RAG2, recombination activating 2, 5897

N. diseases: 207; N. variants: 44
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs909264507
rs909264507
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C1832322
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive 		A 0.700 GeneticVariation CLINVAR Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. 21624848 2011
dbSNP: rs909264507
rs909264507
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C0398686
Disease:
Primary immune deficiency disorder 		A 0.700 GeneticVariation CLINVAR Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. 21624848 2011
dbSNP: rs773710101
rs773710101
Entrez Id: 5896;5897;119710
Gene Symbol: RAG1;RAG2;IFTAP
RAG1;RAG2;IFTAP
CUI: C0398686
Disease:
Primary immune deficiency disorder 		A 0.700 GeneticVariation CLINVAR Analysis of mutations and recombination activity in RAG-deficient patients. 21131235 2011
dbSNP: rs773710101
rs773710101
Entrez Id: 5896;5897;119710
Gene Symbol: RAG1;RAG2;IFTAP
RAG1;RAG2;IFTAP
CUI: C2700553
Disease:
Omenn Syndrome 		A 0.700 GeneticVariation CLINVAR Analysis of mutations and recombination activity in RAG-deficient patients. 21131235 2011
dbSNP: rs762407838
rs762407838
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C0398686
Disease:
Primary immune deficiency disorder 		T 0.700 GeneticVariation CLINVAR Analysis of mutations and recombination activity in RAG-deficient patients. 21131235 2011
dbSNP: rs762407838
rs762407838
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C2700553
Disease:
Omenn Syndrome 		T 0.700 GeneticVariation CLINVAR Analysis of mutations and recombination activity in RAG-deficient patients. 21131235 2011
dbSNP: rs757797994
rs757797994
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C0029118
Disease:
Opportunistic Infections 		0.010 GeneticVariation BEFREE Compound heterozygous mutations in RAG1 (1) c.1566G>T, p.W522C and (2) c.2689C>T, p. R897X) were documented in a second patient post-mortem following a fatal opportunistic infection. 25516070 2015
dbSNP: rs754502950
rs754502950
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C1832322
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive 		G 0.700 CausalMutation CLINVAR V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. 11133745 2001
dbSNP: rs754502950
rs754502950
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		G 0.700 CausalMutation CLINVAR V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. 11133745 2001
dbSNP: rs754502950
rs754502950
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs754502950
rs754502950
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C1835931
Disease:
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs754502950
rs754502950
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		G 0.700 CausalMutation CLINVAR A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency. 24290284 2014
dbSNP: rs754502950
rs754502950
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C1832322
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive 		G 0.700 CausalMutation CLINVAR A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency. 24290284 2014
dbSNP: rs754502950
rs754502950
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C2700553
Disease:
Omenn Syndrome 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs754502950
rs754502950
Entrez Id: 5896;5897
Gene Symbol: RAG1;RAG2
RAG1;RAG2
CUI: C1832322
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs754413772
rs754413772
Entrez Id: 5896;5897;119710
Gene Symbol: RAG1;RAG2;IFTAP
RAG1;RAG2;IFTAP
CUI: C2700553
Disease:
Omenn Syndrome 		G 0.700 GeneticVariation CLINVAR RAG-dependent primary immunodeficiencies. 16960852 2006
dbSNP: rs754413772
rs754413772
Entrez Id: 5896;5897;119710
Gene Symbol: RAG1;RAG2;IFTAP
RAG1;RAG2;IFTAP
CUI: C0398686
Disease:
Primary immune deficiency disorder 		G 0.700 GeneticVariation CLINVAR RAG-dependent primary immunodeficiencies. 16960852 2006
dbSNP: rs748727021
rs748727021
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C1832322
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive 		A 0.700 CausalMutation CLINVAR RAG-dependent primary immunodeficiencies. 16960852 2006
dbSNP: rs748727021
rs748727021
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		A 0.700 CausalMutation CLINVAR Crystal structure of the V(D)J recombinase RAG1-RAG2. 25707801 2015
dbSNP: rs748727021
rs748727021
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C1832322
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive 		A 0.700 CausalMutation CLINVAR A direct interaction between the RAG2 C terminus and the core histones is required for efficient V(D)J recombination. 16111638 2005
dbSNP: rs748727021
rs748727021
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		A 0.700 CausalMutation CLINVAR Disruption of the RAG2 zinc finger motif impairs protein stability and causes immunodeficiency. 26692406 2016
dbSNP: rs748727021
rs748727021
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C1832322
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive 		A 0.700 CausalMutation CLINVAR V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. 11133745 2001
dbSNP: rs748727021
rs748727021
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C1832322
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive 		A 0.700 CausalMutation CLINVAR Crystal structure of the V(D)J recombinase RAG1-RAG2. 25707801 2015
dbSNP: rs748727021
rs748727021
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		A 0.700 CausalMutation CLINVAR RAG-dependent primary immunodeficiencies. 16960852 2006
dbSNP: rs748727021
rs748727021
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C1832322
Disease:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive 		A 0.700 CausalMutation CLINVAR Disruption of the RAG2 zinc finger motif impairs protein stability and causes immunodeficiency. 26692406 2016