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Items: 1 to 100 of 148

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:45408836
GRCh38:
Chr19:44905579
APOEWarfarin responsedrug response
(Aug 31, 2010)
no assertion criteria provided
2.
GRCh37:
Chr19:45408836
GRCh38:
Chr19:44905579
APOECoronary artery disease, severe, susceptibility torisk factor
(Jun 1, 2003)
no assertion criteria provided
3.
GRCh37:
Chr19:45409167
GRCh38:
Chr19:44905910
APOEN14Knot specifiedBenignno assertion criteria provided
4.
GRCh37:
Chr19:45409180
GRCh38:
Chr19:44905923
APOED19NAlzheimer disease 2Uncertain significance
(Sep 2, 2020)
criteria provided, single submitter
5.
GRCh37:
Chr19:45409579
GRCh38:
Chr19:44906322
APOEnot providedLikely benign
(Jun 21, 2021)
criteria provided, single submitter
6.
GRCh37:
Chr19:45409903
GRCh38:
Chr19:44906646
APOECardiovascular phenotypeLikely benign
(May 4, 2020)
criteria provided, single submitter
7.
GRCh37:
Chr19:45409912
GRCh38:
Chr19:44906655
APOET11A, T37AFamilial type 3 hyperlipoproteinemia, Lipoprotein glomerulopathyUncertain significance
(Apr 9, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr19:45410002
GRCh38:
Chr19:44906745
APOEnot providedBenign
(Aug 30, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr19:45410444
GRCh38:
Chr19:44907187
APOEWarfarin responsedrug response
(Aug 31, 2010)
no assertion criteria provided
10.
GRCh37:
Chr19:45411034
GRCh38:
Chr19:44907777
APOEE21K, E47KHYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5Pathogenic
(Aug 1, 1995)
no assertion criteria provided
11.
GRCh37:
Chr19:45411042
GRCh38:
Chr19:44907785
APOECardiovascular phenotype, Sea-blue histiocyte syndrome, Age related macular degeneration 1,
Lipoprotein glomerulopathy, Alzheimer disease 4, Familial type 3 hyperlipoproteinemia,
Alzheimer disease 3, Alzheimer disease 2
Likely benign
(Dec 17, 2021)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr19:45411063
GRCh38:
Chr19:44907806
APOECardiovascular phenotypeLikely benign
(Apr 4, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr19:45411064
GRCh38:
Chr19:44907807
APOEE31K, E57Knot providedLikely benign
(May 24, 2019)
criteria provided, single submitter
14.
GRCh37:
Chr19:45411081
GRCh38:
Chr19:44907824
APOEnot providedLikely benign
(Jun 15, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr19:45411087
GRCh38:
Chr19:44907830
APOEW38*, W64*not providedUncertain significance
(Mar 10, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr19:45411093
GRCh38:
Chr19:44907836
APOECardiovascular phenotype, not providedLikely benign
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr19:45411098
GRCh38:
Chr19:44907841
APOEQ42P, Q68PCardiovascular phenotypeUncertain significance
(Sep 26, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr19:45411100
GRCh38:
Chr19:44907843
APOER43C, R69CLipoprotein glomerulopathy, Familial type 3 hyperlipoproteinemia, Sea-blue histiocyte syndrome,
Alzheimer disease 4, Alzheimer disease 2, Alzheimer disease 3,
Age related macular degeneration 1, Lipoprotein glomerulopathy
Likely pathogenic
(Feb 24, 2022)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr19:45411110
GRCh38:
Chr19:44907853
APOEL46P, L72PAlzheimer disease 4, Cardiovascular phenotype, not provided
Conflicting interpretations of pathogenicity
(Jun 1, 2022)
criteria provided, conflicting interpretations
20.
GRCh37:
Chr19:45411111
GRCh38:
Chr19:44907854
APOECardiovascular phenotypeLikely benign
(Sep 17, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr19:45411117
GRCh38:
Chr19:44907860
APOEG49fs, G75fsFamilial type 3 hyperlipoproteinemiaPathogenic
(Sep 1, 1992)
no assertion criteria provided
22.
GRCh37:
Chr19:45411121
GRCh38:
Chr19:44907864
APOER50S, R76Snot providedUncertain significance
(Aug 15, 2017)
criteria provided, single submitter
23.
GRCh37:
Chr19:45411140
GRCh38:
Chr19:44907883
APOER56H, R82HCardiovascular phenotype, not providedUncertain significance
(Apr 19, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr19:45411151
GRCh38:
Chr19:44907894
APOET60A, T86AAPOE3(-)-FREIBURGPathogenic
(Aug 5, 2016)
no assertion criteria provided
25.
GRCh37:
Chr19:45411183
GRCh38:
Chr19:44907926
APOECardiovascular phenotypeLikely benign
(Apr 19, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr19:45411187
GRCh38:
Chr19:44907930
APOES98A, S72ACardiovascular phenotypeUncertain significance
(Aug 30, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr19:45411771-45411774
GRCh38:
Chr19:44908514-44908517
APOEnot providedLikely benign
(Dec 21, 2021)
criteria provided, single submitter
28.
GRCh37:
Chr19:45411788
GRCh38:
Chr19:44908531
APOEFamilial type 3 hyperlipoproteinemiaPathogenic
(Feb 15, 1987)
no assertion criteria provided
29.
GRCh37:
Chr19:45411802
GRCh38:
Chr19:44908545
APOEAge related macular degeneration 1, Familial type 3 hyperlipoproteinemia, Sea-blue histiocyte syndrome,
Lipoprotein glomerulopathy, Alzheimer disease 4, Alzheimer disease 3,
Alzheimer disease 2, Cardiovascular phenotype, not provided
Likely benign
(Jan 4, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr19:45411832
GRCh38:
Chr19:44908575
APOECardiovascular phenotypeLikely benign
(Sep 22, 2019)
criteria provided, single submitter
31.
GRCh37:
Chr19:45411834
GRCh38:
Chr19:44908577
APOES120W, S94WCardiovascular phenotypeUncertain significance
(Feb 20, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr19:45411844
GRCh38:
Chr19:44908587
APOEE124fs, E98fsnot providednot providedno assertion provided
33.
GRCh37:
Chr19:45411849
GRCh38:
Chr19:44908592
APOEQ99R, Q125RCardiovascular phenotypeUncertain significance
(Mar 24, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr19:45411858
GRCh38:
Chr19:44908601
APOEP102R, P128Rno interpretation for the single variantno interpretation for the single variant
35.
GRCh37:
Chr19:45411859
GRCh38:
Chr19:44908602
APOECardiovascular phenotypeLikely benign
(Jan 2, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr19:45411859
GRCh38:
Chr19:44908602
APOECardiovascular phenotypeLikely benign
(Apr 9, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr19:45411863
GRCh38:
Chr19:44908606
APOEA130T, A104TCardiovascular phenotypeUncertain significance
(Feb 21, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr19:45411865
GRCh38:
Chr19:44908608
APOECardiovascular phenotypeLikely benign
(Feb 4, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr19:45411888
GRCh38:
Chr19:44908631
APOES112Y, S138Ynot providedUncertain significance
(Jul 20, 2019)
criteria provided, single submitter
40.
GRCh37:
Chr19:45411902
GRCh38:
Chr19:44908645
APOEA117T, A143Tno interpretation for the single variantno interpretation for the single variant
41.
GRCh37:
Chr19:45411907
GRCh38:
Chr19:44908650
APOECardiovascular phenotypeLikely benign
(Feb 2, 2020)
criteria provided, single submitter
42.
GRCh37:
Chr19:45411909
GRCh38:
Chr19:44908652
APOEQ119P, Q145Pnot provided, Cardiovascular phenotypeUncertain significance
(May 30, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr19:45411915
GRCh38:
Chr19:44908658
APOER147Q, R121QCardiovascular phenotypeUncertain significance
(Mar 11, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr19:45411917
GRCh38:
Chr19:44908660
APOEL122M, L148MMajor depressive disordernot provided
(Jul 4, 2012)
no assertion provided
45.
GRCh37:
Chr19:45411934
GRCh38:
Chr19:44908677
APOEnot provided, Cardiovascular phenotypeLikely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr19:45411941
GRCh38:
Chr19:44908684
APOEno interpretation for the single variantno interpretation for the single variant
47.
GRCh37:
Chr19:45411941
Chr19:45411858
GRCh38:
Chr19:44908684
Chr19:44908601
APOE, APOEC130R, C156R, P102R, P128RAPOE5 VARIANTassociation
(Nov 22, 2019)
no assertion criteria provided
48.
GRCh37:
Chr19:45411941
Chr19:45411110
GRCh38:
Chr19:44908684
Chr19:44907853
APOE, APOEC130R, C156R, L46P, L72PFamilial hypercholesterolemia, APOE4(-)-FREIBURGPathogenic/Likely pathogenic
(May 27, 2020)
no assertion criteria provided
49.
GRCh37:
Chr19:45411941
Chr19:45412358
GRCh38:
Chr19:44908684
Chr19:44909101
APOE, APOEC130R, C156R, R269G, R295GFamilial type 3 hyperlipoproteinemiaPathogenic
(May 1, 1993)
no assertion criteria provided
50.
GRCh37:
Chr19:45411941
Chr19:45412031
GRCh38:
Chr19:44908684
Chr19:44908774
APOE, APOEC130R, C156R, R160C, R186CFamilial type 3 hyperlipoproteinemiaPathogenic
(Feb 14, 2017)
no assertion criteria provided
51.
GRCh37:
Chr19:45411941
GRCh38:
Chr19:44908684
APOEC130R, C156RPrimary degenerative dementia of the Alzheimer type, presenile onset, Lipoprotein glomerulopathy, Alzheimer disease 4,
not provided, Alzheimer disease
Conflicting interpretations of pathogenicity; other; risk factor
(Oct 1, 2022)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr19:45411947
GRCh38:
Chr19:44908690
APOER132C, R158Cnot providedUncertain significance
(Jan 13, 2020)
criteria provided, single submitter
53.
GRCh37:
Chr19:45411963-45411964
GRCh38:
Chr19:44908706-44908707
APOEFamilial type 3 hyperlipoproteinemiaPathogenic
(Apr 1, 2004)
no assertion criteria provided
54.
GRCh37:
Chr19:45411975
GRCh38:
Chr19:44908718
APOEQ141R, Q167RHyperlipoproteinemia, Familial hypercholesterolemia, Familial type 3 hyperlipoproteinemia
Uncertain significance
(May 27, 2020)
no assertion criteria provided
55.
GRCh37:
Chr19:45411985
GRCh38:
Chr19:44908728
APOECardiovascular phenotypeLikely benign
(Jun 22, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr19:45411987
GRCh38:
Chr19:44908730
APOEG145D, G171DHypercholesterolemia, Alzheimer disease 3, Alzheimer disease 2,
Alzheimer disease 4, Age related macular degeneration 1, Familial type 3 hyperlipoproteinemia,
Sea-blue histiocyte syndrome, Lipoprotein glomerulopathy
Uncertain significance
(Mar 14, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr19:45411997
GRCh38:
Chr19:44908740
APOECardiovascular phenotypeLikely benign
(Feb 14, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr19:45412004
GRCh38:
Chr19:44908747
APOEL151M, L177MMajor depressive disordernot provided
(Jan 13, 2012)
no assertion provided
59.
GRCh37:
Chr19:45412008
GRCh38:
Chr19:44908751
APOER152Q, R178QAPOE2 VARIANTPathogenic
(Aug 1, 1991)
no assertion criteria provided
60.
GRCh37:
Chr19:45412009
GRCh38:
Chr19:44908752
APOECardiovascular phenotypeLikely benign
(Jun 1, 2019)
criteria provided, single submitter
61.
GRCh37:
Chr19:45412013
Chr19:45412079
Chr19:45411941
GRCh38:
Chr19:44908756
Chr19:44908822
Chr19:44908684
APOE, APOE, APOER154S, R180SAlzheimer disease 3, protection against, due to APOE3-Christchurchprotective
(Nov 25, 2019)
no assertion criteria provided
62.
GRCh37:
Chr19:45412013
GRCh38:
Chr19:44908756
APOER154S, R180SFamilial type 3 hyperlipoproteinemiaPathogenic
(Nov 1, 1988)
no assertion criteria provided
63.
GRCh37:
Chr19:45412014
GRCh38:
Chr19:44908757
APOER154L, R180LAbnormal circulating lipid concentrationLikely pathogenic
(Dec 21, 2015)
criteria provided, single submitter
64.
GRCh37:
Chr19:45412031
GRCh38:
Chr19:44908774
APOER160C, R186Cno interpretation for the single variantno interpretation for the single variant
65.
GRCh37:
Chr19:45412040
Chr19:45411064
GRCh38:
Chr19:44908783
Chr19:44907807
APOE, APOER163C, R189C, E31K, E57KFamilial type 3 hyperlipoproteinemiaPathogenic
(Nov 1, 1992)
no assertion criteria provided
66.
GRCh37:
Chr19:45412040
GRCh38:
Chr19:44908783
APOER163C, R189CCardiovascular phenotype, not provided, not specified
Conflicting interpretations of pathogenicity
(Feb 15, 2021)
criteria provided, conflicting interpretations
67.
GRCh37:
Chr19:45412041
GRCh38:
Chr19:44908784
APOER163L, R189LLipoprotein glomerulopathyUncertain significance
(May 22, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr19:45412041
GRCh38:
Chr19:44908784
APOER163P, R189PLipoprotein glomerulopathyPathogenic
(Oct 6, 2000)
no assertion criteria provided
69.
GRCh37:
Chr19:45412041
GRCh38:
Chr19:44908784
APOER163H, R189HLipoprotein glomerulopathyLikely pathogenic
(May 22, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr19:45412042
GRCh38:
Chr19:44908785
APOECardiovascular phenotypeLikely benign
(Oct 12, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr19:45412043
GRCh38:
Chr19:44908786
APOEK164Q, K190QHyperlipoproteinemia, type III, due to APOE2Pathogenic
(Jan 1, 1990)
no assertion criteria provided
72.
GRCh37:
Chr19:45412043
GRCh38:
Chr19:44908786
APOEK164E, K190EFamilial type 3 hyperlipoproteinemiaPathogenic
(Aug 1, 1995)
no assertion criteria provided
73.
GRCh37:
Chr19:45412047
GRCh38:
Chr19:44908790
APOER165P, R191PLipoprotein glomerulopathyLikely pathogeniccriteria provided, single submitter
74.
GRCh37:
Chr19:45412049-45412051
GRCh38:
Chr19:44908792-44908794
APOEL167del, L193delCardiovascular phenotypePathogenic
(Dec 19, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr19:45412061
GRCh38:
Chr19:44908804
APOEA170P, A196Pno interpretation for the single variantno interpretation for the single variant
76.
GRCh37:
Chr19:45412061
Chr19:45411902
GRCh38:
Chr19:44908804
Chr19:44908645
APOE, APOEA170P, A196P, A117T, A143TAPOE3 VARIANTPathogenic
(May 25, 1984)
no assertion criteria provided
77.
GRCh37:
Chr19:45412079
GRCh38:
Chr19:44908822
APOEno interpretation for the single variantno interpretation for the single variant
78.
GRCh37:
Chr19:45412079
Chr19:45412314
GRCh38:
Chr19:44908822
Chr19:44909057
APOE, APOER176C, R202C, V254E, V280EFamilial type 3 hyperlipoproteinemiaPathogenic
(May 1, 1993)
no assertion criteria provided
79.
GRCh37:
Chr19:45412079
Chr19:45412278
GRCh38:
Chr19:44908822
Chr19:44909021
APOE, APOER176C, R202C, R268QFamilial type 3 hyperlipoproteinemiaPathogenic
(Feb 21, 2017)
no assertion criteria provided
80.
GRCh37:
Chr19:45412079
Chr19:45411987
GRCh38:
Chr19:44908822
Chr19:44908730
APOE, APOER176C, R202C, G145D, G171DHyperlipoproteinemia due to APOE1Pathogenic
(Apr 1, 1984)
no assertion criteria provided
81.
GRCh37:
Chr19:45412079
Chr19:45411941
GRCh38:
Chr19:44908822
Chr19:44908684
APOE, APOEAPOE3 ISOFORMPathogenic
(Sep 10, 1981)
no assertion criteria provided
82.
GRCh37:
Chr19:45412079
GRCh38:
Chr19:44908822
APOER176C, R202Catorvastatin response - Efficacydrug response
(Mar 24, 2021)
reviewed by expert panel
83.
GRCh37:
Chr19:45412090
GRCh38:
Chr19:44908833
APOECardiovascular phenotypeLikely benign
(Mar 17, 2020)
criteria provided, single submitter
84.
GRCh37:
Chr19:45412095
GRCh38:
Chr19:44908838
APOEQ181L, Q207LCardiovascular phenotypeUncertain significance
(Apr 19, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr19:45412099
GRCh38:
Chr19:44908842
APOECardiovascular phenotypeLikely benign
(Jul 23, 2019)
criteria provided, single submitter
86.
GRCh37:
Chr19:45412101
GRCh38:
Chr19:44908844
APOEG183A, G209AFamilial type 3 hyperlipoproteinemiaLikely pathogenic
(Feb 15, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr19:45412105
GRCh38:
Chr19:44908848
APOECardiovascular phenotypeLikely benign
(Oct 6, 2020)
criteria provided, single submitter
88.
GRCh37:
Chr19:45412108
GRCh38:
Chr19:44908851
APOECardiovascular phenotypeLikely benign
(Feb 20, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr19:45412141
GRCh38:
Chr19:44908884
APOECardiovascular phenotypeLikely benign
(Aug 3, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr19:45412144
GRCh38:
Chr19:44908887
APOECardiovascular phenotypeLikely benign
(Dec 5, 2020)
criteria provided, single submitter
91.
GRCh37:
Chr19:45412151
GRCh38:
Chr19:44908894
APOEG200R, G226RCardiovascular phenotypeUncertain significance
(Feb 4, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr19:45412168
GRCh38:
Chr19:44908911
APOECardiovascular phenotypeLikely benign
(Oct 11, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr19:45412174
GRCh38:
Chr19:44908917
APOECardiovascular phenotypeLikely benign
(Dec 3, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr19:45412176
GRCh38:
Chr19:44908919
APOEV208G, V234GCardiovascular phenotypeUncertain significance
(Nov 19, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr19:45412180
GRCh38:
Chr19:44908923
APOECardiovascular phenotypeLikely benign
(Jan 10, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr19:45412191
GRCh38:
Chr19:44908934
APOEV239G, V213GCardiovascular phenotypeUncertain significance
(Sep 5, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr19:45412192
GRCh38:
Chr19:44908935
APOEnot provided, Cardiovascular phenotypeLikely benign
(Sep 5, 2022)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr19:45412193
GRCh38:
Chr19:44908936
APOEG214S, G240SCardiovascular phenotypeUncertain significance
(Sep 26, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr19:45412204
GRCh38:
Chr19:44908947
APOECardiovascular phenotype, not provided, Alzheimer disease 3,
Alzheimer disease 2, Alzheimer disease 4, Lipoprotein glomerulopathy,
Familial type 3 hyperlipoproteinemia, Age related macular degeneration 1, Sea-blue histiocyte syndrome
Benign/Likely benign
(May 1, 2022)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr19:45412225
GRCh38:
Chr19:44908968
APOECardiovascular phenotypeLikely benign
(Aug 2, 2020)
criteria provided, single submitter
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