A total 172 pathogenic variants reported in gene recombination activating 2 (RAG2)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr) SNV
Germline		 Chr11:36592736 Conflicting classifications of pathogenicity Severe combined immunodeficiency, B cell-negative
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Recombinase activating gene 2 deficiency
Inborn error of immunity
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Histiocytic medullary reticulosis		 Criteria Provided
Conflicting Classifications
 CA122849 rs_121918573

6 SubmittersRCV000014009RCV000681602RCV003460470RCV003764566RCV005049335RCV006638619
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln) SNV
Germline		 Chr11:36593483 Pathogenic Severe combined immunodeficiency, B cell-negative
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Recombinase activating gene 2 deficiency
Inborn error of immunity
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Condition: not provided
Combined immunodeficiency with skin granulomas
Recombinase activating gene 2 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Reviewed By Expert Panel
 CA122854 rs_121917894

10 SubmittersRCV000014010RCV000014011RCV000681586RCV001049147RCV001813982RCV003473086RCV003398499RCV005042039RCV005867750
NM_000536.4(RAG2):c.123C>G (p.Cys41Trp) SNV
Germline		 Chr11:36594046 Pathogenic/Likely pathogenic Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Recombinase activating gene 2 deficiency
Inborn error of immunity
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122857 rs_121917895

3 SubmittersRCV000014012RCV000681574RCV001851843
NM_000536.4(RAG2):c.854T>G (p.Met285Arg) SNV
Germline		 Chr11:36593315 Likely pathogenic Histiocytic medullary reticulosis
Recombinase activating gene 2 deficiency
Inborn error of immunity
Histiocytic medullary reticulosis
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122859 rs_121917896

3 SubmittersRCV000014013RCV000681589RCV005237374
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg) SNV
Germline		 Chr11:36593886 Likely pathogenic Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Combined immunodeficiency with skin granulomas
Recombinase activating gene 2 deficiency
Condition: not provided		 Reviewed By Expert Panel
 CA122861 rs_36001797

8 SubmittersRCV000014014RCV000671154RCV001043887RCV003473087RCV003398500RCV004700229
NM_000536.4(RAG2):c.115A>G (p.Arg39Gly) SNV
Germline		 Chr11:36594054 Pathogenic Severe combined immunodeficiency, B cell-negative
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Recombinase activating gene 2 deficiency
Inborn error of immunity
Recombinase activating gene 2 deficiency		 Reviewed By Expert Panel
 CA122867 rs_121917897

3 SubmittersRCV000014017RCV000014018RCV000681573RCV003991458
NM_000536.4(RAG2):c.230C>A (p.Thr77Asn) SNV
Germline		 Chr11:36593939 Likely pathogenic Combined immunodeficiency with skin granulomas
Combined immunodeficiency with skin granulomas
Recombinase activating gene 2 deficiency
Inborn error of immunity
Histiocytic medullary reticulosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122870 rs_121918574

4 SubmittersRCV000014019RCV000681578RCV006638620
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala) SNV
Germline		 Chr11:36592817 Pathogenic Combined immunodeficiency with skin granulomas
Condition: not provided
Recombinase activating gene 2 deficiency
Inborn error of immunity
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Common variable immunodeficiency
Severe combined immunodeficiency disease
Recombinase activating gene 2 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis		 Reviewed By Expert Panel
 CA122872 rs_121918575

13 SubmittersRCV000014020RCV000521152RCV000681597RCV000821298RCV001027616RCV001731284RCV003398501RCV005042040RCV006638621
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) SNV
Germline		 Chr11:36594065 Pathogenic Severe combined immunodeficiency disease
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Recombinase activating gene 2 deficiency
Inborn error of immunity
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
RAG2-related disorder
Condition: not provided
Recombinase activating gene 2 deficiency
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Histiocytic medullary reticulosis		 Reviewed By Expert Panel
 CA214209 rs_148508754

11 SubmittersRCV000030395RCV000819784RCV000681571RCV003137544RCV003473149RCV004755751RCV005229834RCV004765309RCV005042098RCV006638717
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu) SNV
Germline		 Chr11:36592922 Likely pathogenic Histiocytic medullary reticulosis
Recombinase activating gene 2 deficiency
Inborn error of immunity
Histiocytic medullary reticulosis
Condition: not provided
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
RAG2-related disorder
Recombinase activating gene 2 deficiency
Combined immunodeficiency with skin granulomas		 Reviewed By Expert Panel
 CA214212 rs_193922572

9 SubmittersRCV000030396RCV000681591RCV000788782RCV001389165RCV003407371RCV003991463RCV003473150
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys) SNV
Germline		 Chr11:36592860 Likely pathogenic not specified
Condition: not provided
Recombinase activating gene 2 deficiency
Inborn error of immunity
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency
Combined immunodeficiency with skin granulomas
Recombinase activating gene 2 deficiency
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Histiocytic medullary reticulosis		 Reviewed By Expert Panel
 CA214215 rs_193922573

7 SubmittersRCV000030397RCV000413563RCV000681592RCV003473151RCV003991464RCV005042099RCV006638718
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys) SNV
Germline		 Chr11:36593952 Likely pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe combined immunodeficiency disease
Histiocytic medullary reticulosis
Recombinase activating gene 2 deficiency
Combined immunodeficiency with skin granulomas
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis		 Reviewed By Expert Panel
 CA214218 rs_193922574

7 SubmittersRCV001059752RCV001731320RCV001831615RCV003325303RCV003473152RCV005049396
NM_000536.4(RAG2):c.418C>T (p.His140Tyr) SNV
Germline		 Chr11:36593751 Likely pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis		 Criteria Provided
Single Submitter
 rs_147155709

2 SubmittersRCV005225063RCV005610823
NM_000536.4(RAG2):c.547T>C (p.Phe183Leu) SNV
Germline		 Chr11:36593622 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA235830 rs_786205468

1 SubmittersRCV000171193
NM_000536.4(RAG2):c.140A>T (p.His47Leu) SNV
Germline		 Chr11:36594029 Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Conflicting Classifications
 CA5950619 rs_776913146

2 SubmittersRCV000299706RCV000356700RCV002520718
NM_000536.4(RAG2):c.1517G>A (p.Arg506His) SNV
Germline		 Chr11:36592652 Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Conflicting Classifications
 CA5950401 rs_144812762

2 SubmittersRCV000268156RCV000320901RCV001247256
NM_000536.4(RAG2):c.63G>A (p.Leu21=) SNV
Germline		 Chr11:36594106 Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Conflicting Classifications
 CA5950627 rs_142797325

3 SubmittersRCV000259547RCV000317157RCV000898892
NM_000536.4(RAG2):c.518A>G (p.Asn173Ser) SNV
Germline		 Chr11:36593651 Conflicting classifications of pathogenicity Condition: not provided
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
not specified		 Criteria Provided
Conflicting Classifications
 CA5950561 rs_766735610

3 SubmittersRCV000412743RCV005044628RCV004689729
NM_000536.4(RAG2):c.539C>A (p.Pro180His) SNV
Germline		 Chr11:36593630 Pathogenic/Likely pathogenic Condition: not provided
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency
Recombinase activating gene 2 deficiency
Inborn error of immunity		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16619320 rs_1064793251

2 SubmittersRCV000481067RCV000681583
NM_000536.4(RAG2):c.479C>T (p.Ser160Leu) SNV
Germline		 Chr11:36593690 Conflicting classifications of pathogenicity Condition: not provided
Histiocytic medullary reticulosis
Recombinase activating gene 2 deficiency
Inborn error of immunity		 Criteria Provided
Conflicting Classifications
 CA5950568 rs_756694972

2 SubmittersRCV000479386RCV000681582
NM_000536.4(RAG2):c.464T>C (p.Leu155Pro) SNV
Germline		 Chr11:36593705 Pathogenic/Likely pathogenic Condition: not provided
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency disease
Histiocytic medullary reticulosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16619321 rs_1064793250

5 SubmittersRCV000478082RCV001865427RCV003476152RCV005431692RCV006640655
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) SNV
Germline		 Chr11:36593976 Likely pathogenic Condition: not provided
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Recombinase activating gene 2 deficiency
Inborn error of immunity
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency disease
Recombinase activating gene 2 deficiency		 Reviewed By Expert Panel
 CA380144219 rs_909264507

6 SubmittersRCV000489480RCV000681576RCV002496885RCV002526041RCV003226307RCV003403136
NM_000536.4(RAG2):c.1391G>A (p.Arg464His) SNV
Germline		 Chr11:36592778 Conflicting classifications of pathogenicity Condition: not provided
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Conflicting Classifications
 CA5950422 rs_147748696

4 SubmittersRCV000497469RCV001104243RCV001104244RCV001086733
NM_000536.4(RAG2):c.1504A>G (p.Met502Val) SNV
Germline		 Chr11:36592665 Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Recombinase activating gene 2 deficiency
Inborn error of immunity
Histiocytic medullary reticulosis
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Condition: not provided
not specified
RAG2-related disorder		 Criteria Provided
Conflicting Classifications
 CA5950404 rs_145614809

11 SubmittersRCV000669183RCV000645688RCV000681604RCV001103958RCV001103959RCV001579122RCV001653875RCV002282190RCV003925510
NM_000536.4(RAG2):c.595G>T (p.Glu199Ter) SNV
Germline		 Chr11:36593574 Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5950551 rs_748727021

2 SubmittersRCV000547792RCV001834778
NM_000536.4(RAG2):c.1321C>A (p.Pro441Thr) SNV
Germline		 Chr11:36592848 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA380140623 rs_1336343565

1 SubmittersRCV005251152
NM_000536.4(RAG2):c.1442A>C (p.His481Pro) SNV
Germline		 Chr11:36592727 Conflicting classifications of pathogenicity Inborn error of immunity
Recombinase activating gene 2 deficiency
Histiocytic medullary reticulosis		 Criteria Provided
Conflicting Classifications
 CA380140350 rs_1564995465

2 SubmittersRCV000681603RCV006640772
NM_000536.4(RAG2):c.1375A>C (p.Met459Leu) SNV
Germline		 Chr11:36592794 Likely pathogenic Histiocytic medullary reticulosis
Inborn error of immunity
Combined immunodeficiency with skin granulomas
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency
Recombinase activating gene 2 deficiency
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380140499 rs_1204766339

3 SubmittersRCV000681600RCV001378887RCV001834862
NM_000536.4(RAG2):c.1366G>A (p.Ala456Thr) SNV
Germline		 Chr11:36592803 Likely pathogenic Histiocytic medullary reticulosis
Inborn error of immunity
Recombinase activating gene 2 deficiency		 Criteria Provided
Single Submitter
 CA380140519 rs_1564995611

1 SubmittersRCV000681599
NM_000536.4(RAG2):c.1357T>A (p.Trp453Arg) SNV
Germline		 Chr11:36592812 Likely pathogenic Histiocytic medullary reticulosis
Inborn error of immunity
Recombinase activating gene 2 deficiency
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Recombinase activating gene 2 deficiency
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Reviewed By Expert Panel
 CA380140542 rs_1564995627

5 SubmittersRCV000681598RCV001389163RCV001834861RCV003403379RCV005044876
NM_000536.4(RAG2):c.1338C>G (p.Cys446Trp) SNV
Germline		 Chr11:36592831 Likely pathogenic Inborn error of immunity
Recombinase activating gene 2 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Recombinase activating gene 2 deficiency		 Reviewed By Expert Panel
 CA380140584 rs_1564995660

4 SubmittersRCV000681596RCV002283492RCV003492115
NM_000536.4(RAG2):c.1332C>G (p.Ile444Met) SNV
Germline		 Chr11:36592837 Likely pathogenic Histiocytic medullary reticulosis
Inborn error of immunity
Recombinase activating gene 2 deficiency
Histiocytic medullary reticulosis
Recombinase activating gene 2 deficiency
Severe combined immunodeficiency, B cell-negative		 Reviewed By Expert Panel
 CA380140600 rs_1564995662

4 SubmittersRCV000681595RCV001331311RCV003991476RCV004527390
NM_000536.4(RAG2):c.1329G>T (p.Met443Ile) SNV
Germline		 Chr11:36592840 Likely pathogenic Histiocytic medullary reticulosis
Inborn error of immunity
Recombinase activating gene 2 deficiency		 Criteria Provided
Single Submitter
 CA380140608 rs_773710101

1 SubmittersRCV000681594
NM_000536.4(RAG2):c.1320A>C (p.Lys440Asn) SNV
Germline		 Chr11:36592849 Likely pathogenic Histiocytic medullary reticulosis
Inborn error of immunity
Recombinase activating gene 2 deficiency		 Criteria Provided
Single Submitter
 CA5950436 rs_754413772

1 SubmittersRCV000681593
NM_000536.4(RAG2):c.685C>T (p.Arg229Trp) SNV
Germline		 Chr11:36593484 Pathogenic Histiocytic medullary reticulosis
Inborn error of immunity
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Recombinase activating gene 2 deficiency
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Recombinase activating gene 2 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Condition: not provided		 Reviewed By Expert Panel
 CA5950542 rs_765298019

7 SubmittersRCV000681587RCV001042148RCV001273255RCV003471948RCV003991475RCV005420216RCV005632510
NM_000536.4(RAG2):c.583T>G (p.Tyr195Asp) SNV
Germline		 Chr11:36593586 Likely pathogenic Recombinase activating gene 2 deficiency
Inborn error of immunity		 Criteria Provided
Single Submitter
 CA380142545 rs_1479328926

1 SubmittersRCV000681584
NM_000536.4(RAG2):c.470G>T (p.Gly157Val) SNV
Germline		 Chr11:36593699 Likely pathogenic Histiocytic medullary reticulosis
Inborn error of immunity
Recombinase activating gene 2 deficiency		 Criteria Provided
Single Submitter
 CA380142919 rs_1564997121

1 SubmittersRCV000681581
NM_000536.4(RAG2):c.283G>C (p.Gly95Arg) SNV
Germline		 Chr11:36593886 Conflicting classifications of pathogenicity Histiocytic medullary reticulosis
Inborn error of immunity
Recombinase activating gene 2 deficiency
Histiocytic medullary reticulosis		 Criteria Provided
Conflicting Classifications
 CA380143806 rs_36001797

2 SubmittersRCV000681579RCV005606679
NM_000536.4(RAG2):c.218G>A (p.Arg73His) SNV
Germline		 Chr11:36593951 Pathogenic/Likely pathogenic Histiocytic medullary reticulosis
Histiocytic medullary reticulosis
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency
Recombinase activating gene 2 deficiency
Inborn error of immunity
Immunodeficiency 104
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5950607 rs_762407838

7 SubmittersRCV000626255RCV000681577RCV001815003RCV002530946RCV003471947RCV005044875
NM_000536.4(RAG2):c.186C>A (p.Phe62Leu) SNV
Germline		 Chr11:36593983 Likely pathogenic Combined immunodeficiency with skin granulomas
Recombinase activating gene 2 deficiency
Inborn error of immunity		 Criteria Provided
Single Submitter
 CA380144251 rs_1564997563

1 SubmittersRCV000681575
NM_000536.4(RAG2):c.104G>T (p.Gly35Val) SNV
Germline		 Chr11:36594065 Pathogenic/Likely pathogenic Histiocytic medullary reticulosis
Inborn error of immunity
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Recombinase activating gene 2 deficiency
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
RAG2-related disorder
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency disease
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380144622 rs_148508754

7 SubmittersRCV000681572RCV001219165RCV001834860RCV003420026RCV003471946RCV005056255RCV005860112
NM_000536.4(RAG2):c.955G>T (p.Gly319Ter) SNV
Germline		 Chr11:36593214 Likely pathogenic Condition: not provided
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Recombinase activating gene 2 deficiency
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis		 Reviewed By Expert Panel
 CA220579698 rs_879541124

5 SubmittersRCV000595625RCV001220628RCV003403398RCV003465344RCV006640788
NM_000536.4(RAG2):c.1268G>A (p.Cys423Tyr) SNV
Germline		 Chr11:36592901 Pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis		 Criteria Provided
Single Submitter
 CA5950444 rs_768567592

2 SubmittersRCV000645685RCV001835894
NM_000536.4(RAG2):c.1396C>T (p.Leu466Phe) SNV
Germline		 Chr11:36592773 Likely pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Condition: not provided
Recombinase activating gene 2 deficiency
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Severe combined immunodeficiency disease		 Reviewed By Expert Panel
 CA380140455 rs_1590713653

7 SubmittersRCV000806149RCV001104241RCV001104242RCV003480843RCV003492174RCV005049699RCV005902013
NM_000536.4(RAG2):c.367C>T (p.Arg123Cys) SNV
Germline		 Chr11:36593802 Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Conflicting Classifications
 CA5950585 rs_147319483

5 SubmittersRCV000874937RCV001104353RCV001104352RCV001331313RCV003224483
NM_000536.4(RAG2):c.477C>T (p.Arg159=) SNV
Germline		 Chr11:36593692 Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
not specified
RAG2-related disorder		 Criteria Provided
Conflicting Classifications
 CA5950569 rs_141659100

5 SubmittersRCV000954539RCV001104350RCV001104351RCV001175480RCV003943067
NM_000536.4(RAG2):c.629T>C (p.Ile210Thr) SNV
Germline		 Chr11:36593540 Pathogenic Common variable immunodeficiency Criteria Provided
Single Submitter
 CA380142446 rs_1590715754

1 SubmittersRCV001027617
NM_000536.4(RAG2):c.419A>G (p.His140Arg) SNV
Germline		 Chr11:36593750 Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380143161 rs_1335036396

3 SubmittersRCV001046638RCV001832439RCV005912480
NM_000536.4(RAG2):c.1209T>C (p.Asn403=) SNV
Germline		 Chr11:36592960 Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Conflicting Classifications
 CA474032805 rs_1351286949

2 SubmittersRCV001104246RCV001104245RCV001419564
NM_000536.4(RAG2):c.1074G>A (p.Glu358=) SNV
Germline		 Chr11:36593095 Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Conflicting Classifications
 CA5950480 rs_557047531

3 SubmittersRCV001107674RCV001107673RCV001519036
NM_000536.4(RAG2):c.174G>A (p.Lys58=) SNV
Germline		 Chr11:36593995 Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Conflicting Classifications
 CA5950612 rs_202020106

2 SubmittersRCV001104355RCV001104354RCV001458719
NM_000536.4(RAG2):c.1290G>A (p.Trp430Ter) SNV
Germline		 Chr11:36592879 Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Combined immunodeficiency with skin granulomas		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380140688 rs_1434362838

3 SubmittersRCV001220928RCV002491690RCV003473774
NM_000536.4(RAG2):c.1492A>T (p.Lys498Ter) SNV
Germline		 Chr11:36592677 Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
RAG2-related disorder
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Conflicting Classifications
 CA5950406 rs_373151027

5 SubmittersRCV001228693RCV001833977RCV003918788RCV005040056
NM_000536.4(RAG2):c.1367C>A (p.Ala456Asp) SNV
Germline		 Chr11:36592802 Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Conflicting Classifications
 CA380140517 rs_1479440369

3 SubmittersRCV001300504RCV001835435RCV005040143
NM_000536.4(RAG2):c.1025G>A (p.Gly342Glu) SNV
Germline		 Chr11:36593144 Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5950488 rs_367615315

3 SubmittersRCV001297485RCV001835408RCV006372461
NM_000536.4(RAG2):c.826G>A (p.Gly276Ser) SNV
Germline		 Chr11:36593343 Pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Single Submitter
 CA380142032 rs_1851074701

1 SubmittersRCV001313623
NM_000536.4(RAG2):c.686G>C (p.Arg229Pro) SNV
Germline		 Chr11:36593483 Pathogenic/Likely pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380142321 rs_121917894

2 SubmittersRCV001331314RCV003227962
NM_000536.4(RAG2):c.110C>T (p.Pro37Leu) SNV
Germline		 Chr11:36594059 Conflicting classifications of pathogenicity Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Conflicting Classifications
 CA380144592 rs_1851104914

2 SubmittersRCV001331310RCV003227961
NM_000536.4(RAG2):c.1328T>C (p.Met443Thr) SNV
Germline		 Chr11:36592841 Likely pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Single Submitter
 CA380140611 rs_1406618487

1 SubmittersRCV001379226
NM_000536.4(RAG2):c.442C>T (p.Arg148Ter) SNV
Germline		 Chr11:36593727 Pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Condition: not provided
Combined immunodeficiency with skin granulomas		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380143053 rs_1315729938

4 SubmittersRCV001386499RCV001826170RCV003394023RCV003473967
NM_000536.4(RAG2):c.1365T>C (p.His455=) SNV
Germline		 Chr11:36592804 Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA220579027 rs_369276846

2 SubmittersRCV001478678RCV004801024
NM_000536.4(RAG2):c.1295C>T (p.Pro432Leu) SNV
Germline		 Chr11:36592874 Conflicting classifications of pathogenicity not specified
Combined immunodeficiency with skin granulomas		 Criteria Provided
Conflicting Classifications
 CA380140676 rs_753677011

2 SubmittersRCV001779459RCV003475084
NM_000536.4(RAG2):c.475C>T (p.Arg159Cys) SNV
Germline		 Chr11:36593694 Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Condition: not provided
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5950570 rs_764485070

7 SubmittersRCV001824243RCV001869833RCV002503333RCV004720949RCV003475102RCV006638976RCV005432805
NM_000536.4(RAG2):c.130G>T (p.Gly44Ter) SNV
Germline		 Chr11:36594039 Pathogenic Condition: not provided
Recombinase activating gene 2 deficiency
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Reviewed By Expert Panel
 CA380144505 rs_1440633758

5 SubmittersRCV004774534RCV003401875RCV003471043RCV006639099RCV001943182
NM_000536.4(RAG2):c.686G>T (p.Arg229Leu) SNV
Germline		 Chr11:36593483 Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5950541 rs_121917894

2 SubmittersRCV001998712RCV006639342
NM_000536.4(RAG2):c.913C>G (p.Pro305Ala) SNV
Germline		 Chr11:36593256 Likely pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5950503 rs_370666759

2 SubmittersRCV002002843RCV006639325
NM_000536.4(RAG2):c.469G>A (p.Gly157Arg) SNV
Germline		 Chr11:36593700 Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Single Submitter
 CA380142925 rs_756676209

1 SubmittersRCV002022809
NM_000536.4(RAG2):c.476G>A (p.Arg159His) SNV
Germline		 Chr11:36593693 Likely pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Single Submitter
 CA380142898 rs_2133314621

1 SubmittersRCV002040484
NM_000536.4(RAG2):c.470G>C (p.Gly157Ala) SNV
Germline		 Chr11:36593699 Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Single Submitter
 CA380142921 rs_1564997121

1 SubmittersRCV002030270
NM_000536.4(RAG2):c.608G>A (p.Gly203Glu) SNV
Germline		 Chr11:36593561 Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Single Submitter
 CA380142489 rs_1851081720

1 SubmittersRCV002043766
NM_000536.4(RAG2):c.914C>T (p.Pro305Leu) SNV
Germline		 Chr11:36593255 Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Single Submitter
 CA5950502 rs_756192655

1 SubmittersRCV003061066
NM_000536.4(RAG2):c.95G>A (p.Gly32Glu) SNV
Germline		 Chr11:36594074 Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380144682 rs_1224542443

2 SubmittersRCV003058303RCV006262341
NM_000536.4(RAG2):c.486G>A (p.Met162Ile) SNV
Germline		 Chr11:36593683 Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5950566 rs_767924789

2 SubmittersRCV003072560RCV005473324
NM_000536.4(RAG2):c.122G>A (p.Cys41Tyr) SNV
Germline		 Chr11:36594047 Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Single Submitter
 CA380144546 rs_2494799758

1 SubmittersRCV002577362
NM_000536.4(RAG2):c.1375A>G (p.Met459Val) SNV
Germline		 Chr11:36592794 Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
not specified		 Criteria Provided
Conflicting Classifications
 CA380140498 rs_1204766339

2 SubmittersRCV002667969RCV004700805
NM_000536.4(RAG2):c.3G>A (p.Met1Ile) SNV
Germline		 Chr11:36594166 Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Recombinase activating gene 2 deficiency		 Reviewed By Expert Panel
 CA380145362 rs_2494801025

2 SubmittersRCV002847102RCV003991484
NM_000536.4(RAG2):c.653T>A (p.Ile218Asn) SNV
Germline		 Chr11:36593516 Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380142392 rs_2494794434

2 SubmittersRCV002851216RCV005045007
NM_000536.4(RAG2):c.1024G>T (p.Gly342Ter) SNV
Germline		 Chr11:36593145 Pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Single Submitter
 CA380141304 rs_2494791063

1 SubmittersRCV002894152
NM_000536.4(RAG2):c.284G>A (p.Gly95Glu) SNV
Germline		 Chr11:36593885 Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
not specified
Histiocytic medullary reticulosis		 Criteria Provided
Conflicting Classifications
 CA380143798 rs_2494798051

3 SubmittersRCV002958786RCV006262579RCV005608814
NM_000536.4(RAG2):c.303T>A (p.Asn101Lys) SNV
Germline		 Chr11:36593866 Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380143718 rs_2133315445

2 SubmittersRCV003017779RCV006454313
NM_000536.4(RAG2):c.217C>G (p.Arg73Gly) SNV
Germline		 Chr11:36593952 Likely pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380144113 rs_193922574

2 SubmittersRCV003031080RCV006641119
NM_000536.4(RAG2):c.951G>A (p.Trp317Ter) SNV
Germline		 Chr11:36593218 Pathogenic/Likely pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380141631 rs_2494791806

2 SubmittersRCV003472566RCV003779085
NM_000536.4(RAG2):c.1038T>A (p.Tyr346Ter) SNV
Unknown		 Chr11:36593131 Likely pathogenic Combined immunodeficiency with skin granulomas Criteria Provided
Single Submitter
 CA380141271 rs_1174918583

1 SubmittersRCV003463447
NM_000536.4(RAG2):c.479C>A (p.Ser160Ter) SNV
Germline		 Chr11:36593690 Pathogenic/Likely pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380142890 rs_756694972

3 SubmittersRCV003471783RCV003779087RCV005047613
NM_000536.4(RAG2):c.1043T>A (p.Leu348Ter) SNV
Germline		 Chr11:36593126 Likely pathogenic Condition: not provided
Histiocytic medullary reticulosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380141259 rs_2494790882

2 SubmittersRCV003489411RCV006643036
NM_000536.4(RAG2):c.103G>A (p.Gly35Ser) SNV
Germline		 Chr11:36594066 Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Single Submitter
 CA380144633 rs_2494799990

1 SubmittersRCV003785398
NM_000536.4(RAG2):c.1210G>T (p.Glu404Ter) SNV
Germline		 Chr11:36592959 Pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Single Submitter
 CA380140871 rs_2494789497

1 SubmittersRCV003790464
NM_000536.4(RAG2):c.1257C>G (p.Cys419Trp) SNV
Germline		 Chr11:36592912 Pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Single Submitter
 CA380140760 rs_1434109608

1 SubmittersRCV003786917
NM_000536.4(RAG2):c.1441C>G (p.His481Asp) SNV
Germline		 Chr11:36592728 Pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Single Submitter
 CA5950415 rs_762054841

1 SubmittersRCV003793654
NM_000536.4(RAG2):c.1442A>G (p.His481Arg) SNV
Germline		 Chr11:36592727 Pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Single Submitter
 CA380140349 rs_1564995465

1 SubmittersRCV003796928
NM_000536.4(RAG2):c.951G>T (p.Trp317Cys) SNV
Germline		 Chr11:36593218 Pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Single Submitter
 CA380141628 rs_2494791806

1 SubmittersRCV003809722
NM_000536.4(RAG2):c.1329G>C (p.Met443Ile) SNV
Germline		 Chr11:36592840 Pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Single Submitter
 CA380140607 rs_773710101

1 SubmittersRCV003815428
NM_000536.4(RAG2):c.831T>A (p.Tyr277Ter) SNV
Unknown		 Chr11:36593338 Likely pathogenic Combined immunodeficiency with skin granulomas Criteria Provided
Single Submitter
 rs_2494793071

1 SubmittersRCV004574684
NM_000536.4(RAG2):c.41T>A (p.Leu14Ter) SNV
Unknown		 Chr11:36594128 Likely pathogenic Combined immunodeficiency with skin granulomas Criteria Provided
Single Submitter
 rs_2494800701

1 SubmittersRCV004574689
NM_000536.4(RAG2):c.1409C>G (p.Ser470Ter) SNV
Germline		 Chr11:36592760 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV004599030
NM_000536.4(RAG2):c.1442A>T (p.His481Leu) SNV
Germline		 Chr11:36592727 Conflicting classifications of pathogenicity not specified
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004689536RCV005040752
NM_000536.4(RAG2):c.749C>G (p.Thr250Arg) SNV
Germline		 Chr11:36593420 Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Criteria Provided
Single Submitter

1 SubmittersRCV004720203
NM_000536.4(RAG2):c.10C>T (p.Gln4Ter) SNV
Germline		 Chr11:36594159 Likely pathogenic Salla disease
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Single Submitter

1 SubmittersRCV004813323RCV005860447
NM_000536.4(RAG2):c.1369C>T (p.Gln457Ter) SNV
Germline		 Chr11:36592800 Likely pathogenic Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Single Submitter

1 SubmittersRCV005046752
NM_000536.4(RAG2):c.1340C>G (p.Ser447Cys) SNV
Germline		 Chr11:36592829 Likely pathogenic Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Single Submitter

1 SubmittersRCV005046753
NM_000536.4(RAG2):c.1019C>A (p.Ser340Ter) SNV
Germline		 Chr11:36593150 Likely pathogenic Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Single Submitter

1 SubmittersRCV005046755
NM_000536.4(RAG2):c.921G>A (p.Trp307Ter) SNV
Germline		 Chr11:36593248 Pathogenic Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005046757RCV006564324
NM_000536.4(RAG2):c.793C>T (p.Gln265Ter) SNV
Germline		 Chr11:36593376 Likely pathogenic Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Single Submitter

1 SubmittersRCV005046759
NM_000536.4(RAG2):c.516G>A (p.Trp172Ter) SNV
Germline		 Chr11:36593653 Likely pathogenic Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005050116RCV006637294
NM_000536.4(RAG2):c.1357T>C (p.Trp453Arg) SNV
Germline		 Chr11:36592812 Pathogenic Severe combined immunodeficiency disease Criteria Provided
Single Submitter

1 SubmittersRCV005088298
NM_000536.4(RAG2):c.913C>T (p.Pro305Ser) SNV
Germline		 Chr11:36593256 Likely pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Single Submitter

1 SubmittersRCV005228996
NM_000536.4(RAG2):c.950G>T (p.Trp317Leu) SNV
Germline		 Chr11:36593219 Likely pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Single Submitter

1 SubmittersRCV005226522
NM_000536.4(RAG2):c.607G>A (p.Gly203Arg) SNV
Germline		 Chr11:36593562 Likely pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Single Submitter

1 SubmittersRCV005222013
NM_000536.4(RAG2):c.284G>T (p.Gly95Val) SNV
Germline		 Chr11:36593885 Likely pathogenic Histiocytic medullary reticulosis Criteria Provided
Single Submitter

1 SubmittersRCV005607819
NM_000536.4(RAG2):c.184T>G (p.Phe62Val) SNV
Germline		 Chr11:36593985 Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Criteria Provided
Single Submitter

1 SubmittersRCV005859741
NM_000536.4(RAG2):c.1357T>G (p.Trp453Gly) SNV
Germline		 Chr11:36592812 Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Single Submitter

1 SubmittersRCV006599659
NM_000536.4(RAG2):c.1330A>T (p.Ile444Phe) SNV
Germline		 Chr11:36592839 Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Single Submitter

1 SubmittersRCV006600814
NM_000536.4(RAG2):c.1324G>A (p.Ala442Thr) SNV
Germline		 Chr11:36592845 Likely pathogenic Recombinase activating gene 2 deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006636528
NM_000536.4(RAG2):c.1260C>A (p.Cys420Ter) SNV
Germline		 Chr11:36592909 Likely pathogenic Histiocytic medullary reticulosis Criteria Provided
Single Submitter

1 SubmittersRCV006637532
NM_000536.4(RAG2):c.1335C>A (p.Tyr445Ter) SNV
Germline		 Chr11:36592834 Likely pathogenic Histiocytic medullary reticulosis Criteria Provided
Single Submitter

1 SubmittersRCV006637533
NM_000536.4(RAG2):c.1438G>T (p.Glu480Ter) SNV
Germline		 Chr11:36592731 Pathogenic Histiocytic medullary reticulosis Criteria Provided
Single Submitter

1 SubmittersRCV006637534
NM_000536.4(RAG2):c.41T>G (p.Leu14Ter) SNV
Germline		 Chr11:36594128 Likely pathogenic Histiocytic medullary reticulosis Criteria Provided
Single Submitter

1 SubmittersRCV006637535
NM_000536.4(RAG2):c.508G>T (p.Glu170Ter) SNV
Germline		 Chr11:36593661 Likely pathogenic Histiocytic medullary reticulosis Criteria Provided
Single Submitter

1 SubmittersRCV006637537
NM_000536.4(RAG2):c.509A>G (p.Glu170Gly) SNV
Germline		 Chr11:36593660 Likely pathogenic Histiocytic medullary reticulosis Criteria Provided
Single Submitter

1 SubmittersRCV006637538