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Items: 1 to 100 of 568

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:47630287
GRCh38:
Chr2:47403148
MSH2not specifiedUncertain significance
(Aug 1, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr2:47630288
GRCh38:
Chr2:47403149
MSH2Lynch syndrome, not specifiedUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr2:47630289
GRCh38:
Chr2:47403150
MSH2not specifiedLikely benign
(Dec 28, 2015)
criteria provided, single submitter
4.
GRCh37:
Chr2:47630292
GRCh38:
Chr2:47403153
MSH2not specifiedLikely benign
(Sep 20, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr2:47630294
GRCh38:
Chr2:47403155
MSH2not specifiedLikely benign
(Nov 30, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr2:47630295
GRCh38:
Chr2:47403156
MSH2not specifiedUncertain significance
(Dec 23, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr2:47630297
GRCh38:
Chr2:47403158
MSH2not specifiedUncertain significance
(Oct 21, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr2:47630301
GRCh38:
Chr2:47403162
MSH2not specifiedUncertain significance
(Jun 1, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr2:47630302
GRCh38:
Chr2:47403163
MSH2Lynch syndrome, not specifiedUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr2:47630308
GRCh38:
Chr2:47403169
MSH2not specifiedBenign
(Sep 9, 2014)
criteria provided, single submitter
11.
GRCh37:
Chr2:47630317
GRCh38:
Chr2:47403178
MSH2not specifiedUncertain significance
(Jun 18, 2015)
criteria provided, single submitter
12.
GRCh37:
Chr2:47630318
GRCh38:
Chr2:47403179
MSH2not specifiedLikely benign
(Jan 11, 2017)
criteria provided, single submitter
13.
GRCh37:
Chr2:47630320
GRCh38:
Chr2:47403181
MSH2not specifiedLikely benign
(Jan 3, 2017)
criteria provided, single submitter
14.
GRCh37:
Chr2:47630321-47630323
GRCh38:
Chr2:47403182-47403184
MSH2not specifiedLikely benign
(Oct 12, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr2:47630322
GRCh38:
Chr2:47403183
MSH2not specifiedLikely benign
(Nov 11, 2015)
criteria provided, single submitter
16.
GRCh37:
Chr2:47630322
GRCh38:
Chr2:47403183
MSH2Lynch syndrome I, not specifiedConflicting interpretations of pathogenicity
(Apr 7, 2016)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr2:47630323
GRCh38:
Chr2:47403184
MSH2not specifiedUncertain significance
(Sep 12, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr2:47630328
GRCh38:
Chr2:47403189
MSH2Lynch syndrome I, not specified, Hereditary cancer-predisposing syndrome
Uncertain significance
(Mar 29, 2016)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr2:47630329
GRCh38:
Chr2:47403190
MSH2not specifiedUncertain significance
(Sep 2, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr2:47630331
GRCh38:
Chr2:47403192
MSH2Lynch syndrome I, Lynch syndrome, not specified,
Hereditary cancer-predisposing syndrome
Uncertain significance
(Sep 5, 2013)
reviewed by expert panel
21.
GRCh37:
Chr2:47630334-47630351
GRCh38:
Chr2:47403195-47403212
MSH2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Uncertain significance
(Sep 5, 2013)
reviewed by expert panel
22.
GRCh37:
Chr2:47630334
GRCh38:
Chr2:47403195
MSH2Lynch syndrome I, Lynch syndrome, not specified,
not provided, Hereditary cancer-predisposing syndrome
Uncertain significance
(Mar 1, 2014)
reviewed by expert panel
23.
GRCh37:
Chr2:47630335
GRCh38:
Chr2:47403196
MSH2Lynch syndrome I, Lynch syndrome, not specified
Uncertain significance
(Mar 12, 2016)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr2:47630336
GRCh38:
Chr2:47403197
MSH2Lynch syndrome, not specifiedLikely benign
(Dec 12, 2016)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr2:47630336
GRCh38:
Chr2:47403197
MSH2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Likely benign
(Sep 5, 2013)
reviewed by expert panel
26.
GRCh37:
Chr2:47630340
GRCh38:
Chr2:47403201
MSH2Lynch syndrome, not specifiedUncertain significance
(Sep 30, 2016)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr2:47630341
GRCh38:
Chr2:47403202
MSH2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Uncertain significance
(Jan 6, 2017)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr2:47630341
GRCh38:
Chr2:47403202
MSH2not provided, Hereditary cancer-predisposing syndromePathogenic
(Aug 9, 2016)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr2:47630344
GRCh38:
Chr2:47403205
MSH2not specifiedUncertain significance
(Mar 22, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr2:47630344
GRCh38:
Chr2:47403205
MSH2Lynch syndrome I, Lynch syndrome, not specified,
Hereditary cancer-predisposing syndrome
Uncertain significance
(Sep 5, 2013)
reviewed by expert panel
31.
GRCh37:
Chr2:47630353
GRCh38:
Chr2:47403214
MSH2Lynch syndrome I, Lynch syndrome, not specified,
not provided, Hereditary cancer-predisposing syndrome
Benign
(Sep 5, 2013)
reviewed by expert panel
32.
GRCh37:
Chr2:47630368
GRCh38:
Chr2:47403229
MSH2not specifiedUncertain significance
(Feb 25, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr2:47630369-47630378
GRCh38:
Chr2:47403230-47403239
MSH2not providedPathogenic
(Jul 6, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr2:47630377
GRCh38:
Chr2:47403238
MSH2not specifiedUncertain significance
(Mar 24, 2017)
criteria provided, single submitter
35.
GRCh37:
Chr2:47630385
GRCh38:
Chr2:47403246
MSH2not specifiedUncertain significance
(Apr 29, 2015)
criteria provided, single submitter
36.
GRCh37:
Chr2:47630385
GRCh38:
Chr2:47403246
MSH2Lynch syndrome I, Lynch syndrome, not specified,
Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Nov 18, 2016)
criteria provided, conflicting interpretations
37.
GRCh37:
Chr2:47630392
GRCh38:
Chr2:47403253
MSH2not specifiedUncertain significance
(Sep 11, 2015)
criteria provided, single submitter
38.
GRCh37:
Chr2:47630392
GRCh38:
Chr2:47403253
MSH2not specifiedUncertain significance
(Jun 6, 2014)
criteria provided, single submitter
39.
GRCh37:
Chr2:47630397
GRCh38:
Chr2:47403258
MSH2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Benign/Likely benign
(Nov 1, 2016)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr2:47630400
GRCh38:
Chr2:47403261
MSH2not providedPathogenic
(Jan 8, 2014)
criteria provided, single submitter
41.
GRCh37:
Chr2:47630402
GRCh38:
Chr2:47403263
MSH2not specifiedUncertain significance
(May 4, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr2:47630410
GRCh38:
Chr2:47403271
MSH2Lynch syndrome I, Lynch syndrome, not specified,
Hereditary cancer-predisposing syndrome
Uncertain significance
(Oct 21, 2016)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr2:47630414
GRCh38:
Chr2:47403275
MSH2Lynch syndrome, not specifiedLikely benign
(Jan 5, 2017)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr2:47630427
GRCh38:
Chr2:47403288
MSH2Lynch syndrome, not specifiedUncertain significance
(Sep 5, 2013)
reviewed by expert panel
45.
GRCh37:
Chr2:47630427
GRCh38:
Chr2:47403288
MSH2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Uncertain significance
(Sep 5, 2013)
reviewed by expert panel
46.
GRCh37:
Chr2:47630430
GRCh38:
Chr2:47403291
MSH2not specifiedUncertain significance
(Apr 23, 2015)
criteria provided, single submitter
47.
GRCh37:
Chr2:47630433
GRCh38:
Chr2:47403294
MSH2not specifiedUncertain significance
(Dec 23, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr2:47630442
GRCh38:
Chr2:47403303
MSH2Lynch syndrome, not specifiedUncertain significance
(Sep 5, 2016)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr2:47630445
GRCh38:
Chr2:47403306
MSH2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Aug 2, 2016)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr2:47630448
GRCh38:
Chr2:47403309
MSH2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Uncertain significance
(Sep 5, 2013)
reviewed by expert panel
51.
GRCh37:
Chr2:47630453
GRCh38:
Chr2:47403314
MSH2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Uncertain significance
(Dec 15, 2016)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr2:47630456
GRCh38:
Chr2:47403317
MSH2not specified, Hereditary cancer-predisposing syndromeUncertain significance
(Aug 22, 2016)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr2:47630458
GRCh38:
Chr2:47403319
MSH2not specifiedUncertain significance
(Aug 19, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr2:47630458
GRCh38:
Chr2:47403319
MSH2Lynch syndrome I, Lynch syndrome, not specified,
Hereditary cancer-predisposing syndrome
Uncertain significance
(Sep 5, 2013)
reviewed by expert panel
55.
GRCh37:
Chr2:47630468
GRCh38:
Chr2:47403329
MSH2Lynch syndrome I, Lynch syndrome, not specified,
Hereditary cancer-predisposing syndrome, Colorectal cancer
Uncertain significance
(Nov 24, 2015)
reviewed by expert panel
56.
GRCh37:
Chr2:47630476
GRCh38:
Chr2:47403337
MSH2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Uncertain significance
(Sep 5, 2013)
reviewed by expert panel
57.
GRCh37:
Chr2:47630477
GRCh38:
Chr2:47403338
MSH2Lynch syndrome, not specifiedUncertain significance
(May 7, 2015)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr2:47630486
GRCh38:
Chr2:47403347
MSH2not specifiedLikely benign
(Feb 3, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr2:47630489
GRCh38:
Chr2:47403350
MSH2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Likely benign
(Sep 8, 2016)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr2:47630493
GRCh38:
Chr2:47403354
MSH2not specified, Hereditary cancer-predisposing syndromeUncertain significance
(Apr 6, 2016)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr2:47630494
GRCh38:
Chr2:47403355
MSH2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Uncertain significance
(Mar 1, 2016)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr2:47630495
GRCh38:
Chr2:47403356
MSH2not specifiedLikely benign
(Nov 29, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr2:47630496
GRCh38:
Chr2:47403357
MSH2Lynch syndrome, not specifiedUncertain significance
(Jan 26, 2017)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr2:47630511
GRCh38:
Chr2:47403372
MSH2Lynch syndrome, not provided, Hereditary cancer-predisposing syndrome
Pathogenic
(Sep 5, 2013)
reviewed by expert panel
65.
GRCh37:
Chr2:47630515
GRCh38:
Chr2:47403376
MSH2not specifiedUncertain significance
(Dec 30, 2015)
criteria provided, single submitter
66.
GRCh37:
Chr2:47630516
GRCh38:
Chr2:47403377
MSH2not specified, Hereditary cancer-predisposing syndromeLikely benign
(Jul 7, 2016)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr2:47630517
GRCh38:
Chr2:47403378
MSH2Lynch syndrome, not provided, Hereditary cancer-predisposing syndrome
Pathogenic
(Sep 5, 2013)
reviewed by expert panel
68.
GRCh37:
Chr2:47630528
GRCh38:
Chr2:47403389
MSH2Lynch syndrome I, Lynch syndrome, not specified,
Hereditary cancer-predisposing syndrome
Benign/Likely benign
(Nov 28, 2016)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr2:47630533
GRCh38:
Chr2:47403394
MSH2not specifiedUncertain significance
(Oct 31, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr2:47630549
GRCh38:
Chr2:47403410
MSH2Lynch syndrome, not specifiedBenign/Likely benign
(Dec 14, 2016)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr2:47630555
GRCh38:
Chr2:47403416
MSH2not specifiedLikely benign
(Sep 22, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr2:47635539
GRCh38:
Chr2:47408400
MSH2Lynch syndrome, not provided, Hereditary cancer-predisposing syndrome
Pathogenic
(Sep 5, 2013)
reviewed by expert panel
73.
GRCh37:
Chr2:47635540
GRCh38:
Chr2:47408401
MSH2not specifiedUncertain significance
(Jul 15, 2015)
criteria provided, single submitter
74.
GRCh37:
Chr2:47635548
GRCh38:
Chr2:47408409
MSH2Lynch syndrome I, Lynch syndrome, not specified
Uncertain significance
(Oct 26, 2016)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr2:47635554
GRCh38:
Chr2:47408415
MSH2Lynch syndrome, not provided, Hereditary cancer-predisposing syndrome
Pathogenic
(Sep 5, 2013)
reviewed by expert panel
76.
GRCh37:
Chr2:47635560
GRCh38:
Chr2:47408421
MSH2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Uncertain significance
(Nov 2, 2016)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr2:47635570
GRCh38:
Chr2:47408431
MSH2not specifiedUncertain significance
(Apr 9, 2015)
criteria provided, single submitter
78.
GRCh37:
Chr2:47635588
GRCh38:
Chr2:47408449
MSH2not specified, Hereditary cancer-predisposing syndromeUncertain significance
(Jan 30, 2017)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr2:47635588
GRCh38:
Chr2:47408449
MSH2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Uncertain significance
(Dec 2, 2016)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr2:47635602
GRCh38:
Chr2:47408463
MSH2not specifiedUncertain significance
(Nov 25, 2015)
criteria provided, single submitter
81.
GRCh37:
Chr2:47635607-47635609
GRCh38:
Chr2:47408468-47408470
MSH2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Benign
(Sep 5, 2013)
reviewed by expert panel
82.
GRCh37:
Chr2:47635615
GRCh38:
Chr2:47408476
MSH2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Likely benign
(Sep 5, 2013)
reviewed by expert panel
83.
GRCh37:
Chr2:47635617
GRCh38:
Chr2:47408478
MSH2Lynch syndrome I, Lynch syndrome, not provided,
Hereditary cancer-predisposing syndrome
Pathogenic
(Sep 5, 2013)
reviewed by expert panel
84.
GRCh37:
Chr2:47635619
GRCh38:
Chr2:47408480
MSH2not specifiedUncertain significance
(Apr 11, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr2:47635622
GRCh38:
Chr2:47408483
MSH2not providedLikely pathogenic
(Dec 17, 2015)
criteria provided, single submitter
86.
GRCh37:
Chr2:47635629-47635634
GRCh38:
Chr2:47408490-47408495
MSH2Lynch syndrome I, Lynch syndrome, not provided,
Hereditary cancer-predisposing syndrome
Likely pathogenic
(Sep 5, 2013)
reviewed by expert panel
87.
GRCh37:
Chr2:47635632
GRCh38:
Chr2:47408493
MSH2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Likely benign
(Sep 5, 2013)
reviewed by expert panel
88.
GRCh37:
Chr2:47635635
GRCh38:
Chr2:47408496
MSH2Lynch syndrome, not specifiedUncertain significance
(Oct 1, 2015)
criteria provided, single submitter
89.
GRCh37:
Chr2:47635636
GRCh38:
Chr2:47408497
MSH2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Uncertain significance
(Sep 5, 2013)
reviewed by expert panel
90.
GRCh37:
Chr2:47635645
GRCh38:
Chr2:47408506
MSH2Lynch syndrome I, Lynch syndrome, not specified,
Hereditary cancer-predisposing syndrome
Benign
(Sep 5, 2013)
reviewed by expert panel
91.
GRCh37:
Chr2:47635656
GRCh38:
Chr2:47408517
MSH2Lynch syndrome, not specifiedUncertain significance
(Oct 6, 2016)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr2:47635663
GRCh38:
Chr2:47408524
MSH2not specifiedUncertain significance
(Oct 19, 2015)
criteria provided, single submitter
93.
GRCh37:
Chr2:47635664
GRCh38:
Chr2:47408525
MSH2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Dec 15, 2016)
criteria provided, conflicting interpretations
94.
GRCh37:
Chr2:47635667
GRCh38:
Chr2:47408528
MSH2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Benign
(Sep 5, 2013)
reviewed by expert panel
95.
GRCh37:
Chr2:47635678
GRCh38:
Chr2:47408539
MSH2Lynch syndrome, not providedPathogenic
(Dec 24, 2016)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr2:47635680-47635686
GRCh38:
Chr2:47408541-47408547
MSH2not providedPathogenic
(Sep 28, 2015)
criteria provided, single submitter
97.
GRCh37:
Chr2:47635690
GRCh38:
Chr2:47408551
MSH2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Uncertain significance
(Dec 28, 2016)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr2:47635695
GRCh38:
Chr2:47408556
MSH2Lynch syndrome, not providedPathogenic/Likely pathogenic
(Sep 30, 2016)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr2:47635702
GRCh38:
Chr2:47408563
MSH2not specifiedLikely benign
(Jul 19, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr2:47635708
GRCh38:
Chr2:47408569
MSH2not specifiedLikely benign
(Feb 26, 2016)
criteria provided, single submitter
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