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Links from MedGen

Items: 68

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr11:75277513
GRCh38:
Chr11:75566468
SERPINH1A39V, A40VOsteogenesis imperfecta type 10Uncertain significance
(Mar 8, 2022)		criteria provided, single submitter
2.
GRCh37:
Chr11:75282891
GRCh38:
Chr11:75571846
SERPINH1M339I, M340IOsteogenesis imperfecta type 10Uncertain significance
(Jun 8, 2022)		criteria provided, single submitter
3.
GRCh37:
Chr11:75278040-75278041
GRCh38:
Chr11:75566995-75566996
SERPINH1Osteogenesis imperfecta type 10, not providedBenign
(Jul 15, 2021)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr11:75280101
GRCh38:
Chr11:75569056
SERPINH1R280Hnot provided, Osteogenesis imperfecta type 10Uncertain significance
(May 7, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr11:75283796
GRCh38:
Chr11:75572751
SERPINH1Osteogenesis imperfecta type 10Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
6.
GRCh37:
Chr11:75283664
GRCh38:
Chr11:75572619
SERPINH1Osteogenesis imperfecta type 10Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
7.
GRCh37:
Chr11:75277982
GRCh38:
Chr11:75566937
SERPINH1Osteogenesis imperfecta type 10Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
8.
GRCh37:
Chr11:75283281
GRCh38:
Chr11:75572236
SERPINH1Osteogenesis imperfecta type 10Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
9.
GRCh37:
Chr11:75283245
GRCh38:
Chr11:75572200
SERPINH1Osteogenesis imperfecta type 10Likely benign
(Jan 12, 2018)		criteria provided, single submitter
10.
GRCh37:
Chr11:75283202
GRCh38:
Chr11:75572157
SERPINH1Osteogenesis imperfecta type 10Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
11.
GRCh37:
Chr11:75277733
GRCh38:
Chr11:75566688
SERPINH1E113DOsteogenesis imperfecta type 10Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
12.
GRCh37:
Chr11:75283201
GRCh38:
Chr11:75572156
SERPINH1Osteogenesis imperfecta type 10Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
13.
GRCh37:
Chr11:75283049
GRCh38:
Chr11:75572004
SERPINH1R393QOsteogenesis imperfecta type 10Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
14.
GRCh37:
Chr11:75283023
GRCh38:
Chr11:75571978
SERPINH1not provided, Osteogenesis imperfecta type 10Conflicting interpretations of pathogenicity
(May 27, 2022)		criteria provided, conflicting interpretations
15.
GRCh37:
Chr11:75282930
GRCh38:
Chr11:75571885
SERPINH1not provided, Osteogenesis imperfecta type 10Conflicting interpretations of pathogenicity
(Mar 27, 2022)		criteria provided, conflicting interpretations
16.
GRCh37:
Chr11:75282913
GRCh38:
Chr11:75571868
SERPINH1Osteogenesis imperfecta type 10Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
17.
GRCh37:
Chr11:75277533
GRCh38:
Chr11:75566488
SERPINH1S47GOsteogenesis imperfecta type 10Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
18.
GRCh37:
Chr11:75277452
GRCh38:
Chr11:75566407
SERPINH1E20KOsteogenesis imperfecta type 10Uncertain significance
(Feb 2, 2018)		criteria provided, single submitter
19.
GRCh37:
Chr11:75277554
GRCh38:
Chr11:75566509
SERPINH1Osteogenesis imperfecta type 10, not providedConflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
20.
GRCh37:
Chr11:75282990
GRCh38:
Chr11:75571945
SERPINH1not specified, not provided, Osteogenesis imperfecta type 10
Conflicting interpretations of pathogenicity
(Oct 8, 2022)		criteria provided, conflicting interpretations
21.
GRCh37:
Chr11:75280180
GRCh38:
Chr11:75569135
SERPINH1L306fsOsteogenesis imperfecta type 10Uncertain significance
(Oct 10, 2018)		criteria provided, single submitter
22.
GRCh37:
Chr11:75283103-75283104
GRCh38:
Chr11:75572058-75572059
SERPINH1D412*Osteogenesis imperfecta type 10Pathogenic
(Sep 23, 2018)		no assertion criteria provided
23.
GRCh37:
Chr11:75265452-75270725
GRCh38:
Chr11:75554407-75559680
LOC110121439, LOC116216154, LOC116216155, SERPINH1Osteogenesis imperfecta type 10Pathogenic
(Sep 23, 2018)		no assertion criteria provided
24.
GRCh37:
Chr11:75283085
GRCh38:
Chr11:75572040
SERPINH1R405HOsteogenesis imperfecta type 10Uncertain significance
(May 24, 2018)		no assertion criteria provided
25.
GRCh37:
Chr11:75277959
GRCh38:
Chr11:75566914
SERPINH1T189Anot provided, Osteogenesis imperfecta type 10Conflicting interpretations of pathogenicity
(Aug 16, 2022)		criteria provided, conflicting interpretations
26.
GRCh37:
Chr11:75283796
GRCh38:
Chr11:75572751
SERPINH1Osteogenesis imperfecta type 10Likely benign
(Jan 13, 2018)		criteria provided, single submitter
27.
GRCh37:
Chr11:75283708
GRCh38:
Chr11:75572663
SERPINH1Osteogenesis imperfecta type 10Benign
(Jan 13, 2018)		criteria provided, single submitter
28.
GRCh37:
Chr11:75283684
GRCh38:
Chr11:75572639
SERPINH1Osteogenesis imperfecta type 10Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
29.
GRCh37:
Chr11:75283659
GRCh38:
Chr11:75572614
SERPINH1Osteogenesis imperfecta type 10Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
30.
GRCh37:
Chr11:75283653
GRCh38:
Chr11:75572608
SERPINH1Osteogenesis imperfecta type 10Benign
(Jan 13, 2018)		criteria provided, single submitter
31.
GRCh37:
Chr11:75283639
GRCh38:
Chr11:75572594
SERPINH1Osteogenesis imperfecta type 10Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
32.
GRCh37:
Chr11:75283618
GRCh38:
Chr11:75572573
SERPINH1Osteogenesis imperfecta type 10Benign
(Jan 13, 2018)		criteria provided, single submitter
33.
GRCh37:
Chr11:75283482
GRCh38:
Chr11:75572437
SERPINH1Osteogenesis imperfecta type 10Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
34.
GRCh37:
Chr11:75283356
GRCh38:
Chr11:75572311
SERPINH1Osteogenesis imperfecta type 10Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
35.
GRCh37:
Chr11:75283307
GRCh38:
Chr11:75572262
SERPINH1Osteogenesis imperfecta type 10Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
36.
GRCh37:
Chr11:75283253
GRCh38:
Chr11:75572208
SERPINH1not provided, Osteogenesis imperfecta type 10Benign
(Jun 19, 2018)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr11:75283132
GRCh38:
Chr11:75572087
SERPINH1Osteogenesis imperfecta, not provided, Osteogenesis imperfecta type 10
Uncertain significance
(Jun 25, 2021)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr11:75283079
GRCh38:
Chr11:75572034
SERPINH1I403TInborn genetic diseases, Osteogenesis imperfecta type 10Uncertain significance
(Apr 6, 2023)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr11:75282887
GRCh38:
Chr11:75571842
SERPINH1R339HOsteogenesis imperfecta type 10Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
40.
GRCh37:
Chr11:75282882
GRCh38:
Chr11:75571837
SERPINH1not specified, not provided, Osteogenesis imperfecta type 10
Benign
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr11:75282820
GRCh38:
Chr11:75571775
SERPINH1not specified, Osteogenesis imperfecta type 10, Osteogenesis imperfecta,
not provided		Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr11:75280085
GRCh38:
Chr11:75569040
SERPINH1V275Mnot provided, Osteogenesis imperfecta type 10Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr11:75280069
GRCh38:
Chr11:75569024
SERPINH1Osteogenesis imperfecta type 10Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
44.
GRCh37:
Chr11:75279846
GRCh38:
Chr11:75568801
SERPINH1not specified, Osteogenesis imperfecta type 10, not provided
Benign
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr11:75277994
GRCh38:
Chr11:75566949
SERPINH1Osteogenesis imperfecta type 10, not providedConflicting interpretations of pathogenicity
(Apr 6, 2021)		criteria provided, conflicting interpretations
46.
GRCh37:
Chr11:75277992
GRCh38:
Chr11:75566947
SERPINH1not specified, Osteogenesis imperfecta type 10, not provided
Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr11:75277967
GRCh38:
Chr11:75566922
SERPINH1D191EOsteogenesis imperfecta type 10, not providedUncertain significance
(Jul 29, 2022)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr11:75277886
GRCh38:
Chr11:75566841
SERPINH1Osteogenesis imperfecta type 10, not providedConflicting interpretations of pathogenicity
(Aug 8, 2022)		criteria provided, conflicting interpretations
49.
GRCh37:
Chr11:75277880
GRCh38:
Chr11:75566835
SERPINH1N162KOsteogenesis imperfecta type 10Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
50.
GRCh37:
Chr11:75277875
GRCh38:
Chr11:75566830
SERPINH1I161Lnot provided, Osteogenesis imperfecta type 10, Inborn genetic diseases,
Osteogenesis imperfecta		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
51.
GRCh37:
Chr11:75277874
GRCh38:
Chr11:75566829
SERPINH1K160NOsteogenesis imperfecta type 10Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
52.
GRCh37:
Chr11:75277730
GRCh38:
Chr11:75566685
SERPINH1Osteogenesis imperfecta type 10, not providedUncertain significance
(Mar 11, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr11:75277692
GRCh38:
Chr11:75566647
SERPINH1E100KOsteogenesis imperfecta type 10, not providedConflicting interpretations of pathogenicity
(Oct 7, 2022)		criteria provided, conflicting interpretations
54.
GRCh37:
Chr11:75277376
GRCh38:
Chr11:75566331
SERPINH1not specified, Osteogenesis imperfecta type 10Benign
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr11:75273326
GRCh38:
Chr11:75562281
SERPINH1Osteogenesis imperfecta type 10Benign
(Jan 13, 2018)		criteria provided, single submitter
56.
GRCh37:
Chr11:75273214
GRCh38:
Chr11:75562169
SERPINH1Osteogenesis imperfecta type 10Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
57.
GRCh37:
Chr11:75273210
GRCh38:
Chr11:75562165
SERPINH1Osteogenesis imperfecta type 10Benign
(Jan 12, 2018)		criteria provided, single submitter
58.
GRCh37:
Chr11:75273208
GRCh38:
Chr11:75562163
SERPINH1Osteogenesis imperfecta type 10Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
59.
GRCh37:
Chr11:75273188
GRCh38:
Chr11:75562143
SERPINH1Osteogenesis imperfecta type 10Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
60.
GRCh37:
Chr11:75277486
GRCh38:
Chr11:75566441
SERPINH1G31AOsteogenesis imperfecta type 10, not providedConflicting interpretations of pathogenicity
(Oct 21, 2022)		criteria provided, conflicting interpretations
61.
GRCh37:
Chr11:75277661
GRCh38:
Chr11:75566616
SERPINH1not specified, not provided, Osteogenesis imperfecta type 10
Benign/Likely benign
(Oct 23, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr11:75279863
GRCh38:
Chr11:75568818
SERPINH1M237TOsteogenesis imperfecta type 10, not providedConflicting interpretations of pathogenicity
(Oct 1, 2022)		criteria provided, conflicting interpretations
63.
GRCh37:
Chr11:75280006
GRCh38:
Chr11:75568961
SERPINH1not specified, not provided, Osteogenesis imperfecta type 10,
Osteogenesis imperfecta		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
64.
GRCh37:
Chr11:75279883
GRCh38:
Chr11:75568838
SERPINH1not specified, not provided, Osteogenesis imperfecta type 10,
Osteogenesis imperfecta		Conflicting interpretations of pathogenicity
(Oct 18, 2022)		criteria provided, conflicting interpretations
65.
GRCh37:
Chr11:75277974
GRCh38:
Chr11:75566929
SERPINH1R194SOsteogenesis imperfecta type 10, Preterm premature rupture of membranes, not provided,
Osteogenesis imperfecta type 10		Conflicting interpretations of pathogenicity
(Dec 21, 2022)		criteria provided, conflicting interpretations
66.
GRCh37:
Chr11:75277628
GRCh38:
Chr11:75566583
SERPINH1not specified, not provided, Osteogenesis imperfecta type 10
Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr11:75277757
GRCh38:
Chr11:75566712
SERPINH1not provided, not specified, Osteogenesis imperfecta type 10
Benign
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr11:75277627
GRCh38:
Chr11:75566582
SERPINH1L78POsteogenesis imperfecta type 10Pathogenic
(Mar 12, 2010)		no assertion criteria provided
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