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Items: 1 to 100 of 1161

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
PMS2Lynch syndromeLikely pathogenic
(Feb 6, 2016)
criteria provided, single submitter
2.
PMS2Lynch syndromePathogenic
(Mar 30, 2016)
criteria provided, single submitter
3.
PMS2Lynch syndromePathogenic
(Mar 14, 2016)
criteria provided, single submitter
4.
PMS2Lynch syndromeLikely pathogenic
(Jan 10, 2016)
criteria provided, single submitter
5.
PMS2Lynch syndromePathogenic
(Feb 26, 2016)
criteria provided, single submitter
6.
PMS2Lynch syndrome IPathogenic
(Nov 24, 2015)
reviewed by expert panel
7.
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
8.
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
9.
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
10.
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
11.
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
12.
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
13.
PMS2Turcot syndrome, Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
14.
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
15.
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
16.
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
17.
GRCh37:
Chr7:6012923
GRCh38:
Chr7:5973292
PMS2Lynch syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr7:6012938
GRCh38:
Chr7:5973307
PMS2Lynch syndromeBenign
(Sep 5, 2013)
reviewed by expert panel
19.
GRCh37:
Chr7:6013013
GRCh38:
Chr7:5973382
PMS2Lynch syndrome, not specifiedBenign
(Sep 5, 2013)
reviewed by expert panel
20.
GRCh37:
Chr7:6013016
GRCh38:
Chr7:5973385
PMS2not specifiedLikely benign
(Aug 3, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr7:6013027
GRCh38:
Chr7:5973396
PMS2not specified, Hereditary cancer-predisposing syndromeUncertain significance
(Nov 18, 2016)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr7:6013028
GRCh38:
Chr7:5973397
PMS2not specified, Hereditary cancer-predisposing syndromeUncertain significance
(May 1, 2017)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr7:6013030-6013173
GRCh38:
Chr7:5973399-5973542
PMS2Lynch syndromePathogenic
(Dec 11, 2014)
criteria provided, single submitter
24.
GRCh37:
Chr7:6013032
GRCh38:
Chr7:5973401
PMS2Lynch syndromeUncertain significance
(Dec 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr7:6013044
GRCh38:
Chr7:5973413
PMS2not specifiedUncertain significance
(Dec 19, 2013)
criteria provided, single submitter
26.
GRCh37:
Chr7:6013049
GRCh38:
Chr7:5973418
PMS2Lynch syndrome I, Lynch syndrome, not specified,
not provided, Hereditary cancer-predisposing syndrome
Benign
(Sep 5, 2013)
reviewed by expert panel
27.
GRCh37:
Chr7:6013052
GRCh38:
Chr7:5973421
PMS2Lynch syndrome, Hereditary cancer-predisposing syndromeUncertain significance
(Nov 18, 2016)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr7:6013054
GRCh38:
Chr7:5973423
PMS2Lynch syndrome, not specifiedLikely benign
(Oct 3, 2016)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr7:6013056
GRCh38:
Chr7:5973425
PMS2not specifiedUncertain significance
(Mar 25, 2015)
criteria provided, single submitter
30.
GRCh37:
Chr7:6013057
GRCh38:
Chr7:5973426
PMS2Lynch syndromeLikely benign
(Apr 1, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr7:6013059
GRCh38:
Chr7:5973428
PMS2Hereditary cancer-predisposing syndromeUncertain significance
(Feb 27, 2015)
criteria provided, single submitter
32.
GRCh37:
Chr7:6013059
GRCh38:
Chr7:5973428
PMS2not specified, Hereditary cancer-predisposing syndromeUncertain significance
(Jan 12, 2016)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr7:6013060
GRCh38:
Chr7:5973429
PMS2Lynch syndrome, Hereditary cancer-predisposing syndromeLikely benign
(Mar 1, 2016)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr7:6013060
GRCh38:
Chr7:5973429
PMS2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Uncertain significance
(Apr 10, 2017)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr7:6013067-6013069
GRCh38:
Chr7:5973436-5973438
PMS2Lynch syndromeUncertain significance
(Jul 18, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr7:6013072
GRCh38:
Chr7:5973441
PMS2Hereditary cancer-predisposing syndromeLikely benign
(Jul 2, 2015)
criteria provided, single submitter
37.
GRCh37:
Chr7:6013073
GRCh38:
Chr7:5973442
PMS2Hereditary cancer-predisposing syndromeUncertain significance
(Sep 4, 2015)
criteria provided, single submitter
38.
GRCh37:
Chr7:6013076
GRCh38:
Chr7:5973445
PMS2Hereditary cancer-predisposing syndromeUncertain significance
(Apr 14, 2014)
criteria provided, single submitter
39.
GRCh37:
Chr7:6013081
GRCh38:
Chr7:5973450
PMS2Lynch syndrome, Hereditary cancer-predisposing syndromeLikely benign
(Oct 16, 2015)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr7:6013084
GRCh38:
Chr7:5973453
PMS2Hereditary cancer-predisposing syndromeLikely benign
(Aug 27, 2015)
criteria provided, single submitter
41.
GRCh37:
Chr7:6013086
GRCh38:
Chr7:5973455
PMS2not providedLikely pathogenic
(Feb 14, 2017)
criteria provided, single submitter
42.
GRCh37:
Chr7:6013088
GRCh38:
Chr7:5973457
PMS2Lynch syndrome, Hereditary cancer-predisposing syndromeUncertain significance
(Oct 24, 2016)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr7:6013091
GRCh38:
Chr7:5973460
PMS2Lynch syndromeUncertain significance
(Sep 5, 2013)
reviewed by expert panel
44.
GRCh37:
Chr7:6013097
GRCh38:
Chr7:5973466
PMS2not providedLikely pathogenic
(Jan 8, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr7:6013098
GRCh38:
Chr7:5973467
PMS2not providedLikely pathogenic
(Jun 3, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr7:6013113
GRCh38:
Chr7:5973482
PMS2Hereditary cancer-predisposing syndromePathogenic
(Oct 17, 2014)
criteria provided, single submitter
47.
GRCh37:
Chr7:6013118-6013119
GRCh38:
Chr7:5973487-5973488
PMS2not providedLikely pathogenic
(Dec 4, 2015)
criteria provided, single submitter
48.
GRCh37:
Chr7:6013118-6013119
GRCh38:
Chr7:5973487-5973488
PMS2Lynch syndrome, Hereditary cancer-predisposing syndromePathogenic
(Dec 16, 2016)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr7:6013120
GRCh38:
Chr7:5973489
PMS2Hereditary cancer-predisposing syndromeLikely benign
(Jun 9, 2015)
criteria provided, single submitter
50.
GRCh37:
Chr7:6013125
GRCh38:
Chr7:5973494
PMS2not specifiedUncertain significance
(Feb 24, 2014)
criteria provided, single submitter
51.
GRCh37:
Chr7:6013128
GRCh38:
Chr7:5973497
PMS2not specifiedUncertain significance
(Jan 26, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr7:6013140
GRCh38:
Chr7:5973509
PMS2Hereditary cancer-predisposing syndromeUncertain significance
(Jun 10, 2015)
criteria provided, single submitter
53.
GRCh37:
Chr7:6013143
GRCh38:
Chr7:5973512
PMS2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Uncertain significance
(Dec 20, 2016)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr7:6013150
GRCh38:
Chr7:5973519
PMS2Lynch syndromeLikely benign
(Jan 29, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr7:6013153
GRCh38:
Chr7:5973522
PMS2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Benign
(Sep 5, 2013)
reviewed by expert panel
56.
GRCh37:
Chr7:6013154
GRCh38:
Chr7:5973523
PMS2Hereditary cancer-predisposing syndromeUncertain significance
(Aug 22, 2013)
criteria provided, single submitter
57.
GRCh37:
Chr7:6013161
GRCh38:
Chr7:5973530
PMS2Lynch syndromePathogeniccriteria provided, single submitter
58.
GRCh37:
Chr7:6013162
GRCh38:
Chr7:5973531
PMS2Hereditary cancer-predisposing syndromeLikely benign
(Oct 27, 2014)
criteria provided, single submitter
59.
GRCh37:
Chr7:6013166
GRCh38:
Chr7:5973535
PMS2Hereditary cancer-predisposing syndromeUncertain significance
(Sep 5, 2014)
criteria provided, single submitter
60.
GRCh37:
Chr7:6013172
GRCh38:
Chr7:5973541
PMS2Lynch syndromeUncertain significance
(Sep 27, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr7:6013173
GRCh38:
Chr7:5973542
PMS2Hereditary cancer-predisposing syndromeUncertain significance
(Jun 2, 2015)
criteria provided, single submitter
62.
GRCh37:
Chr7:6013174
GRCh38:
Chr7:5973543
PMS2Hereditary cancer-predisposing syndromeLikely pathogenic
(Dec 22, 2015)
criteria provided, single submitter
63.
GRCh37:
Chr7:6013175
GRCh38:
Chr7:5973544
PMS2not providedLikely pathogenic
(Jun 13, 2017)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr7:6013175-6013178
GRCh38:
Chr7:5973544-5973547
PMS2Hereditary cancer-predisposing syndromeUncertain significance
(Jan 21, 2015)
criteria provided, single submitter
65.
GRCh37:
Chr7:6013178
GRCh38:
Chr7:5973547
PMS2Lynch syndromeLikely benign
(Aug 15, 2015)
criteria provided, single submitter
66.
GRCh37:
Chr7:6013191
GRCh38:
Chr7:5973560
PMS2not specifiedLikely benign
(Apr 21, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr7:6013196-6013198
GRCh38:
Chr7:5973565-5973567
PMS2Lynch syndromeUncertain significance
(Sep 5, 2013)
reviewed by expert panel
68.
GRCh37:
Chr7:6015623-6017501
GRCh38:
Chr7:5975992-5977870
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
69.
GRCh37:
Chr7:6016429-6017479
GRCh38:
Chr7:5976798-5977848
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
70.
GRCh37:
Chr7:6017205
GRCh38:
Chr7:5977574
PMS2not specifiedLikely benign
(Mar 23, 2017)
criteria provided, single submitter
71.
GRCh37:
Chr7:6017206
GRCh38:
Chr7:5977575
PMS2not specifiedLikely benign
(Apr 11, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr7:6017210
GRCh38:
Chr7:5977579
PMS2not specifiedLikely benign
(May 23, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr7:6017211
GRCh38:
Chr7:5977580
PMS2not specifiedLikely benign
(Apr 11, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr7:6017216
GRCh38:
Chr7:5977585
PMS2Lynch syndromeUncertain significance
(Dec 21, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr7:6017218
GRCh38:
Chr7:5977587
PMS2Lynch syndromeLikely pathogenic
(Nov 5, 2015)
criteria provided, single submitter
76.
GRCh37:
Chr7:6017218
GRCh38:
Chr7:5977587
PMS2Lynch syndrome, not specified, not provided
Pathogenic
(Nov 29, 2016)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr7:6017219
GRCh38:
Chr7:5977588
PMS2Lynch syndrome, Hereditary cancer-predisposing syndromeUncertain significance
(Mar 28, 2016)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr7:6017220
GRCh38:
Chr7:5977589
PMS2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Uncertain significance
(Sep 5, 2013)
reviewed by expert panel
79.
GRCh37:
Chr7:6017226
GRCh38:
Chr7:5977595
PMS2not specifiedUncertain significance
(Feb 6, 2017)
criteria provided, single submitter
80.
GRCh37:
Chr7:6017226
GRCh38:
Chr7:5977595
PMS2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Uncertain significance
(Jan 12, 2017)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr7:6017227
GRCh38:
Chr7:5977596
PMS2not specified, Hereditary cancer-predisposing syndromeUncertain significance
(Jun 23, 2016)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr7:6017227
GRCh38:
Chr7:5977596
PMS2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Uncertain significance
(Mar 2, 2017)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr7:6017229
GRCh38:
Chr7:5977598
PMS2not specifiedUncertain significance
(Nov 13, 2015)
criteria provided, single submitter
84.
GRCh37:
Chr7:6017246
GRCh38:
Chr7:5977615
PMS2Hereditary cancer-predisposing syndromeUncertain significance
(Oct 3, 2014)
criteria provided, single submitter
85.
GRCh37:
Chr7:6017252
GRCh38:
Chr7:5977621
PMS2not specified, Hereditary cancer-predisposing syndromeUncertain significance
(Mar 14, 2016)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr7:6017259
GRCh38:
Chr7:5977628
PMS2Lynch syndromeUncertain significance
(Sep 1, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr7:6017260
GRCh38:
Chr7:5977629
PMS2Hereditary cancer-predisposing syndromeLikely benign
(Aug 14, 2015)
criteria provided, single submitter
88.
GRCh37:
Chr7:6017260
GRCh38:
Chr7:5977629
PMS2Turcot syndrome, Hereditary nonpolyposis colorectal cancer type 4, Lynch syndrome,
not provided, Hereditary cancer-predisposing syndrome
Pathogenic
(Sep 5, 2013)
reviewed by expert panel
89.
GRCh37:
Chr7:6017265
GRCh38:
Chr7:5977634
PMS2not providedUncertain significance
(Jul 13, 2012)
no assertion criteria provided
90.
GRCh37:
Chr7:6017268
GRCh38:
Chr7:5977637
PMS2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Uncertain significance
(Dec 23, 2016)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr7:6017269
GRCh38:
Chr7:5977638
PMS2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Uncertain significance
(Sep 5, 2013)
reviewed by expert panel
92.
GRCh37:
Chr7:6017274
GRCh38:
Chr7:5977643
PMS2not specifiedUncertain significance
(Apr 9, 2015)
criteria provided, single submitter
93.
GRCh37:
Chr7:6017274
GRCh38:
Chr7:5977643
PMS2Lynch syndromeUncertain significance
(Sep 5, 2013)
reviewed by expert panel
94.
GRCh37:
Chr7:6017276
GRCh38:
Chr7:5977645
PMS2Lynch syndromeLikely benign
(Dec 19, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr7:6017276
GRCh38:
Chr7:5977645
PMS2Hereditary cancer-predisposing syndromeLikely benign
(Sep 23, 2015)
criteria provided, single submitter
96.
GRCh37:
Chr7:6017278
GRCh38:
Chr7:5977647
PMS2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Uncertain significance
(May 22, 2017)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr7:6017279
GRCh38:
Chr7:5977648
PMS2Lynch syndrome, Hereditary cancer-predisposing syndromeLikely benign
(Dec 19, 2015)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr7:6017280
GRCh38:
Chr7:5977649
PMS2Hereditary cancer-predisposing syndromeUncertain significance
(Dec 21, 2014)
criteria provided, single submitter
99.
GRCh37:
Chr7:6017282
GRCh38:
Chr7:5977651
PMS2not specifiedLikely benign
(Dec 2, 2015)
criteria provided, single submitter
100.
GRCh37:
Chr7:6017283
GRCh38:
Chr7:5977652
PMS2not specified, Hereditary cancer-predisposing syndromeUncertain significance
(Feb 22, 2016)
criteria provided, multiple submitters, no conflicts
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