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Items: 1 to 100 of 71159

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:108173750
GRCh38:
Chr11:108303023
ATMHereditary cancer-predisposing syndromeUncertain significance
(Jul 10, 2018)
criteria provided, single submitter
2.
GRCh37:
Chr11:108173629
GRCh38:
Chr11:108302902
ATMHereditary cancer-predisposing syndromeUncertain significance
(May 7, 2018)
criteria provided, single submitter
3.
GRCh37:
Chr11:108168007
GRCh38:
Chr11:108297280
ATMHereditary cancer-predisposing syndromeLikely benign
(Mar 23, 2018)
criteria provided, single submitter
4.
GRCh37:
Chr11:108164037-108164044
GRCh38:
Chr11:108293310-108293317
ATMHereditary cancer-predisposing syndromeLikely pathogenic
(Sep 18, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr11:108158437
GRCh38:
Chr11:108287710
ATMHereditary cancer-predisposing syndromeLikely benign
(Mar 24, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr11:108153601
GRCh38:
Chr11:108282874
ATMHereditary cancer-predisposing syndromeLikely benign
(Nov 17, 2017)
criteria provided, single submitter
7.
GRCh37:
Chr11:108143345
GRCh38:
Chr11:108272618
ATMHereditary cancer-predisposing syndromeLikely benign
(Apr 10, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr11:108142064
GRCh38:
Chr11:108271337
ATMHereditary cancer-predisposing syndromeUncertain significance
(Sep 7, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr11:108142044
GRCh38:
Chr11:108271317
ATMHereditary cancer-predisposing syndromeUncertain significance
(Jun 14, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr11:108141841
GRCh38:
Chr11:108271114
ATMHereditary cancer-predisposing syndromeUncertain significance
(Jul 17, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr2:21225620
GRCh38:
Chr2:21002748
APOBFamilial hypercholesterolemiasUncertain significance
(Jul 29, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr5:112176617
GRCh38:
Chr5:112840920
APCHereditary cancer-predisposing syndromeUncertain significance
(Aug 2, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr16:23647098
GRCh38:
Chr16:23635777
PALB2Hereditary cancer-predisposing syndromeUncertain significance
(Jul 24, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr2:21235491
GRCh38:
Chr2:21012619
APOBFamilial hypercholesterolemiasUncertain significance
(Jul 15, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr17:41247860
GRCh38:
Chr17:43095843
BRCA1Hereditary cancer-predisposing syndromeUncertain significance
(Jul 12, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr1:55524296
GRCh38:
Chr1:55058623
PCSK9Familial hypercholesterolemiasLikely benign
(Jul 12, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr11:108155160
GRCh38:
Chr11:108284433
ATMHereditary cancer-predisposing syndromeUncertain significance
(Jul 12, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr16:15839071
GRCh38:
Chr16:15745214
MYH11Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jun 27, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr18:28654656
GRCh38:
Chr18:31074690
DSC2CardiomyopathyLikely benign
(Jun 25, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr3:52441992
GRCh38:
Chr3:52407976
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Jun 26, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr22:29130643
GRCh38:
Chr22:28734655
CHEK2Hereditary cancer-predisposing syndromeUncertain significance
(Jun 22, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr5:112174565
GRCh38:
Chr5:112838868
APCHereditary cancer-predisposing syndromeUncertain significance
(Jun 13, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr3:37091978
GRCh38:
Chr3:37050487
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(May 25, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr1:45794961
GRCh38:
Chr1:45329293
MUTYHHereditary cancer-predisposing syndromeLikely benign
(Mar 23, 2017)
criteria provided, single submitter
25.
GRCh37:
Chr22:29130529
GRCh38:
Chr22:28734541
CHEK2Hereditary cancer-predisposing syndromeUncertain significance
(Jul 18, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr22:29108012
GRCh38:
Chr22:28712024
CHEK2Hereditary cancer-predisposing syndromeUncertain significance
(May 31, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr22:29107964
GRCh38:
Chr22:28711976
CHEK2Hereditary cancer-predisposing syndromeUncertain significance
(May 7, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr22:29092991
GRCh38:
Chr22:28697003
CHEK2Hereditary cancer-predisposing syndromeLikely benign
(Mar 29, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr22:29092982
GRCh38:
Chr22:28696994
CHEK2Hereditary cancer-predisposing syndromeUncertain significance
(Aug 27, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr22:29091682
GRCh38:
Chr22:28695694
CHEK2Hereditary cancer-predisposing syndromeLikely benign
(Oct 9, 2017)
criteria provided, single submitter
31.
GRCh37:
Chr22:29083977
GRCh38:
Chr22:28687989
CHEK2Hereditary cancer-predisposing syndromeUncertain significance
(Apr 25, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr11:108127046
GRCh38:
Chr11:108256319
ATMHereditary cancer-predisposing syndromeLikely benign
(Aug 21, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr11:108123615
GRCh38:
Chr11:108252888
ATMHereditary cancer-predisposing syndromeUncertain significance
(Aug 24, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr11:108122556
GRCh38:
Chr11:108251829
ATMHereditary cancer-predisposing syndromeLikely benign
(Jan 19, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr11:108121804
GRCh38:
Chr11:108251077
ATMHereditary cancer-predisposing syndromeUncertain significance
(Jul 3, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr11:108121465
GRCh38:
Chr11:108250738
ATMHereditary cancer-predisposing syndromeUncertain significance
(Jun 12, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr11:108115770
GRCh38:
Chr11:108245043
ATMHereditary cancer-predisposing syndromeLikely benign
(Aug 13, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr11:108100011
GRCh38:
Chr11:108229284
ATMHereditary cancer-predisposing syndromeUncertain significance
(Aug 30, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr11:108098350
GRCh38:
Chr11:108227623
ATMHereditary cancer-predisposing syndromeUncertain significance
(Oct 28, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr10:89717794
GRCh38:
Chr10:87958037
PTENHereditary cancer-predisposing syndromeLikely benign
(Mar 20, 2017)
criteria provided, single submitter
41.
GRCh37:
Chr1:45798418
GRCh38:
Chr1:45332746
MUTYHHereditary cancer-predisposing syndromeLikely benign
(Mar 25, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr3:52443913
GRCh38:
Chr3:52409897
BAP1Hereditary cancer-predisposing syndromeUncertain significance
(Sep 18, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr11:108225526
GRCh38:
Chr11:108354799
ATM, C11orf65Hereditary cancer-predisposing syndromeUncertain significance
(Sep 14, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr5:112154759
GRCh38:
Chr5:112819062
APCHereditary cancer-predisposing syndromeUncertain significance
(Sep 10, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr2:48027271
GRCh38:
Chr2:47800132
MSH6Hereditary cancer-predisposing syndromeUncertain significance
(Sep 6, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr7:6027153
GRCh38:
Chr7:5987522
PMS2Hereditary cancer-predisposing syndromeUncertain significance
(Sep 5, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr3:52437149
GRCh38:
Chr3:52403133
BAP1Hereditary cancer-predisposing syndromeUncertain significance
(Sep 6, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr2:215609876
GRCh38:
Chr2:214745152
BARD1Hereditary cancer-predisposing syndromeUncertain significance
(Sep 13, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr17:41215956
GRCh38:
Chr17:43063939
BRCA1Hereditary cancer-predisposing syndromeUncertain significance
(Sep 6, 2018)
criteria provided, single submitter
50.
GRCh38:
Chr11:108257485
ATMHereditary cancer-predisposing syndromePathogenic
(Mar 9, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr11:108129713
GRCh38:
Chr11:108258986
ATMHereditary cancer-predisposing syndromeUncertain significance
(Sep 4, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr5:112103055
GRCh38:
Chr5:112767358
APCHereditary cancer-predisposing syndromeLikely benign
(Mar 9, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr17:56769994
GRCh38:
Chr17:58692633
RAD51CHereditary cancer-predisposing syndromeUncertain significance
(Oct 20, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr13:32929183
GRCh38:
Chr13:32355046
BRCA2Hereditary cancer-predisposing syndromeUncertain significance
(Sep 4, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr17:41223032
GRCh38:
Chr17:43071015
BRCA1Hereditary cancer-predisposing syndromeUncertain significance
(Sep 4, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr13:32912626
GRCh38:
Chr13:32338489
BRCA2Hereditary cancer-predisposing syndromeLikely benign
(Mar 7, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr10:89624259
GRCh38:
Chr10:87864502
PTENHereditary cancer-predisposing syndromeLikely benign
(Mar 9, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr11:108196801
GRCh38:
Chr11:108326074
ATM, C11orf65Hereditary cancer-predisposing syndromeUncertain significance
(Sep 4, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr13:32954210
GRCh38:
Chr13:32380073
BRCA2Hereditary cancer-predisposing syndromeUncertain significance
(Sep 4, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr11:108154976
GRCh38:
Chr11:108284249
ATMHereditary cancer-predisposing syndromeUncertain significance
(Sep 4, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr17:41223037
GRCh38:
Chr17:43071020
BRCA1Hereditary cancer-predisposing syndromeUncertain significance
(Sep 4, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr10:88672059
GRCh38:
Chr10:86912302
BMPR1AHereditary cancer-predisposing syndromeUncertain significance
(Sep 4, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr2:48033419
GRCh38:
Chr2:47806280
MSH6Hereditary cancer-predisposing syndromeLikely benign
(Mar 6, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr16:15847245
GRCh38:
Chr16:15753388
MYH11Thoracic aortic aneurysm and aortic dissectionLikely benign
(Mar 5, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr6:7581609
GRCh38:
Chr6:7581376
DSPCardiomyopathyUncertain significance
(Sep 11, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr2:48033716
GRCh38:
Chr2:47806577
MSH6Hereditary cancer-predisposing syndromeLikely benign
(Feb 23, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr8:90993011
GRCh38:
Chr8:89980783
NBNHereditary cancer-predisposing syndromeUncertain significance
(Aug 27, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr2:48027588
GRCh38:
Chr2:47800449
MSH6Hereditary cancer-predisposing syndromeLikely benign
(Feb 23, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr2:48028309
GRCh38:
Chr2:47801170
MSH6Hereditary cancer-predisposing syndromeLikely benign
(Feb 23, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr13:32912341
GRCh38:
Chr13:32338204
BRCA2Hereditary cancer-predisposing syndromeLikely benign
(Feb 23, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr1:45797703
GRCh38:
Chr1:45332031
MUTYHHereditary cancer-predisposing syndromeUncertain significance
(Aug 24, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr1:45799086
GRCh38:
Chr1:45333414
MUTYHHereditary cancer-predisposing syndromeUncertain significance
(Aug 25, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr3:37091996
GRCh38:
Chr3:37050505
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Aug 25, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr13:32972842
GRCh38:
Chr13:32398705
BRCA2Hereditary cancer-predisposing syndromeUncertain significance
(Aug 20, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr16:23641402
GRCh38:
Chr16:23630081
PALB2Hereditary cancer-predisposing syndromeUncertain significance
(Aug 20, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr13:32914017
GRCh38:
Chr13:32339880
BRCA2Hereditary cancer-predisposing syndromeUncertain significance
(Aug 21, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr16:68845773-68845781
GRCh38:
Chr16:68811870-68811878
CDH1Hereditary cancer-predisposing syndromeUncertain significance
(Sep 2, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr11:108142009
GRCh38:
Chr11:108271282
ATMHereditary cancer-predisposing syndromeUncertain significance
(Aug 24, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr17:41228575
GRCh38:
Chr17:43076559
BRCA1Hereditary cancer-predisposing syndromePathogenic
(Feb 20, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr5:112178071
GRCh38:
Chr5:112842374
APCHereditary cancer-predisposing syndromeLikely benign
(Feb 22, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr2:21252800
GRCh38:
Chr2:21029928
APOBFamilial hypercholesterolemiasLikely benign
(Feb 20, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr11:108128353-108128355
GRCh38:
Chr11:108257626-108257628
ATMHereditary cancer-predisposing syndromeLikely benign
(Feb 27, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr13:32905162
GRCh38:
Chr13:32331025
BRCA2Hereditary cancer-predisposing syndromeUncertain significance
(Aug 24, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr13:32972888
GRCh38:
Chr13:32398751
BRCA2Hereditary cancer-predisposing syndromeLikely benign
(Feb 22, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr17:41245305
GRCh38:
Chr17:43093288
BRCA1Hereditary cancer-predisposing syndromeUncertain significance
(Aug 28, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr13:32950947
GRCh38:
Chr13:32376810
BRCA2Hereditary cancer-predisposing syndromeLikely benign
(Feb 16, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr7:6026395
GRCh38:
Chr7:5986764
PMS2Hereditary cancer-predisposing syndromeLikely benign
(Feb 16, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr1:45798437
GRCh38:
Chr1:45332765
MUTYHHereditary cancer-predisposing syndromeUncertain significance
(Aug 25, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr17:41245624
GRCh38:
Chr17:43093607
BRCA1Hereditary cancer-predisposing syndromeUncertain significance
(Aug 17, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr2:48026870
GRCh38:
Chr2:47799731
MSH6Hereditary cancer-predisposing syndromeUncertain significance
(Aug 17, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr22:29121356
GRCh38:
Chr22:28725368
CHEK2Hereditary cancer-predisposing syndromeLikely pathogenic
(Sep 2, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr17:59853757
GRCh38:
Chr17:61776396
BRIP1Hereditary cancer-predisposing syndromeUncertain significance
(Aug 26, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr5:112179469
GRCh38:
Chr5:112843772
APCHereditary cancer-predisposing syndromeLikely benign
(Feb 16, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr5:112177460
GRCh38:
Chr5:112841763
APCHereditary cancer-predisposing syndromeUncertain significance
(Aug 17, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr11:108192065
GRCh38:
Chr11:108321338
ATM, C11orf65Hereditary cancer-predisposing syndromeUncertain significance
(Aug 16, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr2:48033900
GRCh38:
Chr2:47806761
MSH6Hereditary cancer-predisposing syndromeLikely benign
(Feb 16, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr11:108178609
GRCh38:
Chr11:108307882
ATMHereditary cancer-predisposing syndromeLikely benign
(Feb 16, 2018)
criteria provided, single submitter
98.
GRCh37:
Chr2:48026515
GRCh38:
Chr2:47799376
MSH6Hereditary cancer-predisposing syndromeUncertain significance
(Aug 17, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr2:47639649
GRCh38:
Chr2:47412510
MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Aug 17, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr10:88672031
GRCh38:
Chr10:86912274
BMPR1AHereditary cancer-predisposing syndromeUncertain significance
(Aug 17, 2018)
criteria provided, single submitter
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