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Items: 1 to 100 of 249

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
PSEN1Acne inversa, familial, 3Pathogenic
(Nov 19, 2010)
no assertion criteria provided
2.
PSEN1Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaquesPathogenic
(Mar 1, 2005)
no assertion criteria provided
3.
PSEN1Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaquesPathogenic
(May 25, 2004)
no assertion criteria provided
4.
PSEN1Alzheimer disease, type 3Pathogenic
(Aug 1, 1999)
no assertion criteria provided
5.
PSEN1Alzheimer disease, type 3, Alzheimer disease, familial, with spastic paraparesis and unusual plaquesPathogenic
(Mar 14, 2000)
no assertion criteria provided
6.
GRCh37:
Chr14:73603131
GRCh38:
Chr14:73136423
PSEN1Early-Onset Familial Alzheimer Disease, Dilated Cardiomyopathy, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr14:73603186
GRCh38:
Chr14:73136478
PSEN1Early-Onset Familial Alzheimer Disease, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr14:73603201
GRCh38:
Chr14:73136493
PSEN1Early-Onset Familial Alzheimer Disease, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr14:73603213
GRCh38:
Chr14:73136505
PSEN1Early-Onset Familial Alzheimer Disease, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr14:73603236
GRCh38:
Chr14:73136528
PSEN1Early-Onset Familial Alzheimer Disease, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr14:73603247
GRCh38:
Chr14:73136539
PSEN1Early-Onset Familial Alzheimer Disease, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr14:73614748
GRCh38:
Chr14:73148040
PSEN1Early-Onset Familial Alzheimer Disease, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr14:73614806
GRCh38:
Chr14:73148098
PSEN1Early-Onset Familial Alzheimer Disease, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr14:73152115-77698582
Ventricular septal defect, Intellectual disability, mild, Multiple skeletal anomalies,
Aplasia/Hypoplasia of the thumb
Likely pathogenic
(Oct 1, 2014)
no assertion criteria provided
15.
GRCh37:
Chr14:73637521
GRCh38:
Chr14:73170813
PSEN1Alzheimer's disease, not providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitter
16.
GRCh37:
Chr14:73637653
GRCh38:
Chr14:73170945
PSEN1Alzheimer disease, type 3, not providedPathogenic
(Dec 23, 2010)
no assertion criteria provided
17.
GRCh37:
Chr14:73637661
GRCh38:
Chr14:73170953
PSEN1not providednot providedno assertion provided
18.
GRCh37:
Chr14:73637664-73637669
GRCh38:
Chr14:73170956-73170961
PSEN1not providednot providedno assertion provided
19.
GRCh37:
Chr14:73637671
GRCh38:
Chr14:73170963
PSEN1Alzheimer disease, familial, 3, with spastic paraparesis and apraxia, not providedPathogenic
(Nov 1, 2004)
no assertion criteria provided
20.
GRCh37:
Chr14:73637682
GRCh38:
Chr14:73170974
PSEN1Alzheimer disease, type 3, not providedPathogenic
(Dec 23, 2010)
no assertion criteria provided
21.
GRCh37:
Chr14:73637692
GRCh38:
Chr14:73170984
PSEN1Alzheimer disease, type 3, not providedPathogenic
(Oct 14, 2000)
no assertion criteria provided
22.
GRCh37:
Chr14:73637697
GRCh38:
Chr14:73170989
PSEN1not providednot providedno assertion provided
23.
GRCh37:
Chr14:73637703
GRCh38:
Chr14:73170995
PSEN1not providednot providedno assertion provided
24.
GRCh37:
Chr14:73637706
GRCh38:
Chr14:73170998
PSEN1not providednot providedno assertion provided
25.
GRCh37:
Chr14:73637730
GRCh38:
Chr14:73171022
PSEN1not providednot providedno assertion provided
26.
GRCh37:
Chr14:73637731
GRCh38:
Chr14:73171023
PSEN1Mental deterioration, DementiaPathogenic
(Feb 6, 2015)
criteria provided, single submitter
27.
GRCh37:
Chr14:73637732
GRCh38:
Chr14:73171024
PSEN1not providednot providedno assertion provided
28.
GRCh37:
Chr14:73637739
GRCh38:
Chr14:73171031
PSEN1not providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitter
29.
GRCh37:
Chr14:73637754
GRCh38:
Chr14:73171046
PSEN1Early-Onset Familial Alzheimer Disease, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr14:73637755
GRCh38:
Chr14:73171047
PSEN1Alzheimer disease, type 3, Frontotemporal dementia, not provided
Pathogenic
(Dec 23, 2010)
no assertion criteria provided
31.
GRCh37:
Chr14:73637756
GRCh38:
Chr14:73171048
PSEN1not providednot providedno assertion provided
32.
GRCh37:
Chr14:73640278
GRCh38:
Chr14:73173570
PSEN1not providednot providedno assertion provided
33.
GRCh37:
Chr14:73640279
GRCh38:
Chr14:73173571
PSEN1not providednot providedno assertion provided
34.
GRCh37:
Chr14:73640282
GRCh38:
Chr14:73173574
PSEN1not providednot providedno assertion provided
35.
GRCh37:
Chr14:73640284
GRCh38:
Chr14:73173576
PSEN1not providednot providedno assertion provided
36.
GRCh37:
Chr14:73640285
GRCh38:
Chr14:73173577
PSEN1not providednot providedno assertion provided
37.
GRCh37:
Chr14:73640293
GRCh38:
Chr14:73173585
PSEN1not providednot providedno assertion provided
38.
GRCh37:
Chr14:73640295
GRCh38:
Chr14:73173587
PSEN1Alzheimer disease, type 3, not providedPathogenic
(Dec 1, 1996)
no assertion criteria provided
39.
GRCh37:
Chr14:73640302
GRCh38:
Chr14:73173594
PSEN1not providednot providedno assertion provided
40.
GRCh37:
Chr14:73640338
GRCh38:
Chr14:73173630
PSEN1not providednot providedno assertion provided
41.
GRCh37:
Chr14:73640339
GRCh38:
Chr14:73173631
PSEN1not providednot providedno assertion provided
42.
GRCh37:
Chr14:73640350
GRCh38:
Chr14:73173642
PSEN1Alzheimer disease, type 3, not providedPathogenic
(Dec 23, 2010)
no assertion criteria provided
43.
GRCh37:
Chr14:73640351
GRCh38:
Chr14:73173643
PSEN1not providednot providedno assertion provided
44.
GRCh37:
Chr14:73640352
GRCh38:
Chr14:73173644
PSEN1not providednot providedno assertion provided
45.
GRCh37:
Chr14:73640362
GRCh38:
Chr14:73173654
PSEN1not providednot providedno assertion provided
46.
GRCh37:
Chr14:73640363
GRCh38:
Chr14:73173655
PSEN1not providednot providedno assertion provided
47.
GRCh37:
Chr14:73640364
GRCh38:
Chr14:73173656
PSEN1not providednot providedno assertion provided
48.
GRCh37:
Chr14:73640371
GRCh38:
Chr14:73173663
PSEN1not providednot providedno assertion provided
49.
GRCh37:
Chr14:73640371
GRCh38:
Chr14:73173663
PSEN1Alzheimer disease, type 3Pathogenic
(Oct 1, 1995)
no assertion criteria provided
50.
GRCh37:
Chr14:73640371
GRCh38:
Chr14:73173663
PSEN1Alzheimer disease, type 3Pathogenic
(Dec 23, 2010)
no assertion criteria provided
51.
GRCh37:
Chr14:73640373
GRCh38:
Chr14:73173665
PSEN1not providednot providedno assertion provided
52.
GRCh37:
Chr14:73640373
GRCh38:
Chr14:73173665
PSEN1Alzheimer disease, type 3Pathogenic
(Mar 26, 2013)
no assertion criteria provided
53.
GRCh37:
Chr14:73640375
GRCh38:
Chr14:73173667
PSEN1not providednot providedno assertion provided
54.
GRCh37:
Chr14:73640392
GRCh38:
Chr14:73173684
PSEN1not providednot providedno assertion provided
55.
GRCh37:
Chr14:73640395
GRCh38:
Chr14:73173687
PSEN1not providednot providedno assertion provided
56.
GRCh37:
Chr14:73640396
GRCh38:
Chr14:73173688
PSEN1not providednot providedno assertion provided
57.
GRCh37:
Chr14:73640401-73640402
GRCh38:
Chr14:73173693-73173694
PSEN1not providednot providedno assertion provided
58.
GRCh37:
Chr14:73653567
GRCh38:
Chr14:73186859
PSEN1Alzheimer disease, type 3, not providedPathogenic
(Oct 1, 1995)
no assertion criteria provided
59.
GRCh37:
Chr14:73653568
GRCh38:
Chr14:73186860
PSEN1Alzheimer disease, type 3, not providedPathogenic
(Jun 29, 1995)
no assertion criteria provided
60.
GRCh37:
Chr14:73653573
GRCh38:
Chr14:73186865
PSEN1not providednot providedno assertion provided
61.
GRCh37:
Chr14:73653575
GRCh38:
Chr14:73186867
PSEN1not providednot providedno assertion provided
62.
GRCh37:
Chr14:73653576-73653578
GRCh38:
Chr14:73186868-73186870
PSEN1not providednot providedno assertion provided
63.
GRCh37:
Chr14:73653577
GRCh38:
Chr14:73186869
PSEN1not providednot providedno assertion provided
64.
GRCh37:
Chr14:73653577
GRCh38:
Chr14:73186869
PSEN1Alzheimer disease, type 3Pathogenic
(Jun 11, 2002)
no assertion criteria provided
65.
GRCh37:
Chr14:73653578-73653580
GRCh38:
Chr14:73186870-73186872
PSEN1not providednot providedno assertion provided
66.
GRCh37:
Chr14:73653585
GRCh38:
Chr14:73186877
PSEN1not providedLikely pathogenic
(Apr 14, 2017)
criteria provided, single submitter
67.
GRCh37:
Chr14:73653586
GRCh38:
Chr14:73186878
PSEN1not providednot providedno assertion provided
68.
GRCh37:
Chr14:73653589
GRCh38:
Chr14:73186881
PSEN1Alzheimer disease, type 3, not providedPathogenic
(Dec 23, 2010)
no assertion criteria provided
69.
GRCh37:
Chr14:73653592
GRCh38:
Chr14:73186884
PSEN1not providednot providedno assertion provided
70.
GRCh37:
Chr14:73653598
GRCh38:
Chr14:73186890
PSEN1not providednot providedno assertion provided
71.
GRCh37:
Chr14:73653600
GRCh38:
Chr14:73186892
PSEN1Alzheimer disease, type 3, not providedPathogenic
(Oct 1, 2002)
no assertion criteria provided
72.
GRCh37:
Chr14:73653601
GRCh38:
Chr14:73186893
PSEN1not providednot providedno assertion provided
73.
GRCh37:
Chr14:73653604
GRCh38:
Chr14:73186896
PSEN1not providednot providedno assertion provided
74.
GRCh37:
Chr14:73653609
GRCh38:
Chr14:73186901
PSEN1not providednot providedno assertion provided
75.
GRCh37:
Chr14:73653610
GRCh38:
Chr14:73186902
PSEN1not providednot providedno assertion provided
76.
GRCh37:
Chr14:73653612
GRCh38:
Chr14:73186904
PSEN1not providednot providedno assertion provided
77.
GRCh37:
Chr14:73653628
GRCh38:
Chr14:73186920
PSEN1Alzheimer disease, type 3, Pick's disease, not provided
Pathogenic
(May 12, 2017)
no assertion criteria provided
78.
GRCh37:
Chr14:73659355
GRCh38:
Chr14:73192647
PSEN1not providednot providedno assertion provided
79.
GRCh37:
Chr14:73659419
GRCh38:
Chr14:73192711
PSEN1not providednot providedno assertion provided
80.
GRCh37:
Chr14:73659420
GRCh38:
Chr14:73192712
PSEN1not providednot providedno assertion provided
81.
GRCh37:
Chr14:73659420
GRCh38:
Chr14:73192712
PSEN1Alzheimer disease, type 3Pathogenic
(Nov 14, 2001)
no assertion criteria provided
82.
GRCh37:
Chr14:73659428
GRCh38:
Chr14:73192720
PSEN1not providednot providedno assertion provided
83.
GRCh37:
Chr14:73659429
GRCh38:
Chr14:73192721
PSEN1not providednot providedno assertion provided
84.
GRCh37:
Chr14:73659440
GRCh38:
Chr14:73192732
PSEN1not providednot providedno assertion provided
85.
GRCh37:
Chr14:73659441
GRCh38:
Chr14:73192733
PSEN1not providednot providedno assertion provided
86.
GRCh37:
Chr14:73659443
GRCh38:
Chr14:73192735
PSEN1not providednot providedno assertion provided
87.
GRCh37:
Chr14:73659446
GRCh38:
Chr14:73192738
PSEN1not providedUncertain significance
(Nov 30, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr14:73659452
GRCh38:
Chr14:73192744
PSEN1Alzheimer disease, familial, 3, with unusual plaquesPathogenic
(Aug 11, 2009)
no assertion criteria provided
89.
GRCh37:
Chr14:73659453
GRCh38:
Chr14:73192745
PSEN1not providednot providedno assertion provided
90.
GRCh37:
Chr14:73659457
GRCh38:
Chr14:73192749
PSEN1Early-Onset Familial Alzheimer Disease, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr14:73659458
GRCh38:
Chr14:73192750
PSEN1not providednot providedno assertion provided
92.
GRCh37:
Chr14:73659459
GRCh38:
Chr14:73192751
PSEN1not providednot providedno assertion provided
93.
GRCh37:
Chr14:73659468
GRCh38:
Chr14:73192760
PSEN1not providednot providedno assertion provided
94.
GRCh37:
Chr14:73659469
GRCh38:
Chr14:73192761
PSEN1not providednot providedno assertion provided
95.
GRCh37:
Chr14:73659479
GRCh38:
Chr14:73192771
PSEN1not providednot providedno assertion provided
96.
GRCh37:
Chr14:73659480
GRCh38:
Chr14:73192772
PSEN1not providednot providedno assertion provided
97.
GRCh37:
Chr14:73659488
GRCh38:
Chr14:73192780
PSEN1not providednot providedno assertion provided
98.
GRCh37:
Chr14:73659494
GRCh38:
Chr14:73192786
PSEN1not providednot providedno assertion provided
99.
GRCh37:
Chr14:73659495
GRCh38:
Chr14:73192787
PSEN1not providednot providedno assertion provided
100.
GRCh37:
Chr14:73659500
GRCh38:
Chr14:73192792
PSEN1not providednot providedno assertion provided
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