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Items: 1 to 100 of 925

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr5:134229293
GRCh38:
Chr5:134893603
TXNDC15R167W, R235WSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(May 8, 2023)		criteria provided, single submitter
2.
GRCh37:
Chr11:36595341
GRCh38:
Chr11:36573791
RAG1V163LSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, Combined immunodeficiency with skin granulomasUncertain significance
(May 15, 2022)		criteria provided, single submitter
3.
GRCh37:
Chr11:36614275
GRCh38:
Chr11:36592725
RAG2V482MCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Jul 15, 2022)		criteria provided, single submitter
4.
GRCh37:
Chr11:36597743
GRCh38:
Chr11:36576193
RAG1Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(Sep 2, 2022)		criteria provided, single submitter
5.
GRCh37:
Chr11:36597199
GRCh38:
Chr11:36575649
RAG1V782DCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely pathogenic
(Aug 1, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr11:36614788
GRCh38:
Chr11:36593238
RAG2I311VCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Sep 2, 2021)		criteria provided, single submitter
7.
GRCh37:
Chr11:36596843
GRCh38:
Chr11:36575293
RAG1Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, Combined immunodeficiency with skin granulomasLikely benign
(Apr 15, 2022)		criteria provided, single submitter
8.
GRCh37:
Chr11:36614803
GRCh38:
Chr11:36593253
RAG2D306YSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, Combined immunodeficiency with skin granulomasUncertain significance
(Aug 1, 2022)		criteria provided, single submitter
9.
GRCh37:
Chr11:36596720
GRCh38:
Chr11:36575170
RAG1Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(Sep 23, 2022)		criteria provided, single submitter
10.
GRCh37:
Chr11:36615077
GRCh38:
Chr11:36593527
RAG2Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(Oct 8, 2022)		criteria provided, single submitter
11.
GRCh37:
Chr11:36615449
GRCh38:
Chr11:36593899
RAG2Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(Sep 13, 2022)		criteria provided, single submitter
12.
GRCh37:
Chr11:36595320
GRCh38:
Chr11:36573770
RAG1A156TCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Jul 22, 2022)		criteria provided, single submitter
13.
GRCh37:
Chr11:36615698
GRCh38:
Chr11:36594148
RAG2Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(May 18, 2022)		criteria provided, single submitter
14.
GRCh37:
Chr11:36597975
GRCh38:
Chr11:36576425
RAG1M1041VSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, Combined immunodeficiency with skin granulomasUncertain significance
(Jun 4, 2022)		criteria provided, single submitter
15.
GRCh37:
Chr11:36615539
GRCh38:
Chr11:36593989
RAG2Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(May 12, 2022)		criteria provided, single submitter
16.
GRCh37:
Chr11:36595138
GRCh38:
Chr11:36573588
RAG1E95GCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Jun 5, 2022)		criteria provided, single submitter
17.
GRCh37:
Chr11:36595106
GRCh38:
Chr11:36573556
RAG1Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(Oct 31, 2022)		criteria provided, single submitter
18.
GRCh37:
Chr11:36595971
GRCh38:
Chr11:36574421
RAG1N373DSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, Combined immunodeficiency with skin granulomasUncertain significance
(Jul 15, 2022)		criteria provided, single submitter
19.
GRCh37:
Chr11:36595630
GRCh38:
Chr11:36574080
RAG1S259ISevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, Combined immunodeficiency with skin granulomasUncertain significance
(Sep 13, 2022)		criteria provided, single submitter
20.
GRCh37:
Chr11:36615427
GRCh38:
Chr11:36593877
RAG2T98ACombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Jul 13, 2022)		criteria provided, single submitter
21.
GRCh37:
Chr11:36595795
GRCh38:
Chr11:36574245
RAG1R314QCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Jun 14, 2022)		criteria provided, single submitter
22.
GRCh37:
Chr11:36615417
GRCh38:
Chr11:36593867
RAG2N101SInborn genetic diseases, Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Conflicting interpretations of pathogenicity
(Aug 20, 2022)		criteria provided, conflicting interpretations
23.
GRCh37:
Chr11:36595694
GRCh38:
Chr11:36574144
RAG1Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(May 20, 2022)		criteria provided, single submitter
24.
GRCh37:
Chr11:36615187
GRCh38:
Chr11:36593637
RAG2C178RCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Jan 1, 2022)		criteria provided, single submitter
25.
GRCh37:
Chr11:36596355
GRCh38:
Chr11:36574805
RAG1Q501*Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positivePathogenic
(Apr 25, 2022)		criteria provided, single submitter
26.
GRCh37:
Chr11:36595901
GRCh38:
Chr11:36574351
RAG1Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(Aug 3, 2022)		criteria provided, single submitter
27.
GRCh37:
Chr11:36596874
GRCh38:
Chr11:36575324
RAG1I674VCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Apr 26, 2022)		criteria provided, single submitter
28.
GRCh37:
Chr11:36595472
GRCh38:
Chr11:36573922
RAG1Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(Dec 25, 2021)		criteria provided, single submitter
29.
GRCh37:
Chr11:36615233
GRCh38:
Chr11:36593683
RAG2M162ICombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Aug 20, 2022)		criteria provided, single submitter
30.
GRCh37:
Chr11:36596835
GRCh38:
Chr11:36575285
RAG1M661VCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Apr 9, 2022)		criteria provided, single submitter
31.
GRCh37:
Chr11:36615563
GRCh38:
Chr11:36594013
RAG2H52QCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Apr 19, 2022)		criteria provided, single submitter
32.
GRCh37:
Chr11:36595657
GRCh38:
Chr11:36574107
RAG1N268TSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, Combined immunodeficiency with skin granulomasUncertain significance
(Feb 8, 2022)		criteria provided, single submitter
33.
GRCh37:
Chr11:36614805
GRCh38:
Chr11:36593255
RAG2P305LCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(May 21, 2022)		criteria provided, single submitter
34.
GRCh37:
Chr11:36614643
GRCh38:
Chr11:36593093
RAG2Q359RCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Oct 20, 2021)		criteria provided, single submitter
35.
GRCh37:
Chr11:36615392
GRCh38:
Chr11:36593842
RAG2Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, Combined immunodeficiency with skin granulomasLikely benign
(Oct 2, 2022)		criteria provided, single submitter
36.
GRCh37:
Chr11:36615246
GRCh38:
Chr11:36593696
RAG2G158VCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Sep 13, 2022)		criteria provided, single submitter
37.
GRCh37:
Chr11:36615558
GRCh38:
Chr11:36594008
RAG2H54RCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(May 20, 2022)		criteria provided, single submitter
38.
GRCh37:
Chr11:36597803
GRCh38:
Chr11:36576253
RAG1Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(Jul 1, 2022)		criteria provided, single submitter
39.
GRCh37:
Chr11:36597875
GRCh38:
Chr11:36576325
RAG1N1007KCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(Sep 2, 2022)		criteria provided, single submitter
40.
GRCh37:
Chr11:36615578-36615579
GRCh38:
Chr11:36594028-36594029
RAG2H47LCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(May 3, 2022)		criteria provided, single submitter
41.
GRCh37:
Chr11:36615343
GRCh38:
Chr11:36593793
RAG2E126QCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Aug 7, 2022)		criteria provided, single submitter
42.
GRCh37:
Chr11:36615624
GRCh38:
Chr11:36594074
RAG2G32ECombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positivePathogenic
(Mar 16, 2022)		criteria provided, single submitter
43.
GRCh37:
Chr11:36597376
GRCh38:
Chr11:36575826
RAG1R841QCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, not provided,
Severe combined immunodeficiency disease		Pathogenic/Likely pathogenic
(Jun 2, 2023)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr11:36596950
GRCh38:
Chr11:36575400
RAG1R699QCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely pathogenic
(Feb 23, 2022)		criteria provided, single submitter
45.
GRCh37:
Chr11:36596000-36596001
GRCh38:
Chr11:36574450-36574451
RAG1K383fsCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positivePathogenic
(Feb 12, 2022)		criteria provided, single submitter
46.
GRCh37:
Chr11:36595824
GRCh38:
Chr11:36574274
RAG1M324VCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Jul 3, 2022)		criteria provided, single submitter
47.
GRCh37:
Chr11:36615206
GRCh38:
Chr11:36593656
RAG2Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(May 5, 2022)		criteria provided, single submitter
48.
GRCh37:
Chr11:36597925
GRCh38:
Chr11:36576375
RAG1S1024NSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, Combined immunodeficiency with skin granulomasUncertain significance
(Apr 30, 2022)		criteria provided, single submitter
49.
GRCh37:
Chr11:36595503
GRCh38:
Chr11:36573953
RAG1A217TSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, Combined immunodeficiency with skin granulomasUncertain significance
(Apr 30, 2022)		criteria provided, single submitter
50.
GRCh37:
Chr11:36614411
GRCh38:
Chr11:36592861
RAG2Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(Apr 28, 2022)		criteria provided, single submitter
51.
GRCh37:
Chr11:36596388
GRCh38:
Chr11:36574838
RAG1V512ICombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Aug 16, 2022)		criteria provided, single submitter
52.
GRCh37:
Chr11:36615047
GRCh38:
Chr11:36593497
RAG2Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(Apr 22, 2022)		criteria provided, single submitter
53.
GRCh37:
Chr11:36614947
GRCh38:
Chr11:36593397
RAG2V258ICombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Sep 27, 2022)		criteria provided, single submitter
54.
GRCh37:
Chr11:36595688
GRCh38:
Chr11:36574138
RAG1Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(Apr 18, 2022)		criteria provided, single submitter
55.
GRCh37:
Chr11:36597539
GRCh38:
Chr11:36575989
RAG1Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(Apr 13, 2022)		criteria provided, single submitter
56.
GRCh37:
Chr11:36614960
GRCh38:
Chr11:36593410
RAG2Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(Apr 9, 2022)		criteria provided, single submitter
57.
GRCh37:
Chr11:36596151
GRCh38:
Chr11:36574601
RAG1V433fsCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positivePathogenic
(Mar 27, 2022)		criteria provided, single submitter
58.
GRCh37:
Chr11:36597952
GRCh38:
Chr11:36576402
RAG1D1033GCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Mar 24, 2022)		criteria provided, single submitter
59.
GRCh37:
Chr11:36596189
GRCh38:
Chr11:36574639
RAG1Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(May 25, 2022)		criteria provided, single submitter
60.
GRCh37:
Chr11:36615048
GRCh38:
Chr11:36593498
RAG2L224RCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Oct 4, 2022)		criteria provided, single submitter
61.
GRCh37:
Chr11:36595028
GRCh38:
Chr11:36573478
RAG1Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(Mar 29, 2022)		criteria provided, single submitter
62.
GRCh37:
Chr11:36597481
GRCh38:
Chr11:36575931
RAG1E876fsCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positivePathogenic
(Mar 17, 2022)		criteria provided, single submitter
63.
GRCh37:
Chr11:36595118
GRCh38:
Chr11:36573568
RAG1Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(Mar 13, 2022)		criteria provided, single submitter
64.
GRCh37:
Chr11:36596467
GRCh38:
Chr11:36574917
RAG1I538TCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Aug 22, 2022)		criteria provided, single submitter
65.
GRCh37:
Chr11:36615209
GRCh38:
Chr11:36593659
RAG2Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(Mar 12, 2022)		criteria provided, single submitter
66.
GRCh37:
Chr11:36597901
GRCh38:
Chr11:36576351
RAG1G1016ESevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, Combined immunodeficiency with skin granulomasUncertain significance
(May 21, 2022)		criteria provided, single submitter
67.
GRCh37:
Chr11:36615659
GRCh38:
Chr11:36594109
RAG2Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(Mar 20, 2022)		criteria provided, single submitter
68.
GRCh37:
Chr11:36597758
GRCh38:
Chr11:36576208
RAG1Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(Apr 16, 2022)		criteria provided, single submitter
69.
GRCh37:
Chr11:36595205
GRCh38:
Chr11:36573655
RAG1F118fsSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, Combined immunodeficiency with skin granulomasPathogenic
(Mar 10, 2022)		criteria provided, single submitter
70.
GRCh37:
Chr11:36614450
GRCh38:
Chr11:36592900
RAG2Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(Mar 9, 2022)		criteria provided, single submitter
71.
GRCh37:
Chr11:36596824
GRCh38:
Chr11:36575274
RAG1P657LCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(May 10, 2022)		criteria provided, single submitter
72.
GRCh37:
Chr11:36595800
GRCh38:
Chr11:36574250
RAG1C316SCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Mar 19, 2022)		criteria provided, single submitter
73.
GRCh37:
Chr11:36615600
GRCh38:
Chr11:36594050
RAG2S40FCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Mar 4, 2022)		criteria provided, single submitter
74.
GRCh37:
Chr11:36596622
GRCh38:
Chr11:36575072
RAG1Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(Mar 4, 2022)		criteria provided, single submitter
75.
GRCh37:
Chr11:36596858
GRCh38:
Chr11:36575308
RAG1H668QCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Mar 4, 2022)		criteria provided, single submitter
76.
GRCh37:
Chr11:36614721
GRCh38:
Chr11:36593171
RAG2G333ECombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Feb 25, 2022)		criteria provided, single submitter
77.
GRCh37:
Chr11:36597515
GRCh38:
Chr11:36575965
RAG1Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(Aug 28, 2022)		criteria provided, single submitter
78.
GRCh37:
Chr11:36615502
GRCh38:
Chr11:36593952
RAG2R73GSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, Combined immunodeficiency with skin granulomasLikely pathogenic
(Aug 4, 2022)		criteria provided, single submitter
79.
GRCh37:
Chr11:36594871
GRCh38:
Chr11:36573321
RAG1P6LSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, Combined immunodeficiency with skin granulomasUncertain significance
(Feb 18, 2022)		criteria provided, single submitter
80.
GRCh37:
Chr11:36596877
GRCh38:
Chr11:36575327
RAG1L675VSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, Combined immunodeficiency with skin granulomasUncertain significance
(Mar 15, 2022)		criteria provided, single submitter
81.
GRCh37:
Chr11:36596219
GRCh38:
Chr11:36574669
RAG1A456fsCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positivePathogenic
(Feb 10, 2022)		criteria provided, single submitter
82.
GRCh37:
Chr11:36595736
GRCh38:
Chr11:36574186
RAG1Q294HCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Feb 7, 2022)		criteria provided, single submitter
83.
GRCh37:
Chr11:36615529-36615530
GRCh38:
Chr11:36593979-36593980
RAG2K64*Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positivePathogenic
(Feb 8, 2022)		criteria provided, single submitter
84.
GRCh37:
Chr11:36595504
GRCh38:
Chr11:36573954
RAG1A217DCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Jun 22, 2022)		criteria provided, single submitter
85.
GRCh37:
Chr11:36595151
GRCh38:
Chr11:36573601
RAG1Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(Mar 15, 2022)		criteria provided, single submitter
86.
GRCh37:
Chr11:36597317
GRCh38:
Chr11:36575767
RAG1Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(Jan 26, 2022)		criteria provided, single submitter
87.
GRCh37:
Chr11:36614953
GRCh38:
Chr11:36593403
RAG2I256LCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Jan 19, 2022)		criteria provided, single submitter
88.
GRCh37:
Chr11:36615566
GRCh38:
Chr11:36594016
RAG2Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely benign
(Jan 18, 2022)		criteria provided, single submitter
89.
GRCh37:
Chr11:36615416
GRCh38:
Chr11:36593866
RAG2N101KCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveLikely pathogenic
(Jan 17, 2022)		criteria provided, single submitter
90.
GRCh37:
Chr11:36615258
GRCh38:
Chr11:36593708
RAG2V154ACombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Jan 26, 2022)		criteria provided, single submitter
91.
GRCh37:
Chr11:36595723
GRCh38:
Chr11:36574173
RAG1S290FCombined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveUncertain significance
(Jan 16, 2022)		criteria provided, single submitter
92.
GRCh37:
Chr11:36595353
GRCh38:
Chr11:36573803
RAG1V167ISevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, Combined immunodeficiency with skin granulomasUncertain significance
(Jul 6, 2022)		criteria provided, single submitter
93.
GRCh37:
Chr11:36594940
GRCh38:
Chr11:36573390
RAG1K29RSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, Combined immunodeficiency with skin granulomasUncertain significance
(Jul 25, 2022)		criteria provided, single submitter
94.
GRCh37:
Chr11:36614997
GRCh38:
Chr11:36593447
RAG2P241LSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, Combined immunodeficiency with skin granulomasUncertain significance
(Jan 25, 2022)		criteria provided, single submitter
95.
GRCh37:
Chr11:36614373
GRCh38:
Chr11:36592823
RAG2G449ASevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, Combined immunodeficiency with skin granulomasUncertain significance
(Aug 31, 2022)		criteria provided, single submitter
96.
GRCh37:
Chr11:36596413
GRCh38:
Chr11:36574863
RAG1F520YSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, Combined immunodeficiency with skin granulomasUncertain significance
(Jan 3, 2022)		criteria provided, single submitter
97.
GRCh37:
Chr11:36614244
GRCh38:
Chr11:36592694
RAG2Q492RSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, Combined immunodeficiency with skin granulomasUncertain significance
(Jan 3, 2022)		criteria provided, single submitter
98.
GRCh37:
Chr11:36614574
GRCh38:
Chr11:36593024
RAG2E382GSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, Combined immunodeficiency with skin granulomasUncertain significance
(Dec 18, 2021)		criteria provided, single submitter
99.
GRCh37:
Chr11:36615435
GRCh38:
Chr11:36593885
RAG2G95ESevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, Combined immunodeficiency with skin granulomasLikely pathogenic
(Jan 1, 2022)		criteria provided, single submitter
100.
GRCh37:
Chr11:36596710
GRCh38:
Chr11:36575160
RAG1P619Lnot specified, Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Conflicting interpretations of pathogenicity
(May 1, 2023)		criteria provided, conflicting interpretations
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