Total 226 pathogenic variants reported for Histiocytic medullary reticulosis
| Variant Name |
Variant Type |
Variant Genomic Location |
Clinical Significance |
Phenotype Condition |
Review Status |
ClinGen Allele |
dbSNP ID |
Variation/condition record |
|
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_001033855.3(DCLRE1C):c.362+1G>T
|
SNV
Germline |
Chr10:14936537 |
Pathogenic |
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis |
Criteria Provided
Single Submitter
|
CA376061094 |
rs_1564446526 |
2 SubmittersRCV000004934RCV003466817 |
|
NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter)
|
SNV
Germline |
Chr10:14934461 |
Pathogenic |
Athabaskan severe combined immunodeficiency
Condition: not provided
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis |
Reviewed By Expert Panel
|
CA117004 |
rs_121908157 |
6 SubmittersRCV000004937RCV000256066RCV000703249RCV003466818 |
|
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp)
|
SNV
Germline |
Chr10:14953908 |
Pathogenic |
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency
Condition: not provided |
Reviewed By Expert Panel
|
CA117007 |
rs_121908159 |
7 SubmittersRCV000004938RCV001388406RCV005031391RCV005629899 |
|
NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr)
|
SNV
Germline |
Chr11:36592736 |
Conflicting classifications of pathogenicity |
Severe combined immunodeficiency, B cell-negative
Inborn error of immunity
Recombinase activating gene 2 deficiency
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
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive |
Criteria Provided
Conflicting Classifications
|
CA122849 |
rs_121918573 |
5 SubmittersRCV000014009RCV000681602RCV003764566RCV003460470RCV005049335 |
|
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln)
|
SNV
Germline |
Chr11:36593483 |
Pathogenic |
Histiocytic medullary reticulosis
Severe combined immunodeficiency, B cell-negative
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Inborn error of immunity
Recombinase activating gene 2 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
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
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive |
Reviewed By Expert Panel
|
CA122854 |
rs_121917894 |
9 SubmittersRCV000014011RCV000014010RCV000681586RCV001049147RCV001813982RCV003398499RCV003473086RCV005042039RCV005867750 |
|
NM_000536.4(RAG2):c.123C>G (p.Cys41Trp)
|
SNV
Germline |
Chr11:36594046 |
Pathogenic/Likely pathogenic |
Histiocytic medullary reticulosis
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Inborn error of immunity
Recombinase activating gene 2 deficiency
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
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.283G>A (p.Gly95Arg)
|
SNV
Germline |
Chr11:36593886 |
Likely pathogenic |
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
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Recombinase activating gene 2 deficiency
Combined immunodeficiency with skin granulomas
Condition: not provided |
Reviewed By Expert Panel
|
CA122861 |
rs_36001797 |
8 SubmittersRCV000014014RCV000671154RCV001043887RCV003398500RCV003473087RCV004700229 |
|
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.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.2320G>T (p.Glu774Ter)
|
SNV
Germline |
Chr11:36575624 |
Pathogenic/Likely pathogenic |
Severe combined immunodeficiency, B cell-negative
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 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
|
CA122877 |
rs_104894282 |
4 SubmittersRCV000014022RCV003473088RCV003764568RCV005042041 |
|
NM_000448.3(RAG1):c.1682G>A (p.Arg561His)
|
SNV
Germline |
Chr11:36574986 |
Pathogenic/Likely pathogenic |
Histiocytic medullary reticulosis
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, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency due to partial RAG1 deficiency
See cases
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
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
|
CA122886 |
rs_104894284 |
7 SubmittersRCV000014025RCV001332464RCV001781262RCV001384043RCV004813037RCV003473089RCV005887491RCV005042042 |
|
NM_000448.3(RAG1):c.1186C>T (p.Arg396Cys)
|
SNV
Germline |
Chr11:36574490 |
Pathogenic |
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 |
Criteria Provided
Multiple Submitters
No Conflicts
|
CA122889 |
rs_104894289 |
7 SubmittersRCV000014026RCV000059556RCV003764569RCV003473090 |
|
NM_000448.3(RAG1):c.2735A>G (p.Tyr912Cys)
|
SNV
Germline |
Chr11:36576039 |
Pathogenic |
Histiocytic medullary reticulosis |
No Assertion Criteria Provided
|
CA122892 |
rs_104894290 |
1 SubmittersRCV000014027 |
|
NM_000448.3(RAG1):c.1187G>A (p.Arg396His)
|
SNV
Germline |
Chr11:36574491 |
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
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 |
Criteria Provided
Multiple Submitters
No Conflicts
|
CA122895 |
rs_104894291 |
4 SubmittersRCV000014028RCV000688686RCV003473091RCV005049336 |
|
NM_000448.3(RAG1):c.1286A>G (p.Asp429Gly)
|
SNV
Germline |
Chr11:36574590 |
Pathogenic |
Histiocytic medullary reticulosis |
No Assertion Criteria Provided
|
CA122898 |
rs_104894292 |
1 SubmittersRCV000014029 |
|
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.2210G>A (p.Arg737His)
|
SNV
Germline |
Chr11:36575514 |
Pathogenic/Likely pathogenic |
Histiocytic medullary reticulosis
Inherited Immunodeficiency Diseases
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, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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
Combined immunodeficiency due to partial RAG1 deficiency |
Criteria Provided
Multiple Submitters
No Conflicts
|
CA122904 |
rs_104894286 |
9 SubmittersRCV000014032RCV001027614RCV001091955RCV001389160RCV003227600RCV003473093RCV005042043 |
|
NM_000448.3(RAG1):c.2521C>T (p.Arg841Trp)
|
SNV
Germline |
Chr11:36575825 |
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
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
Combined immunodeficiency due to partial RAG1 deficiency |
Criteria Provided
Multiple Submitters
No Conflicts
|
CA122907 |
rs_104894287 |
5 SubmittersRCV000014040RCV001205083RCV003137515RCV005042044 |
|
NM_000448.3(RAG1):c.1519C>T (p.Arg507Trp)
|
SNV
Germline |
Chr11:36574823 |
Conflicting classifications of pathogenicity |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
not specified
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
Conflicting Classifications
|
CA034720 |
rs_104894298 |
3 SubmittersRCV001857789RCV002307468RCV005049501 |
|
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_000448.3(RAG1):c.1566G>T (p.Trp522Cys)
|
SNV
Germline |
Chr11:36574870 |
Pathogenic |
Combined immunodeficiency with skin granulomas
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, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency |
Criteria Provided
Multiple Submitters
No Conflicts
|
CA213430 |
rs_193922461 |
8 SubmittersRCV000022745RCV000519696RCV000696949RCV003473148RCV005042097 |
|
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.1247G>T (p.Trp416Leu)
|
SNV
Germline |
Chr11:36592922 |
Likely pathogenic |
Histiocytic medullary reticulosis
Condition: not provided
Recombinase activating gene 2 deficiency
Inborn error of immunity
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
RAG2-related disorder
Combined immunodeficiency with skin granulomas
Recombinase activating gene 2 deficiency |
Reviewed By Expert Panel
|
CA214212 |
rs_193922572 |
8 SubmittersRCV000030396RCV000788782RCV000681591RCV001389165RCV003407371RCV003473150RCV003991463 |
|
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys)
|
SNV
Germline |
Chr11:36592860 |
Likely pathogenic |
not specified
Condition: not provided
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency
Recombinase activating gene 2 deficiency
Inborn error of immunity
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
Combined immunodeficiency with skin granulomas |
Reviewed By Expert Panel
|
CA214215 |
rs_193922573 |
6 SubmittersRCV000030397RCV000413563RCV000681592RCV003991464RCV005042099RCV003473151 |
|
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_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.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.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.1871G>A (p.Arg624His)
|
SNV
Germline |
Chr11:36575175 |
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 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
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive |
Criteria Provided
Multiple Submitters
No Conflicts
|
CA219818 |
rs_199474680 |
5 SubmittersRCV000059568RCV001381393RCV003474649RCV005042180RCV005859491 |
|
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp)
|
SNV
Germline |
Chr11:36575399 |
Likely pathogenic |
Condition: not provided
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 due to partial RAG1 deficiency
Recombinase activating gene 1 deficiency
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 |
Reviewed By Expert Panel
|
CA219824 |
rs_199474676 |
10 SubmittersRCV000059570RCV000548870RCV001729376RCV001293030RCV003474650RCV004765313RCV005042181 |
|
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_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_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_000448.3(RAG1):c.2005G>A (p.Glu669Lys)
|
SNV
Germline |
Chr11:36575309 |
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 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
|
CA10581269 |
rs_878853004 |
3 SubmittersRCV000223999RCV003765454RCV005044465 |
|
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=)
|
SNV
Germline |
Chr10:14919793 |
Conflicting classifications of pathogenicity |
Condition: not provided
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency |
Criteria Provided
Conflicting Classifications
|
CA5416547 |
rs_143782439 |
6 SubmittersRCV000302818RCV000373590RCV001084672 |
|
NM_001033855.3(DCLRE1C):c.1491T>C (p.Asp497=)
|
SNV
Germline |
Chr10:14908996 |
Conflicting classifications of pathogenicity |
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency
Athabaskan severe combined immunodeficiency |
Criteria Provided
Conflicting Classifications
|
CA5416467 |
rs_114767681 |
3 SubmittersRCV000263854RCV000883929RCV001833428 |
|
NM_001033855.3(DCLRE1C):c.*12G>A
|
SNV
Germline |
Chr10:14908396 |
Conflicting classifications of pathogenicity |
Histiocytic medullary reticulosis
Condition: not provided
not specified |
Criteria Provided
Conflicting Classifications
|
CA5416333 |
rs_369509998 |
3 SubmittersRCV000270519RCV004705156RCV006456981 |
|
NM_001033855.3(DCLRE1C):c.384T>C (p.Asn128=)
|
SNV
Germline |
Chr10:14935543 |
Conflicting classifications of pathogenicity |
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency |
Criteria Provided
Conflicting Classifications
|
CA10631287 |
rs_886046850 |
2 SubmittersRCV000360606RCV001417220 |
|
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
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive |
Criteria Provided
Conflicting Classifications
|
CA5950619 |
rs_776913146 |
2 SubmittersRCV000299706RCV000356700RCV002520718 |
|
NM_001033855.3(DCLRE1C):c.915G>A (p.Val305=)
|
SNV
Germline |
Chr10:14928018 |
Conflicting classifications of pathogenicity |
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency |
Criteria Provided
Conflicting Classifications
|
CA5416650 |
rs_774772480 |
3 SubmittersRCV000386471RCV000920226 |
|
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=)
|
SNV
Germline |
Chr10:14909119 |
Conflicting classifications of pathogenicity |
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency
Condition: not provided |
Criteria Provided
Conflicting Classifications
|
CA5416493 |
rs_144654282 |
5 SubmittersRCV000316668RCV000552062RCV001172032 |
|
NM_000448.3(RAG1):c.592A>C (p.Arg198=)
|
SNV
Germline |
Chr11:36573896 |
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
RAG1-related disorder |
Criteria Provided
Conflicting Classifications
|
CA5950014 |
rs_746425890 |
3 SubmittersRCV000350023RCV000406889RCV002056200RCV004544513 |
|
NM_000448.3(RAG1):c.1367C>A (p.Ala456Asp)
|
SNV
Germline |
Chr11:36574671 |
Conflicting classifications of pathogenicity |
Histiocytic medullary reticulosis
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
Conflicting Classifications
|
CA5950132 |
rs_201779957 |
2 SubmittersRCV000260296RCV000354119RCV001445356 |
|
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_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_000448.3(RAG1):c.2981A>G (p.His994Arg)
|
SNV
Germline |
Chr11:36576285 |
Conflicting classifications of pathogenicity |
Condition: not provided
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
Combined immunodeficiency due to partial RAG1 deficiency
not specified |
Criteria Provided
Conflicting Classifications
|
CA5950346 |
rs_775412266 |
4 SubmittersRCV000412932RCV000687603RCV005044627RCV005431648 |
|
NM_000536.4(RAG2):c.518A>G (p.Asn173Ser)
|
SNV
Germline |
Chr11:36593651 |
Conflicting classifications of pathogenicity |
Condition: not provided
not specified
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
|
CA5950561 |
rs_766735610 |
3 SubmittersRCV000412743RCV004689729RCV005044628 |
|
NM_000536.4(RAG2):c.479C>T (p.Ser160Leu)
|
SNV
Germline |
Chr11:36593690 |
Conflicting classifications of pathogenicity |
Condition: not provided
Recombinase activating gene 2 deficiency
Inborn error of immunity
Histiocytic medullary reticulosis |
Criteria Provided
Conflicting Classifications
|
CA5950568 |
rs_756694972 |
2 SubmittersRCV000479386RCV000681582 |
|
NM_000448.3(RAG1):c.335G>A (p.Arg112His)
|
SNV
Germline |
Chr11:36573639 |
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
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 due to partial RAG1 deficiency
Pelizaeus-Merzbacher disease |
Criteria Provided
Conflicting Classifications
|
CA5949966 |
rs_749223640 |
5 SubmittersRCV000645684RCV000489989RCV005044737RCV003476177RCV005863167 |
|
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_000536.4(RAG2):c.1391G>A (p.Arg464His)
|
SNV
Germline |
Chr11:36592778 |
Conflicting classifications of pathogenicity |
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, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive |
Criteria Provided
Conflicting Classifications
|
CA5950422 |
rs_147748696 |
4 SubmittersRCV000497469RCV001086733RCV001104243RCV001104244 |
|
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
Recombinase activating gene 2 deficiency
Inborn error of immunity
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
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
Condition: not provided
Combined immunodeficiency with skin granulomas
not specified
RAG2-related disorder |
Criteria Provided
Conflicting Classifications
|
CA5950404 |
rs_145614809 |
10 SubmittersRCV000645688RCV000681604RCV000669183RCV001103958RCV001103959RCV001653875RCV001579122RCV002282190RCV003925510 |
|
NM_000448.3(RAG1):c.999T>A (p.Tyr333Ter)
|
SNV
Germline |
Chr11:36574303 |
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 1 deficiency
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
|
CA220600683 |
rs_902350422 |
4 SubmittersRCV000521773RCV003766940RCV004765334RCV005367367 |
|
NM_000536.4(RAG2):c.595G>T (p.Glu199Ter)
|
SNV
Germline |
Chr11:36593574 |
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
|
CA5950551 |
rs_748727021 |
2 SubmittersRCV000547792RCV001834778 |
|
NM_000448.3(RAG1):c.2799A>G (p.Gly933=)
|
SNV
Germline |
Chr11:36576103 |
Conflicting classifications of pathogenicity |
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
not specified |
Criteria Provided
Conflicting Classifications
|
CA5950324 |
rs_769375583 |
3 SubmittersRCV000542779RCV001106547RCV001106548RCV005239184 |
|
NM_000448.3(RAG1):c.2571C>T (p.Ala857=)
|
SNV
Germline |
Chr11:36575875 |
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
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Condition: not provided |
Criteria Provided
Conflicting Classifications
|
CA5950290 |
rs_141560248 |
7 SubmittersRCV000544855RCV000602577RCV001105406RCV001105405RCV001703201 |
|
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.1375A>C (p.Met459Leu)
|
SNV
Germline |
Chr11:36592794 |
Likely pathogenic |
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
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
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
Recombinase activating gene 2 deficiency
Inborn error of immunity |
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
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
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
|
CA380140542 |
rs_1564995627 |
5 SubmittersRCV000681598RCV001389163RCV001834861RCV003403379RCV005044876 |
|
NM_000536.4(RAG2):c.1332C>G (p.Ile444Met)
|
SNV
Germline |
Chr11:36592837 |
Likely pathogenic |
Histiocytic medullary reticulosis
Recombinase activating gene 2 deficiency
Histiocytic medullary reticulosis
Recombinase activating gene 2 deficiency
Inborn error of immunity
Severe combined immunodeficiency, B cell-negative |
Reviewed By Expert Panel
|
CA380140600 |
rs_1564995662 |
4 SubmittersRCV001331311RCV003991476RCV000681595RCV004527390 |
|
NM_000536.4(RAG2):c.1329G>T (p.Met443Ile)
|
SNV
Germline |
Chr11:36592840 |
Likely pathogenic |
Histiocytic medullary reticulosis
Recombinase activating gene 2 deficiency
Inborn error of immunity |
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
Recombinase activating gene 2 deficiency
Inborn error of immunity |
Criteria Provided
Single Submitter
|
CA5950436 |
rs_754413772 |
1 SubmittersRCV000681593 |
|
NM_000536.4(RAG2):c.685C>T (p.Arg229Trp)
|
SNV
Germline |
Chr11:36593484 |
Pathogenic |
Inborn error of immunity
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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
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.470G>T (p.Gly157Val)
|
SNV
Germline |
Chr11:36593699 |
Likely pathogenic |
Histiocytic medullary reticulosis
Recombinase activating gene 2 deficiency
Inborn error of immunity |
Criteria Provided
Single Submitter
|
CA380142919 |
rs_1564997121 |
1 SubmittersRCV000681581 |
|
NM_000536.4(RAG2):c.218G>A (p.Arg73His)
|
SNV
Germline |
Chr11:36593951 |
Conflicting classifications of pathogenicity |
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
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
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
|
CA5950607 |
rs_762407838 |
6 SubmittersRCV000626255RCV000681577RCV001815003RCV002530946RCV003471947RCV005044875 |
|
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_000448.3(RAG1):c.3016A>G (p.Met1006Val)
|
SNV
Germline |
Chr11:36576320 |
Conflicting classifications of pathogenicity |
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
not specified
RAG1-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
|
CA5950353 |
rs_139113046 |
7 SubmittersRCV000645690RCV001108725RCV001108724RCV001544721RCV001805777RCV004533380RCV005392216 |
|
NM_000536.4(RAG2):c.1268G>A (p.Cys423Tyr)
|
SNV
Germline |
Chr11:36592901 |
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
|
CA5950444 |
rs_768567592 |
2 SubmittersRCV000645685RCV001835894 |
|
NM_000448.3(RAG1):c.2348C>G (p.Ser783Ter)
|
SNV
Germline |
Chr11:36575652 |
Pathogenic/Likely pathogenic |
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, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Combined immunodeficiency due to partial RAG1 deficiency |
Criteria Provided
Multiple Submitters
No Conflicts
|
CA5950251 |
rs_754502950 |
3 SubmittersRCV000695106RCV000768065RCV003472218 |
|
NM_000448.3(RAG1):c.424C>T (p.Arg142Ter)
|
SNV
Germline |
Chr11:36573728 |
Pathogenic |
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 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
Recombinase activating gene 1 deficiency
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive |
Reviewed By Expert Panel
|
CA5949977 |
rs_773929270 |
7 SubmittersRCV000768299RCV000988528RCV001869060RCV002250692RCV003396335RCV003472289RCV006459884 |
|
NM_001033855.3(DCLRE1C):c.754C>T (p.Gln252Ter)
|
SNV
Germline |
Chr10:14932880 |
Pathogenic/Likely pathogenic |
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis |
Criteria Provided
Multiple Submitters
No Conflicts
|
CA376058366 |
rs_1589050343 |
2 SubmittersRCV000824500RCV003467525 |
|
NM_000448.3(RAG1):c.994C>T (p.Arg332Ter)
|
SNV
Germline |
Chr11:36574298 |
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
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
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
|
CA5950082 |
rs_568867325 |
3 SubmittersRCV000804696RCV003472380RCV005047087 |
|
NM_000448.3(RAG1):c.1180C>T (p.Arg394Trp)
|
SNV
Germline |
Chr11:36574484 |
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, 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, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis |
Criteria Provided
Multiple Submitters
No Conflicts
|
CA380151733 |
rs_1590702874 |
6 SubmittersRCV000817355RCV001575075RCV003473497RCV004813142RCV005047106 |
|
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_001033855.3(DCLRE1C):c.1587A>C (p.Ser529=)
|
SNV
Germline |
Chr10:14908900 |
Conflicting classifications of pathogenicity |
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis |
Criteria Provided
Conflicting Classifications
|
CA5416450 |
rs_529177486 |
3 SubmittersRCV000877167RCV001102549 |
|
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_000448.3(RAG1):c.276C>T (p.His92=)
|
SNV
Germline |
Chr11:36573580 |
Conflicting classifications of pathogenicity |
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
|
CA5949940 |
rs_550985019 |
2 SubmittersRCV001103312RCV001103311RCV001468010 |
|
NM_001033855.3(DCLRE1C):c.1602C>T (p.Ser534=)
|
SNV
Germline |
Chr10:14908885 |
Conflicting classifications of pathogenicity |
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis |
Criteria Provided
Conflicting Classifications
|
CA5416448 |
rs_61745540 |
3 SubmittersRCV000919657RCV001102548 |
|
NM_001033855.3(DCLRE1C):c.741A>G (p.Thr247=)
|
SNV
Germline |
Chr10:14932893 |
Conflicting classifications of pathogenicity |
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis
Condition: not provided |
Criteria Provided
Conflicting Classifications
|
CA5416702 |
rs_369844484 |
3 SubmittersRCV000912604RCV001107234RCV005231959 |
|
NM_002185.5(IL7R):c.265C>T (p.Gln89Ter)
|
SNV
Germline |
Chr5:35867349 |
Likely pathogenic |
Histiocytic medullary reticulosis
Immunodeficiency 104
Condition: not provided
IL7R-related disorder |
Reviewed By Expert Panel
|
CA3231898 |
rs_141698985 |
5 SubmittersRCV000991308RCV001869366RCV001726410RCV003898007 |
|
NM_001033855.3(DCLRE1C):c.352G>T (p.Gly118Ter)
|
SNV
Germline |
Chr10:14936548 |
Pathogenic |
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis |
Reviewed By Expert Panel
|
CA376061152 |
rs_1839957089 |
3 SubmittersRCV001057519RCV003467786 |
|
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.2275C>T (p.Arg759Cys)
|
SNV
Germline |
Chr11:36575579 |
Likely pathogenic |
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, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Combined immunodeficiency due to partial RAG1 deficiency |
Criteria Provided
Multiple Submitters
No Conflicts
|
CA5950239 |
rs_749027430 |
3 SubmittersRCV001065314RCV003473686RCV002497461 |
|
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_001033855.3(DCLRE1C):c.464+1G>A
|
SNV
Germline |
Chr10:14935462 |
Pathogenic |
Condition: not provided
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis
Colon adenocarcinoma |
Criteria Provided
Multiple Submitters
No Conflicts
|
CA376060024 |
rs_1162344514 |
4 SubmittersRCV001092477RCV001386144RCV004570319RCV005913647 |
|
NM_000448.3(RAG1):c.2146C>T (p.Arg716Trp)
|
SNV
Germline |
Chr11:36575450 |
Pathogenic/Likely 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 |
Criteria Provided
Multiple Submitters
No Conflicts
|
CA5950218 |
rs_199776076 |
5 SubmittersRCV001091953RCV002557957RCV003473710RCV005049767 |
|
NM_001033855.3(DCLRE1C):c.870C>T (p.Ser290=)
|
SNV
Germline |
Chr10:14928063 |
Conflicting classifications of pathogenicity |
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency |
Criteria Provided
Conflicting Classifications
|
CA5416657 |
rs_764386986 |
2 SubmittersRCV001107232RCV001451669 |
|
NM_001033855.3(DCLRE1C):c.726T>C (p.Leu242=)
|
SNV
Germline |
Chr10:14932908 |
Conflicting classifications of pathogenicity |
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency |
Criteria Provided
Conflicting Classifications
|
CA5416705 |
rs_778439805 |
2 SubmittersRCV001107235RCV001458321 |
|
NM_001033855.3(DCLRE1C):c.27C>T (p.Ala9=)
|
SNV
Germline |
Chr10:14953984 |
Conflicting classifications of pathogenicity |
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency |
Criteria Provided
Conflicting Classifications
|
CA5417047 |
rs_756715291 |
2 SubmittersRCV001102652RCV001446899 |
|
NM_000448.3(RAG1):c.597C>T (p.Asn199=)
|
SNV
Germline |
Chr11:36573901 |
Conflicting classifications of pathogenicity |
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
|
CA5950016 |
rs_148288583 |
2 SubmittersRCV001108565RCV001108564RCV002069771 |
|
NM_000448.3(RAG1):c.831G>A (p.Lys277=)
|
SNV
Germline |
Chr11:36574135 |
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
|
CA474031507 |
rs_1376996089 |
2 SubmittersRCV001103396RCV001103397RCV003769081 |
|
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
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas |
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_001033855.3(DCLRE1C):c.306+14A>G
|
SNV
Germline |
Chr10:14939796 |
Conflicting classifications of pathogenicity |
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency |
Criteria Provided
Conflicting Classifications
|
CA5416926 |
rs_571280873 |
2 SubmittersRCV001102649RCV002069714 |
|
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_001033855.3(DCLRE1C):c.1265C>A (p.Ser422Ter)
|
SNV
Germline |
Chr10:14909222 |
Pathogenic/Likely pathogenic |
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency |
Criteria Provided
Multiple Submitters
No Conflicts
|
CA376076429 |
rs_1354336544 |
2 SubmittersRCV003469418RCV001232221 |
|
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_001033855.3(DCLRE1C):c.1990C>T (p.Arg664Ter)
|
SNV
Germline |
Chr10:14908497 |
Conflicting classifications of pathogenicity |
Severe combined immunodeficiency due to DCLRE1C deficiency
Athabaskan severe combined immunodeficiency
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency |
Criteria Provided
Conflicting Classifications
|
CA5416354 |
rs_200693133 |
4 SubmittersRCV001241274RCV001828972RCV002499401 |
|
NM_001033855.3(DCLRE1C):c.109+1G>T
|
SNV
Germline |
Chr10:14953901 |
Pathogenic |
Severe combined immunodeficiency due to DCLRE1C deficiency
Athabaskan severe combined immunodeficiency
Histiocytic medullary reticulosis
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency |
Reviewed By Expert Panel
|
CA5417032 |
rs_143144732 |
5 SubmittersRCV001245169RCV001829948RCV003469469RCV005036528 |
|
NM_000448.3(RAG1):c.1520G>A (p.Arg507Gln)
|
SNV
Germline |
Chr11:36574824 |
Conflicting classifications of pathogenicity |
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, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas |
Criteria Provided
Conflicting Classifications
|
CA5950145 |
rs_143969029 |
3 SubmittersRCV001267786RCV005050313 |
|
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
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis |
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.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_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_000536.4(RAG2):c.442C>T (p.Arg148Ter)
|
SNV
Germline |
Chr11:36593727 |
Pathogenic |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Condition: not provided
Combined immunodeficiency with skin granulomas |
Criteria Provided
Multiple Submitters
No Conflicts
|
CA380143053 |
rs_1315729938 |
4 SubmittersRCV001386499RCV001826170RCV003394023RCV003473967 |
|
NM_001033855.3(DCLRE1C):c.456C>T (p.Ser152=)
|
SNV
Germline |
Chr10:14935471 |
Conflicting classifications of pathogenicity |
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis |
Criteria Provided
Conflicting Classifications
|
CA5416842 |
rs_140176235 |
2 SubmittersRCV001465810RCV001563934 |
|
NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter)
|
SNV
Germline |
Chr10:14934487 |
Pathogenic |
Condition: not provided
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis |
Reviewed By Expert Panel
|
CA5416778 |
rs_752655158 |
5 SubmittersRCV001780611RCV002034546RCV002506822RCV003470900 |
|
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_001033855.3(DCLRE1C):c.816T>A (p.Cys272Ter)
|
SNV
Germline |
Chr10:14928117 |
Pathogenic/Likely pathogenic |
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis |
Criteria Provided
Multiple Submitters
No Conflicts
|
CA376056037 |
rs_1346260747 |
2 SubmittersRCV001867593RCV004571458 |
|
NM_001033855.3(DCLRE1C):c.465-2A>C
|
SNV
Germline |
Chr10:14934777 |
Likely pathogenic |
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency
Thyroid cancer, nonmedullary, 1 |
Criteria Provided
Multiple Submitters
No Conflicts
|
CA376060019 |
rs_1839625956 |
4 SubmittersRCV002012801RCV003471244RCV005042657RCV005925528 |
|
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_001033855.3(DCLRE1C):c.306+2T>A
|
SNV
Germline |
Chr10:14939808 |
Likely pathogenic |
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency |
Criteria Provided
Multiple Submitters
No Conflicts
|
CA376062129 |
rs_2131026813 |
3 SubmittersRCV001998114RCV003471205RCV005042616 |
|
NM_001033855.3(DCLRE1C):c.247-2A>G
|
SNV
Germline |
Chr10:14939871 |
Likely pathogenic |
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency |
Criteria Provided
Multiple Submitters
No Conflicts
|
CA376062499 |
rs_2131027694 |
2 SubmittersRCV001963645RCV005032033 |
|
NM_000448.3(RAG1):c.256A>T (p.Lys86Ter)
|
SNV
Germline |
Chr11:36573560 |
Likely pathogenic |
Histiocytic medullary reticulosis |
Criteria Provided
Single Submitter
|
CA380146160 |
rs_2494750713 |
1 SubmittersRCV002283780 |
|
NM_000448.3(RAG1):c.540G>A (p.Trp180Ter)
|
SNV
Germline |
Chr11:36573844 |
Likely pathogenic |
Histiocytic medullary reticulosis
Combined immunodeficiency due to partial RAG1 deficiency
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
|
CA380146775 |
rs_2494752085 |
3 SubmittersRCV002283898RCV003475328RCV005042783 |
|
NM_001033855.3(DCLRE1C):c.362T>C (p.Met121Thr)
|
SNV
Germline |
Chr10:14936538 |
Conflicting classifications of pathogenicity |
Severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis |
Criteria Provided
Conflicting Classifications
|
CA5416891 |
rs_747171418 |
2 SubmittersRCV003058246RCV005034606 |
|
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_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_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.284G>A (p.Gly95Glu)
|
SNV
Germline |
Chr11:36593885 |
Conflicting classifications of pathogenicity |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
not specified
Histiocytic medullary reticulosis |
Criteria Provided
Conflicting Classifications
|
CA380143798 |
rs_2494798051 |
3 SubmittersRCV002958786RCV006262579RCV005608814 |
|
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_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_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
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas |
Criteria Provided
Multiple Submitters
No Conflicts
|
CA380142890 |
rs_756694972 |
3 SubmittersRCV003471783RCV003779087RCV005047613 |
|
NM_001033855.3(DCLRE1C):c.1324C>T (p.Gln442Ter)
|
SNV
Unknown |
Chr10:14909163 |
Likely pathogenic |
Histiocytic medullary reticulosis |
Criteria Provided
Single Submitter
|
CA376076031 |
rs_2491633975 |
1 SubmittersRCV003459953 |
|
NM_001033855.3(DCLRE1C):c.416T>A (p.Leu139Ter)
|
SNV
Unknown |
Chr10:14935511 |
Likely pathogenic |
Histiocytic medullary reticulosis |
Criteria Provided
Single Submitter
|
CA376060124 |
rs_2492040094 |
1 SubmittersRCV003466116 |
|
NM_001033855.3(DCLRE1C):c.676C>T (p.Gln226Ter)
|
SNV
Unknown |
Chr10:14934382 |
Likely pathogenic |
Histiocytic medullary reticulosis |
Criteria Provided
Single Submitter
|
CA376059354 |
rs_1564438804 |
1 SubmittersRCV003466118 |
|
NM_001033855.3(DCLRE1C):c.464+2T>C
|
SNV
Unknown |
Chr10:14935461 |
Likely pathogenic |
Histiocytic medullary reticulosis |
Criteria Provided
Single Submitter
|
CA376060021 |
rs_2492038028 |
1 SubmittersRCV003466120 |
|
NM_001033855.3(DCLRE1C):c.1777C>T (p.Gln593Ter)
|
SNV
Unknown |
Chr10:14908710 |
Likely pathogenic |
Histiocytic medullary reticulosis |
Criteria Provided
Single Submitter
|
CA376074631 |
rs_1250826419 |
1 SubmittersRCV003459955 |
|
NM_001033855.3(DCLRE1C):c.678+1G>A
|
SNV
Unknown |
Chr10:14934379 |
Likely pathogenic |
Histiocytic medullary reticulosis |
Criteria Provided
Single Submitter
|
CA376059348 |
rs_2492023846 |
1 SubmittersRCV003466130 |
|
NM_001033855.3(DCLRE1C):c.246+2T>G
|
SNV
Unknown |
Chr10:14945103 |
Likely pathogenic |
Histiocytic medullary reticulosis |
Criteria Provided
Single Submitter
|
CA376063108 |
rs_2492298473 |
1 SubmittersRCV003466132 |
|
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_001033855.3(DCLRE1C):c.678+2T>G
|
SNV
Germline |
Chr10:14934378 |
Likely pathogenic |
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis |
Criteria Provided
Multiple Submitters
No Conflicts
|
CA376059345 |
rs_1215422400 |
2 SubmittersRCV003856886RCV004573367 |
|
NM_001033855.3(DCLRE1C):c.1085C>N (p.Ser362Xaa)
|
SNV
Germline |
Chr10:14919809 |
Likely pathogenic |
Histiocytic medullary reticulosis |
Criteria Provided
Single Submitter
|
|
rs_755182961 |
1 SubmittersRCV003983751 |
|
NM_001033855.3(DCLRE1C):c.1774G>T (p.Glu592Ter)
|
SNV
Unknown |
Chr10:14908713 |
Likely pathogenic |
Histiocytic medullary reticulosis |
Criteria Provided
Single Submitter
|
|
rs_2491621783 |
1 SubmittersRCV004575765 |
|
NM_001033855.3(DCLRE1C):c.1513G>T (p.Glu505Ter)
|
SNV
Unknown |
Chr10:14908974 |
Likely pathogenic |
Histiocytic medullary reticulosis |
Criteria Provided
Single Submitter
|
|
rs_2491629802 |
1 SubmittersRCV004575771 |
|
NM_001033855.3(DCLRE1C):c.306+1G>A
|
SNV
Unknown |
Chr10:14939809 |
Likely pathogenic |
Histiocytic medullary reticulosis |
Criteria Provided
Single Submitter
|
|
rs_2492173028 |
1 SubmittersRCV004575772 |
|
NM_001033855.3(DCLRE1C):c.973-1G>A
|
SNV
Unknown |
Chr10:14923070 |
Likely pathogenic |
Histiocytic medullary reticulosis |
Criteria Provided
Single Submitter
|
|
rs_2491846909 |
1 SubmittersRCV004575773 |
|
NM_001033855.3(DCLRE1C):c.879G>A (p.Trp293Ter)
|
SNV
Unknown |
Chr10:14928054 |
Pathogenic |
Histiocytic medullary reticulosis |
Criteria Provided
Single Submitter
|
|
rs_2491946964 |
1 SubmittersRCV004575775 |
|
NM_001033855.3(DCLRE1C):c.538-1G>A
|
SNV
Unknown |
Chr10:14934521 |
Likely pathogenic |
Histiocytic medullary reticulosis |
Criteria Provided
Single Submitter
|
|
rs_2492025655 |
1 SubmittersRCV004575777 |
|
NM_001033855.3(DCLRE1C):c.1156+1G>A
|
SNV
Unknown |
Chr10:14919737 |
Likely pathogenic |
Histiocytic medullary reticulosis |
Criteria Provided
Single Submitter
|
|
rs_2491772724 |
1 SubmittersRCV004575778 |
|
NM_001033855.3(DCLRE1C):c.679-1G>A
|
SNV
Germline |
Chr10:14932956 |
Likely pathogenic |
Histiocytic medullary reticulosis |
Criteria Provided
Single Submitter
|
|
rs_2130918080 |
1 SubmittersRCV004577290 |
|
NM_000448.3(RAG1):c.1208C>T (p.Thr403Ile)
|
SNV
Germline |
Chr11:36574512 |
Conflicting classifications of pathogenicity |
not specified
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
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas |
Criteria Provided
Conflicting Classifications
|
|
rs_2494754990 |
3 SubmittersRCV004586168RCV005040707RCV005216265 |
|
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_000536.4(RAG2):c.1442A>T (p.His481Leu)
|
SNV
Germline |
Chr11:36592727 |
Conflicting classifications of pathogenicity |
not specified
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis |
Criteria Provided
Conflicting Classifications
|
|
|
2 SubmittersRCV004689536RCV005040752 |
|
NM_000448.3(RAG1):c.2263G>T (p.Glu755Ter)
|
SNV
Germline |
Chr11:36575567 |
Likely pathogenic |
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
Single Submitter
|
|
|
1 SubmittersRCV005046750 |
|
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 |
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
|
|
|
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 |
Criteria Provided
Single Submitter
|
|
|
1 SubmittersRCV005050116 |
|
NM_001033855.3(DCLRE1C):c.368T>A (p.Leu123Ter)
|
SNV
Germline |
Chr10:14935559 |
Likely pathogenic |
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency |
Criteria Provided
Single Submitter
|
|
|
1 SubmittersRCV005033148 |
|
NM_001033855.3(DCLRE1C):c.329T>G (p.Leu110Arg)
|
SNV
Germline |
Chr10:14936571 |
Likely pathogenic |
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency |
Criteria Provided
Single Submitter
|
|
|
1 SubmittersRCV005043088 |
|
NM_000536.4(RAG2):c.284G>T (p.Gly95Val)
|
SNV
Germline |
Chr11:36593885 |
Likely pathogenic |
Histiocytic medullary reticulosis |
No Assertion Criteria Provided
|
|
|
1 SubmittersRCV005607819 |
|
NM_001033855.3(DCLRE1C):c.1357G>T (p.Glu453Ter)
|
SNV
Germline |
Chr10:14909130 |
Likely pathogenic |
Histiocytic medullary reticulosis |
Criteria Provided
Single Submitter
|
|
|
1 SubmittersRCV005882591 |
|
NM_001033855.3(DCLRE1C):c.377G>A (p.Gly126Asp)
|
SNV
Germline |
Chr10:14935550 |
Likely pathogenic |
Histiocytic medullary reticulosis |
Criteria Provided
Single Submitter
|
|
|
1 SubmittersRCV006261901 |