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Links from Gene

Items: 18

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr6:32813576
GRCh38:
Chr6:32845799
PSMB8-AS1, TAP1Bare lymphocyte syndrome type 1Benign
(Nov 30, 2020)
criteria provided, single submitterVCV001164327
2.
GRCh37:
Chr6:32813464
GRCh38:
Chr6:32845687
PSMB8-AS1, TAP1Bare lymphocyte syndrome type 1Likely benign
(Oct 30, 2019)
criteria provided, single submitterVCV001141797
3.
GRCh37:
Chr6:32813416
GRCh38:
Chr6:32845639
PSMB8-AS1, TAP1Bare lymphocyte syndrome type 1Likely benign
(Feb 19, 2020)
criteria provided, single submitterVCV001133946
4.
GRCh37:
Chr6:32813575
GRCh38:
Chr6:32845798
PSMB8-AS1, TAP1Bare lymphocyte syndrome type 1Likely benign
(Oct 21, 2020)
criteria provided, single submitterVCV001101299
5.
GRCh37:
Chr6:32813541
GRCh38:
Chr6:32845764
PSMB8-AS1, TAP1S487G, S688GBare lymphocyte syndrome type 1Uncertain significance
(Sep 17, 2020)
criteria provided, single submitterVCV001056023
6.
GRCh37:
Chr6:32813556
GRCh38:
Chr6:32845779
PSMB8-AS1, TAP1Q482K, Q683KBare lymphocyte syndrome type 1Uncertain significance
(Sep 8, 2020)
criteria provided, single submitterVCV001025702
7.
GRCh37:
Chr6:32813531
GRCh38:
Chr6:32845754
PSMB8-AS1, TAP1R490P, R691PBare lymphocyte syndrome type 1Uncertain significance
(Aug 10, 2020)
criteria provided, single submitterVCV000972503
8.
GRCh37:
Chr6:32813463
GRCh38:
Chr6:32845686
PSMB8-AS1, TAP1F513L, F714LBare lymphocyte syndrome type 1Uncertain significance
(Nov 11, 2019)
criteria provided, single submitterVCV000970299
9.
GRCh37:
Chr6:32813436
GRCh38:
Chr6:32845659
PSMB8-AS1, TAP1G522W, G723WBare lymphocyte syndrome type 1Uncertain significance
(Jul 19, 2019)
criteria provided, single submitterVCV000953961
10.
GRCh37:
Chr6:32813459
GRCh38:
Chr6:32845682
PSMB8-AS1, TAP1L514R, L715RBare lymphocyte syndrome type 1Uncertain significance
(Sep 3, 2019)
criteria provided, single submitterVCV000938034
11.
GRCh37:
Chr6:32813448
GRCh38:
Chr6:32845671
PSMB8-AS1, TAP1A719T, A518TBare lymphocyte syndrome type 1Uncertain significance
(Jun 16, 2019)
criteria provided, single submitterVCV000936651
12.
GRCh37:
Chr6:32813449
GRCh38:
Chr6:32845672
PSMB8-AS1, TAP1Bare lymphocyte syndrome type 1Likely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000773326
13.
GRCh37:
Chr6:32813531
GRCh38:
Chr6:32845754
PSMB8-AS1, TAP1R490Q, R751Q, R691QBare lymphocyte syndrome type 1, not providedLikely benign
(Jul 13, 2020)
criteria provided, single submitterVCV000738461
14.
GRCh37:
Chr6:32813472
GRCh38:
Chr6:32845695
PSMB8-AS1, TAP1H771D, H510D, H711DBare lymphocyte syndrome type 1Uncertain significance
(May 10, 2019)
criteria provided, single submitterVCV000569257
15.
GRCh37:
Chr6:32813527
GRCh38:
Chr6:32845750
PSMB8-AS1, TAP1Bare lymphocyte syndrome type 1Likely benign
(Nov 11, 2020)
criteria provided, single submitterVCV000534729
16.
GRCh37:
Chr6:32813384
GRCh38:
Chr6:32845607
PSMB8-AS1, TAP1V800A, V539A, V740ABare lymphocyte syndrome type 1Uncertain significance
(Jul 5, 2017)
criteria provided, single submitterVCV000466387
17.
GRCh37:
Chr6:32813421
GRCh38:
Chr6:32845644
PSMB8-AS1, TAP1Q788K, Q527K, Q728KBare lymphocyte syndrome type 1Benign
(Nov 3, 2020)
criteria provided, single submitterVCV000466386
18.
TAP1Bare lymphocyte syndrome type 1Pathogenic
(Mar 1, 1999)
no assertion criteria providedVCV000013732
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