RAG1 (recombination activating 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: RAG1 (recombination activating 1) Homo sapiens
Analyze
Symbol: RAG1
Name: recombination activating 1
RGD ID: 1317876
HGNC Page HGNC:9831
Description: Predicted to enable several functions, including protein homodimerization activity; ubiquitin protein ligase activity; and zinc ion binding activity. Predicted to contribute to double-stranded DNA endodeoxyribonuclease activity. Involved in V(D)J recombination. Predicted to be located in nucleoplasm. Predicted to be part of DNA recombinase complex and endodeoxyribonuclease complex. Predicted to be active in nucleus. Implicated in Omenn syndrome; combined cellular and humoral immune defects with granulomas; severe combined immunodeficiency; and severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MGC43321; RAG-1; recombination activating gene 1; recombination activating protein 1; RING finger protein 74; RNF74; V(D)J recombination-activating protein 1
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
GRCh381136,510,353 - 36,579,762 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1136,510,372 - 36,593,156 (+)EnsemblGRCh38hg38GRCh38
GRCh371136,531,903 - 36,601,312 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361136,546,139 - 36,557,851 (+)NCBINCBI36hg18NCBI36
Build 341136,546,138 - 36,557,871NCBI
Celera1136,741,994 - 36,753,743 (+)NCBI
Cytogenetic Map11p12NCBI
HuRef1136,292,349 - 36,304,098 (+)NCBIHuRef
CHM1_11136,588,249 - 36,599,998 (+)NCBICHM1_1
T2T-CHM13v2.01136,653,524 - 36,722,938 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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 lymphocyte morphology  (IAGP)
Abnormal natural killer cell count  (IAGP)
Abnormality of the metaphysis  (IAGP)
Alopecia  (IAGP)
Anemia  (IAGP)
Aplasia/Hypoplasia of the eyebrow  (IAGP)
Arthritis  (IAGP)
Autoimmune hemolytic anemia  (IAGP)
Autoimmunity  (IAGP)
Autosomal recessive inheritance  (IAGP)
B lymphocytopenia  (IAGP)
Chronic diarrhea  (IAGP)
Combined immunodeficiency  (IAGP)
Conjunctivitis  (IAGP)
Decreased circulating IgA level  (IAGP)
Decreased circulating IgG level  (IAGP)
Decreased circulating total IgM  (IAGP)
Decreased lymphocyte proliferation in response to mitogen  (IAGP)
Decreased proportion of CD3-positive T cells  (IAGP)
Desquamation of skin soon after birth  (IAGP)
Diarrhea  (IAGP)
Dry skin  (IAGP)
Edema  (IAGP)
Elevated hepatic transaminase  (IAGP)
Eosinophilia  (IAGP)
Erythroderma  (IAGP)
Failure to thrive  (IAGP)
Failure to thrive secondary to recurrent infections  (IAGP)
Fever  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
Hypoplasia of the thymus  (IAGP)
Hypoproteinemia  (IAGP)
Hypothyroidism  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Interstitial pneumonitis  (IAGP)
Lymphadenitis  (IAGP)
Lymphadenopathy  (IAGP)
Lymphoma  (IAGP)
Lymphopenia  (IAGP)
Mastoiditis  (IAGP)
Meningitis  (IAGP)
Microcephaly  (IAGP)
Nephrotic syndrome  (IAGP)
Neutropenia in presence of anti-neutropil antibodies  (IAGP)
Otitis media  (IAGP)
Pallor  (IAGP)
Panhypogammaglobulinemia  (IAGP)
Pneumonia  (IAGP)
Protracted diarrhea  (IAGP)
Pruritus  (IAGP)
Purulent rhinitis  (IAGP)
Recurrent bacterial infections  (IAGP)
Recurrent enteroviral infections  (IAGP)
Recurrent fungal infections  (IAGP)
Recurrent opportunistic infections  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent upper and lower respiratory tract infections  (IAGP)
Recurrent viral infections  (IAGP)
Reduced antigen-specific T cell proliferation  (IAGP)
Sepsis  (IAGP)
Severe B lymphocytopenia  (IAGP)
Severe combined immunodeficiency  (IAGP)
Short toe  (IAGP)
Skin rash  (IAGP)
Splenomegaly  (IAGP)
T lymphocytopenia  (IAGP)
Thickened skin  (IAGP)
Thrombocytopenia  (IAGP)
Thyroiditis  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. GENETIC MUTATION OF RECOMBINATION ACTIVATING GENE 1 IN DAHL SALT-SENSITIVE RATS ATTENUATES HYPERTENSION AND RENAL DAMAGE. Mattson DL, etal., Am J Physiol Regul Integr Comp Physiol. 2013 Jan 30.
3. Generation of Rag1-knockout immunodeficient rats and mice using engineered meganucleases. Menoret S, etal., FASEB J. 2012 Nov 12.
4. Generation of immunodeficient rats with Rag1 and Il2rg gene deletions and human tissue grafting models. Ménoret S, etal., Transplantation. 2018 Apr 24. doi: 10.1097/TP.0000000000002251.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. RAG mutations in human B cell-negative SCID. Schwarz K, etal., Science. 1996 Oct 4;274(5284):97-9.
11. Partial V(D)J recombination activity leads to Omenn syndrome. Villa A, etal., Cell. 1998 May 29;93(5):885-96.
12. Zinc-finger nuclease mediated disruption of Rag1 in the LEW/Ztm rat. Zschemisch NH, etal., BMC Immunol. 2012 Nov 8;13:60. doi: 10.1186/1471-2172-13-60.
Additional References at PubMed
PMID:1283330   PMID:1612612   PMID:2598259   PMID:8016130   PMID:8052633   PMID:8777717   PMID:8844221   PMID:9036966   PMID:9379036   PMID:9394797   PMID:9885222   PMID:10490593  
PMID:10606976   PMID:10701853   PMID:10891452   PMID:11121059   PMID:11133745   PMID:11214319   PMID:11313270   PMID:12115231   PMID:12145704   PMID:12200379   PMID:12244173   PMID:12355431  
PMID:12477932   PMID:12629039   PMID:12757263   PMID:12853125   PMID:12861017   PMID:14500629   PMID:14624253   PMID:14670978   PMID:14726805   PMID:15249552   PMID:15295705   PMID:15843554  
PMID:16061569   PMID:16276422   PMID:16465622   PMID:16738334   PMID:16857995   PMID:17075247   PMID:17307402   PMID:17474147   PMID:17890453   PMID:17982069   PMID:18089566   PMID:18463379  
PMID:18579371   PMID:18676680   PMID:18701881   PMID:18768869   PMID:18830263   PMID:19074885   PMID:19116388   PMID:19118899   PMID:19170196   PMID:19359154   PMID:19404965   PMID:19458910  
PMID:19573080   PMID:19625176   PMID:19692168   PMID:19773279   PMID:19859091   PMID:19898481   PMID:19913121   PMID:20122409   PMID:20237496   PMID:20453000   PMID:20489056   PMID:20568250  
PMID:20628086   PMID:20703256   PMID:20800603   PMID:20813000   PMID:20956421   PMID:21131235   PMID:21244100   PMID:21256161   PMID:21481940   PMID:21502542   PMID:21624848   PMID:21625022  
PMID:21655267   PMID:21771083   PMID:21873635   PMID:22157821   PMID:22424479   PMID:22803080   PMID:22891626   PMID:22939624   PMID:22942284   PMID:22984564   PMID:23630330   PMID:23716691  
PMID:23755767   PMID:23891352   PMID:24122031   PMID:24290284   PMID:24390342   PMID:24418478   PMID:24472623   PMID:24666246   PMID:24797073   PMID:24904117   PMID:24996264   PMID:25135298  
PMID:25327637   PMID:25745109   PMID:25831509   PMID:25849362   PMID:25869295   PMID:25976673   PMID:26124138   PMID:26234156   PMID:26354767   PMID:26596586   PMID:26689875   PMID:26996199  
PMID:27198500   PMID:27249653   PMID:27301863   PMID:27559048   PMID:27609655   PMID:27713031   PMID:27808398   PMID:27863852   PMID:28083621   PMID:28216420   PMID:28552805   PMID:28786561  
PMID:29743177   PMID:30021884   PMID:30226529   PMID:31012019   PMID:31204924   PMID:31586073   PMID:31838659   PMID:31907413   PMID:32353821   PMID:32655540   PMID:32886094   PMID:33796120  
PMID:33954879   PMID:33987955   PMID:34644584  


Genomics

Comparative Map Data
RAG1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381136,510,353 - 36,579,762 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1136,510,372 - 36,593,156 (+)EnsemblGRCh38hg38GRCh38
GRCh371136,531,903 - 36,601,312 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361136,546,139 - 36,557,851 (+)NCBINCBI36hg18NCBI36
Build 341136,546,138 - 36,557,871NCBI
Celera1136,741,994 - 36,753,743 (+)NCBI
Cytogenetic Map11p12NCBI
HuRef1136,292,349 - 36,304,098 (+)NCBIHuRef
CHM1_11136,588,249 - 36,599,998 (+)NCBICHM1_1
T2T-CHM13v2.01136,653,524 - 36,722,938 (+)NCBI
Rag1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392101,468,597 - 101,479,877 (-)NCBIGRCm39mm39
GRCm39 Ensembl2101,468,627 - 101,479,846 (-)Ensembl
GRCm382101,638,252 - 101,649,532 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2101,638,282 - 101,649,501 (-)EnsemblGRCm38mm10GRCm38
MGSCv372101,478,409 - 101,489,689 (-)NCBIGRCm37mm9NCBIm37
MGSCv362101,439,121 - 101,450,340 (-)NCBImm8
Celera2102,863,243 - 102,874,521 (-)NCBICelera
Cytogenetic Map2E2NCBI
cM Map253.88NCBI
Rag1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2387,917,061 - 87,928,158 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl387,917,004 - 87,928,291 (-)Ensembl
Rnor_6.0391,206,394 - 91,217,491 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl391,206,394 - 91,217,491 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0397,866,048 - 97,877,145 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4386,780,782 - 86,791,878 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1386,683,155 - 86,683,666 (-)NCBI
Celera387,023,254 - 87,034,352 (-)NCBICelera
Cytogenetic Map3q31NCBI
Rag1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554229,891,878 - 9,919,504 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554229,891,878 - 9,928,569 (-)NCBIChiLan1.0ChiLan1.0
RAG1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11136,356,483 - 36,418,891 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1136,412,420 - 36,422,904 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01136,483,697 - 36,546,242 (+)NCBIMhudiblu_PPA_v0panPan3
RAG1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11831,628,231 - 31,639,980 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1831,630,737 - 31,641,660 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1831,238,815 - 31,241,946 (-)NCBI
ROS_Cfam_1.01832,241,825 - 32,244,956 (-)NCBI
ROS_Cfam_1.0 Ensembl1832,241,825 - 32,244,956 (-)Ensembl
UMICH_Zoey_3.11831,811,828 - 31,814,959 (-)NCBI
UNSW_CanFamBas_1.01831,396,201 - 31,399,332 (-)NCBI
UU_Cfam_GSD_1.01832,033,403 - 32,036,534 (-)NCBI
Rag1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494728,691,865 - 28,695,927 (-)NCBI
SpeTri2.0NW_0049365331,817,135 - 1,827,393 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RAG1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl224,561,156 - 24,573,851 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1224,565,447 - 24,573,853 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2226,730,528 - 26,733,659 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RAG1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1128,667,996 - 28,701,002 (-)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666038125,803,873 - 125,811,767 (-)NCBIVero_WHO_p1.0
Rag1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476710,694,867 - 10,698,001 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462476710,694,867 - 10,698,041 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
GDB:197902  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371136,598,593 - 36,598,829UniSTSGRCh37
Build 361136,555,169 - 36,555,405RGDNCBI36
Celera1136,751,024 - 36,751,260RGD
Cytogenetic Map11p13UniSTS
HuRef1136,301,379 - 36,301,615UniSTS
GDB:316201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371136,596,568 - 36,598,050UniSTSGRCh37
Build 361136,553,144 - 36,554,626RGDNCBI36
Celera1136,748,999 - 36,750,481RGD
Cytogenetic Map11p13UniSTS
HuRef1136,299,354 - 36,300,836UniSTS
GDB:624547  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371136,596,904 - 36,597,476UniSTSGRCh37
Build 361136,553,480 - 36,554,052RGDNCBI36
Celera1136,749,335 - 36,749,907RGD
Cytogenetic Map11p13UniSTS
HuRef1136,299,690 - 36,300,262UniSTS
RAG1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371136,597,906 - 36,598,082UniSTSGRCh37
Build 361136,554,482 - 36,554,658RGDNCBI36
Celera1136,750,337 - 36,750,513RGD
Cytogenetic Map11p13UniSTS
HuRef1136,300,692 - 36,300,868UniSTS
GeneMap99-GB4 RH Map11135.55UniSTS
NCBI RH Map11246.1UniSTS
STS-M29474  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371136,600,825 - 36,601,097UniSTSGRCh37
Build 361136,557,401 - 36,557,673RGDNCBI36
Celera1136,753,256 - 36,753,528RGD
Cytogenetic Map11p13UniSTS
HuRef1136,303,611 - 36,303,883UniSTS
GeneMap99-GB4 RH Map11135.55UniSTS
PMC164518P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371136,595,100 - 36,595,413UniSTSGRCh37
Build 361136,551,676 - 36,551,989RGDNCBI36
Celera1136,747,531 - 36,747,844RGD
Cytogenetic Map11p13UniSTS
HuRef1136,297,886 - 36,298,199UniSTS
RAG1_1421  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371136,600,601 - 36,601,418UniSTSGRCh37
Build 361136,557,177 - 36,557,994RGDNCBI36
Celera1136,753,032 - 36,753,849RGD
HuRef1136,303,387 - 36,304,204UniSTS
SGC44589  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371136,601,036 - 36,601,288UniSTSGRCh37
Build 361136,557,612 - 36,557,864RGDNCBI36
Celera1136,753,467 - 36,753,719RGD
Cytogenetic Map11p13UniSTS
HuRef1136,303,822 - 36,304,074UniSTS
GeneMap99-GB4 RH Map11134.18UniSTS
Whitehead-RH Map11126.1UniSTS
NCBI RH Map11246.1UniSTS
SHGC-44589  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371136,601,080 - 36,601,180UniSTSGRCh37
Build 361136,557,656 - 36,557,756RGDNCBI36
Celera1136,753,511 - 36,753,611RGD
Cytogenetic Map11p13UniSTS
HuRef1136,303,866 - 36,303,966UniSTS
TNG Radiation Hybrid Map1117173.0UniSTS
SHGC-6028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371136,595,251 - 36,595,390UniSTSGRCh37
Build 361136,551,827 - 36,551,966RGDNCBI36
Celera1136,747,682 - 36,747,821RGD
Cytogenetic Map11p13UniSTS
HuRef1136,298,037 - 36,298,176UniSTS
TNG Radiation Hybrid Map1117164.0UniSTS
Stanford-G3 RH Map111760.0UniSTS
NCBI RH Map11247.8UniSTS
GeneMap99-G3 RH Map111760.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1437
Count of miRNA genes:784
Interacting mature miRNAs:929
Transcripts:ENST00000299440, ENST00000529126, ENST00000534663
Prediction methods:Miranda, Rnahybrid, Targetscan
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 3 1 6 37 1 2 6
Low 508 238 979 197 465 103 488 93 134 298 706 1068 106 1 344 87 2 1
Below cutoff 1920 2615 732 418 1225 354 3845 2086 3583 118 740 518 68 860 2683 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC061999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC139427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF014844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF138874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF138875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY011903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY130302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY235716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH794624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM759069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M29474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U49433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U62145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000299440   ⟹   ENSP00000299440
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1136,568,007 - 36,579,762 (+)Ensembl
RefSeq Acc Id: ENST00000529126
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1136,510,709 - 36,536,012 (+)Ensembl
RefSeq Acc Id: ENST00000534663   ⟹   ENSP00000434610
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1136,515,464 - 36,593,156 (+)Ensembl
RefSeq Acc Id: ENST00000697713   ⟹   ENSP00000513411
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1136,510,372 - 36,579,762 (+)Ensembl
RefSeq Acc Id: ENST00000697714   ⟹   ENSP00000513412
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1136,510,372 - 36,579,762 (+)Ensembl
RefSeq Acc Id: ENST00000697715   ⟹   ENSP00000513413
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1136,510,403 - 36,579,762 (+)Ensembl
RefSeq Acc Id: NM_000448   ⟹   NP_000439
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381136,568,007 - 36,579,762 (+)NCBI
GRCh371136,532,053 - 36,601,312 (+)NCBI
Build 361136,546,139 - 36,557,851 (+)NCBI Archive
HuRef1136,292,349 - 36,304,098 (+)ENTREZGENE
CHM1_11136,588,249 - 36,599,998 (+)NCBI
T2T-CHM13v2.01136,711,183 - 36,722,938 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377277   ⟹   NP_001364206
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381136,510,353 - 36,579,762 (+)NCBI
T2T-CHM13v2.01136,653,524 - 36,722,938 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377278   ⟹   NP_001364207
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381136,510,353 - 36,579,762 (+)NCBI
T2T-CHM13v2.01136,653,524 - 36,722,938 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377279   ⟹   NP_001364208
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381136,510,353 - 36,579,762 (+)NCBI
T2T-CHM13v2.01136,653,524 - 36,722,938 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377280   ⟹   NP_001364209
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381136,510,353 - 36,579,762 (+)NCBI
T2T-CHM13v2.01136,653,524 - 36,722,938 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047427384   ⟹   XP_047283340
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381136,560,830 - 36,579,762 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_000439   ⟸   NM_000448
- UniProtKB: Q8NER2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001364206   ⟸   NM_001377277
- UniProtKB: Q8NER2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001364207   ⟸   NM_001377278
- UniProtKB: Q8NER2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001364208   ⟸   NM_001377279
- UniProtKB: Q8NER2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001364209   ⟸   NM_001377280
- UniProtKB: Q8NER2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000434610   ⟸   ENST00000534663
RefSeq Acc Id: ENSP00000299440   ⟸   ENST00000299440
RefSeq Acc Id: XP_047283340   ⟸   XM_047427384
- Peptide Label: isoform X1
- UniProtKB: Q8NER2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000513412   ⟸   ENST00000697714
RefSeq Acc Id: ENSP00000513413   ⟸   ENST00000697715
RefSeq Acc Id: ENSP00000513411   ⟸   ENST00000697713
Protein Domains
NBD   RAG1-type   RING-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P15918-F1-model_v2 AlphaFold P15918 1-1043 view protein structure

Promoters
RGD ID:7220085
Promoter ID:EPDNEW_H15787
Type:initiation region
Name:RAG1_1
Description:recombination activating 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15789  EPDNEW_H15790  EPDNEW_H15791  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381136,510,009 - 36,510,069EPDNEW
RGD ID:7220087
Promoter ID:EPDNEW_H15789
Type:initiation region
Name:RAG1_3
Description:recombination activating 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15787  EPDNEW_H15790  EPDNEW_H15791  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381136,510,361 - 36,510,421EPDNEW
RGD ID:7220089
Promoter ID:EPDNEW_H15790
Type:single initiation site
Name:RAG1_4
Description:recombination activating 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15787  EPDNEW_H15789  EPDNEW_H15791  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381136,543,293 - 36,543,353EPDNEW
RGD ID:6853656
Promoter ID:EP64001
Type:single initiation site
Name:HS_RAG1
Description:V(D)J recombination activating protein 1, RAG1 or RAG-1 gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:lymphoid cells
Experiment Methods:Nuclease protection; Primer extension with homologous sequence ladder
Position:
Human AssemblyChrPosition (strand)Source
Build 361136,546,138 - 36,546,198EPD
RGD ID:7220093
Promoter ID:EPDNEW_H15791
Type:initiation region
Name:RAG1_2
Description:recombination activating 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15787  EPDNEW_H15789  EPDNEW_H15790  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381136,568,013 - 36,568,073EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000448.3(RAG1):c.2799A>G (p.Gly933=) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000542779]|Histiocytic medullary reticulosis [RCV001106548]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV001106547] Chr11:36576103 [GRCh38]
Chr11:36597653 [GRCh37]
Chr11:11p12
likely benign|uncertain significance
NM_000448.3(RAG1):c.1178G>T (p.Gly393Val) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001050135]|not provided [RCV000519147]|not specified [RCV001731748] Chr11:36574482 [GRCh38]
Chr11:36596032 [GRCh37]
Chr11:11p12
likely pathogenic|uncertain significance
NM_000448.3(RAG1):c.906C>A (p.Asp302Glu) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001084268]|Histiocytic medullary reticulosis [RCV000303729]|Severe combined immunodeficiency disease [RCV000030394]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000358641]|not provided [RCV000224203]|not specified [RCV000127710] Chr11:36574210 [GRCh38]
Chr11:36595760 [GRCh37]
Chr11:11p12
benign|likely benign
NM_000448.3(RAG1):c.2500G>T (p.Ala834Ser) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000529956] Chr11:36575804 [GRCh38]
Chr11:36597354 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000022745]|Combined immunodeficiency with skin granulomas [RCV000696949]|not provided [RCV000519696] Chr11:36574870 [GRCh38]
Chr11:36596420 [GRCh37]
Chr11:11p12
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000448.3(RAG1):c.1621del (p.Leu541fs) deletion Combined immunodeficiency with skin granulomas [RCV000022746] Chr11:36574925 [GRCh38]
Chr11:36596475 [GRCh37]
Chr11:11p12
pathogenic
NM_000448.3(RAG1):c.189A>G (p.Pro63=) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000556328]|Histiocytic medullary reticulosis [RCV000378732]|Severe combined immunodeficiency disease [RCV000030390]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000265458]|not provided [RCV001642245] Chr11:36573493 [GRCh38]
Chr11:36595043 [GRCh37]
Chr11:11p12
benign|likely benign
NM_000448.3(RAG1):c.2603C>T (p.Ala868Val) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000803712]|Severe combined immunodeficiency disease [RCV000030391] Chr11:36575907 [GRCh38]
Chr11:36597457 [GRCh37]
Chr11:11p12
likely pathogenic|uncertain significance
NM_000448.3(RAG1):c.2904C>A (p.Asn968Lys) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001205368]|Histiocytic medullary reticulosis [RCV000030392] Chr11:36576208 [GRCh38]
Chr11:36597758 [GRCh37]
Chr11:11p12
likely pathogenic|uncertain significance
NM_000448.3(RAG1):c.322C>T (p.Arg108Ter) single nucleotide variant Combined immunodeficiency due to partial RAG1 deficiency [RCV001336880]|Combined immunodeficiency with skin granulomas [RCV000820376]|RAG1-Related Disorders [RCV000778322]|Severe combined immunodeficiency disease [RCV000030393]|not provided [RCV000397265] Chr11:36573626 [GRCh38]
Chr11:36595176 [GRCh37]
Chr11:11p12
pathogenic|likely pathogenic
NM_000448.3(RAG1):c.467C>T (p.Ala156Val) single nucleotide variant RECOMBINATION ACTIVATING GENE 1 POLYMORPHISM [RCV000014024] Chr11:36573771 [GRCh38]
Chr11:36595321 [GRCh37]
Chr11:11p12
benign
NM_000448.3(RAG1):c.2164G>A (p.Glu722Lys) single nucleotide variant Severe combined immunodeficiency, B cell-negative [RCV000014021] Chr11:36575468 [GRCh38]
Chr11:36597018 [GRCh37]
Chr11:11p12
pathogenic
NM_000448.3(RAG1):c.2320G>T (p.Glu774Ter) single nucleotide variant Severe combined immunodeficiency, B cell-negative [RCV000014022] Chr11:36575624 [GRCh38]
Chr11:36597174 [GRCh37]
Chr11:11p12
pathogenic
NM_000448.3(RAG1):c.2814T>G (p.Tyr938Ter) single nucleotide variant Severe combined immunodeficiency, B cell-negative [RCV000014023] Chr11:36576118 [GRCh38]
Chr11:36597668 [GRCh37]
Chr11:11p12
pathogenic
NM_000448.3(RAG1):c.1682G>A (p.Arg561His) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001332464]|Combined immunodeficiency with skin granulomas [RCV001384043]|Histiocytic medullary reticulosis [RCV000014025]|not provided [RCV001781262] Chr11:36574986 [GRCh38]
Chr11:36596536 [GRCh37]
Chr11:11p12
pathogenic|likely pathogenic
NM_000448.3(RAG1):c.1186C>T (p.Arg396Cys) single nucleotide variant Histiocytic medullary reticulosis [RCV000014026]|not provided [RCV000059556] Chr11:36574490 [GRCh38]
Chr11:36596040 [GRCh37]
Chr11:11p12
pathogenic|not provided
NM_000448.3(RAG1):c.2735A>G (p.Tyr912Cys) single nucleotide variant Histiocytic medullary reticulosis [RCV000014027] Chr11:36576039 [GRCh38]
Chr11:36597589 [GRCh37]
Chr11:11p12
pathogenic
NM_000448.3(RAG1):c.1187G>A (p.Arg396His) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000688686]|Histiocytic medullary reticulosis [RCV000014028] Chr11:36574491 [GRCh38]
Chr11:36596041 [GRCh37]
Chr11:11p12
pathogenic
NM_000448.3(RAG1):c.1286A>G (p.Asp429Gly) single nucleotide variant Histiocytic medullary reticulosis [RCV000014029] Chr11:36574590 [GRCh38]
Chr11:36596140 [GRCh37]
Chr11:11p12
pathogenic
NM_000448.3(RAG1):c.1681C>T (p.Arg561Cys) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001386663]|Histiocytic medullary reticulosis [RCV000014030]|Severe combined immunodeficiency, B cell-negative [RCV000014031]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000537788]|not provided [RCV001091951] Chr11:36574985 [GRCh38]
Chr11:36596535 [GRCh37]
Chr11:11p12
pathogenic
NM_000448.3(RAG1):c.2210G>A (p.Arg737His) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001389160]|Histiocytic medullary reticulosis [RCV000014032]|Inherited Immunodeficiency Diseases [RCV001027614]|not provided [RCV001091955] Chr11:36575514 [GRCh38]
Chr11:36597064 [GRCh37]
Chr11:11p12
pathogenic|likely pathogenic
RAG1, 13-BP DEL, NT1723 deletion Histiocytic medullary reticulosis [RCV000014033] Chr11:11p13 pathogenic
RAG1, 2-BP DEL, 368AA deletion Combined immunodeficiency due to partial RAG1 deficiency [RCV000014035]|Histiocytic medullary reticulosis [RCV000014034] Chr11:11p13 pathogenic
RAG1, 1-BP DEL, 887A deletion Histiocytic medullary reticulosis [RCV000014036] Chr11:11p13 pathogenic
RAG1, 1-BP DEL, 631T deletion Combined immunodeficiency due to partial RAG1 deficiency [RCV000014039]|Histiocytic medullary reticulosis [RCV000014037]|Severe combined immunodeficiency, B cell-negative [RCV000014038] Chr11:11p13 pathogenic
NM_000448.3(RAG1):c.2521C>T (p.Arg841Trp) single nucleotide variant Combined immunodeficiency due to partial RAG1 deficiency [RCV000014040]|Combined immunodeficiency with skin granulomas [RCV001205083] Chr11:36575825 [GRCh38]
Chr11:36597375 [GRCh37]
Chr11:11p12
pathogenic|likely pathogenic
NM_000448.3(RAG1):c.2942A>C (p.Gln981Pro) single nucleotide variant Combined immunodeficiency due to partial RAG1 deficiency [RCV000014041] Chr11:36576246 [GRCh38]
Chr11:36597796 [GRCh37]
Chr11:11p12
pathogenic
NM_000448.3(RAG1):c.940C>T (p.Arg314Trp) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000014042] Chr11:36574244 [GRCh38]
Chr11:36595794 [GRCh37]
Chr11:11p12
pathogenic
NM_000448.3(RAG1):c.2333G>A (p.Arg778Gln) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000014044]|not provided [RCV000479659] Chr11:36575637 [GRCh38]
Chr11:36597187 [GRCh37]
Chr11:11p12
pathogenic
NM_000448.3(RAG1):c.2923C>T (p.Arg975Trp) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000014045]|Combined immunodeficiency with skin granulomas [RCV000820053] Chr11:36576227 [GRCh38]
Chr11:36597777 [GRCh37]
Chr11:11p12
pathogenic|likely pathogenic|uncertain significance
NM_000448.3(RAG1):c.983G>A (p.Cys328Tyr) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000820844]|Histiocytic medullary reticulosis [RCV000014046] Chr11:36574287 [GRCh38]
Chr11:36595837 [GRCh37]
Chr11:11p12
pathogenic
NM_000448.3(RAG1):c.2326C>T (p.Arg776Trp) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000801211]|Severe combined immunodeficiency, B cell-negative [RCV000014047] Chr11:36575630 [GRCh38]
Chr11:36597180 [GRCh37]
Chr11:11p12
pathogenic|likely pathogenic
NM_000448.3(RAG1):c.999T>A (p.Tyr333Ter) single nucleotide variant not provided [RCV000521773] Chr11:36574303 [GRCh38]
Chr11:36595853 [GRCh37]
Chr11:11p12
pathogenic
GRCh38/hg38 11p13-12(chr11:35135480-37649168)x1 copy number loss See cases [RCV000051067] Chr11:35135480..37649168 [GRCh38]
Chr11:35157027..37670718 [GRCh37]
Chr11:35113603..37627294 [NCBI36]
Chr11:11p13-12
uncertain significance
GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1 copy number loss See cases [RCV000052679] Chr11:35663578..46959820 [GRCh38]
Chr11:35685126..46981371 [GRCh37]
Chr11:35641702..46937947 [NCBI36]
Chr11:11p13-11.2
pathogenic
GRCh38/hg38 11p12-11.2(chr11:36508280-48643003)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|See cases [RCV000052680] Chr11:36508280..48643003 [GRCh38]
Chr11:36529830..48664555 [GRCh37]
Chr11:36486406..48621131 [NCBI36]
Chr11:11p12-11.2
pathogenic
GRCh38/hg38 11p13-12(chr11:35103218-38791492)x1 copy number loss See cases [RCV000053255] Chr11:35103218..38791492 [GRCh38]
Chr11:35124765..38813042 [GRCh37]
Chr11:35081341..38769618 [NCBI36]
Chr11:11p13-12
uncertain significance
NM_000448.2(RAG1):c.267G>A (p.Lys89=) single nucleotide variant Malignant melanoma [RCV000069345] Chr11:36573571 [GRCh38]
Chr11:36595121 [GRCh37]
Chr11:36551697 [NCBI36]
Chr11:11p12
not provided
GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1 copy number loss See cases [RCV000052648] Chr11:22550115..38199159 [GRCh38]
Chr11:22571661..38220709 [GRCh37]
Chr11:22528237..38177285 [NCBI36]
Chr11:11p14.3-12
pathogenic
GRCh38/hg38 11p13-12(chr11:34161694-36799127)x3 copy number gain See cases [RCV000053617] Chr11:34161694..36799127 [GRCh38]
Chr11:34183241..36820677 [GRCh37]
Chr11:34139817..36777253 [NCBI36]
Chr11:11p13-12
pathogenic
NM_000448.3(RAG1):c.1297G>A (p.Val433Met) single nucleotide variant not provided [RCV000059560] Chr11:36574601 [GRCh38]
Chr11:36596151 [GRCh37]
Chr11:11p12
not provided
NM_000448.3(RAG1):c.1187G>T (p.Arg396Leu) single nucleotide variant not provided [RCV000059557] Chr11:36574491 [GRCh38]
Chr11:36596041 [GRCh37]
Chr11:11p12
not provided
NM_000448.3(RAG1):c.1201T>C (p.Ser401Pro) single nucleotide variant not provided [RCV000059558] Chr11:36574505 [GRCh38]
Chr11:36596055 [GRCh37]
Chr11:11p12
not provided
NM_000448.3(RAG1):c.1229G>A (p.Arg410Gln) single nucleotide variant not provided [RCV000059559] Chr11:36574533 [GRCh38]
Chr11:36596083 [GRCh37]
Chr11:11p12
not provided
NM_000448.3(RAG1):c.1303A>G (p.Met435Val) single nucleotide variant Combined immunodeficiency due to partial RAG1 deficiency [RCV000762842]|Combined immunodeficiency with skin granulomas [RCV001069679]|Severe combined immunodeficiency disease [RCV001804802]|not provided [RCV000059561] Chr11:36574607 [GRCh38]
Chr11:36596157 [GRCh37]
Chr11:11p12
pathogenic|likely pathogenic|not provided
NM_000448.3(RAG1):c.1421G>A (p.Arg474His) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000791763]|Severe combined immunodeficiency disease [RCV001731478]|not provided [RCV000059565] Chr11:36574725 [GRCh38]
Chr11:36596275 [GRCh37]
Chr11:11p12
pathogenic|not provided
NM_000448.3(RAG1):c.1331C>T (p.Ala444Val) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001390074]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000559478]|not provided [RCV000059562] Chr11:36574635 [GRCh38]
Chr11:36596185 [GRCh37]
Chr11:11p12
pathogenic|not provided
NM_000448.3(RAG1):c.1361T>A (p.Leu454Gln) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000819860]|not provided [RCV000059563] Chr11:36574665 [GRCh38]
Chr11:36596215 [GRCh37]
Chr11:11p12
uncertain significance|not provided
NM_000448.3(RAG1):c.1420C>T (p.Arg474Cys) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001235005]|not provided [RCV000059564] Chr11:36574724 [GRCh38]
Chr11:36596274 [GRCh37]
Chr11:11p12
pathogenic|not provided
NM_000448.3(RAG1):c.1677G>T (p.Arg559Ser) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001854249]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV001594380]|not provided [RCV000059566] Chr11:36574981 [GRCh38]
Chr11:36596531 [GRCh37]
Chr11:11p12
pathogenic|not provided
NM_000448.3(RAG1):c.1870C>T (p.Arg624Cys) single nucleotide variant not provided [RCV000059567] Chr11:36575174 [GRCh38]
Chr11:36596724 [GRCh37]
Chr11:11p12
not provided
NM_000448.3(RAG1):c.1871G>A (p.Arg624His) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001381393]|not provided [RCV000059568] Chr11:36575175 [GRCh38]
Chr11:36596725 [GRCh37]
Chr11:11p12
pathogenic|not provided
NM_000448.3(RAG1):c.2006A>G (p.Glu669Gly) single nucleotide variant not provided [RCV000059569] Chr11:36575310 [GRCh38]
Chr11:36596860 [GRCh37]
Chr11:11p12
not provided
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000548870]|Histiocytic medullary reticulosis [RCV001729376]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV001293030]|not provided [RCV000059570] Chr11:36575399 [GRCh38]
Chr11:36596949 [GRCh37]
Chr11:11p12
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000448.3(RAG1):c.2258A>T (p.His753Leu) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000687602]|not provided [RCV000059571] Chr11:36575562 [GRCh38]
Chr11:36597112 [GRCh37]
Chr11:11p12
uncertain significance|not provided
NM_000448.3(RAG1):c.2564A>T (p.Asn855Ile) single nucleotide variant not provided [RCV000059572] Chr11:36575868 [GRCh38]
Chr11:36597418 [GRCh37]
Chr11:11p12
not provided
NM_000448.3(RAG1):c.2654T>G (p.Leu885Arg) single nucleotide variant not provided [RCV000059573] Chr11:36575958 [GRCh38]
Chr11:36597508 [GRCh37]
Chr11:11p12
not provided
NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001384587]|Severe combined immunodeficiency disease [RCV000780682]|not provided [RCV000059574] Chr11:36576228 [GRCh38]
Chr11:36597778 [GRCh37]
Chr11:11p12
pathogenic|not provided
NM_000448.3(RAG1):c.730A>G (p.Arg244Gly) single nucleotide variant not provided [RCV000059575] Chr11:36574034 [GRCh38]
Chr11:36595584 [GRCh37]
Chr11:11p12
not provided
NM_000448.2(RAG1):c.629C>T (p.Ser210Phe) single nucleotide variant Malignant melanoma [RCV000062203] Chr11:36573933 [GRCh38]
Chr11:36595483 [GRCh37]
Chr11:36552059 [NCBI36]
Chr11:11p12
not provided
NC_000011.10:g.36562045C>A single nucleotide variant Lung cancer [RCV000109999] Chr11:36562045 [GRCh38]
Chr11:36583595 [GRCh37]
Chr11:11p12
uncertain significance
GRCh38/hg38 11p13-12(chr11:36007377-40318124)x1 copy number loss See cases [RCV000138674] Chr11:36007377..40318124 [GRCh38]
Chr11:36028927..40339674 [GRCh37]
Chr11:35985503..40296250 [NCBI36]
Chr11:11p13-12
pathogenic|likely pathogenic
GRCh38/hg38 11p13-12(chr11:34168931-36820798)x3 copy number gain See cases [RCV000142987] Chr11:34168931..36820798 [GRCh38]
Chr11:34190478..36842348 [GRCh37]
Chr11:34147054..36798924 [NCBI36]
Chr11:11p13-12
uncertain significance
NM_000448.3(RAG1):c.424C>T (p.Arg142Ter) single nucleotide variant Combined immunodeficiency due to partial RAG1 deficiency [RCV000768299]|Combined immunodeficiency with skin granulomas [RCV000988528]|Combined immunodeficiency with skin granulomas [RCV001869060]|Histiocytic medullary reticulosis [RCV002250692] Chr11:36573728 [GRCh38]
Chr11:36595278 [GRCh37]
Chr11:11p12
pathogenic|likely pathogenic
NM_000448.3(RAG1):c.256_257del (p.Lys86fs) deletion Combined immunodeficiency with skin granulomas [RCV000282657]|RAG1-Related Disorders [RCV000779060]|Severe combined immunodeficiency disease [RCV002222473]|not provided [RCV000725574] Chr11:36573560..36573561 [GRCh38]
Chr11:36595110..36595111 [GRCh37]
Chr11:11p12
pathogenic
NM_000448.3(RAG1):c.303G>A (p.Ala101=) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000557624]|Histiocytic medullary reticulosis [RCV000320598]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000374530]|not provided [RCV001812109]|not specified [RCV000127708] Chr11:36573607 [GRCh38]
Chr11:36595157 [GRCh37]
Chr11:11p12
benign|likely benign
NM_000448.3(RAG1):c.746= (p.His249=) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000536425]|not specified [RCV000127709] Chr11:36574050 [GRCh38]
Chr11:36595600 [GRCh37]
Chr11:11p12
benign
NM_000448.3(RAG1):c.2638G>A (p.Glu880Lys) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000554305]|Histiocytic medullary reticulosis [RCV001105407]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV001105408]|not specified [RCV000127711] Chr11:36575942 [GRCh38]
Chr11:36597492 [GRCh37]
Chr11:11p12
benign|likely benign
NM_000448.3(RAG1):c.1438A>G (p.Ser480Gly) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001852063]|not provided [RCV000171192] Chr11:36574742 [GRCh38]
Chr11:36596292 [GRCh37]
Chr11:11p12
likely pathogenic|uncertain significance
NM_000448.3(RAG1):c.555del (p.Lys186fs) deletion not provided [RCV000171461] Chr11:36573858 [GRCh38]
Chr11:36595408 [GRCh37]
Chr11:11p12
likely pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
GRCh38/hg38 11p12(chr11:36487236-40907935)x1 copy number loss See cases [RCV000141374] Chr11:36487236..40907935 [GRCh38]
Chr11:36508786..40929485 [GRCh37]
Chr11:36465362..40886061 [NCBI36]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.830A>G (p.Lys277Arg) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000546508] Chr11:36574134 [GRCh38]
Chr11:36595684 [GRCh37]
Chr11:11p12
uncertain significance
GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1 copy number loss See cases [RCV000240268] Chr11:30615127..40606139 [GRCh37]
Chr11:11p14.1-12
pathogenic
NM_000448.3(RAG1):c.2459A>G (p.Lys820Arg) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001512872]|Combined immunodeficiency with skin granulomas [RCV001795396]|Histiocytic medullary reticulosis [RCV000385043]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000290555]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001814976]|not provided [RCV001636747]|not specified [RCV000245314] Chr11:36575763 [GRCh38]
Chr11:36597313 [GRCh37]
Chr11:11p12
benign
NM_000448.3(RAG1):c.2880A>G (p.Ala960=) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001517506]|Histiocytic medullary reticulosis [RCV000370544]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000297247]|not provided [RCV001706295]|not specified [RCV000250266] Chr11:36576184 [GRCh38]
Chr11:36597734 [GRCh37]
Chr11:11p12
benign|likely benign
NM_000448.3(RAG1):c.2571C>T (p.Ala857=) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000544855]|Histiocytic medullary reticulosis [RCV001105406]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV001105405]|not provided [RCV001703201]|not specified [RCV000602577] Chr11:36575875 [GRCh38]
Chr11:36597425 [GRCh37]
Chr11:11p12
benign|likely benign|uncertain significance
NM_000448.3(RAG1):c.775del (p.Ser259fs) deletion Combined immunodeficiency with skin granulomas [RCV001854775]|Histiocytic medullary reticulosis [RCV001174963]|not provided [RCV000224814] Chr11:36574079 [GRCh38]
Chr11:36595629 [GRCh37]
Chr11:11p12
pathogenic
NM_000448.3(RAG1):c.2005G>A (p.Glu669Lys) single nucleotide variant not provided [RCV000223999] Chr11:36575309 [GRCh38]
Chr11:36596859 [GRCh37]
Chr11:11p12
likely pathogenic
NM_000448.3(RAG1):c.1346G>A (p.Arg449Lys) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000541489]|Histiocytic medullary reticulosis [RCV001106443]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV001106444]|not provided [RCV001711652]|not specified [RCV000253706] Chr11:36574650 [GRCh38]
Chr11:36596200 [GRCh37]
Chr11:11p12
benign|likely benign|uncertain significance
NM_000448.3(RAG1):c.2626G>A (p.Glu876Lys) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000824429]|Histiocytic medullary reticulosis [RCV000345492]|Primary ciliary dyskinesia [RCV001255281]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000391789] Chr11:36575930 [GRCh38]
Chr11:36597480 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.*1083C>T single nucleotide variant Histiocytic medullary reticulosis [RCV000378291]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000323545] Chr11:36577519 [GRCh38]
Chr11:36599069 [GRCh37]
Chr11:11p12
benign|likely benign
NM_000448.3(RAG1):c.2659G>A (p.Asp887Asn) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000532748]|Histiocytic medullary reticulosis [RCV000287102]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000341833] Chr11:36575963 [GRCh38]
Chr11:36597513 [GRCh37]
Chr11:11p12
benign|likely benign
NM_000448.3(RAG1):c.739C>T (p.Arg247Cys) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001043774]|Histiocytic medullary reticulosis [RCV000406884]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000307123] Chr11:36574043 [GRCh38]
Chr11:36595593 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.*2530G>T single nucleotide variant Histiocytic medullary reticulosis [RCV000327734]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000384657] Chr11:36578966 [GRCh38]
Chr11:36600516 [GRCh37]
Chr11:11p12
benign|likely benign
NM_000448.3(RAG1):c.*739C>T single nucleotide variant Histiocytic medullary reticulosis [RCV000351405]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000391481] Chr11:36577175 [GRCh38]
Chr11:36598725 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.1A>G (p.Met1Val) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001065533]|Histiocytic medullary reticulosis [RCV000272199]|Severe combined immunodeficiency disease [RCV001731582]|not provided [RCV001753766] Chr11:36573305 [GRCh38]
Chr11:36594855 [GRCh37]
Chr11:11p12
conflicting interpretations of pathogenicity|uncertain significance
NM_000448.3(RAG1):c.-114G>A single nucleotide variant Histiocytic medullary reticulosis [RCV000376745]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000281963] Chr11:36568023 [GRCh38]
Chr11:36589573 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.*370G>T single nucleotide variant Histiocytic medullary reticulosis [RCV000378801]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000284279] Chr11:36576806 [GRCh38]
Chr11:36598356 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.2751G>A (p.Gln917=) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000871433]|Histiocytic medullary reticulosis [RCV000302327]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000408443]|not provided [RCV001660594] Chr11:36576055 [GRCh38]
Chr11:36597605 [GRCh37]
Chr11:11p12
benign|likely benign|uncertain significance
NM_000448.3(RAG1):c.152A>T (p.Asp51Val) single nucleotide variant Histiocytic medullary reticulosis [RCV000269112]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000324217] Chr11:36573456 [GRCh38]
Chr11:36595006 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.*2599A>C single nucleotide variant Histiocytic medullary reticulosis [RCV000287453]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000345294] Chr11:36579035 [GRCh38]
Chr11:36600585 [GRCh37]
Chr11:11p12
benign|uncertain significance
NM_000448.3(RAG1):c.*2308G>A single nucleotide variant Histiocytic medullary reticulosis [RCV000333530]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000276014] Chr11:36578744 [GRCh38]
Chr11:36600294 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.2825C>T (p.Thr942Ile) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001859806]|Histiocytic medullary reticulosis [RCV000404870]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000357136] Chr11:36576129 [GRCh38]
Chr11:36597679 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.577G>A (p.Glu193Lys) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000645692]|Histiocytic medullary reticulosis [RCV000389615]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000295079]|not specified [RCV000780681] Chr11:36573881 [GRCh38]
Chr11:36595431 [GRCh37]
Chr11:11p12
benign|uncertain significance
NM_000448.3(RAG1):c.*3122del deletion Histiocytic medullary reticulosis [RCV000390535]|Severe combined immunodeficiency disease [RCV001731471] Chr11:36579547 [GRCh38]
Chr11:36601097 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.1367C>A (p.Ala456Asp) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001445356]|Histiocytic medullary reticulosis [RCV000260296]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000354119] Chr11:36574671 [GRCh38]
Chr11:36596221 [GRCh37]
Chr11:11p12
likely benign|uncertain significance
NM_000448.3(RAG1):c.*3156A>G single nucleotide variant Histiocytic medullary reticulosis [RCV000370986]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000273992] Chr11:36579592 [GRCh38]
Chr11:36601142 [GRCh37]
Chr11:11p12
likely benign|uncertain significance
NM_000448.3(RAG1):c.653G>A (p.Arg218His) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001320109]|Histiocytic medullary reticulosis [RCV000346886]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000291741] Chr11:36573957 [GRCh38]
Chr11:36595507 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.*1562A>G single nucleotide variant Histiocytic medullary reticulosis [RCV000293216]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000350388] Chr11:36577998 [GRCh38]
Chr11:36599548 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.2426A>G (p.Lys809Arg) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001049027]|Histiocytic medullary reticulosis [RCV000330468]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000294306] Chr11:36575730 [GRCh38]
Chr11:36597280 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.*589G>A single nucleotide variant Histiocytic medullary reticulosis [RCV000315226]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000391297] Chr11:36577025 [GRCh38]
Chr11:36598575 [GRCh37]
Chr11:11p12
benign|likely benign
NM_000448.3(RAG1):c.799G>A (p.Ala267Thr) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001203120]|Histiocytic medullary reticulosis [RCV000404463]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000361863] Chr11:36574103 [GRCh38]
Chr11:36595653 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.*2211C>T single nucleotide variant Histiocytic medullary reticulosis [RCV000303552]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000264538] Chr11:36578647 [GRCh38]
Chr11:36600197 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.*1130A>G single nucleotide variant Histiocytic medullary reticulosis [RCV000280355]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000374848] Chr11:36577566 [GRCh38]
Chr11:36599116 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.*398G>A single nucleotide variant Histiocytic medullary reticulosis [RCV000280775]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000336196] Chr11:36576834 [GRCh38]
Chr11:36598384 [GRCh37]
Chr11:11p12
benign|likely benign
NM_000448.3(RAG1):c.*2246T>C single nucleotide variant Histiocytic medullary reticulosis [RCV000355976]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000263496] Chr11:36578682 [GRCh38]
Chr11:36600232 [GRCh37]
Chr11:11p12
benign|likely benign
NM_000448.3(RAG1):c.*3058A>G single nucleotide variant Histiocytic medullary reticulosis [RCV000356780]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000299499] Chr11:36579494 [GRCh38]
Chr11:36601044 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.*834dup duplication Histiocytic medullary reticulosis [RCV000271801]|Severe combined immunodeficiency disease [RCV001731584] Chr11:36577269..36577270 [GRCh38]
Chr11:36598819..36598820 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.*2936TAAG[1] microsatellite Histiocytic medullary reticulosis [RCV000339415]|Severe combined immunodeficiency disease [RCV001731587] Chr11:36579372..36579375 [GRCh38]
Chr11:36600922..36600925 [GRCh37]
Chr11:11p12
likely benign
NM_000448.3(RAG1):c.-15+12A>G single nucleotide variant Histiocytic medullary reticulosis [RCV000297187]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000352232] Chr11:36568134 [GRCh38]
Chr11:36589684 [GRCh37]
Chr11:11p12
likely benign|uncertain significance
NM_000448.3(RAG1):c.*1101G>A single nucleotide variant Histiocytic medullary reticulosis [RCV000265029]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000320187] Chr11:36577537 [GRCh38]
Chr11:36599087 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.2968G>A (p.Val990Ile) single nucleotide variant Histiocytic medullary reticulosis [RCV000276078]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000331243] Chr11:36576272 [GRCh38]
Chr11:36597822 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.*200C>T single nucleotide variant Histiocytic medullary reticulosis [RCV000367216]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000272712] Chr11:36576636 [GRCh38]
Chr11:36598186 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.*238G>A single nucleotide variant Histiocytic medullary reticulosis [RCV000381869]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000327820] Chr11:36576674 [GRCh38]
Chr11:36598224 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.592A>C (p.Arg198=) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV002056200]|Histiocytic medullary reticulosis [RCV000406889]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000350023] Chr11:36573896 [GRCh38]
Chr11:36595446 [GRCh37]
Chr11:11p12
likely benign|uncertain significance
NM_000448.3(RAG1):c.*1366A>G single nucleotide variant Histiocytic medullary reticulosis [RCV000351671]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000389858] Chr11:36577802 [GRCh38]
Chr11:36599352 [GRCh37]
Chr11:11p12
benign|uncertain significance
NM_000448.3(RAG1):c.37T>G (p.Ser13Ala) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001059650]|Histiocytic medullary reticulosis [RCV000308604]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000363341] Chr11:36573341 [GRCh38]
Chr11:36594891 [GRCh37]
Chr11:11p12
likely benign|uncertain significance
NM_000448.3(RAG1):c.1077A>G (p.Pro359=) single nucleotide variant Histiocytic medullary reticulosis [RCV000317955]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000263887] Chr11:36574381 [GRCh38]
Chr11:36595931 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.*3184G>A single nucleotide variant Histiocytic medullary reticulosis [RCV000365249]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000331349] Chr11:36579620 [GRCh38]
Chr11:36601170 [GRCh37]
Chr11:11p12
benign
NM_000448.3(RAG1):c.*2289T>G single nucleotide variant Histiocytic medullary reticulosis [RCV000372949]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000316375] Chr11:36578725 [GRCh38]
Chr11:36600275 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.1232T>C (p.Leu411Pro) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000526312] Chr11:36574536 [GRCh38]
Chr11:36596086 [GRCh37]
Chr11:11p12
likely pathogenic|uncertain significance
NM_000448.3(RAG1):c.*1705A>G single nucleotide variant Histiocytic medullary reticulosis [RCV000304685]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000361733] Chr11:36578141 [GRCh38]
Chr11:36599691 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.*2442G>A single nucleotide variant Histiocytic medullary reticulosis [RCV000293773]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000385663] Chr11:36578878 [GRCh38]
Chr11:36600428 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.746dup (p.His249fs) duplication not provided [RCV000389898] Chr11:36574049..36574050 [GRCh38]
Chr11:36595600 [GRCh37]
Chr11:11p12
pathogenic
NM_000448.3(RAG1):c.-65A>G single nucleotide variant Histiocytic medullary reticulosis [RCV000336969]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000391350] Chr11:36568072 [GRCh38]
Chr11:36589622 [GRCh37]
Chr11:11p12
benign|likely benign
NM_000448.3(RAG1):c.*856C>A single nucleotide variant Histiocytic medullary reticulosis [RCV000268455]|Severe combined immunodeficiency disease [RCV001731585] Chr11:36577292 [GRCh38]
Chr11:36598842 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.382C>T (p.Pro128Ser) single nucleotide variant Histiocytic medullary reticulosis [RCV000279956]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000335126] Chr11:36573686 [GRCh38]
Chr11:36595236 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.987del (p.Ser330fs) deletion Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000766114] Chr11:36574289 [GRCh38]
Chr11:36595839 [GRCh37]
Chr11:11p12
pathogenic
NM_000448.3(RAG1):c.335G>A (p.Arg112His) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000645684]|not provided [RCV000489989] Chr11:36573639 [GRCh38]
Chr11:36595189 [GRCh37]
Chr11:11p12
likely pathogenic|uncertain significance
NM_000448.3(RAG1):c.*1701T>C single nucleotide variant Histiocytic medullary reticulosis [RCV000344530]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000393587] Chr11:36578137 [GRCh38]
Chr11:36599687 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.1060C>A (p.Leu354Met) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000552443]|Histiocytic medullary reticulosis [RCV001105309]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV001105308] Chr11:36574364 [GRCh38]
Chr11:36595914 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.*344G>A single nucleotide variant Histiocytic medullary reticulosis [RCV000324246]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000287977] Chr11:36576780 [GRCh38]
Chr11:36598330 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.*1611G>A single nucleotide variant Histiocytic medullary reticulosis [RCV000310726]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000393592] Chr11:36578047 [GRCh38]
Chr11:36599597 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.2(RAG1):c.*3331A>G single nucleotide variant Histiocytic medullary reticulosis [RCV000290816]|Severe combined immunodeficiency disease [RCV001731658] Chr11:36579767 [GRCh38]
Chr11:36601317 [GRCh37]
Chr11:11p12
likely benign
NM_000448.3(RAG1):c.-10C>T single nucleotide variant Histiocytic medullary reticulosis [RCV000406270]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000312612] Chr11:36573295 [GRCh38]
Chr11:36594845 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.2110A>G (p.Ile704Val) single nucleotide variant Histiocytic medullary reticulosis [RCV000388629]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000334174] Chr11:36575414 [GRCh38]
Chr11:36596964 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.737C>T (p.Ala246Val) single nucleotide variant not specified [RCV000603536] Chr11:36574041 [GRCh38]
Chr11:36595591 [GRCh37]
Chr11:11p12
likely benign
NM_000448.3(RAG1):c.*2705dup duplication Histiocytic medullary reticulosis [RCV000286691]|Severe combined immunodeficiency disease [RCV001731586] Chr11:36579134..36579135 [GRCh38]
Chr11:36600684..36600685 [GRCh37]
Chr11:11p12
likely benign
NM_000448.3(RAG1):c.*386del deletion Histiocytic medullary reticulosis [RCV000375170]|Severe combined immunodeficiency disease [RCV001731583] Chr11:36576816 [GRCh38]
Chr11:36598366 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.*766A>G single nucleotide variant Histiocytic medullary reticulosis [RCV000311707]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV000366370] Chr11:36577202 [GRCh38]
Chr11:36598752 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.527G>T (p.Cys176Phe) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000792591]|not provided [RCV000413643] Chr11:36573831 [GRCh38]
Chr11:36595381 [GRCh37]
Chr11:11p12
likely pathogenic|uncertain significance
NM_000448.3(RAG1):c.2974A>G (p.Lys992Glu) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000542154]|not provided [RCV000414066] Chr11:36576278 [GRCh38]
Chr11:36597828 [GRCh37]
Chr11:11p12
pathogenic
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 copy number gain See cases [RCV000448603] Chr11:26574629..50508019 [GRCh37]
Chr11:11p14.2-11.12
pathogenic
NM_000448.3(RAG1):c.2147G>A (p.Arg716Gln) single nucleotide variant not provided [RCV000483831] Chr11:36575451 [GRCh38]
Chr11:36597001 [GRCh37]
Chr11:11p12
likely pathogenic
NM_000448.3(RAG1):c.1875T>G (p.Phe625Leu) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001865426]|not provided [RCV000480839] Chr11:36575179 [GRCh38]
Chr11:36596729 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.2981A>G (p.His994Arg) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000687603]|not provided [RCV000412932] Chr11:36576285 [GRCh38]
Chr11:36597835 [GRCh37]
Chr11:11p12
likely pathogenic|uncertain significance
GRCh37/hg19 11p14.1-11.2(chr11:29238811-45494063)x1 copy number loss See cases [RCV000445800] Chr11:29238811..45494063 [GRCh37]
Chr11:11p14.1-11.2
pathogenic
NM_000448.3(RAG1):c.251A>G (p.His84Arg) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000645695]|not specified [RCV000423103] Chr11:36573555 [GRCh38]
Chr11:36595105 [GRCh37]
Chr11:11p12
benign
GRCh37/hg19 11p13-12(chr11:34189942-36857171)x3 copy number gain See cases [RCV000448252] Chr11:34189942..36857171 [GRCh37]
Chr11:11p13-12
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_000448.3(RAG1):c.851C>T (p.Pro284Leu) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000556779] Chr11:36574155 [GRCh38]
Chr11:36595705 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.3016A>G (p.Met1006Val) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000645690]|Histiocytic medullary reticulosis [RCV001108724]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV001108725]|not provided [RCV001544721]|not specified [RCV001805777] Chr11:36576320 [GRCh38]
Chr11:36597870 [GRCh37]
Chr11:11p12
likely benign|uncertain significance
NM_000448.3(RAG1):c.2690G>A (p.Arg897Gln) single nucleotide variant not provided [RCV000484528] Chr11:36575994 [GRCh38]
Chr11:36597544 [GRCh37]
Chr11:11p12
likely pathogenic
NM_000448.3(RAG1):c.746A>G (p.His249Arg) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001512871]|Combined immunodeficiency with skin granulomas [RCV001796052]|Histiocytic medullary reticulosis [RCV001796051]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV001796053]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive [RCV001814983]|not provided [RCV001702659]|not specified [RCV000455724] Chr11:36574050 [GRCh38]
Chr11:36595600 [GRCh37]
Chr11:11p12
benign|likely benign
NM_000448.3(RAG1):c.2442G>T (p.Glu814Asp) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001041164]|not provided [RCV000486567] Chr11:36575746 [GRCh38]
Chr11:36597296 [GRCh37]
Chr11:11p12
likely pathogenic|uncertain significance
NM_000448.3(RAG1):c.2564A>G (p.Asn855Ser) single nucleotide variant not provided [RCV000480355] Chr11:36575868 [GRCh38]
Chr11:36597418 [GRCh37]
Chr11:11p12
likely pathogenic
GRCh37/hg19 11p13-12(chr11:35126357-38814431)x1 copy number loss See cases [RCV000510326] Chr11:35126357..38814431 [GRCh37]
Chr11:11p13-12
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12
pathogenic
GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1 copy number loss See cases [RCV000511434] Chr11:27588560..41770792 [GRCh37]
Chr11:11p14.1-12
pathogenic|uncertain significance
NM_000448.3(RAG1):c.1761T>G (p.Asp587Glu) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000645686] Chr11:36575065 [GRCh38]
Chr11:36596615 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.1742T>C (p.Met581Thr) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000645683] Chr11:36575046 [GRCh38]
Chr11:36596596 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.101G>A (p.Arg34Gln) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000645682] Chr11:36573405 [GRCh38]
Chr11:36594955 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.2527A>G (p.Lys843Glu) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000693037] Chr11:36575831 [GRCh38]
Chr11:36597381 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.2774C>T (p.Thr925Met) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000693597] Chr11:36576078 [GRCh38]
Chr11:36597628 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001041560]|Severe combined immunodeficiency disease [RCV001731796]|not provided [RCV000579006] Chr11:36575993 [GRCh38]
Chr11:36597543 [GRCh37]
Chr11:11p12
pathogenic
NM_000448.3(RAG1):c.2451A>G (p.Glu817=) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000645691]|not provided [RCV001653966] Chr11:36575755 [GRCh38]
Chr11:36597305 [GRCh37]
Chr11:11p12
benign|likely benign
NM_000448.3(RAG1):c.60C>T (p.His20=) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000645693] Chr11:36573364 [GRCh38]
Chr11:36594914 [GRCh37]
Chr11:11p12
likely benign
NM_000448.3(RAG1):c.2715C>T (p.Cys905=) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000645696] Chr11:36576019 [GRCh38]
Chr11:36597569 [GRCh37]
Chr11:11p12
likely benign
NM_000448.3(RAG1):c.725A>G (p.Gln242Arg) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000645698]|Histiocytic medullary reticulosis [RCV001108567]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV001108566]|not provided [RCV001546604] Chr11:36574029 [GRCh38]
Chr11:36595579 [GRCh37]
Chr11:11p12
benign|uncertain significance
NM_000448.3(RAG1):c.1064T>C (p.Met355Thr) single nucleotide variant Combined immunodeficiency due to partial RAG1 deficiency [RCV000763737]|Combined immunodeficiency with skin granulomas [RCV000707727]|Histiocytic medullary reticulosis [RCV001105310]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV001105311] Chr11:36574368 [GRCh38]
Chr11:36595918 [GRCh37]
Chr11:11p12
likely benign|uncertain significance
NM_000448.3(RAG1):c.2348C>G (p.Ser783Ter) single nucleotide variant Combined immunodeficiency due to partial RAG1 deficiency [RCV000768065]|Combined immunodeficiency with skin granulomas [RCV000695106] Chr11:36575652 [GRCh38]
Chr11:36597202 [GRCh37]
Chr11:11p12
pathogenic|likely pathogenic
NM_000448.3(RAG1):c.191C>T (p.Ala64Val) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000686139] Chr11:36573495 [GRCh38]
Chr11:36595045 [GRCh37]
Chr11:11p12
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_000448.3(RAG1):c.1467G>C (p.Arg489Ser) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001039344]|not provided [RCV000761770] Chr11:36574771 [GRCh38]
Chr11:36596321 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.1202C>T (p.Ser401Leu) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000703227] Chr11:36574506 [GRCh38]
Chr11:36596056 [GRCh37]
Chr11:11p12
uncertain significance
GRCh37/hg19 11p14.3-12(chr11:24469451-37524085)x1 copy number loss not provided [RCV000737457] Chr11:24469451..37524085 [GRCh37]
Chr11:11p14.3-12
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_000448.3(RAG1):c.2276G>A (p.Arg759His) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV002001787] Chr11:36575580 [GRCh38]
Chr11:36597130 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.1578G>A (p.Leu526=) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000864725] Chr11:36574882 [GRCh38]
Chr11:36596432 [GRCh37]
Chr11:11p12
benign
NM_000448.3(RAG1):c.3025C>T (p.His1009Tyr) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001061467] Chr11:36576329 [GRCh38]
Chr11:36597879 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.1524T>C (p.Asn508=) single nucleotide variant not provided [RCV000945249] Chr11:36574828 [GRCh38]
Chr11:36596378 [GRCh37]
Chr11:11p12
likely benign
NM_000448.3(RAG1):c.1573C>T (p.Pro525Ser) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000967725] Chr11:36574877 [GRCh38]
Chr11:36596427 [GRCh37]
Chr11:11p12
benign
NM_000448.3(RAG1):c.63A>T (p.Pro21=) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001421649]|not provided [RCV000942000] Chr11:36573367 [GRCh38]
Chr11:36594917 [GRCh37]
Chr11:11p12
likely benign
NM_000448.3(RAG1):c.2468A>G (p.Asn823Ser) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001041476] Chr11:36575772 [GRCh38]
Chr11:36597322 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.656G>A (p.Arg219Gln) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001043434] Chr11:36573960 [GRCh38]
Chr11:36595510 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.2126G>C (p.Gly709Ala) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001050136] Chr11:36575430 [GRCh38]
Chr11:36596980 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.824G>A (p.Ser275Asn) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001050691] Chr11:36574128 [GRCh38]
Chr11:36595678 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.2753G>A (p.Arg918His) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001055272] Chr11:36576057 [GRCh38]
Chr11:36597607 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.1181G>A (p.Arg394Gln) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001070571]|not provided [RCV002223987] Chr11:36574485 [GRCh38]
Chr11:36596035 [GRCh37]
Chr11:11p12
pathogenic|likely pathogenic
NM_000448.3(RAG1):c.2918G>C (p.Arg973Pro) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001070572] Chr11:36576222 [GRCh38]
Chr11:36597772 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.1207A>T (p.Thr403Ser) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001071923]|Histiocytic medullary reticulosis [RCV001106442]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV001106441] Chr11:36574511 [GRCh38]
Chr11:36596061 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.549G>A (p.Met183Ile) single nucleotide variant Combined immunodeficiency due to partial RAG1 deficiency [RCV000768064] Chr11:36573853 [GRCh38]
Chr11:36595403 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.1993G>A (p.Glu665Lys) single nucleotide variant not provided [RCV000788421] Chr11:36575297 [GRCh38]
Chr11:36596847 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.2004C>T (p.His668=) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001439891]|not provided [RCV000966485] Chr11:36575308 [GRCh38]
Chr11:36596858 [GRCh37]
Chr11:11p12
likely benign
NM_000448.3(RAG1):c.150G>A (p.Lys50=) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001407455]|not provided [RCV000982600] Chr11:36573454 [GRCh38]
Chr11:36595004 [GRCh37]
Chr11:11p12
likely benign
NM_000448.3(RAG1):c.1674G>C (p.Lys558Asn) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001067050]|Histiocytic medullary reticulosis [RCV001108645]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV001108646] Chr11:36574978 [GRCh38]
Chr11:36596528 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.432G>T (p.Lys144Asn) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000792032] Chr11:36573736 [GRCh38]
Chr11:36595286 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.2488A>T (p.Lys830Ter) single nucleotide variant RAG1-Related Disorders [RCV000778323]|not provided [RCV001784382] Chr11:36575792 [GRCh38]
Chr11:36597342 [GRCh37]
Chr11:11p12
pathogenic|likely pathogenic
NM_000448.3(RAG1):c.432G>A (p.Lys144=) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000980761] Chr11:36573736 [GRCh38]
Chr11:36595286 [GRCh37]
Chr11:11p12
likely benign
NM_000448.3(RAG1):c.1821C>T (p.Asp607=) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000939004] Chr11:36575125 [GRCh38]
Chr11:36596675 [GRCh37]
Chr11:11p12
likely benign
NM_000448.3(RAG1):c.1468A>G (p.Thr490Ala) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000820451] Chr11:36574772 [GRCh38]
Chr11:36596322 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.1256A>G (p.Lys419Arg) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000795280] Chr11:36574560 [GRCh38]
Chr11:36596110 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.1180C>T (p.Arg394Trp) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000817355]|not provided [RCV001575075] Chr11:36574484 [GRCh38]
Chr11:36596034 [GRCh37]
Chr11:11p12
pathogenic
NM_000448.3(RAG1):c.2060G>A (p.Ser687Asn) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000800919] Chr11:36575364 [GRCh38]
Chr11:36596914 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.997T>C (p.Tyr333His) single nucleotide variant Combined immunodeficiency due to partial RAG1 deficiency [RCV001839023]|Combined immunodeficiency with skin granulomas [RCV000798507] Chr11:36574301 [GRCh38]
Chr11:36595851 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.2140C>T (p.Leu714Phe) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000808659] Chr11:36575444 [GRCh38]
Chr11:36596994 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.2332C>T (p.Arg778Trp) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000988529]|Combined immunodeficiency with skin granulomas [RCV001389161] Chr11:36575636 [GRCh38]
Chr11:36597186 [GRCh37]
Chr11:11p12
pathogenic
NM_000448.3(RAG1):c.1154T>C (p.Ile385Thr) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000812563] Chr11:36574458 [GRCh38]
Chr11:36596008 [GRCh37]
Chr11:11p12
likely benign|uncertain significance
NM_000448.3(RAG1):c.994C>T (p.Arg332Ter) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000804696] Chr11:36574298 [GRCh38]
Chr11:36595848 [GRCh37]
Chr11:11p12
pathogenic
NM_000448.3(RAG1):c.248C>T (p.Ala83Val) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000807306] Chr11:36573552 [GRCh38]
Chr11:36595102 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.394C>T (p.Pro132Ser) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000812740] Chr11:36573698 [GRCh38]
Chr11:36595248 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.2204C>T (p.Ala735Val) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000809722] Chr11:36575508 [GRCh38]
Chr11:36597058 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.416G>T (p.Gly139Val) single nucleotide variant not provided [RCV000788309] Chr11:36573720 [GRCh38]
Chr11:36595270 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.2516A>T (p.His839Leu) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000800055] Chr11:36575820 [GRCh38]
Chr11:36597370 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.1210C>T (p.Arg404Trp) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000817183]|not provided [RCV000788766] Chr11:36574514 [GRCh38]
Chr11:36596064 [GRCh37]
Chr11:11p12
pathogenic|likely pathogenic
NM_000448.3(RAG1):c.283G>A (p.Glu95Lys) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000824140] Chr11:36573587 [GRCh38]
Chr11:36595137 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.517A>T (p.Thr173Ser) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000821505] Chr11:36573821 [GRCh38]
Chr11:36595371 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.1559T>C (p.Phe520Ser) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000795118] Chr11:36574863 [GRCh38]
Chr11:36596413 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.1618G>A (p.Gly540Arg) single nucleotide variant not provided [RCV000788428] Chr11:36574922 [GRCh38]
Chr11:36596472 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.2240A>C (p.His747Pro) single nucleotide variant not provided [RCV000788763] Chr11:36575544 [GRCh38]
Chr11:36597094 [GRCh37]
Chr11:11p12
likely pathogenic
GRCh37/hg19 11p13-12(chr11:34183318-36860753)x3 copy number gain not provided [RCV000845975] Chr11:34183318..36860753 [GRCh37]
Chr11:11p13-12
uncertain significance
NM_000448.3(RAG1):c.967del (p.Val323fs) deletion not provided [RCV001009031] Chr11:36574271 [GRCh38]
Chr11:36595821 [GRCh37]
Chr11:11p12
pathogenic
NM_000448.3(RAG1):c.1048_1075delinsAAAAGAGTG (p.Val350fs) indel not provided [RCV001009035] Chr11:36574352..36574379 [GRCh38]
Chr11:36595902..36595929 [GRCh37]
Chr11:11p12
pathogenic
NM_000448.3(RAG1):c.1494G>C (p.Gln498His) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001212946] Chr11:36574798 [GRCh38]
Chr11:36596348 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.94C>G (p.Leu32Val) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000818000] Chr11:36573398 [GRCh38]
Chr11:36594948 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.232C>G (p.Gln78Glu) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000812323]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV002265892] Chr11:36573536 [GRCh38]
Chr11:36595086 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.1012A>C (p.Thr338Pro) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV000800766] Chr11:36574316 [GRCh38]
Chr11:36595866 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.2161C>G (p.Leu721Val) single nucleotide variant not provided [RCV000788507] Chr11:36575465 [GRCh38]
Chr11:36597015 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.2248A>T (p.Thr750Ser) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001222037] Chr11:36575552 [GRCh38]
Chr11:36597102 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.276C>A (p.His92Gln) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001240630] Chr11:36573580 [GRCh38]
Chr11:36595130 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.2878G>T (p.Ala960Ser) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001217159] Chr11:36576182 [GRCh38]
Chr11:36597732 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.1981_1983del (p.Met661del) deletion Combined immunodeficiency due to partial RAG1 deficiency [RCV002069307]|Combined immunodeficiency with skin granulomas [RCV001234668] Chr11:36575285..36575287 [GRCh38]
Chr11:36596835..36596837 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.2877G>A (p.Trp959Ter) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001242919] Chr11:36576181 [GRCh38]
Chr11:36597731 [GRCh37]
Chr11:11p12
pathogenic
NM_000448.3(RAG1):c.308A>G (p.His103Arg) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001241537] Chr11:36573612 [GRCh38]
Chr11:36595162 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.471G>T (p.Lys157Asn) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001238378] Chr11:36573775 [GRCh38]
Chr11:36595325 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.791AGA[1] (p.Lys265del) microsatellite Combined immunodeficiency with skin granulomas [RCV001240968] Chr11:36574093..36574095 [GRCh38]
Chr11:36595643..36595645 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.1160T>C (p.Val387Ala) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001226092] Chr11:36574464 [GRCh38]
Chr11:36596014 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.470A>G (p.Lys157Arg) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001218779] Chr11:36573774 [GRCh38]
Chr11:36595324 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.*2654A>G single nucleotide variant Histiocytic medullary reticulosis [RCV001107479]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV001107478] Chr11:36579090 [GRCh38]
Chr11:36600640 [GRCh37]
Chr11:11p12
benign
NM_000448.3(RAG1):c.*363T>C single nucleotide variant Histiocytic medullary reticulosis [RCV001105492]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV001105493] Chr11:36576799 [GRCh38]
Chr11:36598349 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.*1146C>T single nucleotide variant Histiocytic medullary reticulosis [RCV001105598]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV001105599] Chr11:36577582 [GRCh38]
Chr11:36599132 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.*1178G>A single nucleotide variant Histiocytic medullary reticulosis [RCV001105600]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV001105601] Chr11:36577614 [GRCh38]
Chr11:36599164 [GRCh37]
Chr11:11p12
benign
NM_000448.3(RAG1):c.*2012T>C single nucleotide variant Histiocytic medullary reticulosis [RCV001105703]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV001105702] Chr11:36578448 [GRCh38]
Chr11:36599998 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.360_367del (p.Asp121fs) deletion Combined immunodeficiency with skin granulomas [RCV000988527] Chr11:36573660..36573667 [GRCh38]
Chr11:36595210..36595217 [GRCh37]
Chr11:11p12
pathogenic
NM_000448.3(RAG1):c.*1124C>T single nucleotide variant Histiocytic medullary reticulosis [RCV001103663]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV001103662] Chr11:36577560 [GRCh38]
Chr11:36599110 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.3106G>C (p.Glu1036Gln) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001230181] Chr11:36576410 [GRCh38]
Chr11:36597960 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.*1074G>A single nucleotide variant Histiocytic medullary reticulosis [RCV001108810]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV001108811] Chr11:36577510 [GRCh38]
Chr11:36599060 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.15C>G (p.Phe5Leu) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001246920] Chr11:36573319 [GRCh38]
Chr11:36594869 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.831G>A (p.Lys277=) single nucleotide variant Histiocytic medullary reticulosis [RCV001103397]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV001103396] Chr11:36574135 [GRCh38]
Chr11:36595685 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.425G>A (p.Arg142Gln) single nucleotide variant Histiocytic medullary reticulosis [RCV001106352]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV001106353] Chr11:36573729 [GRCh38]
Chr11:36595279 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.486T>A (p.Asp162Glu) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001448444]|Histiocytic medullary reticulosis [RCV001106355]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV001106354] Chr11:36573790 [GRCh38]
Chr11:36595340 [GRCh37]
Chr11:11p12
likely benign|uncertain significance
NM_000448.3(RAG1):c.993C>T (p.Cys331=) single nucleotide variant not provided [RCV000894897] Chr11:36574297 [GRCh38]
Chr11:36595847 [GRCh37]
Chr11:11p12
likely benign
NM_000448.3(RAG1):c.*362T>C single nucleotide variant Histiocytic medullary reticulosis [RCV001105491]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV001105490] Chr11:36576798 [GRCh38]
Chr11:36598348 [GRCh37]
Chr11:11p12
uncertain significance
NM_000448.3(RAG1):c.*1978C>T single nucleotide variant Histiocytic medullary reticulosis [RCV001105701]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV001105700] Chr11:36578414 [GRCh38]
Chr11:36599964 [GRCh37]
Chr11:11p12
benign
NM_000448.3(RAG1):c.1801T>G (p.Ser601Ala) single nucleotide variant Combined immunodeficiency with skin granulomas [RCV001221930] Chr11:36575105 [GRCh38]
Chr11:36596655&nbs