Total 172 pathogenic variants reported for Severe combined immunodeficiency disease 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_203447.4(DOCK8):c.1418A>G (p.Lys473Arg) SNV
Germline		 Chr9:336714 Pathogenic Combined immunodeficiency due to DOCK8 deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA114673 rs_112321280

3 SubmittersRCV000000999RCV006263610
NM_000022.4(ADA):c.302G>A (p.Arg101Gln) SNV
Germline		 Chr20:44626516 Pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Condition: not provided
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA251998 rs_121908714

9 SubmittersRCV000002033RCV000788281RCV003234887
NM_000022.4(ADA):c.890C>A (p.Pro297Gln) SNV
Germline		 Chr20:44621103 Conflicting classifications of pathogenicity Partial adenosine deaminase deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Condition: not provided
ADA-related disorder
Severe combined immunodeficiency disease		 Criteria Provided
Conflicting Classifications
 CA115277 rs_121908718

8 SubmittersRCV000002038RCV000059115RCV002260959RCV004752679RCV005429211
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) SNV
Germline		 Chr20:44626498 Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Condition: not provided
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252006 rs_121908739

12 SubmittersRCV000002042RCV000255602RCV001731270
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) SNV
Germline		 Chr20:44625581 Pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Severe combined immunodeficiency disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252011 rs_121908735

9 SubmittersRCV000002047RCV000780816RCV001588796
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) SNV
Germline		 Chr20:44621121 Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Condition: not provided
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252013 rs_121908721

15 SubmittersRCV000002048RCV000788574RCV004766976
NM_000022.4(ADA):c.221G>T (p.Gly74Val) SNV
Germline		 Chr20:44626597 Pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252016 rs_199422328

5 SubmittersRCV000002054RCV006263612
NM_000022.4(ADA):c.467G>A (p.Arg156His) SNV
Germline		 Chr20:44625580 Pathogenic/Likely pathogenic SCID due to ADA deficiency, delayed onset
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115299 rs_121908722

9 SubmittersRCV000002061RCV000059106RCV001731272
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) SNV
Germline		 Chr10:14945110 Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency
Condition: not provided
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis
Severe combined immunodeficiency disease
DCLRE1C-related disorder		 Reviewed By Expert Panel
 CA117001 rs_121908156

12 SubmittersRCV000004929RCV000224235RCV000762806RCV001272780RCV003486542RCV005229764
NM_206937.2(LIG4):c.833G>A (p.Arg278His) SNV
Germline		 Chr13:108210436 Pathogenic DNA ligase IV deficiency
Condition: not provided
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118981 rs_104894421

5 SubmittersRCV000008114RCV001092919RCV005417421
NM_001369369.1(FOXN1):c.763C>T (p.Arg255Ter) SNV
Germline		 Chr17:28529157 Pathogenic T-cell immunodeficiency, congenital alopecia, and nail dystrophy
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
Severe combined immunodeficiency disease		 Reviewed By Expert Panel
 CA119892 rs_104894562

4 SubmittersRCV000009300RCV001027389RCV004799737
NM_000536.4(RAG2):c.854T>G (p.Met285Arg) SNV
Germline		 Chr11:36593315 Likely pathogenic Histiocytic medullary reticulosis
Histiocytic medullary reticulosis
Recombinase activating gene 2 deficiency
Inborn error of immunity
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122859 rs_121917896

3 SubmittersRCV000014013RCV000681589RCV005237374
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala) SNV
Germline		 Chr11:36592817 Pathogenic Combined immunodeficiency with skin granulomas
Condition: not provided
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
Combined immunodeficiency with skin granulomas
Common variable immunodeficiency
Severe combined immunodeficiency disease
Recombinase activating gene 2 deficiency
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
 CA122872 rs_121918575

12 SubmittersRCV000014020RCV000521152RCV000681597RCV000821298RCV001027616RCV001731284RCV003398501RCV005042040
NM_000448.3(RAG1):c.2164G>A (p.Glu722Lys) SNV
Germline		 Chr11:36575468 Pathogenic Severe combined immunodeficiency, B cell-negative
Severe combined immunodeficiency disease
Condition: not provided
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency due to partial RAG1 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122874 rs_28933392

5 SubmittersRCV000014021RCV003234904RCV003311658RCV003764567RCV004566740
NM_000448.3(RAG1):c.1681C>T (p.Arg561Cys) SNV
Germline		 Chr11:36574985 Pathogenic Severe combined immunodeficiency, B cell-negative
Histiocytic medullary reticulosis
Condition: not provided
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency disease
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122901 rs_104894285

6 SubmittersRCV000014031RCV000014030RCV001091951RCV001386663RCV003473092RCV004767006RCV005229785
NM_000448.3(RAG1):c.2333G>A (p.Arg778Gln) SNV
Germline		 Chr11:36575637 Pathogenic Combined immunodeficiency with skin granulomas
Condition: not provided
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe combined immunodeficiency disease
Combined immunodeficiency due to partial RAG1 deficiency
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122916 rs_121918569

6 SubmittersRCV000014044RCV000479659RCV002513032RCV003230361RCV004566741RCV005887492
NM_000448.3(RAG1):c.2923C>T (p.Arg975Trp) SNV
Germline		 Chr11:36576227 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 disease
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122919 rs_121918570

5 SubmittersRCV000014045RCV000820053RCV003330387RCV003473096RCV005859460
NM_000448.3(RAG1):c.983G>A (p.Cys328Tyr) SNV
Germline		 Chr11:36574287 Pathogenic/Likely pathogenic Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency
Tumor predisposition syndrome 3
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122922 rs_121918571

6 SubmittersRCV000014046RCV000820844RCV003473097RCV005862711RCV005042045RCV005430929
NM_000448.3(RAG1):c.2326C>T (p.Arg776Trp) SNV
Germline		 Chr11:36575630 Pathogenic/Likely pathogenic Severe combined immunodeficiency, B cell-negative
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency disease
Condition: not provided
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122925 rs_121918572

6 SubmittersRCV000014047RCV000801211RCV003473098RCV004689417RCV005630702RCV005042046
NM_001079.4(ZAP70):c.1624-11G>A SNV
Germline		 Chr2:97737984 Pathogenic Combined immunodeficiency due to ZAP70 deficiency
Condition: not provided
ZAP70-related disorder
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256743 rs_730880318

8 SubmittersRCV000014158RCV000726208RCV003390681RCV005406742
NM_000270.4(PNP):c.265G>A (p.Glu89Lys) SNV
Germline		 Chr14:20474555 Pathogenic Purine-nucleoside phosphorylase deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123669 rs_104894453

5 SubmittersRCV000015025RCV005237380
NM_000270.4(PNP):c.520G>C (p.Ala174Pro) SNV
Germline		 Chr14:20475120 Likely pathogenic Purine-nucleoside phosphorylase deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123671 rs_104894454

4 SubmittersRCV000015026RCV004700237
NM_000270.4(PNP):c.383A>G (p.Asp128Gly) SNV
Germline		 Chr14:20474870 Pathogenic/Likely pathogenic Purine-nucleoside phosphorylase deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123673 rs_104894450

3 SubmittersRCV000015027RCV006263627
NM_000270.4(PNP):c.701G>C (p.Arg234Pro) SNV
Germline		 Chr14:20476432 Pathogenic/Likely pathogenic Purine-nucleoside phosphorylase deficiency
Condition: not provided
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123675 rs_104894451

6 SubmittersRCV000015028RCV000419921RCV002298444
NM_001625.4(AK2):c.1A>G (p.Met1Val) SNV
Germline		 Chr1:33036828 Pathogenic Reticular dysgenesis
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA127991 rs_137853206

5 SubmittersRCV000019914RCV005406755
NM_001625.4(AK2):c.498+1G>A SNV
Germline		 Chr1:33014521 Pathogenic/Likely pathogenic Reticular dysgenesis
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA747106 rs_777503956

4 SubmittersRCV000019917RCV001778659
NM_001625.4(AK2):c.556C>T (p.Arg186Cys) SNV
Germline		 Chr1:33013345 Likely pathogenic Reticular dysgenesis
Severe combined immunodeficiency disease		 Criteria Provided
Single Submitter
 CA128000 rs_267606645

2 SubmittersRCV000019920RCV002281711
NM_001625.4(AK2):c.307C>T (p.Arg103Trp) SNV
Germline		 Chr1:33021616 Pathogenic/Likely pathogenic Reticular dysgenesis
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA128003 rs_267606648

4 SubmittersRCV000019922RCV005055518
NM_002185.5(IL7R):c.353G>A (p.Cys118Tyr) SNV
Germline		 Chr5:35867437 Pathogenic Severe combined immunodeficiency disease
Immunodeficiency 104
Condition: not provided		 Reviewed By Expert Panel
 CA214043 rs_193922641

6 SubmittersRCV000030061RCV000820355RCV002307369
NM_002185.5(IL7R):c.644G>T (p.Gly215Val) SNV
Germline		 Chr5:35873586 Likely pathogenic Severe combined immunodeficiency disease
Condition: not provided
Immunodeficiency 104		 Criteria Provided
Multiple Submitters
No Conflicts
 CA214055 rs_193922645

3 SubmittersRCV000030065RCV000485085RCV002513253
NM_000215.4(JAK3):c.1744C>T (p.Arg582Trp) SNV
Germline		 Chr19:17837171 Likely pathogenic Severe combined immunodeficiency disease
T-B+ severe combined immunodeficiency due to JAK3 deficiency		 Reviewed By Expert Panel
 CA214079 rs_193922361

4 SubmittersRCV000030087RCV001852597
NM_000215.4(JAK3):c.1767C>T (p.Gly589=) SNV
Germline		 Chr19:17837148 Conflicting classifications of pathogenicity Severe combined immunodeficiency disease
Condition: not provided
T-B+ severe combined immunodeficiency due to JAK3 deficiency		 Criteria Provided
Conflicting Classifications
 CA214082 rs_193922362

4 SubmittersRCV000030088RCV000256129RCV001781323
NM_000448.3(RAG1):c.322C>T (p.Arg108Ter) SNV
Germline		 Chr11:36573626 Pathogenic/Likely pathogenic Severe combined immunodeficiency disease
Condition: not provided
RAG1-related disorder
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA214203 rs_193922464

9 SubmittersRCV000030393RCV000397265RCV000778322RCV000820376RCV001336880
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) SNV
Germline		 Chr11:36594065 Pathogenic Severe combined immunodeficiency disease
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency
Recombinase activating gene 2 deficiency
Inborn error of immunity
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
RAG2-related disorder
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
Condition: not provided		 Reviewed By Expert Panel
 CA214209 rs_148508754

10 SubmittersRCV000030395RCV000681571RCV000819784RCV003137544RCV003473149RCV004755751RCV004765309RCV005042098RCV005229834
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys) SNV
Germline		 Chr11:36593952 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
Histiocytic medullary reticulosis
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		 Reviewed By Expert Panel
 CA214218 rs_193922574

7 SubmittersRCV001059752RCV001731320RCV001831615RCV003325303RCV003473152RCV005049396
NM_001079.4(ZAP70):c.1393C>T (p.Arg465Cys) SNV
Germline		 Chr2:97737576 Likely pathogenic Combined immunodeficiency due to ZAP70 deficiency
Severe combined immunodeficiency disease
Combined immunodeficiency due to ZAP70 deficiency
Autoimmune disease, multisystem, infantile-onset, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343162 rs_113994174

3 SubmittersRCV000032160RCV004566794RCV006272083
NM_000022.4(ADA):c.302G>T (p.Arg101Leu) SNV
Germline		 Chr20:44626516 Pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA266003 rs_121908714

3 SubmittersRCV000059098RCV006456669
NM_000022.4(ADA):c.529G>A (p.Val177Met) SNV
Germline		 Chr20:44624279 Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA266016 rs_121908719

7 SubmittersRCV000059107RCV005430961
NM_000448.3(RAG1):c.1229G>A (p.Arg410Gln) SNV
Germline		 Chr11:36574533 Pathogenic/Likely pathogenic 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 disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219791 rs_199474684

5 SubmittersRCV000059559RCV002283452RCV002513782RCV005430963
NM_000448.3(RAG1):c.1297G>A (p.Val433Met) SNV
Germline		 Chr11:36574601 Pathogenic/Likely pathogenic Condition: not provided
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency disease
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
Combined immunodeficiency with skin granulomas		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219794 rs_199474679

5 SubmittersRCV000059560RCV003474643RCV003235027RCV005859490RCV006555413
NM_000448.3(RAG1):c.1303A>G (p.Met435Val) SNV
Germline		 Chr11:36574607 Pathogenic/Likely pathogenic Condition: not provided
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency due to partial RAG1 deficiency
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
Combined immunodeficiency due to partial RAG1 deficiency
RAG1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219797 rs_141524540

8 SubmittersRCV000059561RCV000762842RCV001069679RCV001804802RCV003474644RCV004734624
NM_000448.3(RAG1):c.1331C>T (p.Ala444Val) SNV
Germline		 Chr11:36574635 Pathogenic Condition: not provided
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
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency disease
Recombinase activating gene 1 deficiency
Combined immunodeficiency due to partial RAG1 deficiency		 Reviewed By Expert Panel
 CA219800 rs_199474685

8 SubmittersRCV000059562RCV000559478RCV001390074RCV002281904RCV003398651RCV003474645
NM_000448.3(RAG1):c.1421G>A (p.Arg474His) SNV
Germline		 Chr11:36574725 Pathogenic Condition: not provided
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency disease
Histiocytic medullary reticulosis
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219809 rs_199474686

8 SubmittersRCV000059565RCV000791763RCV001731478RCV002284360RCV003474647RCV002498351
NM_000448.3(RAG1):c.1677G>T (p.Arg559Ser) SNV
Germline		 Chr11:36574981 Pathogenic Condition: not provided
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
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219812 rs_199474681

4 SubmittersRCV000059566RCV001594380RCV001854249RCV003230391
NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln) SNV
Germline		 Chr11:36576228 Pathogenic/Likely pathogenic Condition: not provided
Severe combined immunodeficiency disease
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency
Thyroid cancer, nonmedullary, 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219836 rs_150739647

8 SubmittersRCV000059574RCV000780682RCV001384587RCV003474652RCV005890409RCV005042182
NM_000215.4(JAK3):c.1351C>T (p.Arg451Ter) SNV
Germline		 Chr19:17839567 Pathogenic Condition: not provided
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Severe combined immunodeficiency disease		 Reviewed By Expert Panel
 CA306136434 rs_267605358

5 SubmittersRCV001090553RCV001203764RCV003230392
NM_002185.5(IL7R):c.662G>T (p.Ser221Ile) SNV
Germline		 Chr5:35873604 Pathogenic not specified
Condition: not provided
Immunodeficiency 104
Severe combined immunodeficiency disease		 Reviewed By Expert Panel
 CA160099 rs_587778405

5 SubmittersRCV000121217RCV000414042RCV000688209RCV003479011
NM_015599.3(PGM3):c.737A>G (p.Asn246Ser) SNV
Germline		 Chr6:83181786 Pathogenic/Likely pathogenic Immunodeficiency 23
Inborn genetic diseases
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA163467 rs_587777562

5 SubmittersRCV000128844RCV003278668RCV004700435
NM_000448.3(RAG1):c.1438A>G (p.Ser480Gly) SNV
Germline		 Chr11:36574742 Conflicting classifications of pathogenicity Condition: not provided
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency disease
Histiocytic medullary reticulosis
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Conflicting Classifications
 CA235827 rs_772340017

4 SubmittersRCV000171192RCV001852063RCV003993851RCV005049455
NM_000215.4(JAK3):c.308G>A (p.Arg103His) SNV
Germline		 Chr19:17843777 Pathogenic Condition: not provided
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA236018 rs_774202259

3 SubmittersRCV000171281RCV001209588RCV005406882
NM_000022.4(ADA):c.780+1G>A SNV
Germline		 Chr20:44622828 Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA351330 rs_746052951

2 SubmittersRCV001854840RCV005055784
NM_000215.4(JAK3):c.1765G>A (p.Gly589Ser) SNV
Germline/somatic		 Chr19:17837150 Pathogenic/Likely pathogenic Condition: not provided
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Severe combined immunodeficiency disease
Adenoid cystic carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588686 rs_886039394

4 SubmittersRCV000255561RCV003509521RCV004782333RCV004813083
NM_000022.4(ADA):c.478+1G>A SNV
Germline		 Chr20:44625568 Pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Condition: not provided
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA9871670 rs_761242509

11 SubmittersRCV000002055RCV000254941RCV001731467
NM_000448.3(RAG1):c.2974A>G (p.Lys992Glu) SNV
Germline		 Chr11:36576278 Pathogenic Condition: not provided
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency due to partial RAG1 deficiency
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
RAG1-related disorder
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16042785 rs_539590514

6 SubmittersRCV000414066RCV000542154RCV003476001RCV005044626RCV004735502RCV005407086
NM_000215.4(JAK3):c.307C>T (p.Arg103Cys) SNV
Germline		 Chr19:17843778 Pathogenic/Likely pathogenic Condition: not provided
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA9302208 rs_761583890

4 SubmittersRCV000433633RCV001239083RCV005431663
NM_000022.4(ADA):c.845G>A (p.Arg282Gln) SNV
Germline		 Chr20:44622588 Pathogenic not specified
Severe combined immunodeficiency disease
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		 Reviewed By Expert Panel
 CA9871496 rs_751635016

9 SubmittersRCV000455891RCV000780818RCV000668819
NM_015599.3(PGM3):c.965T>C (p.Ile322Thr) SNV
Germline		 Chr6:83178737 Conflicting classifications of pathogenicity Condition: not provided
Immunodeficiency 23
Severe combined immunodeficiency disease		 Criteria Provided
Conflicting Classifications
 CA3906638 rs_745508510

6 SubmittersRCV000480499RCV000554532RCV004767295
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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16619321 rs_1064793250

4 SubmittersRCV000478082RCV001865427RCV003476152RCV005431692
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
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
Severe combined immunodeficiency disease
Recombinase activating gene 2 deficiency		 Reviewed By Expert Panel
 CA380144219 rs_909264507

6 SubmittersRCV000489480RCV000681576RCV002496885RCV002526041RCV003226307RCV003403136
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys) SNV
Germline		 Chr14:64417926 Pathogenic/Likely pathogenic Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Condition: not provided
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7225962 rs_141210410

6 SubmittersRCV000515545RCV001340738RCV002509418
NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe) SNV
Germline		 Chr14:64411109 Pathogenic/Likely pathogenic Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Condition: not provided
Severe combined immunodeficiency disease
Neural tube defects, folate-sensitive
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7225850 rs_370444838

6 SubmittersRCV000515546RCV001380971RCV001797742RCV005004206
NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter) SNV
Germline		 Chr11:36575993 Pathogenic Condition: not provided
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe combined immunodeficiency disease
Combined immunodeficiency due to partial RAG1 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 due to partial RAG1 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA220564442 rs_757797994

5 SubmittersRCV000579006RCV001041560RCV001731796RCV002491148RCV003471920
NM_000536.4(RAG2):c.104G>T (p.Gly35Val) SNV
Germline		 Chr11:36594065 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
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
RAG2-related disorder
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 SubmittersRCV000681572RCV001219165RCV001834860RCV003471946RCV003420026RCV005056255RCV005860112
NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter) SNV
Germline		 Chr6:83170370 Pathogenic/Likely pathogenic Immunodeficiency 23
Severe combined immunodeficiency disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3906509 rs_144104577

5 SubmittersRCV000613688RCV003226337RCV004719898
NM_000270.4(PNP):c.286-18G>A SNV
Germline		 Chr14:20474755 Pathogenic/Likely pathogenic Purine-nucleoside phosphorylase deficiency
Severe combined immunodeficiency disease
Acute myeloid leukemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7082090 rs_1026474882

6 SubmittersRCV000606768RCV003479170RCV005898769
NM_000022.4(ADA):c.424C>T (p.Arg142Ter) SNV
Germline		 Chr20:44625623 Pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Severe combined immunodeficiency disease
ADA-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA9871676 rs_780014431

9 SubmittersRCV000668278RCV001731865RCV004752986
NM_000022.4(ADA):c.95+1G>A SNV
Germline		 Chr20:44636226 Pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA409122421 rs_778343059

6 SubmittersRCV000670969RCV001731875
NM_000022.4(ADA):c.716G>A (p.Gly239Asp) SNV
Germline		 Chr20:44622893 Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA409120283 rs_1312320956

5 SubmittersRCV000671054RCV006268936
NM_000022.4(ADA):c.311C>T (p.Pro104Leu) SNV
Germline		 Chr20:44626507 Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA409121365 rs_1452483770

4 SubmittersRCV000685056RCV003155284
NM_002185.5(IL7R):c.707-2A>G SNV
Germline		 Chr5:35874447 Pathogenic Severe combined immunodeficiency disease Criteria Provided
Single Submitter
 CA359431436 rs_1561424886

1 SubmittersRCV000735986
NM_000448.3(RAG1):c.1210C>T (p.Arg404Trp) SNV
Germline		 Chr11:36574514 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
Severe combined immunodeficiency disease
Combined immunodeficiency due to partial RAG1 deficiency
RAG1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5950113 rs_764981110

5 SubmittersRCV000788766RCV000817183RCV003226392RCV003472327RCV004538084
NM_000270.4(PNP):c.769C>G (p.His257Asp) SNV
Germline		 Chr14:20476500 Pathogenic/Likely pathogenic Condition: not provided
Purine-nucleoside phosphorylase deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA389146119 rs_1247497521

3 SubmittersRCV000788357RCV000819434RCV005438032
NM_001079.4(ZAP70):c.109C>G (p.Arg37Gly) SNV
Germline		 Chr2:97724145 Pathogenic/Likely pathogenic Severe combined immunodeficiency disease
Combined immunodeficiency due to ZAP70 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347788105 rs_1573261820

2 SubmittersRCV003486934RCV006271671
NM_015599.3(PGM3):c.1135T>C (p.Phe379Leu) SNV
Germline		 Chr6:83174481 Conflicting classifications of pathogenicity Immunodeficiency 23
Condition: not provided
Severe combined immunodeficiency disease		 Criteria Provided
Conflicting Classifications
 CA3906601 rs_774568856

4 SubmittersRCV000812253RCV001597218RCV005438036
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
Recombinase activating gene 2 deficiency
Condition: not provided
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 SubmittersRCV000806149RCV001104241RCV001104242RCV003492174RCV003480843RCV005049699RCV005902013
NM_000448.3(RAG1):c.1181G>A (p.Arg394Gln) SNV
Germline		 Chr11:36574485 Pathogenic/Likely pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Condition: not provided
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380151740 rs_1850805503

4 SubmittersRCV001070571RCV002223987RCV003473700RCV005432570
NM_000448.3(RAG1):c.1228C>T (p.Arg410Trp) SNV
Germline		 Chr11:36574532 Pathogenic/Likely pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5950115 rs_758288006

4 SubmittersRCV001065315RCV002282448RCV003473687RCV005432562
NM_000448.3(RAG1):c.2917C>T (p.Arg973Cys) SNV
Germline		 Chr11:36576221 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
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380135985 rs_1389614116

4 SubmittersRCV001060735RCV001706717RCV003473673RCV004702616
NM_000536.4(RAG2):c.419A>G (p.His140Arg) SNV
Germline		 Chr11:36593750 Likely pathogenic 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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380143161 rs_1335036396

3 SubmittersRCV001046638RCV001832439RCV005912480
NM_206937.2(LIG4):c.845A>T (p.His282Leu) SNV
Germline		 Chr13:108210424 Pathogenic DNA ligase IV deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7043790 rs_777008519

2 SubmittersRCV001048790RCV002240198
NM_000022.4(ADA):c.377C>A (p.Pro126Gln) SNV
Germline		 Chr20:44625670 Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA409121223 rs_1233957241

4 SubmittersRCV001044838RCV003226425
NM_002185.5(IL7R):c.2T>G (p.Met1Arg) SNV
Germline		 Chr5:35856979 Likely pathogenic Immunodeficiency 104
Severe combined immunodeficiency disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3231813 rs_200076125

4 SubmittersRCV001219210RCV004768927RCV005627413
NM_000022.4(ADA):c.975+1G>A SNV
Germline		 Chr20:44621017 Pathogenic Severe combined immunodeficiency disease
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		 Reviewed By Expert Panel
 CA409118697 rs_2065325898

5 SubmittersRCV001732098RCV001729828
NM_001033855.3(DCLRE1C):c.406G>A (p.Asp136Asn) SNV
Germline		 Chr10:14935521 Likely pathogenic Severe combined immunodeficiency disease
Severe combined immunodeficiency due to DCLRE1C deficiency
Athabaskan severe combined immunodeficiency		 Reviewed By Expert Panel
 CA376060149 rs_1839765652

4 SubmittersRCV001267665RCV001349774RCV001835359
NM_001079.4(ZAP70):c.37G>C (p.Gly13Arg) SNV
Germline		 Chr2:97724073 Conflicting classifications of pathogenicity Combined immunodeficiency due to ZAP70 deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Conflicting Classifications
 CA347787061 rs_1340607126

2 SubmittersRCV006271736RCV006457016
NM_001625.4(AK2):c.523C>G (p.Arg175Gly) SNV
Germline		 Chr1:33013378 Likely pathogenic Severe combined immunodeficiency disease Criteria Provided
Single Submitter
 CA339699543 rs_1375379850

1 SubmittersRCV004699311
NM_001625.4(AK2):c.330+1G>C SNV
Germline		 Chr1:33021592 Likely pathogenic Severe combined immunodeficiency disease Criteria Provided
Single Submitter
 CA339702181 rs_1639559794

1 SubmittersRCV001732127
NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr) SNV
Germline		 Chr10:14953964 Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis
Severe combined immunodeficiency disease		 Reviewed By Expert Panel
 CA376065954 rs_1317003987

4 SubmittersRCV001381226RCV003462975RCV005429351
NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln) SNV
Germline		 Chr11:36574515 Pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Condition: not provided
Histiocytic medullary reticulosis
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5950114 rs_750055861

10 SubmittersRCV001385111RCV001579945RCV002488205RCV003473957RCV005432700
NM_015599.3(PGM3):c.-2-185C>T SNV
Germline		 Chr6:83191199 Pathogenic/Likely pathogenic Severe combined immunodeficiency disease
Condition: not provided
Immunodeficiency 23		 Criteria Provided
Multiple Submitters
No Conflicts
 CA141912071 rs_565900346

3 SubmittersRCV001733378RCV003493871RCV003746597
NM_001625.4(AK2):c.600C>G (p.Tyr200Ter) SNV
Germline		 Chr1:33013301 Likely pathogenic Severe combined immunodeficiency disease Criteria Provided
Single Submitter
 CA339699311 rs_1638959411

1 SubmittersRCV001733379
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
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
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Combined immunodeficiency with skin granulomas
Condition: not provided
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5950570 rs_764485070

6 SubmittersRCV001824243RCV001869833RCV002503333RCV003475102RCV004720949RCV005432805
NM_000270.4(PNP):c.199C>T (p.Arg67Ter) SNV
Germline		 Chr14:20474489 Pathogenic Purine-nucleoside phosphorylase deficiency
Condition: not provided
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA389144867 rs_754734713

5 SubmittersRCV002034794RCV002034793RCV005238007
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe) SNV
Germline		 Chr10:14953916 Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis
Ehlers-Danlos syndrome, kyphoscoliotic type 1
Aicardi-Goutieres syndrome 1
Severe combined immunodeficiency disease
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis		 Reviewed By Expert Panel
 CA203404964 rs_969498121

5 SubmittersRCV001965262RCV003471090RCV004526885RCV004542188RCV004577007RCV005042564
NM_001556.3(IKBKB):c.2205+2T>C SNV
Germline		 Chr8:42329216 Likely pathogenic Severe combined immunodeficiency disease Criteria Provided
Single Submitter
 CA371094952 rs_2130736002

1 SubmittersRCV002238602
NM_203447.4(DOCK8):c.1174C>T (p.Gln392Ter) SNV
Germline		 Chr9:334273 Pathogenic/Likely pathogenic Severe combined immunodeficiency disease
Combined immunodeficiency due to DOCK8 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA187758823 rs_372598000

2 SubmittersRCV002266193RCV006558717
NM_000073.3(CD3G):c.271C>T (p.Gln91Ter) SNV
Germline		 Chr11:118349934 Likely pathogenic Severe combined immunodeficiency disease Criteria Provided
Single Submitter
 CA382792837 rs_1948391148

1 SubmittersRCV002266218
NM_015599.3(PGM3):c.1539+2T>C SNV
Germline		 Chr6:83170303 Likely pathogenic Severe combined immunodeficiency disease Criteria Provided
Single Submitter
 CA364878199 rs_1786839596

1 SubmittersRCV002266321
NM_005956.4(MTHFD1):c.1006C>T (p.Arg336Ter) SNV
Germline		 Chr14:64426071 Likely pathogenic Severe combined immunodeficiency disease Criteria Provided
Single Submitter
 CA261835495 rs_920392170

1 SubmittersRCV002266422
NM_001033855.3(DCLRE1C):c.1265C>G (p.Ser422Ter) SNV
Germline		 Chr10:14909222 Pathogenic/Likely pathogenic Severe combined immunodeficiency disease
Severe combined immunodeficiency due to DCLRE1C deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA376076431 rs_1354336544

2 SubmittersRCV002271740RCV003096109
NM_000448.3(RAG1):c.2327G>A (p.Arg776Gln) SNV
Germline		 Chr11:36575631 Pathogenic/Likely pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency due to partial RAG1 deficiency
RAG1-related disorder
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380154478 rs_1254739284

4 SubmittersRCV003096337RCV003475325RCV004529119RCV005438140
NM_000073.3(CD3G):c.484-1G>A SNV
Germline		 Chr11:118352403 Likely pathogenic Severe combined immunodeficiency disease Criteria Provided
Single Submitter
 CA382794486 rs_1948418139

1 SubmittersRCV002281890
NM_001033855.3(DCLRE1C):c.161+2T>G SNV
Germline		 Chr10:14949034 Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency disease		 Reviewed By Expert Panel
 CA376064378 rs_2492399115

3 SubmittersRCV002302438RCV004801193
NM_006282.5(STK4):c.831+2T>C SNV
Germline		 Chr20:44997308 Likely pathogenic Severe combined immunodeficiency disease Criteria Provided
Single Submitter
 CA409125466 rs_2515632815

1 SubmittersRCV002302530
NM_000270.4(PNP):c.601G>T (p.Glu201Ter) SNV
Germline		 Chr14:20475201 Pathogenic/Likely pathogenic Severe combined immunodeficiency disease
Purine-nucleoside phosphorylase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257418300 rs_922257453

2 SubmittersRCV002469964RCV003775503
NM_005356.5(LCK):c.277C>T (p.Gln93Ter) SNV
Germline		 Chr1:32275082 Likely pathogenic Severe combined immunodeficiency disease Criteria Provided
Single Submitter
 CA339636740 rs_2521644688

1 SubmittersRCV002470002
NM_000448.3(RAG1):c.2522G>A (p.Arg841Gln) SNV
Germline		 Chr11:36575826 Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Condition: not provided
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency disease
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5950278 rs_748296558

5 SubmittersRCV003062360RCV003130813RCV003475495RCV003317640RCV005045199
NM_000536.4(RAG2):c.95G>A (p.Gly32Glu) SNV
Germline		 Chr11:36594074 Pathogenic/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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380144682 rs_1224542443

2 SubmittersRCV003058303RCV006262341
NM_005956.4(MTHFD1):c.2629C>T (p.Gln877Ter) SNV
Germline		 Chr14:64454786 Likely pathogenic Severe combined immunodeficiency disease Criteria Provided
Single Submitter
 CA390003573 rs_2550508430

1 SubmittersRCV002510474
NM_000448.3(RAG1):c.2345T>A (p.Val782Asp) SNV
Germline		 Chr11:36575649 Likely pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency disease
Combined immunodeficiency due to partial RAG1 deficiency
Histiocytic medullary reticulosis
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
 CA220601518 rs_200300629

4 SubmittersRCV003108847RCV004572850RCV004701001RCV005051260
NM_203447.4(DOCK8):c.137G>A (p.Gly46Asp) SNV
Germline		 Chr9:271710 Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 3, autosomal recessive
Severe combined immunodeficiency disease		 Criteria Provided
Conflicting Classifications
 CA187758124 rs_758437810

2 SubmittersRCV005416641RCV005433242
NM_000536.4(RAG2):c.303T>A (p.Asn101Lys) SNV
Germline		 Chr11:36593866 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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380143718 rs_2133315445

2 SubmittersRCV003017779RCV006454313
NM_001369369.1(FOXN1):c.340C>T (p.Arg114Ter) SNV
Germline		 Chr17:28524719 Pathogenic T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Severe combined immunodeficiency disease		 Reviewed By Expert Panel
 CA398321249 rs_1223585973

3 SubmittersRCV003000196RCV005239597
NM_006282.5(STK4):c.395C>A (p.Ser132Ter) SNV
Germline		 Chr20:44987166 Likely pathogenic Severe combined immunodeficiency disease Criteria Provided
Single Submitter
 CA409124200 rs_2515613848

1 SubmittersRCV003123457
NM_002185.5(IL7R):c.788T>A (p.Leu263Ter) SNV
Germline		 Chr5:35874530 Pathogenic/Likely pathogenic Severe combined immunodeficiency disease
Immunodeficiency 104		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359431799 rs_1369125529

2 SubmittersRCV003155650RCV003626814
NM_000733.4(CD3E):c.288T>A (p.Tyr96Ter) SNV
Germline		 Chr11:118312802 Pathogenic/Likely pathogenic Severe combined immunodeficiency disease
Immunodeficiency 18		 Criteria Provided
Multiple Submitters
No Conflicts
 CA382782740 rs_1419311230

2 SubmittersRCV003155755RCV003778929
NM_005956.4(MTHFD1):c.1807G>T (p.Glu603Ter) SNV
Germline		 Chr14:64440258 Likely pathogenic Severe combined immunodeficiency disease Criteria Provided
Single Submitter
 CA389995981 rs_146862861

1 SubmittersRCV003226773
NM_000448.3(RAG1):c.2209C>T (p.Arg737Cys) SNV
Germline		 Chr11:36575513 Pathogenic/Likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5950227 rs_760816389

4 SubmittersRCV003475554RCV003779861RCV005047483RCV005433371
NM_001033855.3(DCLRE1C):c.1645C>T (p.Gln549Ter) SNV
Germline		 Chr10:14908842 Pathogenic Severe combined immunodeficiency disease Criteria Provided
Single Submitter
 CA376075136 rs_2491626059

1 SubmittersRCV003236472
NM_000215.4(JAK3):c.2141C>T (p.Thr714Met) SNV
Germline/somatic		 Chr19:17834910 Pathogenic Severe combined immunodeficiency disease
Neoplasm
T-B+ severe combined immunodeficiency due to JAK3 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA9301675 rs_140655992

3 SubmittersRCV003324318RCV004673872RCV005029981
NM_000215.4(JAK3):c.1915-11G>A SNV
Germline		 Chr19:17835226 Likely pathogenic Severe combined immunodeficiency disease Criteria Provided
Single Submitter
 CA2582342946 rs_2147683334

1 SubmittersRCV003331678
NM_000448.3(RAG1):c.691C>T (p.Gln231Ter) SNV
Germline		 Chr11:36573995 Pathogenic Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380149361 rs_1257740588

3 SubmittersRCV003472555RCV005220720RCV005240779
NM_000448.3(RAG1):c.2918G>A (p.Arg973His) SNV
Germline		 Chr11:36576222 Pathogenic/Likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency disease
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency due to partial RAG1 deficiency
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380135994 rs_1384545687

4 SubmittersRCV003472557RCV003779081RCV005438178RCV005047610
NM_000022.4(ADA):c.845G>T (p.Arg282Leu) SNV
Germline		 Chr20:44622588 Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA409119817 rs_751635016

2 SubmittersRCV003475674RCV004587504
NM_206937.2(LIG4):c.833G>T (p.Arg278Leu) SNV
Germline		 Chr13:108210436 Pathogenic DNA ligase IV deficiency
Multiple myeloma
DNA ligase IV deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388619863 rs_104894421

3 SubmittersRCV003509002RCV005013036RCV004690433
NM_000215.4(JAK3):c.2712C>A (p.Tyr904Ter) SNV
Germline		 Chr19:17831767 Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA404765720 rs_1187805545

3 SubmittersRCV003621812RCV004783086
NM_000215.4(JAK3):c.1205G>A (p.Arg402His) SNV
Germline		 Chr19:17840279 Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA9301961 rs_767428670

2 SubmittersRCV003622200RCV006264131
NM_000448.3(RAG1):c.612G>A (p.Trp204Ter) SNV
Germline		 Chr11:36573916 Pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency due to partial RAG1 deficiency
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380147121 rs_1199316807

3 SubmittersRCV003803268RCV005040525RCV005407254
NM_000215.4(JAK3):c.1442-2A>G SNV
Germline		 Chr19:17838392 Likely pathogenic Severe combined immunodeficiency disease
T-B+ severe combined immunodeficiency due to JAK3 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA404770106 rs_2094229647

2 SubmittersRCV004527242RCV005023566
NM_001033855.3(DCLRE1C):c.353G>T (p.Gly118Val) SNV
Germline		 Chr10:14936547 Pathogenic/Likely pathogenic Severe combined immunodeficiency disease
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1839956628

3 SubmittersRCV004586189RCV005038726RCV006489012
NM_000448.3(RAG1):c.2189G>T (p.Cys730Phe) SNV
Germline		 Chr11:36575493 Pathogenic/Likely pathogenic Severe combined immunodeficiency disease
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency
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
 rs_770771227

3 SubmittersRCV004586278RCV005040708RCV006564984
NM_000022.4(ADA):c.466C>A (p.Arg156Ser) SNV
Germline		 Chr20:44625581 Likely pathogenic Severe combined immunodeficiency disease Criteria Provided
Single Submitter
 rs_121908735

1 SubmittersRCV004586345
NM_001369369.1(FOXN1):c.880G>A (p.Val294Ile) SNV
Germline		 Chr17:28530798 Pathogenic T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Severe combined immunodeficiency disease		 Reviewed By Expert Panel

3 SubmittersRCV004775659RCV005419786
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_203447.4(DOCK8):c.643C>T (p.Gln215Ter) SNV
Germline		 Chr9:312068 Pathogenic Severe combined immunodeficiency disease Criteria Provided
Single Submitter

1 SubmittersRCV005240108
NM_002185.5(IL7R):c.379+288G>A SNV
Germline		 Chr5:35867751 Likely pathogenic Severe combined immunodeficiency disease Criteria Provided
Single Submitter

1 SubmittersRCV005417780
NM_001079.4(ZAP70):c.1561G>A (p.Asp521Asn) SNV
Germline		 Chr2:97737835 Likely pathogenic Severe combined immunodeficiency disease Criteria Provided
Single Submitter

1 SubmittersRCV006268191