
Chr2:98341627 [GRCh37]
Chr2:2q11.2
pathogenic
NM_001079.4(ZAP70):c.1509C>T (p.Leu503=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001404835] Chr2:97737783 [GRCh38]
Chr2:98354246 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.528A>G (p.Lys176=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001403444] Chr2:97725217 [GRCh38]
Chr2:98341680 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.267C>T (p.Arg89=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001425661] Chr2:97724303 [GRCh38]
Chr2:98340766 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1111C>T (p.Leu371=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001393171] Chr2:97735278 [GRCh38]
Chr2:98351741 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.342C>T (p.Val114=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001444892]|not provided [RCV001824967] Chr2:97724378 [GRCh38]
Chr2:98340841 [GRCh37]
Chr2:2q11.2
likely benign|not provided
NM_001079.4(ZAP70):c.423C>T (p.Ala141=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001432467] Chr2:97725112 [GRCh38]
Chr2:98341575 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1737-9G>A single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001473247] Chr2:97739366 [GRCh38]
Chr2:98355829 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1737-10C>T single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001480902] Chr2:97739365 [GRCh38]
Chr2:98355828 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1371T>C (p.Phe457=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001503046] Chr2:97737554 [GRCh38]
Chr2:98354017 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.703-9T>C single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001491188] Chr2:97733116 [GRCh38]
Chr2:98349579 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.791-16C>T single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001480123] Chr2:97733281 [GRCh38]
Chr2:98349744 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.564-19C>T single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001440115] Chr2:97732864 [GRCh38]
Chr2:98349327 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.310C>A (p.Arg104=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001483392] Chr2:97724346 [GRCh38]
Chr2:98340809 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1737-15C>T single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001513498] Chr2:97739360 [GRCh38]
Chr2:98355823 [GRCh37]
Chr2:2q11.2
benign
NM_001079.4(ZAP70):c.1416G>C (p.Arg472=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001406734] Chr2:97737599 [GRCh38]
Chr2:98354062 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1023C>T (p.Asp341=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001496639] Chr2:97734653 [GRCh38]
Chr2:98351116 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.876C>T (p.Tyr292=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001423377] Chr2:97733582 [GRCh38]
Chr2:98350045 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.889+8G>C single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001398625] Chr2:97733603 [GRCh38]
Chr2:98350066 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1083-7C>T single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001499660] Chr2:97735243 [GRCh38]
Chr2:98351706 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1624-13C>T single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001484219] Chr2:97737982 [GRCh38]
Chr2:98354445 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1065C>T (p.Gly355=) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV001731179] Chr2:97734695 [GRCh38]
Chr2:98351158 [GRCh37]
Chr2:2q11.2
pathogenic|not provided
NM_001079.4(ZAP70):c.890-1G>C single nucleotide variant not provided [RCV001784041] Chr2:97734519 [GRCh38]
Chr2:98350982 [GRCh37]
Chr2:2q11.2
likely pathogenic
NM_001079.4(ZAP70):c.1825G>A (p.Gly609Ser) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002540375]|not provided [RCV001765614] Chr2:97739463 [GRCh38]
Chr2:98355926 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.402+219A>G single nucleotide variant not provided [RCV001799892] Chr2:97724657 [GRCh38]
Chr2:98341120 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.-100-100_-100-93del deletion not provided [RCV001762819] Chr2:97713816..97713823 [GRCh38]
Chr2:98330279..98330286 [GRCh37]
Chr2:2q11.2
benign
NM_001079.4(ZAP70):c.169C>T (p.His57Tyr) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001988707] Chr2:97724205 [GRCh38]
Chr2:98340668 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.422C>G (p.Ala141Gly) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001896564] Chr2:97725111 [GRCh38]
Chr2:98341574 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1780C>T (p.Arg594Ter) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001915221] Chr2:97739418 [GRCh38]
Chr2:98355881 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.25C>G (p.Pro9Ala) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001893892] Chr2:97724061 [GRCh38]
Chr2:98340524 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.523C>T (p.Arg175Cys) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001896116] Chr2:97725212 [GRCh38]
Chr2:98341675 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1817G>A (p.Gly606Glu) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001893343] Chr2:97739455 [GRCh38]
Chr2:98355918 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.317C>G (p.Ser106Trp) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002005589] Chr2:97724353 [GRCh38]
Chr2:98340816 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1837A>T (p.Lys613Ter) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002021432] Chr2:97739475 [GRCh38]
Chr2:98355938 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.328C>T (p.Pro110Ser) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001893598] Chr2:97724364 [GRCh38]
Chr2:98340827 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.608T>A (p.Ile203Asn) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002006145] Chr2:97732927 [GRCh38]
Chr2:98349390 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.847C>T (p.Arg283Ter) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001970101] Chr2:97733553 [GRCh38]
Chr2:98350016 [GRCh37]
Chr2:2q11.2
pathogenic
NM_001079.4(ZAP70):c.1518C>A (p.Tyr506Ter) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001890938] Chr2:97737792 [GRCh38]
Chr2:98354255 [GRCh37]
Chr2:2q11.2
pathogenic
NM_001079.4(ZAP70):c.1452A>G (p.Lys484=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001987199] Chr2:97737635 [GRCh38]
Chr2:98354098 [GRCh37]
Chr2:2q11.2
likely benign|uncertain significance
NM_001079.4(ZAP70):c.227C>T (p.Ala76Val) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002004106] Chr2:97724263 [GRCh38]
Chr2:98340726 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1819C>T (p.Pro607Ser) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001911294] Chr2:97739457 [GRCh38]
Chr2:98355920 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.366G>C (p.Met122Ile) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001892855] Chr2:97724402 [GRCh38]
Chr2:98340865 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.710A>G (p.Glu237Gly) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001913334] Chr2:97733132 [GRCh38]
Chr2:98349595 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.703-1G>A single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001927415] Chr2:97733124 [GRCh38]
Chr2:98349587 [GRCh37]
Chr2:2q11.2
pathogenic
NM_001079.4(ZAP70):c.1673T>C (p.Met558Thr) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001966915] Chr2:97738044 [GRCh38]
Chr2:98354507 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1751C>T (p.Pro584Leu) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001976548] Chr2:97739389 [GRCh38]
Chr2:98355852 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.520G>A (p.Glu174Lys) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002000778] Chr2:97725209 [GRCh38]
Chr2:98341672 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.402+20C>T single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002016195] Chr2:97724458 [GRCh38]
Chr2:98340921 [GRCh37]
Chr2:2q11.2
likely benign|uncertain significance
NM_001079.4(ZAP70):c.1240A>G (p.Met414Val) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002010076] Chr2:97735407 [GRCh38]
Chr2:98351870 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.550G>A (p.Asp184Asn) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001900256] Chr2:97725239 [GRCh38]
Chr2:98341702 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1220C>G (p.Ala407Gly) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002010163] Chr2:97735387 [GRCh38]
Chr2:98351850 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1318G>A (p.Glu440Lys) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001918039] Chr2:97737501 [GRCh38]
Chr2:98353964 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1255G>A (p.Gly419Ser) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001978034] Chr2:97735422 [GRCh38]
Chr2:98351885 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1124C>T (p.Thr375Met) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002026016] Chr2:97735291 [GRCh38]
Chr2:98351754 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1256G>A (p.Gly419Asp) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001934622] Chr2:97735423 [GRCh38]
Chr2:98351886 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1660C>G (p.Gln554Glu) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001902316] Chr2:97738031 [GRCh38]
Chr2:98354494 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.790+15C>T single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002012616] Chr2:97733227 [GRCh38]
Chr2:98349690 [GRCh37]
Chr2:2q11.2
uncertain significance
NC_000002.11:g.(?_98349326)_(98355961_?)dup duplication ZAP70-Related Severe Combined Immunodeficiency [RCV001916276] Chr2:98349326..98355961 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.572C>T (p.Pro191Leu) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001980756] Chr2:97732891 [GRCh38]
Chr2:98349354 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.889+6C>T single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001934089] Chr2:97733601 [GRCh38]
Chr2:98350064 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.671C>T (p.Pro224Leu) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001971883] Chr2:97732990 [GRCh38]
Chr2:98349453 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1210G>A (p.Val404Ile) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001917163] Chr2:97735377 [GRCh38]
Chr2:98351840 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.402+6A>G single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001990466] Chr2:97724444 [GRCh38]
Chr2:98340907 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.202A>T (p.Thr68Ser) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001921209] Chr2:97724238 [GRCh38]
Chr2:98340701 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1083-11G>A single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002028693] Chr2:97735239 [GRCh38]
Chr2:98351702 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.643C>G (p.Gln215Glu) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002018477] Chr2:97732962 [GRCh38]
Chr2:98349425 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1340T>C (p.Met447Thr) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001884300] Chr2:97737523 [GRCh38]
Chr2:98353986 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1840G>C (p.Ala614Pro) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001906797] Chr2:97739478 [GRCh38]
Chr2:98355941 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1312G>C (p.Val438Leu) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV001993981] Chr2:97737495 [GRCh38]
Chr2:98353958 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.732C>T (p.Asp244=) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV002494197]|ZAP70-Related Severe Combined Immunodeficiency [RCV002104950] Chr2:97733154 [GRCh38]
Chr2:98349617 [GRCh37]
Chr2:2q11.2
benign|likely benign
NM_001079.4(ZAP70):c.336G>A (p.Pro112=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002110693] Chr2:97724372 [GRCh38]
Chr2:98340835 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.890-14C>T single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002147505] Chr2:97734506 [GRCh38]
Chr2:98350969 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1289+20G>A single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002086847] Chr2:97735476 [GRCh38]
Chr2:98351939 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1290-18C>A single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002168589] Chr2:97737455 [GRCh38]
Chr2:98353918 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.558G>A (p.Lys186=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002107463] Chr2:97725247 [GRCh38]
Chr2:98341710 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1702C>T (p.Leu568=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002189922] Chr2:97738073 [GRCh38]
Chr2:98354536 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.537T>G (p.Ser179=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002125417] Chr2:97725226 [GRCh38]
Chr2:98341689 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.702+17A>C single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002148652] Chr2:97733038 [GRCh38]
Chr2:98349501 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.837+17T>C single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002114073] Chr2:97733360 [GRCh38]
Chr2:98349823 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.790+16G>C single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002191591] Chr2:97733228 [GRCh38]
Chr2:98349691 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.563+8G>T single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002153548] Chr2:97725260 [GRCh38]
Chr2:98341723 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.315G>A (p.Pro105=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002166480] Chr2:97724351 [GRCh38]
Chr2:98340814 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1290-11C>T single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002151908] Chr2:97737462 [GRCh38]
Chr2:98353925 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.702+11C>T single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002094773] Chr2:97733032 [GRCh38]
Chr2:98349495 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.873A>C (p.Gly291=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002147172] Chr2:97733579 [GRCh38]
Chr2:98350042 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1140G>C (p.Thr380=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002150417] Chr2:97735307 [GRCh38]
Chr2:98351770 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1797C>T (p.Ser599=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002096029] Chr2:97739435 [GRCh38]
Chr2:98355898 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.624G>A (p.Val208=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002146521] Chr2:97732943 [GRCh38]
Chr2:98349406 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1065C>A (p.Gly355=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002131598] Chr2:97734695 [GRCh38]
Chr2:98351158 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1289+20G>C single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002173275] Chr2:97735476 [GRCh38]
Chr2:98351939 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.791-12C>T single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002193950] Chr2:97733285 [GRCh38]
Chr2:98349748 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.352C>T (p.Leu118=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002193915] Chr2:97724388 [GRCh38]
Chr2:98340851 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1083-19C>G single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002197661] Chr2:97735231 [GRCh38]
Chr2:98351694 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1476C>T (p.Tyr492=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002220675] Chr2:97737659 [GRCh38]
Chr2:98354122 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1299C>A (p.Ile433=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002139493] Chr2:97737482 [GRCh38]
Chr2:98353945 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1082+16C>G single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002204094] Chr2:97734728 [GRCh38]
Chr2:98351191 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1082+12C>A single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002178667] Chr2:97734724 [GRCh38]
Chr2:98351187 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1653C>T (p.Phe551=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002141371] Chr2:97738024 [GRCh38]
Chr2:98354487 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.369G>A (p.Val123=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002143017] Chr2:97724405 [GRCh38]
Chr2:98340868 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.790+20G>A single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002117849] Chr2:97733232 [GRCh38]
Chr2:98349695 [GRCh37]
Chr2:2q11.2
benign
NM_001079.4(ZAP70):c.1623+9G>A single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002098337] Chr2:97737906 [GRCh38]
Chr2:98354369 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.790+19C>T single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002163839] Chr2:97733231 [GRCh38]
Chr2:98349694 [GRCh37]
Chr2:2q11.2
benign
NM_001079.4(ZAP70):c.435G>A (p.Gln145=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002219359] Chr2:97725124 [GRCh38]
Chr2:98341587 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.729G>C (p.Ala243=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002164180] Chr2:97733151 [GRCh38]
Chr2:98349614 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1752C>T (p.Pro584=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002154549] Chr2:97739390 [GRCh38]
Chr2:98355853 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.549C>T (p.Thr183=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002120296] Chr2:97725238 [GRCh38]
Chr2:98341701 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.543G>A (p.Ala181=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002103363] Chr2:97725232 [GRCh38]
Chr2:98341695 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1482+7C>G single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV003118082] Chr2:97737672 [GRCh38]
Chr2:98354135 [GRCh37]
Chr2:2q11.2
likely benign
NC_000002.11:g.(?_98340500)_(98355961_?)dup duplication ZAP70-Related Severe Combined Immunodeficiency [RCV003122456] Chr2:98340500..98355961 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.329C>T (p.Pro110Leu) single nucleotide variant not specified [RCV002266309] Chr2:97724365 [GRCh38]
Chr2:98340828 [GRCh37]
Chr2:2q11.2
uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13
pathogenic
NM_001079.4(ZAP70):c.1450A>T (p.Lys484Ter) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV003011837] Chr2:97737633 [GRCh38]
Chr2:98354096 [GRCh37]
Chr2:2q11.2
pathogenic
NM_001079.4(ZAP70):c.444G>C (p.Gln148His) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002295880] Chr2:97725133 [GRCh38]
Chr2:98341596 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.815C>G (p.Ala272Gly) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002299203] Chr2:97733321 [GRCh38]
Chr2:98349784 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.761G>C (p.Cys254Ser) single nucleotide variant Inborn genetic diseases [RCV002773169] Chr2:97733183 [GRCh38]
Chr2:98349646 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1333G>A (p.Val445Met) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002775882] Chr2:97737516 [GRCh38]
Chr2:98353979 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.506C>T (p.Thr169Met) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002995351] Chr2:97725195 [GRCh38]
Chr2:98341658 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1778T>C (p.Met593Thr) single nucleotide variant Inborn genetic diseases [RCV002882865] Chr2:97739416 [GRCh38]
Chr2:98355879 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1624-18_1624-17del microsatellite ZAP70-Related Severe Combined Immunodeficiency [RCV002908056] Chr2:97737974..97737975 [GRCh38]
Chr2:98354437..98354438 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1176G>C (p.Gln392His) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002948228] Chr2:97735343 [GRCh38]
Chr2:98351806 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1637C>T (p.Pro546Leu) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002842206] Chr2:97738008 [GRCh38]
Chr2:98354471 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1126G>A (p.Glu376Lys) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002904451] Chr2:97735293 [GRCh38]
Chr2:98351756 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.90G>T (p.Ala30=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV003017421] Chr2:97724126 [GRCh38]
Chr2:98340589 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.330G>C (p.Pro110=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002947138] Chr2:97724366 [GRCh38]
Chr2:98340829 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1110G>A (p.Val370=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002903551] Chr2:97735277 [GRCh38]
Chr2:98351740 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1479C>T (p.Tyr493=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV003081358] Chr2:97737662 [GRCh38]
Chr2:98354125 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1624-4G>A single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002948436] Chr2:97737991 [GRCh38]
Chr2:98354454 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1370T>C (p.Phe457Ser) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV003018403] Chr2:97737553 [GRCh38]
Chr2:98354016 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1002C>T (p.Arg334=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002659710] Chr2:97734632 [GRCh38]
Chr2:98351095 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.402+4A>T single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002570219] Chr2:97724442 [GRCh38]
Chr2:98340905 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1368C>A (p.Asn456Lys) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002824547] Chr2:97737551 [GRCh38]
Chr2:98354014 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.608T>C (p.Ile203Thr) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002824549] Chr2:97732927 [GRCh38]
Chr2:98349390 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.564-13C>T single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV003079585] Chr2:97732870 [GRCh38]
Chr2:98349333 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1593G>A (p.Glu531=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV003055314] Chr2:97737867 [GRCh38]
Chr2:98354330 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.48G>C (p.Ser16=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002953043] Chr2:97724084 [GRCh38]
Chr2:98340547 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1335G>A (p.Val445=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV003037927] Chr2:97737518 [GRCh38]
Chr2:98353981 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1736+18G>A single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002624037] Chr2:97738125 [GRCh38]
Chr2:98354588 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.380T>C (p.Val127Ala) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002663983] Chr2:97724416 [GRCh38]
Chr2:98340879 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1339A>G (p.Met447Val) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002914850] Chr2:97737522 [GRCh38]
Chr2:98353985 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1289+13T>G single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV003007892] Chr2:97735469 [GRCh38]
Chr2:98351932 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.728C>T (p.Ala243Val) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002958670] Chr2:97733150 [GRCh38]
Chr2:98349613 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.21C>G (p.His7Gln) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002828183] Chr2:97724057 [GRCh38]
Chr2:98340520 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.981C>T (p.Asp327=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV003022316] Chr2:97734611 [GRCh38]
Chr2:98351074 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.109C>A (p.Arg37Ser) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV003023166] Chr2:97724145 [GRCh38]
Chr2:98340608 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.377A>C (p.Tyr126Ser) single nucleotide variant Inborn genetic diseases [RCV002892173] Chr2:97724413 [GRCh38]
Chr2:98340876 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1082+15G>A single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002663596] Chr2:97734727 [GRCh38]
Chr2:98351190 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1699G>A (p.Glu567Lys) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002985339] Chr2:97738070 [GRCh38]
Chr2:98354533 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.50G>T (p.Arg17Leu) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002957543] Chr2:97724086 [GRCh38]
Chr2:98340549 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1068G>T (p.Val356=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002894579] Chr2:97734698 [GRCh38]
Chr2:98351161 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.542C>G (p.Ala181Gly) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV003007226] Chr2:97725231 [GRCh38]
Chr2:98341694 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.871G>A (p.Gly291Arg) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002828739] Chr2:97733577 [GRCh38]
Chr2:98350040 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1829G>A (p.Ser610Asn) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002667679] Chr2:97739467 [GRCh38]
Chr2:98355930 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1305G>A (p.Val435=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002575044] Chr2:97737488 [GRCh38]
Chr2:98353951 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.791-14T>G single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002630101] Chr2:97733283 [GRCh38]
Chr2:98349746 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1635G>A (p.Gly545=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002942040] Chr2:97738006 [GRCh38]
Chr2:98354469 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.837+14del deletion ZAP70-Related Severe Combined Immunodeficiency [RCV002835386] Chr2:97733357 [GRCh38]
Chr2:98349820 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1707C>T (p.Tyr569=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002602872] Chr2:97738078 [GRCh38]
Chr2:98354541 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1289+20G>T single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV003028429] Chr2:97735476 [GRCh38]
Chr2:98351939 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.48G>A (p.Ser16=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002810615] Chr2:97724084 [GRCh38]
Chr2:98340547 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.406G>A (p.Glu136Lys) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002938887] Chr2:97725095 [GRCh38]
Chr2:98341558 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1278G>A (p.Leu426=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV003047810] Chr2:97735445 [GRCh38]
Chr2:98351908 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1295A>T (p.Glu432Val) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002856500] Chr2:97737478 [GRCh38]
Chr2:98353941 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1082+9G>A single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV003088188] Chr2:97734721 [GRCh38]
Chr2:98351184 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.129G>C (p.Leu43=) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002898705] Chr2:97724165 [GRCh38]
Chr2:98340628 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.791-17C>T single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV003046105] Chr2:97733280 [GRCh38]
Chr2:98349743 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1214G>A (p.Cys405Tyr) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002833238] Chr2:97735381 [GRCh38]
Chr2:98351844 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.835C>T (p.His279Tyr) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002646746] Chr2:97733341 [GRCh38]
Chr2:98349804 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.702+12G>A single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV003051109] Chr2:97733033 [GRCh38]
Chr2:98349496 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.833C>T (p.Thr278Ile) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV003050210] Chr2:97733339 [GRCh38]
Chr2:98349802 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1075A>T (p.Met359Leu) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV003051925] Chr2:97734705 [GRCh38]
Chr2:98351168 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.403-11_403-10del microsatellite ZAP70-Related Severe Combined Immunodeficiency [RCV003052417] Chr2:97725078..97725079 [GRCh38]
Chr2:98341541..98341542 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.523C>G (p.Arg175Gly) single nucleotide variant Inborn genetic diseases [RCV002607792]|ZAP70-Related Severe Combined Immunodeficiency [RCV002607791] Chr2:97725212 [GRCh38]
Chr2:98341675 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1290-19G>A single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV002635037] Chr2:97737454 [GRCh38]
Chr2:98353917 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.37G>T (p.Gly13Cys) single nucleotide variant Inborn genetic diseases [RCV003256779] Chr2:97724073 [GRCh38]
Chr2:98340536 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.939C>T (p.Ser313=) single nucleotide variant Combined immunodeficiency due to ZAP70 deficiency [RCV003224758] Chr2:97734569 [GRCh38]
Chr2:98351032 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.563+93C>T single nucleotide variant not provided [RCV003227344] Chr2:97725345 [GRCh38]
Chr2:98341808 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1341G>T (p.Met447Ile) single nucleotide variant Inborn genetic diseases [RCV003261500] Chr2:97737524 [GRCh38]
Chr2:98353987 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.493del (p.His165fs) deletion Combined immunodeficiency due to ZAP70 deficiency [RCV003228204] Chr2:97725181 [GRCh38]
Chr2:98341644 [GRCh37]
Chr2:2q11.2
pathogenic
NM_001079.4(ZAP70):c.479G>A (p.Arg160Gln) single nucleotide variant Inborn genetic diseases [RCV003381446] Chr2:97725168 [GRCh38]
Chr2:98341631 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.1015A>G (p.Ile339Val) single nucleotide variant Inborn genetic diseases [RCV003384693] Chr2:97734645 [GRCh38]
Chr2:98351108 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.197A>G (p.Asn66Ser) single nucleotide variant not provided [RCV003481607] Chr2:97724233 [GRCh38]
Chr2:98340696 [GRCh37]
Chr2:2q11.2
uncertain significance
GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3 copy number gain not provided [RCV003484069] Chr2:95773428..102550061 [GRCh37]
Chr2:2q11.1-11.2
likely pathogenic
GRCh37/hg19 2q11.2(chr2:98165095-98974536)x3 copy number gain not provided [RCV003484072] Chr2:98165095..98974536 [GRCh37]
Chr2:2q11.2
uncertain significance
GRCh37/hg19 2q11.1-11.2(chr2:96732520-99142320)x3 copy number gain not provided [RCV003484071] Chr2:96732520..99142320 [GRCh37]
Chr2:2q11.1-11.2
uncertain significance
NM_001079.4(ZAP70):c.1317C>T (p.Ala439=) single nucleotide variant not provided [RCV003436057] Chr2:97737500 [GRCh38]
Chr2:98353963 [GRCh37]
Chr2:2q11.2
likely benign
NM_001079.4(ZAP70):c.1289G>A (p.Arg430Lys) single nucleotide variant ZAP70-related condition [RCV003429049] Chr2:97735456 [GRCh38]
Chr2:98351919 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001079.4(ZAP70):c.17C>T (p.Ala6Val) single nucleotide variant ZAP70-Related Severe Combined Immunodeficiency [RCV003875884] Chr2:97724053 [GRCh38]
Chr2:98340516 [GRCh37]
Chr2:2q11.2
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR34Chsa-miR-34c-5pMirtarbaseexternal_infoImmunoblot//Luciferase reporter assayFunctional MTI21205967
MIR34Chsa-miR-34c-5pOncomiRDBexternal_infoNANA21205967
MIR34Ahsa-miR-34a-5pMirtarbaseexternal_infoImmunoblot//Luciferase reporter assayFunctional MTI21205967
MIR34Bhsa-miR-34b-5pOncomiRDBexternal_infoNANA21205967
MIR34Bhsa-miR-34b-3pMirtarbaseexternal_infoImmunoblot//Luciferase reporter assayFunctional MTI21205967

Predicted Target Of
Summary Value
Count of predictions:2872
Count of miRNA genes:842
Interacting mature miRNAs:1018
Transcripts:ENST00000264972, ENST00000442208, ENST00000451498, ENST00000463643, ENST00000483781, ENST00000487283, ENST00000489250, ENST00000495754, ENST00000498836
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 279 763 200 17 1296 16 88 4 16 26 146 677 2 175 29
Low 1991 1814 1450 571 435 411 3592 1629 3024 282 1183 719 159 1029 2322 1
Below cutoff 110 405 56 26 170 29 611 547 648 89 82 127 3 436 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_207519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007081582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007081583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB083211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC016699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC017099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L05148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S69911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S69912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000264972   ⟹   ENSP00000264972
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl297,713,576 - 97,739,860 (+)Ensembl
RefSeq Acc Id: ENST00000451498   ⟹   ENSP00000400475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl297,734,406 - 97,739,498 (+)Ensembl
RefSeq Acc Id: ENST00000463643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl297,724,461 - 97,739,862 (+)Ensembl
RefSeq Acc Id: ENST00000483781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl297,713,582 - 97,733,782 (+)Ensembl
RefSeq Acc Id: ENST00000487283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl297,732,929 - 97,739,859 (+)Ensembl
RefSeq Acc Id: ENST00000489250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl297,737,822 - 97,738,577 (+)Ensembl
RefSeq Acc Id: ENST00000495754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl297,735,230 - 97,738,011 (+)Ensembl
RefSeq Acc Id: ENST00000498836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl297,732,702 - 97,733,424 (+)Ensembl
RefSeq Acc Id: ENST00000698508   ⟹   ENSP00000513759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl297,713,816 - 97,739,817 (+)Ensembl
RefSeq Acc Id: ENST00000698509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl297,723,897 - 97,739,610 (+)Ensembl
RefSeq Acc Id: NM_001079   ⟹   NP_001070
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38297,713,576 - 97,739,860 (+)NCBI
GRCh37298,330,031 - 98,356,990 (+)NCBI
Build 36297,696,463 - 97,722,755 (+)NCBI Archive
HuRef292,095,689 - 92,121,947 (+)ENTREZGENE
CHM1_1298,334,370 - 98,360,661 (+)NCBI
T2T-CHM13v2.0298,171,790 - 98,198,076 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378594   ⟹   NP_001365523
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38297,713,882 - 97,739,860 (+)NCBI
T2T-CHM13v2.0298,172,096 - 98,198,076 (+)NCBI
Sequence:
RefSeq Acc Id: NM_207519   ⟹   NP_997402
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38297,733,300 - 97,739,860 (+)NCBI
GRCh37298,330,031 - 98,356,990 (+)NCBI
Build 36297,717,301 - 97,722,755 (+)NCBI Archive
HuRef292,095,689 - 92,121,947 (+)ENTREZGENE
CHM1_1298,355,208 - 98,360,661 (+)NCBI
T2T-CHM13v2.0298,191,516 - 98,198,076 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047445774   ⟹   XP_047301730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38297,713,576 - 97,739,860 (+)NCBI
RefSeq Acc Id: XM_047445775   ⟹   XP_047301731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38297,713,576 - 97,756,364 (+)NCBI
RefSeq Acc Id: XM_047445776   ⟹   XP_047301732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38297,713,576 - 97,756,364 (+)NCBI
RefSeq Acc Id: XM_054343796   ⟹   XP_054199771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0298,171,380 - 98,198,076 (+)NCBI
RefSeq Acc Id: XM_054343797   ⟹   XP_054199772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0298,171,200 - 98,198,076 (+)NCBI
RefSeq Acc Id: XM_054343798   ⟹   XP_054199773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0298,171,790 - 98,202,543 (+)NCBI
RefSeq Acc Id: XM_054343799   ⟹   XP_054199774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0298,171,790 - 98,202,543 (+)NCBI
RefSeq Acc Id: XM_054343800   ⟹   XP_054199775
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0298,191,699 - 98,198,076 (+)NCBI
RefSeq Acc Id: XR_007081582
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38297,713,576 - 97,756,364 (+)NCBI
RefSeq Acc Id: XR_007081583
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38297,713,576 - 97,739,860 (+)NCBI
RefSeq Acc Id: XR_008486507
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0298,171,790 - 98,202,543 (+)NCBI
RefSeq Acc Id: XR_008486508
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0298,171,790 - 98,198,076 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001070 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365523 (Get FASTA)   NCBI Sequence Viewer  
  NP_997402 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301730 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301731 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301732 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188971 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188972 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188973 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188974 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188975 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199771 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199772 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199773 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199774 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199775 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH39039 (Get FASTA)   NCBI Sequence Viewer  
  AAH53878 (Get FASTA)   NCBI Sequence Viewer  
  AAX93187 (Get FASTA)   NCBI Sequence Viewer  
  BAC43747 (Get FASTA)   NCBI Sequence Viewer  
  BAG64404 (Get FASTA)   NCBI Sequence Viewer  
  EAX01918 (Get FASTA)   NCBI Sequence Viewer  
  EAX01919 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000264972
  ENSP00000264972.5
  ENSP00000400475
  ENSP00000400475.2
  ENSP00000513759
  ENSP00000513759.1
  ENSP00000517108.1
  ENSP00000517109.1
  ENSP00000517110.1
GenBank Protein P43403 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001070   ⟸   NM_001079
- Peptide Label: isoform 1
- UniProtKB: Q8IXD6 (UniProtKB/Swiss-Prot),   Q6PIA4 (UniProtKB/Swiss-Prot),   A6NFP4 (UniProtKB/Swiss-Prot),   Q9UBS6 (UniProtKB/Swiss-Prot),   P43403 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_997402   ⟸   NM_207519
- Peptide Label: isoform 2
- UniProtKB: P43403 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001365523   ⟸   NM_001378594
- Peptide Label: isoform 1
- UniProtKB: Q8IXD6 (UniProtKB/Swiss-Prot),   Q6PIA4 (UniProtKB/Swiss-Prot),   P43403 (UniProtKB/Swiss-Prot),   A6NFP4 (UniProtKB/Swiss-Prot),   Q9UBS6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000400475   ⟸   ENST00000451498
RefSeq Acc Id: ENSP00000264972   ⟸   ENST00000264972
RefSeq Acc Id: XP_047301731   ⟸   XM_047445775
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047301732   ⟸   XM_047445776
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047301730   ⟸   XM_047445774
- Peptide Label: isoform X1
RefSeq Acc Id: ENSP00000513759   ⟸   ENST00000698508
RefSeq Acc Id: XP_054199772   ⟸   XM_054343797
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054199771   ⟸   XM_054343796
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054199773   ⟸   XM_054343798
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054199774   ⟸   XM_054343799
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054199775   ⟸   XM_054343800
- Peptide Label: isoform X6
Protein Domains
Protein kinase   SH2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P43403-F1-model_v2 AlphaFold P43403 1-619 view protein structure

Promoters
RGD ID:6798479
Promoter ID:HG_KWN:34023
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   Lymphoblastoid
Transcripts:OTTHUMT00000329278,   OTTHUMT00000329279,   UC010FIG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36297,696,256 - 97,696,756 (+)MPROMDB
RGD ID:6798480
Promoter ID:HG_KWN:34024
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000329281,   UC002SYE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36297,706,896 - 97,707,396 (+)MPROMDB
RGD ID:6861114
Promoter ID:EPDNEW_H3722
Type:initiation region
Name:ZAP70_1
Description:zeta chain of T-cell receptor associated protein kinase 70
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38297,713,576 - 97,713,636EPDNEW
RGD ID:6798478
Promoter ID:HG_KWN:34026
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:NM_207519
Position:
Human AssemblyChrPosition (strand)Source
Build 36297,717,246 - 97,717,746 (+)MPROMDB
RGD ID:6798481
Promoter ID:HG_KWN:34028
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:OTTHUMT00000329284
Position:
Human AssemblyChrPosition (strand)Source
Build 36297,719,971 - 97,720,922 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12858 AgrOrtholog
COSMIC ZAP70 COSMIC
Ensembl Genes ENSG00000115085 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000291603 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000264972 ENTREZGENE
  ENST00000264972.10 UniProtKB/Swiss-Prot
  ENST00000451498 ENTREZGENE
  ENST00000451498.2 UniProtKB/Swiss-Prot
  ENST00000698508 ENTREZGENE
  ENST00000698508.1 UniProtKB/Swiss-Prot
  ENST00000708152.1 UniProtKB/Swiss-Prot
  ENST00000708154.1 UniProtKB/Swiss-Prot
  ENST00000708159.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.505.10 UniProtKB/Swiss-Prot
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot
GTEx ENSG00000115085 GTEx
  ENSG00000291603 GTEx
HGNC ID HGNC:12858 ENTREZGENE
Human Proteome Map ZAP70 Human Proteome Map
InterPro Kinase-like_dom_sf UniProtKB/Swiss-Prot
  Kinase_SYK/ZAP-70_inter-SH2_sf UniProtKB/Swiss-Prot
  Prot_kinase_dom UniProtKB/Swiss-Prot
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot
  SH2 UniProtKB/Swiss-Prot
  SH2_dom_sf UniProtKB/Swiss-Prot
  SYK/ZAP-70_N_SH2 UniProtKB/Swiss-Prot
  Tyr_kinase_AS UniProtKB/Swiss-Prot
  Tyr_kinase_cat_dom UniProtKB/Swiss-Prot
  Tyr_kinase_non-rcpt_SYK/ZAP70 UniProtKB/Swiss-Prot
NCBI Gene 7535 ENTREZGENE
OMIM 176947 OMIM
PANTHER TYROSINE-PROTEIN KINASE UniProtKB/Swiss-Prot
  TYROSINE-PROTEIN KINASE ZAP-70 UniProtKB/Swiss-Prot
Pfam Pkinase_Tyr UniProtKB/Swiss-Prot
  SH2 UniProtKB/Swiss-Prot
PharmGKB PA37447 PharmGKB
PIRSF TyrPK_SYK UniProtKB/Swiss-Prot
PRINTS SH2DOMAIN UniProtKB/Swiss-Prot
  TYRKINASE UniProtKB/Swiss-Prot
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot
  PROTEIN_KINASE_TYR UniProtKB/Swiss-Prot
  SH2 UniProtKB/Swiss-Prot
SMART SH2 UniProtKB/Swiss-Prot
  TyrKc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF55550 UniProtKB/Swiss-Prot
  SSF56112 UniProtKB/Swiss-Prot
UniProt A6NFP4 ENTREZGENE
  P43403 ENTREZGENE
  Q6PIA4 ENTREZGENE
  Q8IXD6 ENTREZGENE
  Q9UBS6 ENTREZGENE
  ZAP70_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A6NFP4 UniProtKB/Swiss-Prot
  Q6PIA4 UniProtKB/Swiss-Prot
  Q8IXD6 UniProtKB/Swiss-Prot
  Q9UBS6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-12-19 ZAP70  zeta chain of T cell receptor associated protein kinase 70  ZAP70  zeta chain of T-cell receptor associated protein kinase 70  Symbol and/or name change 5135510 APPROVED
2017-02-07 ZAP70  zeta chain of T-cell receptor associated protein kinase 70  ZAP70  zeta chain of T cell receptor associated protein kinase 70  Symbol and/or name change 5135510 APPROVED
2016-06-28 ZAP70  zeta chain of T cell receptor associated protein kinase 70  ZAP70  zeta chain of T cell receptor associated protein kinase 70kDa  Symbol and/or name change 5135510 APPROVED
2015-11-10 ZAP70  zeta chain of T cell receptor associated protein kinase 70kDa  ZAP70  zeta-chain (TCR) associated protein kinase 70kDa  Symbol and/or name change 5135510 APPROVED