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Items: 1 to 100 of 1714

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:47625602-47636880
GRCh38:
Chr2:47398463-47409741
MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
2.
GRCh37:
Chr2:47628578-47638433
GRCh38:
Chr2:47401439-47411294
MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
3.
GRCh37:
Chr2:47629375-47651274
GRCh38:
Chr2:47402236-47424135
MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
4.
GRCh37:
Chr2:47629508-47649552
GRCh38:
Chr2:47402369-47422413
MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
5.
GRCh37:
Chr2:47629898
GRCh38:
Chr2:47402759
MSH2Lynch syndromeBenign
(Sep 5, 2013)
reviewed by expert panel
6.
GRCh37:
Chr2:47630213
GRCh38:
Chr2:47403074
MSH2Lynch syndromeBenign
(Sep 5, 2013)
reviewed by expert panel
7.
GRCh37:
Chr2:47630252-47630253
GRCh38:
Chr2:47403113-47403114
MSH2Lynch syndromeLikely pathogenic
(Jun 21, 2019)
reviewed by expert panel
8.
GRCh37:
Chr2:47630263-47641557
GRCh38:
Chr2:47403124-47414418
MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
9.
GRCh37:
Chr2:47630263-47639699
GRCh38:
Chr2:47403124-47412560
MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
10.
GRCh37:
Chr2:47630263-47637511
GRCh38:
Chr2:47403124-47410372
MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
11.
GRCh37:
Chr2:47630263-47635694
GRCh38:
Chr2:47403124-47408555
MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
12.
GRCh37:
Chr2:47630263-47708010
GRCh38:
Chr2:47403124-47480871
MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
13.
GRCh37:
Chr2:47630263-47630541
GRCh38:
Chr2:47403124-47403402
MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
14.
GRCh37:
Chr2:47630263-47698201
GRCh38:
Chr2:47403124-47471062
MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
15.
GRCh37:
Chr2:47630263-47693947
GRCh38:
Chr2:47403124-47466808
MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
16.
GRCh37:
Chr2:47630263-47672796
GRCh38:
Chr2:47403124-47445657
MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
17.
GRCh37:
Chr2:47630263-47657080
GRCh38:
Chr2:47403124-47429941
MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
18.
GRCh37:
Chr2:47630263-47643568
GRCh38:
Chr2:47403124-47416429
MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
19.
GRCh37:
Chr2:47630331
GRCh38:
Chr2:47403192
MSH2M1LLynch syndromeUncertain significance
(Jun 21, 2019)
reviewed by expert panel
20.
GRCh37:
Chr2:47630331
GRCh38:
Chr2:47403192
MSH2M1VLynch syndromeUncertain significance
(Jun 21, 2019)
reviewed by expert panel
21.
GRCh37:
Chr2:47630331
GRCh38:
Chr2:47403192
MSH2M1LLynch syndromeUncertain significance
(Jun 21, 2019)
reviewed by expert panel
22.
GRCh37:
Chr2:47630334
GRCh38:
Chr2:47403195
MSH2A2TLynch syndrome 1Likely benign
(Jun 13, 2018)
reviewed by expert panel
23.
GRCh37:
Chr2:47630336
GRCh38:
Chr2:47403197
MSH2Lynch syndromeLikely benign
(Sep 5, 2013)
reviewed by expert panel
24.
GRCh37:
Chr2:47630337
GRCh38:
Chr2:47403198
MSH2V3LLynch syndromeBenign
(Oct 18, 2018)
reviewed by expert panel
25.
GRCh37:
Chr2:47630350-47630351
GRCh38:
Chr2:47403211-47403212
MSH2T8fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
26.
GRCh37:
Chr2:47630350
GRCh38:
Chr2:47403211
MSH2E7fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
27.
GRCh37:
Chr2:47630353
GRCh38:
Chr2:47403214
MSH2T8MLynch syndromeBenign
(Sep 5, 2013)
reviewed by expert panel
28.
GRCh37:
Chr2:47630358-47630359
GRCh38:
Chr2:47403219-47403220
MSH2L11fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
29.
GRCh37:
Chr2:47630358
GRCh38:
Chr2:47403219
MSH2Q10*Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
30.
GRCh37:
Chr2:47630362-47630363
GRCh38:
Chr2:47403223-47403224
MSH2E12fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
31.
GRCh37:
Chr2:47630400-47630401
GRCh38:
Chr2:47403261-47403262
MSH2M26fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
32.
GRCh37:
Chr2:47630403-47630404
GRCh38:
Chr2:47403264-47403265
MSH2G25fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
33.
GRCh37:
Chr2:47630411
GRCh38:
Chr2:47403272
MSH2E28fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
34.
GRCh37:
Chr2:47630412
GRCh38:
Chr2:47403273
MSH2E28*Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
35.
GRCh37:
Chr2:47630423-47630432
GRCh38:
Chr2:47403284-47403293
MSH2T32fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
36.
GRCh37:
Chr2:47630437
GRCh38:
Chr2:47403298
MSH2F37fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
37.
GRCh37:
Chr2:47630446
GRCh38:
Chr2:47403307
MSH2G40fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
38.
GRCh37:
Chr2:47630459
GRCh38:
Chr2:47403320
MSH2Y43*Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
39.
GRCh37:
Chr2:47630464-47630492
GRCh38:
Chr2:47403325-47403353
MSH2H46fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
40.
GRCh37:
Chr2:47630468
GRCh38:
Chr2:47403329
MSH2H46QLynch syndromeLikely benign
(Dec 19, 2018)
reviewed by expert panel
41.
GRCh37:
Chr2:47630472
GRCh38:
Chr2:47403333
MSH2E48*Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
42.
GRCh37:
Chr2:47630474
GRCh38:
Chr2:47403335
MSH2D49fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
43.
GRCh37:
Chr2:47630475-47630476
GRCh38:
Chr2:47403336-47403337
MSH2D49fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
44.
GRCh37:
Chr2:47630484-47630485
GRCh38:
Chr2:47403345-47403346
MSH2L52fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
45.
GRCh37:
Chr2:47630491
GRCh38:
Chr2:47403352
MSH2R55fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
46.
GRCh37:
Chr2:47630494
GRCh38:
Chr2:47403355
MSH2R55QLynch syndromeLikely benign
(Dec 19, 2018)
reviewed by expert panel
47.
GRCh37:
Chr2:47630494
GRCh38:
Chr2:47403355
MSH2E56fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
48.
GRCh37:
Chr2:47630496
GRCh38:
Chr2:47403357
MSH2E56*Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
49.
GRCh37:
Chr2:47630511
GRCh38:
Chr2:47403372
MSH2Q61*Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
50.
GRCh37:
Chr2:47630512-47630513
GRCh38:
Chr2:47403373-47403374
MSH2V63fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
51.
GRCh37:
Chr2:47630512-47630513
GRCh38:
Chr2:47403373-47403374
MSH2V63fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
52.
GRCh37:
Chr2:47630513
GRCh38:
Chr2:47403374
MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
53.
GRCh37:
Chr2:47630534
GRCh38:
Chr2:47403392
MSH2P69fs, P3fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
54.
GRCh37:
Chr2:47630550
GRCh38:
Chr2:47403411
MSH2Lynch syndromeBenign
(Sep 5, 2013)
reviewed by expert panel
55.
GRCh37:
Chr2:47630639
GRCh38:
Chr2:47403500
MSH2Lynch syndromeBenign
(Sep 5, 2013)
reviewed by expert panel
56.
GRCh37:
Chr2:47632107-47668733
GRCh38:
Chr2:47404968-47441594
MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
57.
GRCh37:
Chr2:47635062
GRCh38:
Chr2:47407923
MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
58.
GRCh37:
Chr2:47635538
GRCh38:
Chr2:47408399
MSH2Lynch syndromeLikely pathogenic
(Jun 21, 2019)
reviewed by expert panel
59.
GRCh37:
Chr2:47635539
GRCh38:
Chr2:47408400
MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
60.
GRCh37:
Chr2:47635541
GRCh38:
Chr2:47408402
MSH2Lynch syndrome 1Likely benign
(Jun 13, 2018)
reviewed by expert panel
61.
GRCh37:
Chr2:47635550-47635551
GRCh38:
Chr2:47408411-47408412
MSH2L75fs, L9fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
62.
GRCh37:
Chr2:47635554
GRCh38:
Chr2:47408415
MSH2Q76*, Q10*Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
63.
GRCh37:
Chr2:47635555-47635556
GRCh38:
Chr2:47408416-47408417
MSH2S11fs, S77fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
64.
GRCh37:
Chr2:47635571-47635601
GRCh38:
Chr2:47408432-47408462
MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
65.
GRCh37:
Chr2:47635572
GRCh38:
Chr2:47408433
MSH2K82*, K16*Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
66.
GRCh37:
Chr2:47635579-47635580
GRCh38:
Chr2:47408440-47408441
MSH2E86*, E20*Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
67.
GRCh37:
Chr2:47635583-47635584
GRCh38:
Chr2:47408444-47408445
MSH2F19fs, F85fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
68.
GRCh37:
Chr2:47635589-47635590
GRCh38:
Chr2:47408450-47408451
MSH2F88fs, F22fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
69.
GRCh37:
Chr2:47635595-47635596
GRCh38:
Chr2:47408456-47408457
MSH2Y32fs, Y98fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
70.
GRCh37:
Chr2:47635601-47635603
GRCh38:
Chr2:47408462-47408464
MSH2L94del, L28delLynch syndromeBenign
(Sep 5, 2013)
reviewed by expert panel
71.
GRCh37:
Chr2:47635605
GRCh38:
Chr2:47408466
MSH2L93F, L27FLynch syndromeLikely pathogenic
(Jun 21, 2019)
reviewed by expert panel
72.
GRCh37:
Chr2:47635606-47635607
GRCh38:
Chr2:47408467-47408468
MSH2L93fs, L27fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
73.
GRCh37:
Chr2:47635615
GRCh38:
Chr2:47408476
MSH2R96H, R30HLynch syndromeLikely benign
(Sep 5, 2013)
reviewed by expert panel
74.
GRCh37:
Chr2:47635617
GRCh38:
Chr2:47408478
MSH2Q97*, Q31*Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
75.
GRCh37:
Chr2:47635625-47635630
GRCh38:
Chr2:47408486-47408491
MSH2Lynch syndromeLikely pathogenic
(Jun 21, 2019)
reviewed by expert panel
76.
GRCh37:
Chr2:47635629
GRCh38:
Chr2:47408490
MSH2E101*, E35*Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
77.
GRCh37:
Chr2:47635632
GRCh38:
Chr2:47408493
MSH2V102I, V36ILynch syndromeLikely benign
(Sep 5, 2013)
reviewed by expert panel
78.
GRCh37:
Chr2:47635645
GRCh38:
Chr2:47408506
MSH2R106K, R40KLynch syndromeBenign
(Sep 5, 2013)
reviewed by expert panel
79.
GRCh37:
Chr2:47635667
GRCh38:
Chr2:47408528
MSH2Lynch syndromeBenign
(Sep 5, 2013)
reviewed by expert panel
80.
GRCh37:
Chr2:47635671
GRCh38:
Chr2:47408532
MSH2N115fs, N49fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
81.
GRCh37:
Chr2:47635673-47635676
GRCh38:
Chr2:47408534-47408537
MSH2D50fs, D116fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
82.
GRCh37:
Chr2:47635679-47635680
GRCh38:
Chr2:47408540-47408541
MSH2Y118fs, Y52fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
83.
GRCh37:
Chr2:47635691
GRCh38:
Chr2:47408552
MSH2Y121*, Y55*Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
84.
GRCh37:
Chr2:47635695
GRCh38:
Chr2:47408556
MSH2Lynch syndromeLikely pathogenic
(Jun 21, 2019)
reviewed by expert panel
85.
GRCh37:
Chr2:47636551-47638596
GRCh38:
Chr2:47409412-47411457
MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
86.
GRCh37:
Chr2:47636753-47638155
GRCh38:
Chr2:47409614-47411016
MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
87.
GRCh37:
Chr2:47636768-47638818
GRCh38:
Chr2:47409629-47411679
MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
88.
GRCh37:
Chr2:47636841-47639019
GRCh38:
Chr2:47409702-47411880
MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
89.
GRCh37:
Chr2:47637232
GRCh38:
Chr2:47410093
MSH2Lynch syndromeLikely pathogenic
(Jun 21, 2019)
reviewed by expert panel
90.
GRCh37:
Chr2:47637234
GRCh38:
Chr2:47410095
MSH2A123fs, A57fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
91.
GRCh37:
Chr2:47637246-47637247
GRCh38:
Chr2:47410107-47410108
MSH2N61fs, N127fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
92.
GRCh37:
Chr2:47637246
GRCh38:
Chr2:47410107
MSH2N127S, N61SLynch syndromeBenign
(Sep 5, 2013)
reviewed by expert panel
93.
GRCh37:
Chr2:47637247-47637248
GRCh38:
Chr2:47410108-47410109
MSH2Q130fs, Q64fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
94.
GRCh37:
Chr2:47637254-47637255
GRCh38:
Chr2:47410115-47410116
MSH2Q64fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
95.
GRCh37:
Chr2:47637265
GRCh38:
Chr2:47410126
MSH2D133fs, D67fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
96.
GRCh37:
Chr2:47637272
GRCh38:
Chr2:47410133
MSH2F136fs, F70fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
97.
GRCh37:
Chr2:47637281
GRCh38:
Chr2:47410142
MSH2N139fs, N73fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
98.
GRCh37:
Chr2:47637291
GRCh38:
Chr2:47410152
MSH2S142*, S76*Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
99.
GRCh37:
Chr2:47637317
GRCh38:
Chr2:47410178
MSH2M86fs, M152fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
100.
GRCh37:
Chr2:47637337
GRCh38:
Chr2:47410198
MSH2Lynch syndromeLikely benign
(Sep 5, 2013)
reviewed by expert panel
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