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Links from Gene

Items: 1 to 100 of 177

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr6:32821859
GRCh38:
Chr6:32854082
TAP1Bare lymphocyte syndrome type 1Benign
(Nov 25, 2020)
criteria provided, single submitterVCV001170127
2.
GRCh37:
Chr6:32820799
GRCh38:
Chr6:32853022
TAP1Bare lymphocyte syndrome type 1Benign
(Dec 2, 2020)
criteria provided, single submitterVCV001165698
3.
GRCh37:
Chr6:32813576
GRCh38:
Chr6:32845799
PSMB8-AS1, TAP1Bare lymphocyte syndrome type 1Benign
(Nov 30, 2020)
criteria provided, single submitterVCV001164327
4.
GRCh37:
Chr6:32815834
GRCh38:
Chr6:32848057
TAP1Bare lymphocyte syndrome type 1Likely benign
(Dec 4, 2019)
criteria provided, single submitterVCV001153763
5.
GRCh37:
Chr6:32820967
GRCh38:
Chr6:32853190
TAP1Bare lymphocyte syndrome type 1Likely benign
(Sep 4, 2020)
criteria provided, single submitterVCV001152584
6.
GRCh37:
Chr6:32818886
GRCh38:
Chr6:32851109
TAP1Bare lymphocyte syndrome type 1Likely benign
(Sep 16, 2020)
criteria provided, single submitterVCV001150653
7.
GRCh37:
Chr6:32815423
GRCh38:
Chr6:32847646
TAP1Bare lymphocyte syndrome type 1Likely benign
(Jan 28, 2020)
criteria provided, single submitterVCV001147944
8.
GRCh37:
Chr6:32818301
GRCh38:
Chr6:32850524
TAP1Bare lymphocyte syndrome type 1Likely benign
(Nov 21, 2019)
criteria provided, single submitterVCV001145899
9.
GRCh37:
Chr6:32813464
GRCh38:
Chr6:32845687
PSMB8-AS1, TAP1Bare lymphocyte syndrome type 1Likely benign
(Oct 30, 2019)
criteria provided, single submitterVCV001141797
10.
GRCh37:
Chr6:32821045
GRCh38:
Chr6:32853268
TAP1Bare lymphocyte syndrome type 1Likely benign
(Oct 14, 2019)
criteria provided, single submitterVCV001140436
11.
GRCh37:
Chr6:32813416
GRCh38:
Chr6:32845639
PSMB8-AS1, TAP1Bare lymphocyte syndrome type 1Likely benign
(Feb 19, 2020)
criteria provided, single submitterVCV001133946
12.
GRCh37:
Chr6:32819920
GRCh38:
Chr6:32852143
TAP1Bare lymphocyte syndrome type 1Likely benign
(Feb 13, 2019)
criteria provided, single submitterVCV001133492
13.
GRCh37:
Chr6:32819911
GRCh38:
Chr6:32852134
TAP1Bare lymphocyte syndrome type 1Likely benign
(Sep 20, 2020)
criteria provided, single submitterVCV001129842
14.
GRCh37:
Chr6:32814923
GRCh38:
Chr6:32847146
TAP1Bare lymphocyte syndrome type 1Likely benign
(Jul 4, 2019)
criteria provided, single submitterVCV001127887
15.
GRCh37:
Chr6:32818244
GRCh38:
Chr6:32850467
TAP1Bare lymphocyte syndrome type 1Likely benign
(Mar 25, 2020)
criteria provided, single submitterVCV001127417
16.
GRCh37:
Chr6:32820263
GRCh38:
Chr6:32852486
TAP1Bare lymphocyte syndrome type 1Likely benign
(May 13, 2019)
criteria provided, single submitterVCV001123027
17.
GRCh37:
Chr6:32818291
GRCh38:
Chr6:32850514
TAP1Bare lymphocyte syndrome type 1Likely benign
(Jan 24, 2020)
criteria provided, single submitterVCV001118501
18.
GRCh37:
Chr6:32815747
GRCh38:
Chr6:32847970
TAP1Bare lymphocyte syndrome type 1Likely benign
(Mar 22, 2020)
criteria provided, single submitterVCV001116353
19.
GRCh37:
Chr6:32818750
GRCh38:
Chr6:32850973
TAP1Bare lymphocyte syndrome type 1Likely benign
(Jul 26, 2019)
criteria provided, single submitterVCV001114572
20.
GRCh37:
Chr6:32813575
GRCh38:
Chr6:32845798
PSMB8-AS1, TAP1Bare lymphocyte syndrome type 1Likely benign
(Oct 21, 2020)
criteria provided, single submitterVCV001101299
21.
GRCh37:
Chr6:32816839
GRCh38:
Chr6:32849062
TAP1Bare lymphocyte syndrome type 1Likely benign
(Nov 20, 2020)
criteria provided, single submitterVCV001099327
22.
GRCh37:
Chr6:32820863
GRCh38:
Chr6:32853086
TAP1T184MBare lymphocyte syndrome type 1Likely benign
(Aug 15, 2020)
criteria provided, single submitterVCV001099324
23.
GRCh37:
Chr6:32820862
GRCh38:
Chr6:32853085
TAP1Bare lymphocyte syndrome type 1Likely benign
(May 3, 2020)
criteria provided, single submitterVCV001095324
24.
GRCh37:
Chr6:32820239
GRCh38:
Chr6:32852462
TAP1Bare lymphocyte syndrome type 1Likely benign
(Sep 21, 2020)
criteria provided, single submitterVCV001089686
25.
GRCh37:
Chr6:32821051
GRCh38:
Chr6:32853274
TAP1Bare lymphocyte syndrome type 1Likely benign
(Sep 16, 2020)
criteria provided, single submitterVCV001089578
26.
GRCh37:
Chr6:32821507
GRCh38:
Chr6:32853730
TAP1Bare lymphocyte syndrome type 1Likely benign
(Apr 27, 2020)
criteria provided, single submitterVCV001087111
27.
GRCh37:
Chr6:32815447
GRCh38:
Chr6:32847670
TAP1Bare lymphocyte syndrome type 1Likely benign
(Apr 26, 2019)
criteria provided, single submitterVCV001086172
28.
GRCh37:
Chr6:32815843
GRCh38:
Chr6:32848066
TAP1Bare lymphocyte syndrome type 1Likely benign
(Jan 18, 2020)
criteria provided, single submitterVCV001082369
29.
GRCh37:
Chr6:32820221
GRCh38:
Chr6:32852444
TAP1Bare lymphocyte syndrome type 1Likely benign
(Feb 21, 2020)
criteria provided, single submitterVCV001081729
30.
GRCh37:
Chr6:32815314-32815327
GRCh38:
Chr6:32847537-32847550
TAP1H421fs, H622fsBare lymphocyte syndrome type 1Pathogenic
(Jun 16, 2020)
criteria provided, single submitterVCV001074323
31.
GRCh37:
Chr6:32819925
GRCh38:
Chr6:32852148
TAP1L269V, L68VBare lymphocyte syndrome type 1Uncertain significance
(Sep 25, 2020)
criteria provided, single submitterVCV001061505
32.
GRCh37:
Chr6:32814948
GRCh38:
Chr6:32847171
TAP1G445V, G646VBare lymphocyte syndrome type 1Uncertain significance
(Mar 26, 2020)
criteria provided, single submitterVCV001060319
33.
GRCh37:
Chr6:32819984
GRCh38:
Chr6:32852207
TAP1Y249C, Y48CBare lymphocyte syndrome type 1Uncertain significance
(Jun 4, 2020)
criteria provided, single submitterVCV001060163
34.
GRCh37:
Chr6:32813541
GRCh38:
Chr6:32845764
PSMB8-AS1, TAP1S487G, S688GBare lymphocyte syndrome type 1Uncertain significance
(Sep 17, 2020)
criteria provided, single submitterVCV001056023
35.
GRCh37:
Chr6:32818726
GRCh38:
Chr6:32850949
TAP1Y148H, Y349HBare lymphocyte syndrome type 1Uncertain significance
(Oct 10, 2020)
criteria provided, single submitterVCV001043329
36.
GRCh37:
Chr6:32818935
GRCh38:
Chr6:32851158
TAP1Bare lymphocyte syndrome type 1Uncertain significance
(Aug 30, 2020)
criteria provided, single submitterVCV001040967
37.
GRCh37:
Chr6:32820273
GRCh38:
Chr6:32852496
TAP1M1R, M202RBare lymphocyte syndrome type 1Uncertain significance
(Jun 21, 2020)
criteria provided, single submitterVCV001040483
38.
GRCh37:
Chr6:32820268
GRCh38:
Chr6:32852491
TAP1I204V, I3VBare lymphocyte syndrome type 1Uncertain significance
(Apr 21, 2020)
criteria provided, single submitterVCV001039930
39.
GRCh37:
Chr6:32821556
GRCh38:
Chr6:32853779
TAP1Bare lymphocyte syndrome type 1Uncertain significance
(Oct 19, 2020)
criteria provided, single submitterVCV001039130
40.
GRCh37:
Chr6:32816477
GRCh38:
Chr6:32848700
TAP1Bare lymphocyte syndrome type 1Uncertain significance
(Jan 31, 2020)
criteria provided, single submitterVCV001036715
41.
GRCh37:
Chr6:32814921
GRCh38:
Chr6:32847144
TAP1R655Q, R454QBare lymphocyte syndrome type 1Uncertain significance
(Jun 26, 2020)
criteria provided, single submitterVCV001034756
42.
GRCh37:
Chr6:32813556
GRCh38:
Chr6:32845779
PSMB8-AS1, TAP1Q482K, Q683KBare lymphocyte syndrome type 1Uncertain significance
(Sep 8, 2020)
criteria provided, single submitterVCV001025702
43.
GRCh37:
Chr6:32821104
GRCh38:
Chr6:32853327
TAP1G104CBare lymphocyte syndrome type 1Uncertain significance
(May 20, 2020)
criteria provided, single submitterVCV001022690
44.
GRCh37:
Chr6:32818890
GRCh38:
Chr6:32851113
TAP1T294I, T93IBare lymphocyte syndrome type 1Uncertain significance
(Aug 21, 2020)
criteria provided, single submitterVCV001009274
45.
GRCh37:
Chr6:32814948
GRCh38:
Chr6:32847171
TAP1G445A, G646ABare lymphocyte syndrome type 1Uncertain significance
(Jul 16, 2020)
criteria provided, single submitterVCV001007064
46.
GRCh37:
Chr6:32820174
GRCh38:
Chr6:32852397
TAP1T235S, T34SBare lymphocyte syndrome type 1Uncertain significance
(Apr 14, 2020)
criteria provided, single submitterVCV001005973
47.
GRCh37:
Chr6:32815850
GRCh38:
Chr6:32848073
TAP1R328H, R529HBare lymphocyte syndrome type 1Uncertain significance
(Jul 29, 2020)
criteria provided, single submitterVCV001005448
48.
GRCh37:
Chr6:32819948
GRCh38:
Chr6:32852171
TAP1Q261P, Q60PBare lymphocyte syndrome type 1Uncertain significance
(Mar 29, 2020)
criteria provided, single submitterVCV001005341
49.
GRCh37:
Chr6:32821020
GRCh38:
Chr6:32853243
TAP1H132NBare lymphocyte syndrome type 1Uncertain significance
(Jan 15, 2020)
criteria provided, single submitterVCV001003137
50.
GRCh37:
Chr6:32816488
GRCh38:
Chr6:32848711
TAP1V302F, V503FBare lymphocyte syndrome type 1Uncertain significance
(Apr 23, 2020)
criteria provided, single submitterVCV001002889
51.
GRCh37:
Chr6:32814930
GRCh38:
Chr6:32847153
TAP1A451V, A652VBare lymphocyte syndrome type 1Uncertain significance
(Apr 6, 2020)
criteria provided, single submitterVCV000998750
52.
GRCh37:
Chr6:32813531
GRCh38:
Chr6:32845754
PSMB8-AS1, TAP1R490P, R691PBare lymphocyte syndrome type 1Uncertain significance
(Aug 10, 2020)
criteria provided, single submitterVCV000972503
53.
GRCh37:
Chr6:32821562
GRCh38:
Chr6:32853785
TAP1Bare lymphocyte syndrome type 1Uncertain significance
(Oct 4, 2019)
criteria provided, single submitterVCV000971323
54.
GRCh37:
Chr6:32813463
GRCh38:
Chr6:32845686
PSMB8-AS1, TAP1F513L, F714LBare lymphocyte syndrome type 1Uncertain significance
(Nov 11, 2019)
criteria provided, single submitterVCV000970299
55.
GRCh37:
Chr6:32815723
GRCh38:
Chr6:32847946
TAP1Bare lymphocyte syndrome type 1Uncertain significance
(Sep 11, 2019)
criteria provided, single submitterVCV000961582
56.
GRCh37:
Chr6:32820943
GRCh38:
Chr6:32853166
TAP1Bare lymphocyte syndrome type 1Uncertain significance
(Aug 28, 2019)
criteria provided, single submitterVCV000960446
57.
GRCh37:
Chr6:32818917
GRCh38:
Chr6:32851140
TAP1M285T, M84TBare lymphocyte syndrome type 1Uncertain significance
(Jul 23, 2019)
criteria provided, single submitterVCV000954588
58.
GRCh37:
Chr6:32813436
GRCh38:
Chr6:32845659
TAP1, PSMB8-AS1G522W, G723WBare lymphocyte syndrome type 1Uncertain significance
(Jul 19, 2019)
criteria provided, single submitterVCV000953961
59.
GRCh37:
Chr6:32819922
GRCh38:
Chr6:32852145
TAP1R69C, R270CBare lymphocyte syndrome type 1Uncertain significance
(Sep 12, 2019)
criteria provided, single submitterVCV000953392
60.
GRCh37:
Chr6:32818836
GRCh38:
Chr6:32851059
TAP1R111Q, R312QBare lymphocyte syndrome type 1Uncertain significance
(Jul 10, 2019)
criteria provided, single submitterVCV000951669
61.
GRCh37:
Chr6:32815714
GRCh38:
Chr6:32847937
TAP1H574Q, H373QBare lymphocyte syndrome type 1Uncertain significance
(May 6, 2019)
criteria provided, single submitterVCV000951483
62.
GRCh37:
Chr6:32821028
GRCh38:
Chr6:32853251
TAP1R129KBare lymphocyte syndrome type 1Uncertain significance
(Mar 18, 2020)
criteria provided, single submitterVCV000946255
63.
GRCh37:
Chr6:32815286
GRCh38:
Chr6:32847509
TAP1Bare lymphocyte syndrome type 1Uncertain significance
(Apr 8, 2019)
criteria provided, single submitterVCV000945702
64.
GRCh37:
Chr6:32816762
GRCh38:
Chr6:32848985
TAP1Bare lymphocyte syndrome type 1Uncertain significance
(Sep 22, 2019)
criteria provided, single submitterVCV000942949
65.
GRCh37:
Chr6:32814901
GRCh38:
Chr6:32847124
TAP1C461R, C662RBare lymphocyte syndrome type 1Uncertain significance
(Sep 26, 2019)
criteria provided, single submitterVCV000942470
66.
GRCh37:
Chr6:32816815
GRCh38:
Chr6:32849038
TAP1N242K, N443KBare lymphocyte syndrome type 1Uncertain significance
(Jun 12, 2020)
criteria provided, single submitterVCV000942271
67.
GRCh37:
Chr6:32819991
GRCh38:
Chr6:32852214
TAP1G247W, G46WBare lymphocyte syndrome type 1Uncertain significance
(Aug 21, 2019)
criteria provided, single submitterVCV000940867
68.
GRCh37:
Chr6:32821008
GRCh38:
Chr6:32853231
TAP1H136NBare lymphocyte syndrome type 1Uncertain significance
(Sep 3, 2019)
criteria provided, single submitterVCV000938918
69.
GRCh37:
Chr6:32813459
GRCh38:
Chr6:32845682
PSMB8-AS1, TAP1L514R, L715RBare lymphocyte syndrome type 1Uncertain significance
(Sep 3, 2019)
criteria provided, single submitterVCV000938034
70.
GRCh37:
Chr6:32818213
GRCh38:
Chr6:32850436
TAP1R177*, R378*Bare lymphocyte syndrome type 1Pathogenic
(Aug 30, 2019)
criteria provided, single submitterVCV000937533
71.
GRCh37:
Chr6:32821458-32821459
GRCh38:
Chr6:32853681-32853682
TAP1Bare lymphocyte syndrome type 1Pathogenic
(Jun 6, 2019)
criteria provided, single submitterVCV000937287
72.
GRCh37:
Chr6:32813448
GRCh38:
Chr6:32845671
PSMB8-AS1, TAP1A719T, A518TBare lymphocyte syndrome type 1Uncertain significance
(Jun 16, 2019)
criteria provided, single submitterVCV000936651
73.
GRCh37:
Chr6:32821112
GRCh38:
Chr6:32853335
TAP1A101VBare lymphocyte syndrome type 1Uncertain significance
(Jun 26, 2019)
criteria provided, single submitterVCV000935274
74.
GRCh37:
Chr6:32821560
GRCh38:
Chr6:32853783
TAP1Bare lymphocyte syndrome type 1Uncertain significance
(Feb 5, 2019)
criteria provided, single submitterVCV000863025
75.
GRCh37:
Chr6:32821088
GRCh38:
Chr6:32853311
TAP1G169A, G109ABare lymphocyte syndrome type 1Uncertain significance
(Jan 13, 2020)
criteria provided, single submitterVCV000859538
76.
GRCh37:
Chr6:32818812
GRCh38:
Chr6:32851035
TAP1M380K, M119K, M320KBare lymphocyte syndrome type 1Uncertain significance
(Dec 2, 2019)
criteria provided, single submitterVCV000859363
77.
GRCh37:
Chr6:32818735
GRCh38:
Chr6:32850958
TAP1G145R, G406R, G346RBare lymphocyte syndrome type 1Uncertain significance
(Feb 7, 2020)
criteria provided, single submitterVCV000858052
78.
GRCh37:
Chr6:32818230
GRCh38:
Chr6:32850453
TAP1S171L, S432L, S372LBare lymphocyte syndrome type 1Uncertain significance
(Oct 25, 2020)
criteria provided, single submitterVCV000857517
79.
GRCh37:
Chr6:32815842
GRCh38:
Chr6:32848065
TAP1E592K, E331K, E532KBare lymphocyte syndrome type 1Uncertain significance
(Jul 19, 2020)
criteria provided, single submitterVCV000855753
80.
GRCh37:
Chr6:32815421
GRCh38:
Chr6:32847644
TAP1F390S, F651S, F591SBare lymphocyte syndrome type 1Uncertain significance
(Mar 4, 2019)
criteria provided, single submitterVCV000852809
81.
GRCh37:
Chr6:32821239
GRCh38:
Chr6:32853462
TAP1A119T, A59TBare lymphocyte syndrome type 1Uncertain significance
(Dec 4, 2019)
criteria provided, single submitterVCV000849349
82.
GRCh37:
Chr6:32818097
GRCh38:
Chr6:32850320
TAP1Bare lymphocyte syndrome type 1Uncertain significance
(Jan 24, 2019)
criteria provided, single submitterVCV000847590
83.
GRCh37:
Chr6:32815355
GRCh38:
Chr6:32847578
TAP1T412I, T673I, T613IBare lymphocyte syndrome type 1Uncertain significance
(Jul 3, 2020)
criteria provided, single submitterVCV000843581
84.
GRCh37:
Chr6:32815410
GRCh38:
Chr6:32847633
TAP1L655V, L394V, L595VBare lymphocyte syndrome type 1Uncertain significance
(Oct 19, 2020)
criteria provided, single submitterVCV000842574
85.
GRCh37:
Chr6:32816439
GRCh38:
Chr6:32848662
TAP1L318S, L579S, L519SBare lymphocyte syndrome type 1Uncertain significance
(Feb 3, 2019)
criteria provided, single submitterVCV000841075
86.
GRCh37:
Chr6:32821433
GRCh38:
Chr6:32853656
TAP1R54PBare lymphocyte syndrome type 1Uncertain significance
(Jan 2, 2020)
criteria provided, single submitterVCV000840001
87.
GRCh37:
Chr6:32816431
GRCh38:
Chr6:32848654
TAP1Q582*, Q321*, Q522*Bare lymphocyte syndrome type 1Pathogenic
(Apr 8, 2019)
criteria provided, single submitterVCV000839821
88.
GRCh37:
Chr6:32818275
GRCh38:
Chr6:32850498
TAP1R156Q, R417Q, R357QBare lymphocyte syndrome type 1Uncertain significance
(Dec 23, 2019)
criteria provided, single submitterVCV000834634
89.
GRCh37:
Chr6:31036397-34088832
not providedLikely pathogenic
(Jul 10, 2018)
no assertion criteria providedVCV000814807
90.
GRCh37:
Chr6:32821006
GRCh38:
Chr6:32853229
TAP1not providedLikely benign
(Nov 21, 2018)
criteria provided, single submitterVCV000795557
91.
GRCh37:
Chr6:32820930
GRCh38:
Chr6:32853153
TAP1V222M, V162MBare lymphocyte syndrome type 1Likely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000791724
92.
GRCh37:
Chr6:32813449
GRCh38:
Chr6:32845672
TAP1, PSMB8-AS1Bare lymphocyte syndrome type 1Likely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000773326
93.
GRCh37:
Chr6:32820977
GRCh38:
Chr6:32853200
TAP1A206V, A146VBare lymphocyte syndrome type 1Benign
(Oct 26, 2020)
criteria provided, single submitterVCV000771394
94.
GRCh37:
Chr6:32820847
GRCh38:
Chr6:32853070
TAP1not providedLikely benign
(Aug 8, 2018)
criteria provided, single submitterVCV000765228
95.
GRCh37:
Chr6:32815381
GRCh38:
Chr6:32847604
TAP1not provided, Bare lymphocyte syndrome type 1Likely benign
(Jul 9, 2018)
criteria provided, single submitterVCV000762592
96.
GRCh37:
Chr6:32821228
GRCh38:
Chr6:32853451
TAP1Bare lymphocyte syndrome type 1Likely benign
(Apr 18, 2019)
criteria provided, single submitterVCV000761231
97.
GRCh37:
Chr6:32821422
GRCh38:
Chr6:32853645
TAP1not providedLikely benign
(Jun 5, 2018)
criteria provided, single submitterVCV000761099
98.
GRCh37:
Chr6:32814917
GRCh38:
Chr6:32847140
TAP1not provided, Bare lymphocyte syndrome type 1Likely benign
(Jun 21, 2018)
criteria provided, single submitterVCV000761053
99.
GRCh37:
Chr6:32821495
GRCh38:
Chr6:32853718
TAP1Bare lymphocyte syndrome type 1Likely benign
(Sep 11, 2019)
criteria provided, single submitterVCV000742182
100.
GRCh37:
Chr6:32821327
GRCh38:
Chr6:32853550
TAP1Bare lymphocyte syndrome type 1Likely benign
(Sep 11, 2019)
criteria provided, single submitterVCV000742170
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