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Links from MedGen

Items: 1 to 100 of 487

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr10:104159364-104159365
GRCh38:
Chr10:102399607-102399608
NFKB2Q413fs, Q455fsImmunodeficiency, common variable, 10Likely pathogenic
(Mar 30, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr10:104162028
GRCh38:
Chr10:102402271
NFKB2Immunodeficiency, common variable, 10Uncertain significance
(Aug 5, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr10:104160046
GRCh38:
Chr10:102400289
NFKB2Immunodeficiency, common variable, 10Likely benign
(Feb 27, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr10:104160503
GRCh38:
Chr10:102400746
NFKB2Immunodeficiency, common variable, 10Likely benign
(Mar 19, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr10:104156656
GRCh38:
Chr10:102396899
NFKB2Immunodeficiency, common variable, 10Likely benign
(Sep 27, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr10:104161909
GRCh38:
Chr10:102402152
NFKB2Immunodeficiency, common variable, 10Likely benign
(Apr 4, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr10:104157346
GRCh38:
Chr10:102397589
NFKB2I189VImmunodeficiency, common variable, 10Uncertain significance
(Feb 28, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr10:104161247
GRCh38:
Chr10:102401490
NFKB2Immunodeficiency, common variable, 10Likely benign
(Jun 10, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr10:104156827
GRCh38:
Chr10:102397070
NFKB2Immunodeficiency, common variable, 10Likely benign
(Jun 15, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr10:104159386
GRCh38:
Chr10:102399629
NFKB2Immunodeficiency, common variable, 10Likely benign
(Sep 1, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr10:104159354
GRCh38:
Chr10:102399597
NFKB2Immunodeficiency, common variable, 10Likely benign
(Oct 16, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr10:104159323
GRCh38:
Chr10:102399566
NFKB2Immunodeficiency, common variable, 10Likely benign
(Aug 14, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr10:104160815
GRCh38:
Chr10:102401058
NFKB2Immunodeficiency, common variable, 10Likely benign
(Jun 14, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr10:104160530
GRCh38:
Chr10:102400773
NFKB2Immunodeficiency, common variable, 10Likely benign
(Sep 6, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr10:104158531
GRCh38:
Chr10:102398774
NFKB2Immunodeficiency, common variable, 10Likely benign
(Dec 5, 2019)
criteria provided, single submitter
16.
GRCh37:
Chr10:104158073
GRCh38:
Chr10:102398316
NFKB2Immunodeficiency, common variable, 10Likely benign
(Dec 19, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr10:104156036
GRCh38:
Chr10:102396279
NFKB2D16EImmunodeficiency, common variable, 10Uncertain significance
(Sep 6, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr10:104161108
GRCh38:
Chr10:102401351
NFKB2Immunodeficiency, common variable, 10Likely benign
(Jul 17, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr10:104159216
GRCh38:
Chr10:102399459
NFKB2P388L, P430LImmunodeficiency, common variable, 10Uncertain significance
(Jun 8, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr10:104161060
GRCh38:
Chr10:102401303
NFKB2T690M, T732MImmunodeficiency, common variable, 10Uncertain significance
(Sep 7, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr10:104157955
GRCh38:
Chr10:102398198
NFKB2Immunodeficiency, common variable, 10Likely benign
(Sep 27, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr10:104160093
GRCh38:
Chr10:102400336
NFKB2R548P, R506PImmunodeficiency, common variable, 10Uncertain significance
(Oct 13, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr10:104159212
GRCh38:
Chr10:102399455
NFKB2T387A, T429AImmunodeficiency, common variable, 10Uncertain significance
(Jun 12, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr10:104158074
GRCh38:
Chr10:102398317
NFKB2Immunodeficiency, common variable, 10Likely benign
(May 29, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr10:104158596
GRCh38:
Chr10:102398839
NFKB2Immunodeficiency, common variable, 10Likely benign
(Mar 11, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr10:104160593
GRCh38:
Chr10:102400836
NFKB2Immunodeficiency, common variable, 10Likely benign
(Jun 17, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr10:104160721
GRCh38:
Chr10:102400964
NFKB2Immunodeficiency, common variable, 10Likely benign
(Sep 13, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr10:104160722
GRCh38:
Chr10:102400965
NFKB2A621S, A663SImmunodeficiency, common variable, 10Uncertain significance
(Jun 9, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr10:104161540
GRCh38:
Chr10:102401783
NFKB2L736M, L778MImmunodeficiency, common variable, 10Uncertain significance
(Aug 20, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr10:104160693
GRCh38:
Chr10:102400936
NFKB2Immunodeficiency, common variable, 10Likely benign
(May 25, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr10:104159962
GRCh38:
Chr10:102400205
NFKB2Immunodeficiency, common variable, 10Benign
(Jun 18, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr10:104156216
GRCh38:
Chr10:102396459
NFKB2Immunodeficiency, common variable, 10Likely benign
(Apr 26, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr10:104161486
GRCh38:
Chr10:102401729
NFKB2Immunodeficiency, common variable, 10Uncertain significance
(Aug 18, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr10:104159405
GRCh38:
Chr10:102399648
NFKB2T425A, T467AImmunodeficiency, common variable, 10Uncertain significance
(Sep 17, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr10:104156724
GRCh38:
Chr10:102396967
NFKB2R103CImmunodeficiency, common variable, 10Uncertain significance
(May 20, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr10:104159971
GRCh38:
Chr10:102400214
NFKB2Immunodeficiency, common variable, 10Likely benign
(Apr 12, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr10:104161918-104161920
GRCh38:
Chr10:102402161-102402163
NFKB2Immunodeficiency, common variable, 10Uncertain significance
(Mar 20, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr10:104158067
GRCh38:
Chr10:102398310
NFKB2Immunodeficiency, common variable, 10Likely benign
(Apr 4, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr10:104158066
GRCh38:
Chr10:102398309
NFKB2Immunodeficiency, common variable, 10Likely benign
(Apr 4, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr10:104159123
GRCh38:
Chr10:102399366
NFKB2P357L, P399LImmunodeficiency, common variable, 10Uncertain significance
(Jun 13, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr10:104161814
GRCh38:
Chr10:102402057
NFKB2G784R, G826RImmunodeficiency, common variable, 10Uncertain significance
(Mar 20, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr10:104159252
GRCh38:
Chr10:102399495
NFKB2R442Q, R400QImmunodeficiency, common variable, 10Uncertain significance
(Sep 10, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr10:104162026
GRCh38:
Chr10:102402269
NFKB2S824G, S865G, S866GImmunodeficiency, common variable, 10Uncertain significance
(Mar 18, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr10:104158614
GRCh38:
Chr10:102398857
NFKB2Immunodeficiency, common variable, 10Likely benign
(Aug 23, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr10:104161884
GRCh38:
Chr10:102402127
NFKB2G807V, G849VImmunodeficiency, common variable, 10Uncertain significance
(Mar 12, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr10:104160821
GRCh38:
Chr10:102401064
NFKB2Immunodeficiency, common variable, 10Likely benign
(Aug 12, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr10:104155992
GRCh38:
Chr10:102396235
NFKB2Immunodeficiency, common variable, 10Likely benign
(Feb 8, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr10:104160788
GRCh38:
Chr10:102401031
NFKB2R685G, R643GImmunodeficiency, common variable, 10Uncertain significance
(Jan 18, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr10:104157426
GRCh38:
Chr10:102397669
NFKB2Immunodeficiency, common variable, 10Likely benign
(Oct 26, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr10:104159235
GRCh38:
Chr10:102399478
NFKB2Immunodeficiency, common variable, 10Likely benign
(Apr 9, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr10:104162107
GRCh38:
Chr10:102402350
NFKB2G893R, G892R, G851RImmunodeficiency, common variable, 10Uncertain significance
(Sep 16, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr10:104160917
GRCh38:
Chr10:102401160
NFKB2Immunodeficiency, common variable, 10Likely benign
(Jul 20, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr10:104159319-104159320
GRCh38:
Chr10:102399562-102399563
NFKB2Immunodeficiency, common variable, 10Likely benign
(Jan 26, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr10:104159363
GRCh38:
Chr10:102399606
NFKB2Immunodeficiency, common variable, 10Likely benign
(Nov 12, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr10:104162065
GRCh38:
Chr10:102402308
NFKB2K837Q, K878Q, K879QImmunodeficiency, common variable, 10Uncertain significance
(Dec 30, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr10:104159214
GRCh38:
Chr10:102399457
NFKB2Immunodeficiency, common variable, 10Likely benign
(Sep 14, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr10:104159230
GRCh38:
Chr10:102399473
NFKB2Q393K, Q435KImmunodeficiency, common variable, 10Uncertain significance
(Mar 11, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr10:104161598
GRCh38:
Chr10:102401841
NFKB2R755H, R797HImmunodeficiency, common variable, 10Uncertain significance
(Jan 15, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr10:104159351
GRCh38:
Chr10:102399594
NFKB2R407G, R449GImmunodeficiency, common variable, 10Uncertain significance
(Dec 22, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr10:104156732
GRCh38:
Chr10:102396975
NFKB2Immunodeficiency, common variable, 10Likely benign
(Sep 5, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr10:104158286
GRCh38:
Chr10:102398529
NFKB2Immunodeficiency, common variable, 10Uncertain significance
(Sep 2, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr10:104161577
GRCh38:
Chr10:102401820
NFKB2S748T, S790TImmunodeficiency, common variable, 10Uncertain significance
(Dec 15, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr10:104161848
GRCh38:
Chr10:102402091
NFKB2D837V, D795VImmunodeficiency, common variable, 10Uncertain significance
(Mar 4, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr10:104157724
GRCh38:
Chr10:102397967
LOC121815964, NFKB2Immunodeficiency, common variable, 10Likely benign
(Oct 17, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr10:104160217
GRCh38:
Chr10:102400460
NFKB2Immunodeficiency, common variable, 10Likely benign
(Sep 17, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr10:104159265
GRCh38:
Chr10:102399508
NFKB2Immunodeficiency, common variable, 10Likely benign
(Sep 12, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr10:104157963
GRCh38:
Chr10:102398206
NFKB2Immunodeficiency, common variable, 10Likely benign
(Aug 9, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr10:104156586
GRCh38:
Chr10:102396829
NFKB2Immunodeficiency, common variable, 10Uncertain significance
(Jul 14, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr10:104161895-104161896
GRCh38:
Chr10:102402138-102402139
NFKB2D812fs, D854fsImmunodeficiency, common variable, 10Uncertain significance
(Sep 7, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr10:104160984
GRCh38:
Chr10:102401227
NFKB2S665T, S707TImmunodeficiency, common variable, 10Uncertain significance
(Jun 22, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr10:104157269
GRCh38:
Chr10:102397512
NFKB2Immunodeficiency, common variable, 10Likely benign
(Jun 15, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr10:104160122
GRCh38:
Chr10:102400365
NFKB2R516W, R558WImmunodeficiency, common variable, 10Uncertain significance
(Aug 20, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr10:104162082
GRCh38:
Chr10:102402325
NFKB2Immunodeficiency, common variable, 10Likely benign
(Oct 17, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr10:104159380
GRCh38:
Chr10:102399623
NFKB2Immunodeficiency, common variable, 10Likely benign
(Sep 16, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr10:104159233
GRCh38:
Chr10:102399476
NFKB2A394T, A436TImmunodeficiency, common variable, 10Uncertain significance
(Jun 13, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr10:104161103
GRCh38:
Chr10:102401346
NFKB2Immunodeficiency, common variable, 10Likely benign
(Jun 7, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr10:104160470
GRCh38:
Chr10:102400713
NFKB2Immunodeficiency, common variable, 10Likely benign
(Jun 1, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr10:104157176
GRCh38:
Chr10:102397419
NFKB2Immunodeficiency, common variable, 10Likely benign
(May 30, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr10:104161014
GRCh38:
Chr10:102401257
NFKB2S675P, S717PImmunodeficiency, common variable, 10Uncertain significance
(May 27, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr10:104157793-104157794
GRCh38:
Chr10:102398036-102398037
LOC121815964, NFKB2V240fsImmunodeficiency, common variable, 10Uncertain significance
(May 19, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr10:104160723
GRCh38:
Chr10:102400966
NFKB2A621V, A663VImmunodeficiency, common variable, 10Uncertain significance
(May 12, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr10:104160729
GRCh38:
Chr10:102400972
NFKB2T665N, T623NImmunodeficiency, common variable, 10Uncertain significance
(Jun 27, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr10:104159321
GRCh38:
Chr10:102399564
NFKB2Immunodeficiency, common variable, 10Likely benign
(Dec 26, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr10:104156015
GRCh38:
Chr10:102396258
NFKB2Immunodeficiency, common variable, 10Uncertain significance
(Oct 17, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr10:104160131
GRCh38:
Chr10:102400374
NFKB2D519N, D561NImmunodeficiency, common variable, 10Uncertain significance
(Jul 1, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr10:104157268
GRCh38:
Chr10:102397511
NFKB2Immunodeficiency, common variable, 10Uncertain significance
(Aug 23, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr10:104157354
GRCh38:
Chr10:102397597
NFKB2Immunodeficiency, common variable, 10Likely benign
(Feb 12, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr10:104161805
GRCh38:
Chr10:102402048
NFKB2Immunodeficiency, common variable, 10Uncertain significance
(May 7, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr10:104160156
GRCh38:
Chr10:102400399
NFKB2R527Q, R569QImmunodeficiency, common variable, 10Uncertain significance
(Apr 30, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr10:104161491
GRCh38:
Chr10:102401734
NFKB2Immunodeficiency, common variable, 10Likely benign
(Jul 15, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr10:104160210
GRCh38:
Chr10:102400453
NFKB2P545L, P587LImmunodeficiency, common variable, 10Uncertain significance
(Oct 16, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr10:104160990
GRCh38:
Chr10:102401233
NFKB2P667T, P709TImmunodeficiency, common variable, 10Uncertain significance
(Aug 25, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr10:104157176-104157177
GRCh38:
Chr10:102397419-102397420
NFKB2Immunodeficiency, common variable, 10Benign
(Aug 3, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr10:104160402
GRCh38:
Chr10:102400645
NFKB2Immunodeficiency, common variable, 10Likely benign
(Jul 15, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr10:104156476
GRCh38:
Chr10:102396719
NFKB2Immunodeficiency, common variable, 10Uncertain significance
(Mar 10, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr10:104160212
GRCh38:
Chr10:102400455
NFKB2A546P, A588PImmunodeficiency, common variable, 10Uncertain significance
(Oct 16, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr10:104157137
GRCh38:
Chr10:102397380
NFKB2Immunodeficiency, common variable, 10Likely benign
(Dec 23, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr10:104160694
GRCh38:
Chr10:102400937
NFKB2Immunodeficiency, common variable, 10Likely benign
(Oct 5, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr10:104155755
GRCh38:
Chr10:102395998
NFKB2Immunodeficiency, common variable, 10Likely benign
(Feb 19, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr10:104160146
GRCh38:
Chr10:102400389
NFKB2L524V, L566VImmunodeficiency, common variable, 10Uncertain significance
(Sep 13, 2022)
criteria provided, single submitter
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