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Items: 69

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
SERPING1Angioedema, hereditary, autosomal recessivePathogenic
(Aug 1, 1996)
no assertion criteria provided
2.
SERPING1Hereditary angioedema type 1Pathogenic
(Jan 1, 1992)
no assertion criteria provided
3.
SERPING1Hereditary angioedema type 1Pathogenic
(Dec 1, 1991)
no assertion criteria provided
4.
SERPING1Hereditary angioedema type 1Pathogenic
(Dec 19, 2012)
no assertion criteria provided
5.
SERPING1Hereditary angioedema type 1Pathogenic
(Sep 1, 1991)
no assertion criteria provided
6.
SERPING1Hereditary angioedema type 1Pathogenic
(Jun 1, 1989)
no assertion criteria provided
7.
GRCh37:
Chr11:57365113
GRCh38:
Chr11:57597640
SERPING1Hereditary AngioedemaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr11:57365119
GRCh38:
Chr11:57597646
SERPING1Hereditary AngioedemaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr11:57365119
GRCh38:
Chr11:57597646
SERPING1Hereditary AngioedemaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr11:57365162
GRCh38:
Chr11:57597689
SERPING1Hereditary AngioedemaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr11:57365182
GRCh38:
Chr11:57597709
SERPING1Hereditary AngioedemaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr11:57365194
GRCh38:
Chr11:57597721
SERPING1Hereditary AngioedemaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr11:57365723
GRCh38:
Chr11:57598250
SERPING1Hereditary AngioedemaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr11:57365748
GRCh38:
Chr11:57598275
SERPING1Hereditary AngioedemaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr11:57365794
GRCh38:
Chr11:57598321
SERPING1Hereditary AngioedemaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr11:57365794
GRCh38:
Chr11:57598321
SERPING1not providednot providedno assertion provided
17.
GRCh37:
Chr11:57367351
GRCh38:
Chr11:57599878
SERPING1not providedPathogenic
(Sep 21, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr11:57367417
GRCh38:
Chr11:57599944
SERPING1Hereditary AngioedemaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr11:57367435
GRCh38:
Chr11:57599962
SERPING1Hereditary AngioedemaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr11:57367467
GRCh38:
Chr11:57599994
SERPING1Hereditary AngioedemaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr11:57367527
GRCh38:
Chr11:57600054
SERPING1Hereditary AngioedemaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr11:57367579
GRCh38:
Chr11:57600106
SERPING1not specifiedLikely benign
(Mar 28, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr11:57367585
GRCh38:
Chr11:57600112
SERPING1Hereditary AngioedemaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr11:57367652
GRCh38:
Chr11:57600179
SERPING1not provided, Hereditary AngioedemaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr11:57367761
GRCh38:
Chr11:57600288
SERPING1not providednot providedno assertion provided
26.
GRCh37:
Chr11:57367765
GRCh38:
Chr11:57600292
SERPING1Hereditary AngioedemaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr11:57367768
GRCh38:
Chr11:57600295
SERPING1Hereditary AngioedemaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr11:57367809
GRCh38:
Chr11:57600336
SERPING1not providednot providedno assertion provided
29.
GRCh37:
Chr11:57367812
GRCh38:
Chr11:57600339
SERPING1not providedLikely pathogenic
(Dec 8, 2015)
criteria provided, single submitter
30.
GRCh37:
Chr11:57367850
GRCh38:
Chr11:57600377
SERPING1not providedLikely pathogenic
(Sep 13, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr11:57368595-57369950
GRCh38:
Chr11:57601122-57602477
SERPING1Hereditary angioedema type 1Pathogenic
(Oct 7, 2013)
no assertion criteria provided
32.
GRCh37:
Chr11:57369544
GRCh38:
Chr11:57602071
SERPING1Hereditary angioedema type 1Uncertain significance
(Oct 7, 2013)
no assertion criteria provided
33.
GRCh37:
Chr11:57369546
GRCh38:
Chr11:57602073
SERPING1not specifiedUncertain significance
(Mar 29, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr11:57369554
GRCh38:
Chr11:57602081
SERPING1Hereditary angioedema type 1Pathogenic
(Jul 1, 2006)
no assertion criteria provided
35.
GRCh37:
Chr11:57369730
GRCh38:
Chr11:57602257
SERPING1not providednot providedno assertion provided
36.
GRCh37:
Chr11:57373474
GRCh38:
Chr11:57606001
SERPING1not provided, Hereditary AngioedemaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr11:57373478
GRCh38:
Chr11:57606005
SERPING1Hereditary AngioedemaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr11:57373486
GRCh38:
Chr11:57606013
SERPING1not providednot providedno assertion provided
39.
GRCh37:
Chr11:57373492
GRCh38:
Chr11:57606019
SERPING1not providednot providedno assertion provided
40.
GRCh37:
Chr11:57373548
GRCh38:
Chr11:57606075
SERPING1not specified, Hereditary AngioedemaBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr11:57373549
GRCh38:
Chr11:57606076
SERPING1not providedLikely pathogenic
(Jun 28, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr11:57373646
GRCh38:
Chr11:57606173
SERPING1Hereditary AngioedemaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr11:57373653
GRCh38:
Chr11:57606180
SERPING1not providedPathogenic
(Jul 10, 2015)
criteria provided, single submitter
44.
GRCh37:
Chr11:57373668
GRCh38:
Chr11:57606195
SERPING1not providedLikely pathogenic
(Aug 24, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr11:57373886
GRCh38:
Chr11:57606413
SERPING1not providednot providedno assertion provided
46.
GRCh37:
Chr11:57373927
GRCh38:
Chr11:57606454
SERPING1not providedPathogenic
(Apr 18, 2017)
criteria provided, single submitter
47.
GRCh37:
Chr11:57373944
GRCh38:
Chr11:57606471
SERPING1Hereditary angioedema type 1Pathogenic
(Oct 7, 2013)
no assertion criteria provided
48.
GRCh37:
Chr11:57379170
GRCh38:
Chr11:57611697
SERPING1not specifiedBenigncriteria provided, single submitter
49.
GRCh37:
Chr11:57379281
GRCh38:
Chr11:57611808
SERPING1not specifiedUncertain significance
(Apr 7, 2017)
criteria provided, single submitter
50.
GRCh37:
Chr11:57379329-57379335
GRCh38:
Chr11:57611856-57611862
SERPING1not providedPathogenic
(Jul 29, 2015)
criteria provided, single submitter
51.
GRCh37:
Chr11:57379378
GRCh38:
Chr11:57611905
SERPING1Hereditary AngioedemaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr11:57381840
GRCh38:
Chr11:57614367
SERPING1not providednot providedno assertion provided
53.
GRCh37:
Chr11:57381873
GRCh38:
Chr11:57614400
SERPING1not providednot providedno assertion provided
54.
GRCh37:
Chr11:57381891
GRCh38:
Chr11:57614418
SERPING1not providednot providedno assertion provided
55.
GRCh37:
Chr11:57381908-57381909
GRCh38:
Chr11:57614435-57614436
SERPING1Hereditary C1 esterase inhibitor deficiency - dysfunctional factorPathogenic
(Sep 1, 1993)
no assertion criteria provided
56.
GRCh37:
Chr11:57381912
GRCh38:
Chr11:57614439
SERPING1Hereditary C1 esterase inhibitor deficiency - dysfunctional factorPathogenic
(Aug 1, 1992)
no assertion criteria provided
57.
GRCh37:
Chr11:57381923
GRCh38:
Chr11:57614450
SERPING1Hereditary C1 esterase inhibitor deficiency - dysfunctional factorPathogenic
(Aug 1, 1992)
no assertion criteria provided
58.
GRCh37:
Chr11:57381945
GRCh38:
Chr11:57614472
SERPING1Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitorPathogenic
(Mar 1, 1995)
no assertion criteria provided
59.
GRCh37:
Chr11:57381947
GRCh38:
Chr11:57614474
SERPING1Hereditary C1 esterase inhibitor deficiency - dysfunctional factor, not providedPathogenic
(Jun 18, 1990)
no assertion criteria provided
60.
GRCh37:
Chr11:57381947
GRCh38:
Chr11:57614474
SERPING1Hereditary C1 esterase inhibitor deficiency - dysfunctional factor, not providedPathogenic
(Jan 5, 2017)
criteria provided, single submitter
61.
GRCh37:
Chr11:57381948
GRCh38:
Chr11:57614475
SERPING1not providedPathogenic
(Apr 28, 2017)
criteria provided, single submitter
62.
GRCh37:
Chr11:57381948
GRCh38:
Chr11:57614475
SERPING1not providednot providedno assertion provided
63.
GRCh37:
Chr11:57381948
GRCh38:
Chr11:57614475
SERPING1Hereditary C1 esterase inhibitor deficiency - dysfunctional factor, not providedPathogenic
(Jan 24, 2017)
criteria provided, single submitter
64.
GRCh37:
Chr11:57381969
GRCh38:
Chr11:57614496
SERPING1not providednot providedno assertion provided
65.
GRCh37:
Chr11:57381989
GRCh38:
Chr11:57614516
SERPING1not specified, Hereditary AngioedemaBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr11:57382026
GRCh38:
Chr11:57614553
SERPING1AngioedemaLikely pathogenicno assertion criteria provided
67.
GRCh37:
Chr11:57382041
GRCh38:
Chr11:57614568
SERPING1not providednot providedno assertion provided
68.
GRCh37:
Chr11:55086995-58766250
GRCh38:
Chr11:55319519-58998777
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
69.
GRCh37:
Chr11:57139699-57703639
GRCh38:
Chr11:57372226-57936167
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
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