U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 121

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr22:42322318
GRCh38:
Chr22:41926314
LOC130067574, TNFRSF13CA52TImmunodeficiency, common variable, 4Likely pathogenic
(Dec 15, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr22:42322739
GRCh38:
Chr22:41926735
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(May 4, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr22:42322177
GRCh38:
Chr22:41926173
LOC130067574, TNFRSF13CV99LImmunodeficiency, common variable, 4Uncertain significance
(Sep 21, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr22:42322241
GRCh38:
Chr22:41926237
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Mar 14, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr22:42322756
GRCh38:
Chr22:41926752
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(May 16, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr22:42321422
GRCh38:
Chr22:41925418
TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Mar 16, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr22:42322247
GRCh38:
Chr22:41926243
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Oct 25, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr22:42322677
GRCh38:
Chr22:41926673
LOC130067574, TNFRSF13CA34VImmunodeficiency, common variable, 4Uncertain significance
(Apr 30, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr22:42321404
GRCh38:
Chr22:41925400
TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(May 9, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr22:42322763
GRCh38:
Chr22:41926759
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Aug 19, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr22:42322115
GRCh38:
Chr22:41926111
TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Jan 7, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr22:42321481
GRCh38:
Chr22:41925477
TNFRSF13CG149RImmunodeficiency, common variable, 4Uncertain significance
(Apr 24, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr22:42322767
GRCh38:
Chr22:41926763
LOC130067574, TNFRSF13CG4AImmunodeficiency, common variable, 4Uncertain significance
(Aug 3, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr22:42322697
GRCh38:
Chr22:41926693
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Jun 26, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr22:42321414
GRCh38:
Chr22:41925410
TNFRSF13CT171SImmunodeficiency, common variable, 4Uncertain significance
(Aug 19, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr22:42322184
GRCh38:
Chr22:41926180
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Sep 13, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr22:42321415
GRCh38:
Chr22:41925411
TNFRSF13CT171SImmunodeficiency, common variable, 4Uncertain significance
(Apr 6, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr22:42322273
GRCh38:
Chr22:41926269
LOC130067574, TNFRSF13CA67SImmunodeficiency, common variable, 4Uncertain significance
(Oct 14, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr22:42322298
GRCh38:
Chr22:41926294
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Dec 9, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr22:42322625
GRCh38:
Chr22:41926621
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Jun 13, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr22:42322277
GRCh38:
Chr22:41926273
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Dec 3, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr22:42321389
GRCh38:
Chr22:41925385
TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Sep 1, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr22:42321571
GRCh38:
Chr22:41925567
TNFRSF13CImmunodeficiency, common variable, 4Benign
(Oct 27, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr22:42322112
GRCh38:
Chr22:41926108
TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Nov 18, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr22:42322658
GRCh38:
Chr22:41926654
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Mar 19, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr22:42321389
GRCh38:
Chr22:41925385
TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Aug 30, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr22:42322091
GRCh38:
Chr22:41926087
TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Jul 11, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr22:42322751
GRCh38:
Chr22:41926747
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(May 12, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr22:42322087
GRCh38:
Chr22:41926083
TNFRSF13CImmunodeficiency, common variable, 4Benign
(May 10, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr22:42322295
GRCh38:
Chr22:41926291
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Jul 22, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr22:42322727
GRCh38:
Chr22:41926723
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Nov 26, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr22:42321502
GRCh38:
Chr22:41925498
TNFRSF13CA142TImmunodeficiency, common variable, 4Uncertain significance
(Oct 5, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr22:42322776
GRCh38:
Chr22:41926772
LOC130067574, TNFRSF13CM1KImmunodeficiency, common variable, 4Uncertain significance
(Aug 16, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr22:42322650
GRCh38:
Chr22:41926646
LOC130067574, TNFRSF13CP43LImmunodeficiency, common variable, 4Uncertain significance
(Aug 24, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr22:42322677
GRCh38:
Chr22:41926673
LOC130067574, TNFRSF13CA34DImmunodeficiency, common variable, 4Uncertain significance
(Oct 12, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr22:42321534
GRCh38:
Chr22:41925530
TNFRSF13CI131TImmunodeficiency, common variable, 4Uncertain significance
(Feb 4, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr22:42321493
GRCh38:
Chr22:41925489
TNFRSF13CW145RImmunodeficiency, common variable, 4Uncertain significance
(Aug 23, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr22:42321474
GRCh38:
Chr22:41925470
TNFRSF13CD151VImmunodeficiency, common variable, 4Uncertain significance
(Jun 20, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr22:42322263
GRCh38:
Chr22:41926259
LOC130067574, TNFRSF13CA70VImmunodeficiency, common variable, 4Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr22:42322227
GRCh38:
Chr22:41926223
LOC130067574, TNFRSF13CP82LImmunodeficiency, common variable, 4Uncertain significance
(Jan 3, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr22:42322140-42322141
GRCh38:
Chr22:41926136-41926137
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Uncertain significance
(Sep 25, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr22:42321429
GRCh38:
Chr22:41925425
TNFRSF13CT166IImmunodeficiency, common variable, 4Uncertain significance
(Sep 24, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr22:42322234
GRCh38:
Chr22:41926230
LOC130067574, TNFRSF13CG80SImmunodeficiency, common variable, 4Uncertain significance
(Aug 30, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr22:42321495
GRCh38:
Chr22:41925491
TNFRSF13CA144VImmunodeficiency, common variable, 4Uncertain significance
(Aug 21, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr22:41277754-43089957
Immunodeficiency, common variable, 4Uncertain significance
(Aug 12, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr22:42321523
GRCh38:
Chr22:41925519
TNFRSF13CP135SImmunodeficiency, common variable, 4Uncertain significance
(Oct 27, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr22:42322330
GRCh38:
Chr22:41926326
LOC130067574, TNFRSF13CA48TImmunodeficiency, common variable, 4Uncertain significance
(Oct 8, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr22:42321447
GRCh38:
Chr22:41925443
TNFRSF13CS160IImmunodeficiency, common variable, 4Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
49.
GRCh37:
Chr22:42322743
GRCh38:
Chr22:41926739
LOC130067574, TNFRSF13CD12GImmunodeficiency, common variable, 4Uncertain significance
(May 6, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr22:42322185-42322186
GRCh38:
Chr22:41926181-41926182
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr22:42322105
GRCh38:
Chr22:41926101
TNFRSF13CA123TImmunodeficiency, common variable, 4Uncertain significance
(Jul 5, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr22:42322764
GRCh38:
Chr22:41926760
LOC130067574, TNFRSF13CP5HImmunodeficiency, common variable, 4Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr22:42322644
GRCh38:
Chr22:41926640
TNFRSF13C, LOC130067574P45LImmunodeficiency, common variable, 4Uncertain significance
(Jul 19, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr22:42322141
GRCh38:
Chr22:41926137
LOC130067574, TNFRSF13CA111SImmunodeficiency, common variable, 4Uncertain significance
(Sep 24, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr22:42322652
GRCh38:
Chr22:41926648
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Jul 12, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr22:42321419
GRCh38:
Chr22:41925415
TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Feb 4, 2020)
criteria provided, single submitter
57.
GRCh37:
Chr22:42322232
GRCh38:
Chr22:41926228
TNFRSF13C, LOC130067574Immunodeficiency, common variable, 4Likely benign
(May 14, 2019)
criteria provided, single submitter
58.
GRCh37:
Chr22:42322745
GRCh38:
Chr22:41926741
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Aug 29, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr22:42322196
GRCh38:
Chr22:41926192
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Oct 26, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr22:42322089
GRCh38:
Chr22:41926085
TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Jul 11, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr22:42321568
GRCh38:
Chr22:41925564
TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Jul 6, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr22:42321388
GRCh38:
Chr22:41925384
TNFRSF13CG180SImmunodeficiency, common variable, 4Uncertain significance
(Mar 24, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr22:42322246
GRCh38:
Chr22:41926242
LOC130067574, TNFRSF13CG76WImmunodeficiency, common variable, 4Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr22:42322767
GRCh38:
Chr22:41926763
LOC130067574, TNFRSF13CG4EImmunodeficiency, common variable, 4Uncertain significance
(Jun 20, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr22:42322207-42322208
GRCh38:
Chr22:41926203-41926204
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Uncertain significance
(Dec 13, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr22:42322248
GRCh38:
Chr22:41926244
LOC130067574, TNFRSF13CP75HImmunodeficiency, common variable, 4Uncertain significance
(Jul 16, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr22:42322186-42322197
GRCh38:
Chr22:41926182-41926193
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Uncertain significance
(Sep 24, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr22:42322689
GRCh38:
Chr22:41926685
LOC130067574, TNFRSF13CR30HImmunodeficiency, common variable, 4Uncertain significance
(May 27, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr22:42322196-42322197
GRCh38:
Chr22:41926192-41926193
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr22:42322204-42322215
GRCh38:
Chr22:41926200-41926211
TNFRSF13C, LOC130067574Immunodeficiency, common variable, 4Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr22:42322741
GRCh38:
Chr22:41926737
LOC130067574, TNFRSF13CA13SImmunodeficiency, common variable, 4Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr22:42321571
GRCh38:
Chr22:41925567
TNFRSF13CImmunodeficiency, common variable, 4Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr22:42321264
GRCh38:
Chr22:41925260
TNFRSF13CImmunodeficiency, common variable, 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr22:42321118
GRCh38:
Chr22:41925114
TNFRSF13CImmunodeficiency, common variable, 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr22:42322165
GRCh38:
Chr22:41926161
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Conflicting interpretations of pathogenicity
(Nov 2, 2022)
criteria provided, conflicting interpretations
76.
GRCh37:
Chr22:42322128
GRCh38:
Chr22:41926124
TNFRSF13CE115VImmunodeficiency, common variable, 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr22:42321573
GRCh38:
Chr22:41925569
TNFRSF13CImmunodeficiency, common variable, 4Conflicting interpretations of pathogenicity
(Oct 20, 2022)
criteria provided, conflicting interpretations
78.
GRCh37:
Chr22:42322282
GRCh38:
Chr22:41926278
LOC130067574, TNFRSF13CG64SImmunodeficiency, common variable, 4Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr22:42322150-42322161
GRCh38:
Chr22:41926146-41926157
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Uncertain significance
(Jun 20, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr22:42322194
GRCh38:
Chr22:41926190
TNFRSF13C, LOC130067574L93PImmunodeficiency, common variable, 4Uncertain significance
(Sep 2, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr22:42322273
GRCh38:
Chr22:41926269
TNFRSF13C, LOC130067574A67TImmunodeficiency, common variable, 4Uncertain significance
(Sep 2, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr22:42321351-42322797
TNFRSF13CImmunodeficiency, common variable, 4Uncertain significance
(Jul 11, 2019)
criteria provided, single submitter
83.
GRCh37:
Chr22:42322121
GRCh38:
Chr22:41926117
TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Aug 9, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr22:42322676
GRCh38:
Chr22:41926672
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Sep 23, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr22:42322226
GRCh38:
Chr22:41926222
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Conflicting interpretations of pathogenicity
(Aug 22, 2022)
criteria provided, conflicting interpretations
86.
GRCh37:
Chr22:42322696
GRCh38:
Chr22:41926692
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Nov 13, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr22:42321479
GRCh38:
Chr22:41925475
TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Jun 29, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr22:42321521
GRCh38:
Chr22:41925517
TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Aug 14, 2020)
criteria provided, single submitter
89.
GRCh37:
Chr22:42321551
GRCh38:
Chr22:41925547
TNFRSF13CImmunodeficiency, common variable, 4Conflicting interpretations of pathogenicity
(Sep 1, 2022)
criteria provided, conflicting interpretations
90.
GRCh37:
Chr22:42321490
GRCh38:
Chr22:41925486
TNFRSF13CP146SImmunodeficiency, common variable, 4Conflicting interpretations of pathogenicity
(Oct 20, 2022)
criteria provided, conflicting interpretations
91.
GRCh37:
Chr22:42321383-42321392
GRCh38:
Chr22:41925379-41925388
TNFRSF13CA179fsImmunodeficiency, common variable, 4Uncertain significance
(Oct 13, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr22:42321441
GRCh38:
Chr22:41925437
TNFRSF13CP162LImmunodeficiency, common variable, 4Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr22:42322147
GRCh38:
Chr22:41926143
LOC130067574, TNFRSF13CR109CImmunodeficiency, common variable, 4Uncertain significance
(Jun 4, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr22:42322299
GRCh38:
Chr22:41926295
LOC130067574, TNFRSF13CQ58LImmunodeficiency, common variable, 4Uncertain significance
(Aug 20, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr22:42321448
GRCh38:
Chr22:41925444
TNFRSF13CS160GImmunodeficiency, common variable, 4Uncertain significance
(Aug 30, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr22:41697339-42466321
GRCh38:
Chr22:41301335-42070317
Immunodeficiency, common variable, 4Uncertain significance
(Aug 17, 2017)
criteria provided, single submitter
97.
GRCh37:
Chr22:42322646
GRCh38:
Chr22:41926642
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Aug 7, 2020)
criteria provided, single submitter
98.
GRCh37:
Chr22:42322259
GRCh38:
Chr22:41926255
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Conflicting interpretations of pathogenicity
(Jul 26, 2022)
criteria provided, conflicting interpretations
99.
GRCh37:
Chr22:42322095
GRCh38:
Chr22:41926091
TNFRSF13CImmunodeficiency, common variable, 4Likely benign
(Feb 4, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr22:42322190
GRCh38:
Chr22:41926186
LOC130067574, TNFRSF13CImmunodeficiency, common variable, 4Benign/Likely benign
(Oct 26, 2022)
criteria provided, multiple submitters, no conflicts
Format
Items per page
Sort by
Choose Destination