MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Immunologic Deficiency Syndromes (D007153)
..Starting node ..IMMUNODEFICIENCY 48 (OMIM:269840)
Child Nodes:
Sister Nodes:
..Activated PI3K-delta Syndrome (C585640)
..Agammaglobulinemia (D000361) 19
..Antibody Deficiency due to Defect in CD19 (C566275)
..Ataxia Telangiectasia (D001260) 6
..AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED (OMIM:614878)
..B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..C1q DEFICIENCY (OMIM:613652)
..C9 Deficiency (C565165)
..C9 Deficiency with Dermatomyositis (C565166)
..Cartilage hair hypoplasia like syndrome (C535915)
..Cartilage-hair hypoplasia (C535916)
..Cd4+ Lymphocyte Deficiency (C566079)
..CD8 Deficiency, Familial (C563824)
..Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (C564307)
..Combined Inflammatory and Immunologic Defect (C565684)
..Common Variable Immunodeficiency (D017074)
..COMPLEMENT COMPONENT 2 DEFICIENCY (OMIM:217000)
..Complement Component 3 Deficiency, Autosomal Recessive (C565169)
..Complement Component 4, Partial Deficiency Of (C565168)
..Complement Component 4a Deficiency (C565167)
..COMPLEMENT COMPONENT 4B DEFICIENCY (OMIM:614379)
..Complement component 5 deficiency (C537005)
..Complement Component 6 Deficiency (C567307)
..Complement Component 7 Deficiency (C566443)
..COMPLEMENT COMPONENT C1r/C1s DEFICIENCY (OMIM:216950)
..Complement Component C1s Deficiency (C565170)
..COMPLEMENT FACTOR B DEFICIENCY (OMIM:615561)
..Complement Factor D Deficiency (C565027)
..Davenport Donlan syndrome (C535988)
..Deltaretrovirus Infections (D006800) 4
..Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency (C565099)
..Dysgammaglobulinemia (D004406) 11
..Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant (C567411)
..Ectodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
..Endotoxin Hyporesponsiveness (C566417)
..Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency (C563949)
..ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
..FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE (OMIM:615139)
..Fanconi like syndrome (C536855)
..FICOLIN 3 DEFICIENCY (OMIM:613860)
..Griscelli syndrome type 2 (C537302)
..Hepatic venoocclusive disease with immunodeficiency (C537257)
..HIV Infections (D015658) 12
..Hypoglobulinemia and Absent B Cells (C565765)
..Immune Deficiency Disease (C565469)
..Immune Deficiency, Familial Variable (C564136)
..IMMUNODEFICIENCY 11 (OMIM:615206)
..IMMUNODEFICIENCY 12 (OMIM:615468)
..IMMUNODEFICIENCY 14 (OMIM:615513)
..IMMUNODEFICIENCY 15B (OMIM:615592)
..IMMUNODEFICIENCY 16 (OMIM:615593)
..IMMUNODEFICIENCY 17 (OMIM:615607)
..IMMUNODEFICIENCY 18 (OMIM:615615)
..IMMUNODEFICIENCY 19 (OMIM:615617)
..IMMUNODEFICIENCY 20 (OMIM:615707)
..IMMUNODEFICIENCY 21 (OMIM:614172)
..IMMUNODEFICIENCY 22 (OMIM:615758)
..IMMUNODEFICIENCY 23 (OMIM:615816)
..IMMUNODEFICIENCY 24 (OMIM:615897)
..IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES (OMIM:615966)
..IMMUNODEFICIENCY 27B (OMIM:615978)
..IMMUNODEFICIENCY 28 (OMIM:614889)
..IMMUNODEFICIENCY 29 (OMIM:614890)
..IMMUNODEFICIENCY 30 (OMIM:614891)
..IMMUNODEFICIENCY 31A (OMIM:614892)
..IMMUNODEFICIENCY 31B (OMIM:613796)
..IMMUNODEFICIENCY 31C (OMIM:614162)
..IMMUNODEFICIENCY 32A (OMIM:614893)
..IMMUNODEFICIENCY 32B (OMIM:226990)
..IMMUNODEFICIENCY 36 (OMIM:616005)
..IMMUNODEFICIENCY 37 (OMIM:616098)
..IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION (OMIM:616126)
..IMMUNODEFICIENCY 39 (OMIM:616345)
..IMMUNODEFICIENCY 40 (OMIM:616433)
..IMMUNODEFICIENCY 42 (OMIM:616622)
..IMMUNODEFICIENCY 44 (OMIM:616636)
..IMMUNODEFICIENCY 45 (OMIM:616669)
..IMMUNODEFICIENCY 46 (OMIM:616740)
..IMMUNODEFICIENCY 47 (OMIM:300972)
..IMMUNODEFICIENCY 48 (OMIM:269840)
..IMMUNODEFICIENCY 49 (OMIM:617237)
..IMMUNODEFICIENCY 50 (OMIM:300988)
..IMMUNODEFICIENCY 51 (OMIM:613953)
..IMMUNODEFICIENCY 54 (OMIM:609981)
..IMMUNODEFICIENCY 56 (OMIM:615207)
..IMMUNODEFICIENCY 8 (OMIM:615401)
..Immunodeficiency due to Defect in CD3-Epsilon (C566082)
..Immunodeficiency due to Defect in CD3-Gamma (C566083)
..Immunodeficiency due to Defect in CD3-Zeta (C565712)
..Immunodeficiency due to Defect in MAPBP-Interacting Protein (C563663)
..Immunodeficiency syndrome, variable (C537362) 1
..Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist (C564135)
..Immunodeficiency without anhidrotic ectodermal dysplasia (C536289)
..Immunodeficiency, Gonadal Dysgenesis, And Pulmonary Fibrosis (C567457)
..Immunodeficiency, Hypogammaglobulinemia, and Reduced B Cells (C567200)
..Immunodeficiency, Partial Combined, with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes (C565468)
..Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein (C564120)
..IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY (OMIM:614102)
..Inosine Phosphorylase Deficiency, Immune Defect Due To (C565465)
..Interleukin 2 Receptor, Alpha, Deficiency of (C565232)
..Invasive Pneumococcal Disease, Recurrent Isolated, 1 (C563662)
..Invasive Pneumococcal Disease, Recurrent Isolated, 2 (C564468)
..IRAK4 Deficiency (C564352)
..Kappa-Chain Deficiency (C564131)
..Kotzot-Richter syndrome (C537025)
..Leukocyte-Adhesion Deficiency Syndrome (D018370) 2
..Lichtenstein syndrome (C535894)
..LIG4 Syndrome (C564694)
..LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
..Lymphoblastic Transformation, Intrinsic Defect in (C565431)
..Lymphoid System Deterioration, Progressive (C565430)
..Lymphokine Deficiency (C565428)
..Lymphopenia (D008231) 5
..Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis (C565427)
..MASP2 Deficiency (C565360)
..MYD88 Deficiency (C567379)
..Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..Natural Killer Cell Deficiency, Familial Isolated (C566492)
..NEMO mutation with immunodeficiency (C538399)
..Neutrophil Immunodeficiency Syndrome (C564275)
..Phagocyte Bactericidal Dysfunction (D010585) 14
..Properdin Deficiency, Type II (C564075)
..Properdin Deficiency, Type III (C564076)
..Riddle Syndrome (C567453)
..Roifman syndrome (C535866)
..Roifman-Chitayat Syndrome (C567641)
..Schimke immunoosseous dysplasia (C536629)
..Severe Combined Immunodeficiency (D016511) 22 C:1
..Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive (C563311)
..Splenic Hypoplasia (C563028)
..T cell immunodeficiency primary (C536780)
..T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
..T-Cell OKT4 Deficiency (C566080)
..T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
..Thumb Agenesis, Short Stature, And Immunodeficiency (C564770)
..Thymic aplasia (C536288)
..Tuftsin Deficiency (C562872)
..WHIM syndrome (C536697)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

6283

Name:

IMMUNODEFICIENCY 48

Definition:

Alternative IDs:

ParentIDs:

MESH:D007153

TreeNumbers:

C20.673/269840

Synonyms:

IMD48 |SELECTIVE T-CELL DEFECT |STCD

Slim Mappings:

Immune system disease

Reference:

MedGen: 269840
MeSH: 269840
OMIM: 269840;
MSeqDR :
Genes: ZAP70;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002014	Diarrhea
3	HP:0000976	Eczematoid dermatitis
4	HP:0001508	Failure to thrive
5	HP:0002240	Hepatomegaly
6	HP:0003139	Panhypogammaglobulinemia
7	HP:0002090	Pneumonia
8	HP:0005401	Recurrent candida infections
9	HP:0001744	Splenomegaly

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001079.3(ZAP70):c.-217G>A	7535	ZAP70	Uncertain significance	201824270	RCV001137134;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98330021	98330021	2:g.98330021G>A	-
NM_001079.4(ZAP70):c.-186C>A	7535	ZAP70	Benign	2276645	RCV000357744\|RCV001764308;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C3661900	2	98330052	98330052	NC_000002.11:g.98330052C>A	ClinGen:CA10616595	CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.-177C>A	7535	ZAP70	Likely benign	56408911	RCV000267490;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98330061	98330061	NC_000002.11:g.98330061C>A	ClinGen:CA10616495	CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.-133C>T	7535	ZAP70	Uncertain significance	201616095	RCV000322861;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98330105	98330105	NC_000002.11:g.98330105C>T	ClinGen:CA10614269	CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.-91T>A	7535	ZAP70	Benign	199757796	RCV000354299;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98330388	98330388	NC_000002.11:g.98330388T>A	ClinGen:CA10614682	CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.-59T>C	7535	ZAP70	Benign	55637939	RCV000319244;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98330420	98330420	NC_000002.11:g.98330420T>C	ClinGen:CA10616601	CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.80C>A (p.Ala27Glu)	7535	ZAP70	Uncertain significance	373708142	RCV000800529\|RCV001139372;	N	MedGen:C2931299\|MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98340579	98340579	2:g.98340579C>A	-
NM_001079.4(ZAP70):c.105G>A (p.Leu35=)	7535	ZAP70	Benign	56127120	RCV000374109\|RCV000527243\|RCV000603288;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C2931299\|MedGen:CN169374	2	98340604	98340604	NC_000002.11:g.98340604G>A	ClinGen:CA1790018	CN169374 not specified;
NM_001079.4(ZAP70):c.156C>T (p.His52=)	7535	ZAP70	Conflicting interpretations of pathogenicity	138447206	RCV000293628\|RCV000876759;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C2931299	2	98340655	98340655	NC_000002.11:g.98340655C>T	ClinGen:CA1790026	CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.199G>T (p.Gly67Cys)	7535	ZAP70	Uncertain significance	745420613	RCV001139373;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98340698	98340698	2:g.98340698G>T	-
NM_001079.4(ZAP70):c.239C>A (p.Pro80Gln)	7535	ZAP70	Uncertain significance	113994172	RCV000032162\|RCV001852638;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C2931299	2	98340738	98340738	2:g.98340738C>A	ClinGen:CA343167	C1837065 608957 Cd8 deficiency, familial;
NM_001079.4(ZAP70):c.403-3T>C	7535	ZAP70	Uncertain significance	202193449	RCV001047967\|RCV001141987;	N	MedGen:C2931299\|MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98341552	98341552	2:g.98341552T>C	-
NM_001079.4(ZAP70):c.447G>A (p.Val149=)	7535	ZAP70	Benign	61735392	RCV000330002\|RCV000542333;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C2931299	2	98341599	98341599	NC_000002.11:g.98341599G>A	ClinGen:CA1790097	CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.467C>G (p.Thr156Arg)	7535	ZAP70	Uncertain significance	1266171275	RCV001141988;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98341619	98341619	2:g.98341619C>G	-
NM_001079.4(ZAP70):c.474C>T (p.His158=)	7535	ZAP70	Benign/Likely benign	56404668	RCV000889539\|RCV001141989\|RCV001269100;	N	MedGen:C2931299\|MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:CN169374	2	98341626	98341626	2:g.98341626C>T	-
NM_001079.4(ZAP70):c.493del (p.His165fs)	7535	ZAP70	Pathogenic	-1	RCV003228204;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98341644	98341644		-
NM_001079.4(ZAP70):c.512A>G (p.Glu171Gly)	7535	ZAP70	Benign/Likely benign	199631517	RCV001141990\|RCV001514782\|RCV002497555;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C2931299\|MONDO:MONDO:0014861,MedGen:C4310768,OMIM:617006; MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98341664	98341664	2:g.98341664A>G	-
NM_001079.4(ZAP70):c.516G>A (p.Glu172=)	7535	ZAP70	Uncertain significance	886056485	RCV000389187;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98341668	98341668	2:g.98341668G>A	ClinGen:CA10616602	CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.531T>C (p.Leu177=)	7535	ZAP70	Benign	115846138	RCV000552712\|RCV001141991;	N	MedGen:C2931299\|MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98341683	98341683	NC_000002.11:g.98341683T>C	ClinGen:CA1790112	C1849236 269840 Severe combined immunodeficiency, atypical;
NM_001079.4(ZAP70):c.563+13C>G	7535	ZAP70	Benign	2289918	RCV000126353\|RCV000294932\|RCV001510755;	N	MedGen:CN169374\|MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C2931299	2	98341728	98341728	2:g.98341728C>G	ClinGen:CA291660	CN169374 not specified;
NM_001079.4(ZAP70):c.574C>T (p.Arg192Trp)	7535	ZAP70	Conflicting interpretations of pathogenicity	199840952	RCV000208562\|RCV000227350\|RCV001559120\|RCV001853323;	N	Human Phenotype Ontology:HP:0005387,MONDO:MONDO:0015131,MedGen:C2711630, Orphanet:101972\|MONDO:MONDO:0014861,MedGen:C4310768,OMIM:617006\|MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C2931299	2	98349356	98349356	2:g.98349356C>T	ClinGen:CA070999,UniProtKB:P43403#VAR_077137,OMIM:176947.0006	C4310768 617006 Autoimmune disease, multisystem, infantile-onset, 2;
NM_001079.4(ZAP70):c.606C>T (p.Leu202=)	7535	ZAP70	Conflicting interpretations of pathogenicity	199943332	RCV000345216\|RCV002057724;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C2931299	2	98349388	98349388	2:g.98349388C>T	ClinGen:CA1790152	CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.655G>A (p.Gly219Ser)	7535	ZAP70	Uncertain significance	200295650	RCV001143801;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98349437	98349437	2:g.98349437G>A	-
NM_001079.4(ZAP70):c.672C>T (p.Pro224=)	7535	ZAP70	Benign/Likely benign	56340622	RCV000407147\|RCV000531118\|RCV001711955;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C2931299\|MedGen:C3661900	2	98349454	98349454	2:g.98349454C>T	ClinGen:CA1790167	CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.729G>A (p.Ala243=)	7535	ZAP70	Conflicting interpretations of pathogenicity	754793583	RCV001143802\|RCV002070732;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C2931299	2	98349614	98349614	2:g.98349614G>A	-
NM_001079.4(ZAP70):c.732C>T (p.Asp244=)	7535	ZAP70	Benign/Likely benign	201683657	RCV002104950\|RCV002494197;	N	MedGen:C2931299\|MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911; MONDO:MONDO:0014861,MedGen:C4310768,OMIM:617006	2	98349617	98349617	98349617	-
NM_001079.4(ZAP70):c.790+6G>A	7535	ZAP70	Uncertain significance	200018109	RCV001143803\|RCV001858944;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C2931299	2	98349681	98349681	2:g.98349681G>A	-
NM_001079.4(ZAP70):c.810C>T (p.Leu270=)	7535	ZAP70	Benign/Likely benign	143181735	RCV000291544\|RCV000873145;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C2931299	2	98349779	98349779	2:g.98349779C>T	ClinGen:CA1790243	CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.828G>A (p.Thr276=)	7535	ZAP70	Conflicting interpretations of pathogenicity	200797733	RCV000876626\|RCV001143804;	N	MedGen:C2931299\|MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98349797	98349797	2:g.98349797G>A	-
NM_001079.4(ZAP70):c.837+6T>C	7535	ZAP70	Uncertain significance	199639189	RCV000340630\|RCV001217927;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C2931299	2	98349812	98349812	2:g.98349812T>C	ClinGen:CA1790248	CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.838-80G>A	7535	ZAP70	not provided	113994173	RCV000033937;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98349927	98349927	2:g.98349927G>A	ClinGen:CA343936	C1849236 269840 Severe combined immunodeficiency, atypical;
NM_001079.4(ZAP70):c.920C>T (p.Pro307Leu)	7535	ZAP70	Uncertain significance	201386206	RCV001137244\|RCV001856754;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C2931299	2	98351013	98351013	2:g.98351013C>T	-
NM_001079.4(ZAP70):c.939C>G (p.Ser313Arg)	7535	ZAP70	Likely benign	145218891	RCV000876082\|RCV001137245;	N	MedGen:C2931299\|MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98351032	98351032	2:g.98351032C>G	-
NM_001079.4(ZAP70):c.939C>T (p.Ser313=)	7535	ZAP70	Uncertain significance	-1	RCV003224758;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911; MONDO:MONDO:0014861,MedGen:C4310768,OMIM:617006	2	98351032	98351032		-
NM_001079.4(ZAP70):c.981C>G (p.Asp327Glu)	7535	ZAP70	Conflicting interpretations of pathogenicity	201605654	RCV000707711\|RCV001137246\|RCV003141712;	N	MedGen:C2931299\|MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:CN517202	2	98351074	98351074	NC_000002.11:g.98351074C>G	-	C2931299 ZAP70-Related Severe Combined Immunodeficiency;
NM_001079.4(ZAP70):c.988C>T (p.Leu330Phe)	7535	ZAP70	Uncertain significance	371574765	RCV000815944\|RCV001137247\|RCV002495152;	N	MedGen:C2931299\|MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911; MONDO:MONDO:0014861,MedGen:C4310768,OMIM:617006	2	98351081	98351081	2:g.98351081C>T	-
NM_001079.4(ZAP70):c.1025T>C (p.Ile342Thr)	7535	ZAP70	Conflicting interpretations of pathogenicity	142702703	RCV000405371\|RCV000548850\|RCV000596304\|RCV003226285;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C2931299\|MedGen:C3661900\|MedGen:CN169374	2	98351118	98351118	2:g.98351118T>C	ClinGen:CA1790343	CN169374 not specified;
NM_001079.4(ZAP70):c.1065C>T (p.Gly355=)	7535	ZAP70	not provided	201207626	RCV001731179;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98351158	98351158	98351158	-
NM_001079.4(ZAP70):c.1078C>T (p.Arg360Cys)	7535	ZAP70	Uncertain significance	781463009	RCV000788154\|RCV001071941\|RCV001137248\|RCV003413582;	N	MedGen:C3661900\|MedGen:C2931299\|MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|	2	98351171	98351171	2:g.98351171C>T	-
NM_001079.4(ZAP70):c.1079G>C (p.Arg360Pro)	7535	ZAP70	Pathogenic	869025224	RCV000208547\|RCV000233631\|RCV001559121;	N	Human Phenotype Ontology:HP:0005387,MONDO:MONDO:0015131,MedGen:C2711630, Orphanet:101972\|MONDO:MONDO:0014861,MedGen:C4310768,OMIM:617006\|MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98351172	98351172	NC_000002.11:g.98351172G>C	ClinGen:CA352138,UniProtKB:P43403#VAR_077138,OMIM:176947.0007	C4310768 617006 Autoimmune disease, multisystem, infantile-onset, 2;
NM_001079.4(ZAP70):c.1082+8C>T	7535	ZAP70	Conflicting interpretations of pathogenicity	55933862	RCV000542141\|RCV000768141\|RCV001262573;	N	MedGen:C2931299\|MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911; MONDO:MONDO:0014861,MedGen:C4310768,OMIM:617006\|MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98351183	98351183	NC_000002.11:g.98351183C>T	ClinGen:CA1790351	C1849236 269840 Severe combined immunodeficiency, atypical;
NM_001079.4(ZAP70):c.1083-3C>A	7535	ZAP70	Uncertain significance	199890589	RCV000305518;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98351710	98351710	2:g.98351710C>A	ClinGen:CA10614278	CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.1289+10G>A	7535	ZAP70	Conflicting interpretations of pathogenicity	200538234	RCV000647925\|RCV001329565\|RCV002261156;	N	MedGen:C2931299\|MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C3661900	2	98351929	98351929	2:g.98351929G>A	ClinGen:CA1790417	C1849236 269840 Severe combined immunodeficiency, atypical;
NM_001079.4(ZAP70):c.1392C>A (p.Ala464=)	7535	ZAP70	Conflicting interpretations of pathogenicity	1289751768	RCV001137249\|RCV002070603;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C2931299	2	98354038	98354038	2:g.98354038C>A	-
NM_001079.4(ZAP70):c.1393C>T (p.Arg465Cys)	7535	ZAP70	not provided	113994174	RCV000032160;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98354039	98354039	2:g.98354039C>T	ClinGen:CA343162,UniProtKB:P43403#VAR_065624	C1849236 269840 Severe combined immunodeficiency, atypical;
NM_001079.4(ZAP70):c.1394G>A (p.Arg465His)	7535	ZAP70	Uncertain significance	137853201	RCV000033214\|RCV001305022;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C2931299	2	98354040	98354040	2:g.98354040G>A	ClinGen:CA261254,UniProtKB:P43403#VAR_015538,OMIM:176947.0005	C1849236 269840 Severe combined immunodeficiency, atypical;
NM_001079.4(ZAP70):c.1467C>T (p.Asp489=)	7535	ZAP70	Conflicting interpretations of pathogenicity	55997284	RCV000440355\|RCV000647921\|RCV001139497\|RCV001702779;	N	MedGen:CN169374\|MedGen:C2931299\|MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C3661900	2	98354113	98354113	2:g.98354113C>T	ClinGen:CA1790463	CN169374 not specified;
NM_001079.4(ZAP70):c.1482+11G>T	7535	ZAP70	Benign	17488834	RCV000126354\|RCV000360286\|RCV001514777;	N	MedGen:CN169374\|MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C2931299	2	98354139	98354139	2:g.98354139G>T	ClinGen:CA291661	CN169374 not specified;
NM_001079.4(ZAP70):c.1510_1522del (p.Lys504fs)	7535	ZAP70	Pathogenic	730880319	RCV000014164;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98354246	98354258	NC_000002.11:g.98354247_98354259del	ClinGen:CA256744,OMIM:176947.0004	C1849236 269840 Severe combined immunodeficiency, atypical;
NM_001079.4(ZAP70):c.1554C>A (p.Ser518Arg)	7535	ZAP70	Pathogenic	104893674	RCV000033208;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98354291	98354291	2:g.98354291C>A	ClinGen:CA261252,UniProtKB:P43403#VAR_006351,OMIM:176947.0003	C1849236 269840 Severe combined immunodeficiency, atypical;
NM_001079.4(ZAP70):c.1617C>T (p.Pro539=)	7535	ZAP70	Conflicting interpretations of pathogenicity	189807102	RCV000404835\|RCV001412237;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C2931299	2	98354354	98354354	2:g.98354354C>T	ClinGen:CA1790505	CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.1624-12C>T	7535	ZAP70	Conflicting interpretations of pathogenicity	201487332	RCV001139498\|RCV001712857\|RCV002070658;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C3661900\|MedGen:C2931299	2	98354446	98354446	2:g.98354446C>T	-
NM_001079.4(ZAP70):c.1624-11G>A	7535	ZAP70	Pathogenic	730880318	RCV000014158\|RCV000726208\|RCV001851845\|RCV003390681;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C3661900\|MedGen:C2931299\|	2	98354447	98354447	NC_000002.11:g.98354447G>A	ClinGen:CA256743,OMIM:176947.0001,OMIM:176947.0002	C1849236 269840 Severe combined immunodeficiency, atypical;
NM_001079.4(ZAP70):c.1645A>G (p.Met549Val)	7535	ZAP70	Uncertain significance	150950017	RCV000297141\|RCV001055985\|RCV001508451\|RCV002504136;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C2931299\|MedGen:CN517202\|MONDO:MONDO:0014861,MedGen:C4310768,OMIM:617006; MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98354479	98354479	2:g.98354479A>G	ClinGen:CA1790529	CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.1656C>T (p.Ile552=)	7535	ZAP70	Conflicting interpretations of pathogenicity	150096962	RCV000553616\|RCV001139499\|RCV001702677;	N	MedGen:C2931299\|MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C3661900	2	98354490	98354490	2:g.98354490C>T	ClinGen:CA1790532	C1849236 269840 Severe combined immunodeficiency, atypical;
NM_001079.4(ZAP70):c.1677G>A (p.Glu559=)	7535	ZAP70	Benign	3192177	RCV000126355\|RCV000356778\|RCV001514778\|RCV001824626;	N	MedGen:CN169374\|MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C2931299\|MedGen:C3661900	2	98354511	98354511	2:g.98354511G>A	ClinGen:CA291662	CN169374 not specified;
NM_001079.4(ZAP70):c.1714A>T (p.Met572Leu)	7535	ZAP70	not provided	113994175	RCV000032161;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98354548	98354548	2:g.98354548A>T	ClinGen:CA343164	C1837065 608957 Cd8 deficiency, familial;
NM_001079.4(ZAP70):c.1737-7C>T	7535	ZAP70	Uncertain significance	1573292727	RCV001139500;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98355831	98355831	2:g.98355831C>T	-
NM_001079.4(ZAP70):c.1737-3C>T	7535	ZAP70	Conflicting interpretations of pathogenicity	56249179	RCV000261970\|RCV000527470\|RCV001553701;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C2931299\|MedGen:CN169374	2	98355835	98355835	2:g.98355835C>T	ClinGen:CA1790565	CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.1832C>T (p.Thr611Ile)	7535	ZAP70	Uncertain significance	371359430	RCV000330929\|RCV000796429;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C2931299	2	98355933	98355933	2:g.98355933C>T	ClinGen:CA1790585	CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.*11C>A	7535	ZAP70	Uncertain significance	200035333	RCV001140262;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98355972	98355972	2:g.98355972C>A	-
NM_001079.4(ZAP70):c.*29G>A	7535	ZAP70	Benign	11678558	RCV000366961\|RCV001613101\|RCV003401360;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C3661900\|MedGen:CN169374	2	98355990	98355990	2:g.98355990G>A	ClinGen:CA1790598	CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.*48C>T	7535	ZAP70	Uncertain significance	1411918610	RCV001140263;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98356009	98356009	2:g.98356009C>T	-
NM_001079.4(ZAP70):c.*161G>A	7535	ZAP70	Uncertain significance	886056486	RCV000276899;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98356122	98356122	2:g.98356122G>A	ClinGen:CA10616604	CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.*228G>A	7535	ZAP70	Uncertain significance	199863225	RCV001140264;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98356189	98356189	2:g.98356189G>A	-
NM_001079.4(ZAP70):c.*274G>A	7535	ZAP70	Uncertain significance	55721260	RCV001140265;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98356235	98356235	2:g.98356235G>A	-
NM_001079.4(ZAP70):c.*289G>C	7535	ZAP70	Benign	2278699	RCV000331946\|RCV001618594;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911\|MedGen:C3661900	2	98356250	98356250	2:g.98356250G>C	ClinGen:CA10616502	CN239264 Severe Combined Immune Deficiency;
NM_001079.4(ZAP70):c.*328C>T	7535	ZAP70	Uncertain significance	201790312	RCV000382112;	N	MONDO:MONDO:0010023,MedGen:C5575025,OMIM:269840, Orphanet:911	2	98356289	98356289	2:g.98356289C>T	ClinGen:CA10616504	CN239264 Severe Combined Immune Deficiency;

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