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Items: 1 to 100 of 1714

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:47709913
Chr2:47709915
GRCh38:
Chr2:47482774
Chr2:47482776
MSH2, MSH2Lynch syndromeLikely pathogenic
(Jun 21, 2019)
reviewed by expert panel
2.
GRCh37:
Chr3:37081730
GRCh38:
Chr3:37040239
MLH1W538G, W180G, W197G, W440G, W297G, W505GLynch syndromeUncertain significance
(Dec 19, 2018)
reviewed by expert panel
3.
GRCh37:
Chr3:37050394
GRCh38:
Chr3:37008903
MLH1Lynch syndromePathogenic
(Oct 18, 2018)
reviewed by expert panel
4.
GRCh37:
Chr3:37050394
GRCh38:
Chr3:37008903
MLH1Lynch syndromeLikely pathogenic
(Oct 18, 2018)
reviewed by expert panel
5.
GRCh37:
Chr2:48026374
GRCh38:
Chr2:47799235
MSH6S418P, S116P, S288PLynch syndromeLikely pathogenic
(Oct 18, 2018)
reviewed by expert panel
6.
GRCh37:
Chr2:47703583
GRCh38:
Chr2:47476444
MSH2V695M, V629MLynch syndromePathogenic
(Oct 18, 2018)
reviewed by expert panel
7.
GRCh37:
Chr2:48026561
GRCh38:
Chr2:47799422
MSH6V480E, V178E, V350ELynch syndromePathogenic
(Dec 19, 2018)
reviewed by expert panel
8.
GRCh37:
Chr2:48030724
GRCh38:
Chr2:47803585
MSH6I1113S, I811S, I983SLynch syndromeUncertain significance
(Dec 19, 2018)
reviewed by expert panel
9.
GRCh37:
Chr2:47709964
GRCh38:
Chr2:47482825
MSH2M894R, M828RLynch syndromeLikely benign
(Dec 19, 2018)
reviewed by expert panel
10.
GRCh37:
Chr2:47630337
GRCh38:
Chr2:47403198
MSH2V3LLynch syndromeBenign
(Oct 18, 2018)
reviewed by expert panel
11.
GRCh37:
Chr3:37035012
Chr3:37035123
GRCh38:
Chr3:36993521
Chr3:36993632
MLH1, MLH1A29SLynch syndrome 1Pathogenic
(Mar 9, 2018)
reviewed by expert panel
12.
GRCh37:
Chr3:37048541
GRCh38:
Chr3:37007050
MLH1G147E, G49E, G114ELynch syndromeLikely pathogenic
(Dec 19, 2018)
reviewed by expert panel
13.
GRCh37:
Chr2:48027356
GRCh38:
Chr2:47800217
MSH6I745N, I443N, I615NLynch syndrome 1Likely pathogenic
(Jun 13, 2018)
reviewed by expert panel
14.
GRCh37:
Chr2:48026567
GRCh38:
Chr2:47799428
MSH6R482P, R180P, R352PLynch syndrome 1Likely pathogenic
(Jun 13, 2018)
reviewed by expert panel
15.
GRCh37:
Chr2:47709916
GRCh38:
Chr2:47482777
MSH2Lynch syndrome 1Likely pathogenic
(Jun 13, 2018)
reviewed by expert panel
16.
GRCh37:
Chr3:37061839
GRCh38:
Chr3:37020348
MLH1H308P, H210P, H67P, H275PLynch syndrome 1Likely pathogenic
(Jun 13, 2018)
reviewed by expert panel
17.
GRCh37:
Chr2:47643538-47643539
GRCh38:
Chr2:47416399-47416400
MSH2P283R, P349RLynch syndrome 1Likely pathogenic
(Jun 13, 2018)
reviewed by expert panel
18.
GRCh37:
Chr3:37038109
GRCh38:
Chr3:36996618
MLH1Lynch syndrome 1Likely pathogenic
(Jun 13, 2018)
reviewed by expert panel
19.
GRCh37:
Chr3:37035152
GRCh38:
Chr3:36993661
MLH1N38KLynch syndrome 1Likely pathogenic
(Jun 13, 2018)
reviewed by expert panel
20.
GRCh37:
Chr2:48026222
GRCh38:
Chr2:47799083
MSH6H367R, H237R, H65RLynch syndrome 1Pathogenic
(Mar 9, 2018)
reviewed by expert panel
21.
GRCh37:
Chr3:37059033
GRCh38:
Chr3:37017542
MLH1I276R, I35R, I243R, I178RLynch syndrome 1Pathogenic
(Mar 9, 2018)
reviewed by expert panel
22.
GRCh37:
Chr3:37092070
GRCh38:
Chr3:37050579
MLH1H733Y, H392Y, H635Y, H664Y, H375Y, H700Y, H702Y, H492Y, H678YLynch syndrome 1Likely benign
(Jun 13, 2018)
reviewed by expert panel
23.
GRCh37:
Chr2:47672754
GRCh38:
Chr2:47445615
MSH2Lynch syndrome 1Likely benign
(Jun 13, 2018)
reviewed by expert panel
24.
GRCh37:
Chr2:48026609
GRCh38:
Chr2:47799470
MSH6C496Y, C366Y, C194YLynch syndrome 1Likely benign
(Jun 13, 2018)
reviewed by expert panel
25.
GRCh37:
Chr2:47705451
GRCh38:
Chr2:47478312
MSH2G751R, G685RLynch syndrome 1Likely pathogenic
(Jun 13, 2018)
reviewed by expert panel
26.
GRCh37:
Chr3:37059000
GRCh38:
Chr3:37017509
MLH1R265P, R167P, R24P, R232PLynch syndrome 1Likely pathogenic
(Jun 13, 2018)
reviewed by expert panel
27.
GRCh37:
Chr2:47668609-47674613
GRCh38:
Chr2:47441470-47447474
MSH2Lynch syndrome 1Pathogenic
(Apr 20, 2016)
reviewed by expert panel
28.
GRCh37:
Chr2:47666463-47677632
GRCh38:
Chr2:47439324-47450493
MSH2Lynch syndrome 1Pathogenic
(Apr 20, 2016)
reviewed by expert panel
29.
GRCh37:
Chr2:47666403-47677572
GRCh38:
Chr2:47439264-47450433
MSH2Lynch syndrome 1Pathogenic
(Apr 20, 2016)
reviewed by expert panel
30.
GRCh37:
Chr2:47702383
GRCh38:
Chr2:47475244
MSH2D660G, D594GLynch syndromeLikely pathogenic
(Jun 21, 2019)
reviewed by expert panel
31.
GRCh37:
Chr2:47698109
GRCh38:
Chr2:47470970
MSH2L556W, L490WLynch syndrome 1Likely pathogenic
(Mar 9, 2018)
reviewed by expert panel
32.
GRCh37:
Chr2:48026736-48026738
GRCh38:
Chr2:47799597-47799599
MSH6L540del, L410del, L238delLynch syndromePathogenic
(Oct 18, 2018)
reviewed by expert panel
33.
GRCh37:
Chr2:48027887
GRCh38:
Chr2:47800748
MSH6R922Q, R620Q, R792QLynch syndromeLikely benign
(Dec 19, 2018)
reviewed by expert panel
34.
GRCh37:
Chr2:48030574
GRCh38:
Chr2:47803435
MSH6L1063R, L761R, L933RLynch syndrome 1Pathogenic
(Mar 9, 2018)
reviewed by expert panel
35.
GRCh37:
Chr2:47635541
GRCh38:
Chr2:47408402
MSH2Lynch syndrome 1Likely benign
(Jun 13, 2018)
reviewed by expert panel
36.
GRCh37:
Chr3:37081770
GRCh38:
Chr3:37040279
MLH1N551S, N193S, N310S, N453S, N518S, N210SLynch syndromeBenign
(Oct 18, 2018)
reviewed by expert panel
37.
GRCh37:
Chr2:48028028
GRCh38:
Chr2:47800889
MSH6Y969C, Y667C, Y839CLynch syndrome 1Likely pathogenic
(Mar 9, 2018)
reviewed by expert panel
38.
GRCh37:
Chr2:48010375
GRCh38:
Chr2:47783236
MSH6M1ILynch syndromeLikely pathogenic
(Jun 21, 2019)
reviewed by expert panel
39.
GRCh37:
Chr3:37042544
GRCh38:
Chr3:37001053
MLH1Lynch syndrome 1Uncertain significance
(Jun 13, 2018)
reviewed by expert panel
40.
GRCh37:
Chr3:37061847
GRCh38:
Chr3:37020356
MLH1K311E, K213E, K278E, K70ELynch syndrome 1Likely pathogenic
(Mar 9, 2018)
reviewed by expert panel
41.
GRCh37:
Chr2:47630494
GRCh38:
Chr2:47403355
MSH2R55QLynch syndromeLikely benign
(Dec 19, 2018)
reviewed by expert panel
42.
GRCh37:
Chr3:37048539
GRCh38:
Chr3:37007048
MLH1Lynch syndromeLikely benign
(Oct 18, 2018)
reviewed by expert panel
43.
GRCh37:
Chr2:48032832
GRCh38:
Chr2:47805693
MSH6L1211P, L1081P, L909PLynch syndromePathogenic
(Jun 21, 2019)
reviewed by expert panel
44.
PMS2Lynch syndrome 1Pathogenic
(Nov 24, 2015)
reviewed by expert panel
45.
GRCh37:
Chr3:37092136
GRCh38:
Chr3:37050645
MLH1R755G, R414G, R397G, R657G, R514G, R700G, R686G, R722G, R724GLynch syndrome 1Pathogenic
(Nov 24, 2015)
reviewed by expert panel
46.
GRCh37:
Chr3:37083767
GRCh38:
Chr3:37042276
MLH1L559P, L461P, L318P, L201P, L218P, L526PLynch syndromeLikely pathogenic
(Jun 21, 2019)
reviewed by expert panel
47.
GRCh37:
Chr2:48028294
GRCh38:
Chr2:47801155
MSH6D1058H, D756H, D928HLynch syndromeLikely pathogenic
(Oct 18, 2018)
reviewed by expert panel
48.
GRCh37:
Chr2:47637357
GRCh38:
Chr2:47410218
MSH2G164E, G98ELynch syndromeLikely pathogenic
(Nov 22, 2018)
reviewed by expert panel
49.
GRCh37:
Chr2:47703590
GRCh38:
Chr2:47476451
MSH2C697Y, C631YLynch syndrome 1Likely pathogenic
(Mar 9, 2018)
reviewed by expert panel
50.
GRCh37:
Chr3:37038108
GRCh38:
Chr3:36996617
MLH1Lynch syndromePathogenic
(Oct 18, 2018)
reviewed by expert panel
51.
GRCh37:
Chr3:37067225
GRCh38:
Chr3:37025734
MLH1Y379C, Y138C, Y281C, Y38C, Y21C, Y346CLynch syndromeLikely benign
(Dec 19, 2018)
reviewed by expert panel
52.
GRCh37:
Chr2:48027422
GRCh38:
Chr2:47800283
MSH6T767I, T465I, T637ILynch syndrome 1Pathogenic
(Mar 9, 2018)
reviewed by expert panel
53.
GRCh37:
Chr2:47702367
GRCh38:
Chr2:47475228
MSH2V655I, V589ILynch syndrome 1Uncertain significance
(Jun 13, 2018)
reviewed by expert panel
54.
GRCh37:
Chr3:37090479
GRCh38:
Chr3:37048988
MLH1S692P, S659P, S334P, S351P, S451P, S594P, S661P, S637PLynch syndrome 1Benign
(Jun 13, 2018)
reviewed by expert panel
55.
GRCh37:
Chr2:48028285
GRCh38:
Chr2:47801146
MSH6A1055P, A753P, A925PLynch syndromeLikely pathogenic
(Dec 19, 2018)
reviewed by expert panel
56.
GRCh37:
Chr2:48026743
GRCh38:
Chr2:47799604
MSH6S541R, S411R, S239RLynch syndromeLikely pathogenic
(Jun 21, 2019)
reviewed by expert panel
57.
GRCh37:
Chr7:6012870-6029586
GRCh38:
Chr7:5973239-5989955
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
58.
GRCh37:
Chr7:6029588
GRCh38:
Chr7:5989957
PMS2Lynch syndromeLikely pathogenic
(Jun 21, 2019)
reviewed by expert panel
59.
GRCh37:
Chr7:6028725-6029882
GRCh38:
Chr7:5989094-5990251
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
60.
GRCh37:
Chr7:6031643
GRCh38:
Chr7:5992012
PMS2Q317*, Q182*, Q211*, Q214*, Q126*, Q6*Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
61.
GRCh37:
Chr7:6031649
GRCh38:
Chr7:5992018
PMS2R315*, R209*, R180*, R212*, R124*, R4*Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
62.
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
63.
GRCh37:
Chr7:6029431-6031688
GRCh38:
Chr7:5989800-5992057
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
64.
GRCh37:
Chr7:6012870-6031688
GRCh38:
Chr7:5973239-5992057
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
65.
GRCh37:
Chr7:6035165
GRCh38:
Chr7:5995534
PMS2K301N, K195N, K110N, K166N, K198NLynch syndromeLikely pathogenic
(Jun 21, 2019)
reviewed by expert panel
66.
GRCh37:
Chr7:6035205-6035206
GRCh38:
Chr7:5995574-5995575
PMS2Q288fs, Q182fs, Q153fs, Q185fs, Q97fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
67.
GRCh37:
Chr7:6035204-6035207
GRCh38:
Chr7:5995573-5995576
PMS2R152fs, R181fs, R184fs, R287fs, R96fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
68.
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
69.
GRCh37:
Chr7:6026390-6035264
GRCh38:
Chr7:5986759-5995633
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
70.
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
71.
GRCh37:
Chr7:6035507
GRCh38:
Chr7:5995876
PMS2Lynch syndromeBenign
(Sep 5, 2013)
reviewed by expert panel
72.
GRCh37:
Chr7:6036957-6036958
GRCh38:
Chr7:5997326-5997327
PMS2Y133fs, Y162fs, Y77fs, Y268fs, Y165fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
73.
GRCh37:
Chr7:6036980
GRCh38:
Chr7:5997349
PMS2D155fs, D70fs, D126fs, D158fs, D261fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
74.
GRCh37:
Chr7:6037019-6037024
GRCh38:
Chr7:5997388-5997393
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
75.
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
76.
GRCh37:
Chr7:6038738
GRCh38:
Chr7:5999107
PMS2Lynch syndromeLikely pathogenic
(Jun 21, 2019)
reviewed by expert panel
77.
GRCh37:
Chr7:6038741
GRCh38:
Chr7:5999110
PMS2Q235*, Q100*, Q129*, Q132*Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
78.
GRCh37:
Chr7:6038747
GRCh38:
Chr7:5999116
PMS2Q233*, Q127*, Q98*, Q130*Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
79.
GRCh37:
Chr7:6038850-6038851
GRCh38:
Chr7:5999219-5999220
PMS2R93fs, R96fs, R64fs, R199fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
80.
GRCh37:
Chr7:6038901
GRCh38:
Chr7:5999270
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
81.
GRCh37:
Chr7:6038283-6039384
GRCh38:
Chr7:5998652-5999753
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
82.
GRCh37:
Chr7:6039129
GRCh38:
Chr7:5999498
PMS2Lynch syndromeBenign
(Sep 5, 2013)
reviewed by expert panel
83.
GRCh37:
Chr7:6042237
GRCh38:
Chr7:6002606
PMS2Lynch syndromeLikely benign
(Sep 5, 2013)
reviewed by expert panel
84.
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
85.
GRCh37:
Chr7:6012870-6042267
GRCh38:
Chr7:5973239-6002636
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
86.
GRCh37:
Chr7:6043386
GRCh38:
Chr7:6003755
PMS2Lynch syndromeBenign
(Sep 5, 2013)
reviewed by expert panel
87.
GRCh37:
Chr7:6043495
GRCh38:
Chr7:6003864
PMS2Lynch syndromeBenign
(Sep 5, 2013)
reviewed by expert panel
88.
GRCh37:
Chr7:6043425
GRCh38:
Chr7:6003794
PMS2Lynch syndromeLikely pathogenic
(Jun 21, 2019)
reviewed by expert panel
89.
GRCh37:
Chr7:6017220
GRCh38:
Chr7:5977589
PMS2S815L, S709L, S763L, S504L, S628L, S680L, S691L, S712L, S624L, S826LLynch syndromeLikely pathogenic
(Oct 18, 2018)
reviewed by expert panel
90.
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
91.
GRCh37:
Chr7:6045579-6045674
GRCh38:
Chr7:6005948-6006043
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
92.
GRCh37:
Chr7:6017300-6017303
GRCh38:
Chr7:5977669-5977672
PMS2F601fs, F653fs, F682fs, F685fs, F597fs, F788fs, F477fs, F664fs, F736fs, F799fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
93.
GRCh37:
Chr7:6017324
GRCh38:
Chr7:5977693
PMS2Lynch syndromeBenign
(Sep 5, 2013)
reviewed by expert panel
94.
GRCh37:
Chr7:6016429-6017479
GRCh38:
Chr7:5976798-5977848
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
95.
GRCh37:
Chr7:6015623-6017501
GRCh38:
Chr7:5975992-5977870
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
96.
GRCh37:
Chr7:6018256-6018259
GRCh38:
Chr7:5978625-5978628
PMS2K561fs, K696fs, K557fs, K645fs, K437fs, K613fs, K642fs, K748fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
97.
GRCh37:
Chr7:6043632-6043633
GRCh38:
Chr7:6004001-6004002
PMS2G74fs, W2fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
98.
GRCh37:
Chr7:6018306-6018310
GRCh38:
Chr7:5978675-5978679
PMS2L420fs, L625fs, L628fs, L679fs, L540fs, L544fs, L596fs, L731fsLynch syndromePathogenic
(Jun 21, 2019)
reviewed by expert panel
99.
GRCh37:
Chr7:6018315-6018316
GRCh38:
Chr7:5978684-5978685
PMS2L538fs, L729fs, L542fs, L626fs, L677fs, L418fs, L594fs, L623fsLynch syndromeUncertain significance
(Jun 21, 2019)
reviewed by expert panel
100.
GRCh37:
Chr7:6022454
GRCh38:
Chr7:5982823
PMS2Lynch syndromePathogenic
(Mar 14, 2014)
reviewed by expert panel
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