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Items: 1 to 100 of 1714

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr2:47709913
Chr2:47709915
GRCh38:
Chr2:47482774
Chr2:47482776
MSH2, MSH2Lynch syndromeLikely pathogenic
(Jun 21, 2019)
reviewed by expert panelVCV000691526
2.
GRCh37:
Chr3:37081730
GRCh38:
Chr3:37040239
MLH1W538G, W180G, W197G, W440G, W297G, W505GLynch syndromeUncertain significance
(Dec 19, 2018)
reviewed by expert panelVCV000633500
3.
GRCh37:
Chr3:37050394
GRCh38:
Chr3:37008903
MLH1Lynch syndrome, Hereditary cancer-predisposing syndromePathogenic
(Oct 18, 2018)
reviewed by expert panelVCV000633499
4.
GRCh37:
Chr3:37050394
GRCh38:
Chr3:37008903
MLH1Lynch syndromeLikely pathogenic
(Oct 18, 2018)
reviewed by expert panelVCV000633498
5.
GRCh37:
Chr2:48026374
GRCh38:
Chr2:47799235
MSH6S418P, S116P, S288PLynch syndromeLikely pathogenic
(Oct 18, 2018)
reviewed by expert panelVCV000633497
6.
GRCh37:
Chr2:47703583
GRCh38:
Chr2:47476444
MSH2V695M, V629MLynch syndrome, Hereditary cancer-predisposing syndromePathogenic
(Oct 18, 2018)
reviewed by expert panelVCV000633496
7.
GRCh37:
Chr2:48026561
GRCh38:
Chr2:47799422
MSH6V480E, V178E, V350ELynch syndromePathogenic
(Dec 19, 2018)
reviewed by expert panelVCV000633495
8.
GRCh37:
Chr2:48030724
GRCh38:
Chr2:47803585
MSH6I1113S, I811S, I983SLynch syndromeUncertain significance
(Dec 19, 2018)
reviewed by expert panelVCV000633494
9.
GRCh37:
Chr2:47709964
GRCh38:
Chr2:47482825
MSH2M894R, M828RLynch syndromeLikely benign
(Dec 19, 2018)
reviewed by expert panelVCV000633493
10.
GRCh37:
Chr2:47630337
GRCh38:
Chr2:47403198
MSH2V3LLynch syndrome, Hereditary cancer-predisposing syndromeBenign
(Oct 18, 2018)
reviewed by expert panelVCV000630046
11.
GRCh37:
Chr3:37035012
Chr3:37035123
GRCh38:
Chr3:36993521
Chr3:36993632
MLH1, MLH1A29SLynch syndrome IPathogenic
(Mar 9, 2018)
reviewed by expert panelVCV000626261
12.
GRCh37:
Chr3:37048541
GRCh38:
Chr3:37007050
MLH1G147E, G49E, G114ELynch syndrome, Hereditary nonpolyposis colorectal neoplasmsLikely pathogenic
(Dec 19, 2018)
reviewed by expert panelVCV000574220
13.
GRCh37:
Chr2:48027356
GRCh38:
Chr2:47800217
MSH6I745N, I443N, I615NLynch syndrome ILikely pathogenic
(Jun 13, 2018)
reviewed by expert panelVCV000561175
14.
GRCh37:
Chr2:48026567
GRCh38:
Chr2:47799428
MSH6R482P, R180P, R352PLynch syndrome ILikely pathogenic
(Jun 13, 2018)
reviewed by expert panelVCV000561174
15.
GRCh37:
Chr2:47709916
GRCh38:
Chr2:47482777
MSH2Lynch syndrome I, Hereditary nonpolyposis colorectal neoplasmsLikely pathogenic
(Jun 13, 2018)
reviewed by expert panelVCV000561173
16.
GRCh37:
Chr3:37061839
GRCh38:
Chr3:37020348
MLH1H308P, H210P, H67P, H275PLynch syndrome ILikely pathogenic
(Jun 13, 2018)
reviewed by expert panelVCV000561172
17.
GRCh37:
Chr2:47643538-47643539
GRCh38:
Chr2:47416399-47416400
MSH2P283R, P349RLynch syndrome ILikely pathogenic
(Jun 13, 2018)
reviewed by expert panelVCV000561171
18.
GRCh37:
Chr3:37038109
GRCh38:
Chr3:36996618
MLH1Lynch syndrome ILikely pathogenic
(Jun 13, 2018)
reviewed by expert panelVCV000561170
19.
GRCh37:
Chr3:37035152
GRCh38:
Chr3:36993661
MLH1N38KLynch syndrome ILikely pathogenic
(Jun 13, 2018)
reviewed by expert panelVCV000561169
20.
GRCh37:
Chr2:48026222
GRCh38:
Chr2:47799083
MSH6H367R, H237R, H65RLynch syndrome IPathogenic
(Mar 9, 2018)
reviewed by expert panelVCV000520541
21.
GRCh37:
Chr3:37059033
GRCh38:
Chr3:37017542
MLH1I276R, I35R, I243R, I178RLynch syndrome IPathogenic
(Mar 9, 2018)
reviewed by expert panelVCV000520540
22.
GRCh37:
Chr3:37092070
GRCh38:
Chr3:37050579
MLH1H733Y, H392Y, H635Y, H664Y, H375Y, H700Y, H702Y, H492Y, H678YHereditary cancer-predisposing syndrome, Lynch syndrome ILikely benign
(Jun 13, 2018)
reviewed by expert panelVCV000479712
23.
GRCh37:
Chr2:47672754
GRCh38:
Chr2:47445615
MSH2not provided, Hereditary cancer-predisposing syndrome, Lynch syndrome I,
Hereditary nonpolyposis colorectal neoplasms
Likely benign
(Jun 13, 2018)
reviewed by expert panelVCV000455483
24.
GRCh37:
Chr2:48026609
GRCh38:
Chr2:47799470
MSH6C496Y, C366Y, C194YHereditary nonpolyposis colorectal neoplasms, Lynch syndrome I, Hereditary cancer-predisposing syndrome
Likely benign
(Jun 13, 2018)
reviewed by expert panelVCV000455141
25.
GRCh37:
Chr2:47705451
GRCh38:
Chr2:47478312
MSH2G751R, G685RLynch syndrome I, not provided, Hereditary cancer-predisposing syndrome
Likely pathogenic
(Jun 13, 2018)
reviewed by expert panelVCV000439192
26.
GRCh37:
Chr3:37059000
GRCh38:
Chr3:37017509
MLH1R265P, R167P, R24P, R232PLynch syndrome I, Hereditary cancer-predisposing syndrome, not provided,
Hereditary nonpolyposis colorectal neoplasms
Likely pathogenic
(Jun 13, 2018)
reviewed by expert panelVCV000433856
27.
GRCh37:
Chr2:47668609-47674613
GRCh38:
Chr2:47441470-47447474
MSH2Lynch syndrome IPathogenic
(Apr 20, 2016)
reviewed by expert panelVCV000427611
28.
GRCh37:
Chr2:47666463-47677632
GRCh38:
Chr2:47439324-47450493
MSH2Lynch syndrome IPathogenic
(Apr 20, 2016)
reviewed by expert panelVCV000427610
29.
GRCh37:
Chr2:47666403-47677572
GRCh38:
Chr2:47439264-47450433
MSH2Lynch syndrome IPathogenic
(Apr 20, 2016)
reviewed by expert panelVCV000427609
30.
GRCh37:
Chr2:47702383
GRCh38:
Chr2:47475244
MSH2D660G, D594GHereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome
Likely pathogenic
(Jun 21, 2019)
reviewed by expert panelVCV000427603
31.
GRCh37:
Chr2:47698109
GRCh38:
Chr2:47470970
MSH2L556W, L490WLynch syndrome ILikely pathogenic
(Mar 9, 2018)
reviewed by expert panelVCV000427602
32.
GRCh37:
Chr2:48026736-48026738
GRCh38:
Chr2:47799597-47799599
MSH6L540del, L410del, L238delHereditary nonpolyposis colorectal cancer type 5, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms,
not provided, Lynch syndrome
Pathogenic
(Oct 18, 2018)
reviewed by expert panelVCV000419037
33.
GRCh37:
Chr2:48027887
GRCh38:
Chr2:47800748
MSH6R922Q, R620Q, R792QLynch syndrome, not specified, Hereditary nonpolyposis colorectal neoplasms,
not provided, Hereditary cancer-predisposing syndrome
Likely benign
(Dec 19, 2018)
reviewed by expert panelVCV000410514
34.
GRCh37:
Chr2:48030574
GRCh38:
Chr2:47803435
MSH6L1063R, L761R, L933RLynch syndrome I, Lynch syndrome, Hereditary cancer-predisposing syndrome
Pathogenic
(Mar 9, 2018)
reviewed by expert panelVCV000410436
35.
GRCh37:
Chr2:47635541
GRCh38:
Chr2:47408402
MSH2Hereditary cancer-predisposing syndrome, not provided, Hereditary nonpolyposis colorectal neoplasms,
Lynch syndrome I
Likely benign
(Jun 13, 2018)
reviewed by expert panelVCV000237382
36.
GRCh37:
Chr3:37081770
GRCh38:
Chr3:37040279
MLH1N551S, N193S, N310S, N453S, N518S, N210SLynch syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome,
not provided, Carcinoma of colon
Benign
(Oct 18, 2018)
reviewed by expert panelVCV000237316
37.
GRCh37:
Chr2:48028028
GRCh38:
Chr2:47800889
MSH6Y969C, Y667C, Y839CHereditary nonpolyposis colorectal neoplasms, not provided, Lynch syndrome I,
Hereditary cancer-predisposing syndrome
Likely pathogenic
(Mar 9, 2018)
reviewed by expert panelVCV000234622
38.
GRCh37:
Chr2:48010375
GRCh38:
Chr2:47783236
MSH6M1ILynch syndrome, Hereditary cancer-predisposing syndrome, not provided,
Hereditary nonpolyposis colorectal neoplasms
Likely pathogenic
(Jun 21, 2019)
reviewed by expert panelVCV000232954
39.
GRCh37:
Chr3:37042544
GRCh38:
Chr3:37001053
MLH1Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome I, not provided,
Hereditary cancer-predisposing syndrome, not specified
Uncertain significance
(Jun 13, 2018)
reviewed by expert panelVCV000232603
40.
GRCh37:
Chr3:37061847
GRCh38:
Chr3:37020356
MLH1K311E, K213E, K278E, K70ELynch syndrome I, Hereditary cancer-predisposing syndrome, not specified,
Hereditary nonpolyposis colorectal neoplasms, not provided
Likely pathogenic
(Mar 9, 2018)
reviewed by expert panelVCV000230595
41.
GRCh37:
Chr2:47630494
GRCh38:
Chr2:47403355
MSH2R55Qnot provided, Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms,
Hereditary cancer-predisposing syndrome
Likely benign
(Dec 19, 2018)
reviewed by expert panelVCV000220448
42.
GRCh37:
Chr3:37048539
GRCh38:
Chr3:37007048
MLH1Lynch syndrome II, Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms,
Hereditary cancer-predisposing syndrome, Endometrial carcinoma, not provided,
not specified
Likely benign
(Oct 18, 2018)
reviewed by expert panelVCV000220186
43.
GRCh37:
Chr2:48032832
GRCh38:
Chr2:47805693
MSH6L1211P, L1081P, L909PHereditary nonpolyposis colorectal neoplasms, Lynch syndrome, Hereditary cancer-predisposing syndrome
Pathogenic
(Jun 21, 2019)
reviewed by expert panelVCV000219294
44.
PMS2Lynch syndrome IPathogenic
(Nov 24, 2015)
reviewed by expert panelVCV000219293
45.
GRCh37:
Chr3:37092136
GRCh38:
Chr3:37050645
MLH1R755G, R414G, R397G, R657G, R514G, R700G, R686G, R722G, R724GLynch syndrome IPathogenic
(Nov 24, 2015)
reviewed by expert panelVCV000219292
46.
GRCh37:
Chr3:37083767
GRCh38:
Chr3:37042276
MLH1L559P, L461P, L318P, L201P, L218P, L526Pnot provided, Lynch syndromeLikely pathogenic
(Jun 21, 2019)
reviewed by expert panelVCV000219290
47.
GRCh37:
Chr2:48028294
GRCh38:
Chr2:47801155
MSH6D1058H, D756H, D928HHereditary nonpolyposis colorectal neoplasms, Lynch syndrome, Carcinoma of colon,
Hereditary cancer-predisposing syndrome, not specified
Likely pathogenic
(Oct 18, 2018)
reviewed by expert panelVCV000218057
48.
GRCh37:
Chr2:47637357
GRCh38:
Chr2:47410218
MSH2G164E, G98EHereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
Likely pathogenic
(Nov 22, 2018)
reviewed by expert panelVCV000188119
49.
GRCh37:
Chr2:47703590
GRCh38:
Chr2:47476451
MSH2C697Y, C631YBreast and/or ovarian cancer, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms,
Lynch syndrome I
Likely pathogenic
(Mar 9, 2018)
reviewed by expert panelVCV000187518
50.
GRCh37:
Chr3:37038108
GRCh38:
Chr3:36996617
MLH1Hereditary cancer-predisposing syndrome, not provided, Lynch syndrome,
Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colorectal neoplasms
Pathogenic
(Oct 18, 2018)
reviewed by expert panelVCV000142856
51.
GRCh37:
Chr3:37067225
GRCh38:
Chr3:37025734
MLH1Y379C, Y138C, Y281C, Y38C, Y21C, Y346CHereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome,
not provided, Lynch syndrome II
Likely benign
(Dec 19, 2018)
reviewed by expert panelVCV000142276
52.
GRCh37:
Chr2:48027422
GRCh38:
Chr2:47800283
MSH6T767I, T465I, T637ILynch syndrome I, Hereditary cancer-predisposing syndrome, not specified,
Hereditary nonpolyposis colorectal cancer type 5, Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colorectal neoplasms,
Rhabdomyosarcoma, Carcinoma of colon
Pathogenic
(Mar 9, 2018)
reviewed by expert panelVCV000141058
53.
GRCh37:
Chr2:47702367
GRCh38:
Chr2:47475228
MSH2V655I, V589IHereditary nonpolyposis colorectal neoplasms, not specified, Lynch syndrome,
Hereditary cancer-predisposing syndrome, not provided, Lynch syndrome I
Uncertain significance
(Jun 13, 2018)
reviewed by expert panelVCV000127637
54.
GRCh37:
Chr3:37090479
GRCh38:
Chr3:37048988
MLH1S692P, S659P, S334P, S351P, S451P, S594P, S661P, S637PHereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided,
Lynch syndrome I
Benign
(Jun 13, 2018)
reviewed by expert panelVCV000127621
55.
GRCh37:
Chr2:48028285
GRCh38:
Chr2:47801146
MSH6A1055P, A753P, A925PHereditary nonpolyposis colorectal neoplasms, Lynch syndrome, Hereditary cancer-predisposing syndrome
Likely pathogenic
(Dec 19, 2018)
reviewed by expert panelVCV000126892
56.
GRCh37:
Chr2:48026743
GRCh38:
Chr2:47799604
MSH6S541R, S411R, S239RLynch syndrome, Hereditary cancer-predisposing syndromeLikely pathogenic
(Jun 21, 2019)
reviewed by expert panelVCV000126891
57.
GRCh37:
Chr7:6012870-6029586
GRCh38:
Chr7:5973239-5989955
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091387
58.
GRCh37:
Chr7:6029588
GRCh38:
Chr7:5989957
PMS2Lynch syndrome, Mismatch repair cancer syndrome 4, Hereditary nonpolyposis colorectal neoplasms,
not provided, Hereditary cancer-predisposing syndrome
Likely pathogenic
(Jun 21, 2019)
reviewed by expert panelVCV000091386
59.
GRCh37:
Chr7:6028725-6029882
GRCh38:
Chr7:5989094-5990251
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091385
60.
GRCh37:
Chr7:6031643
GRCh38:
Chr7:5992012
PMS2Q317*, Q182*, Q211*, Q214*, Q126*, Q6*Lynch syndrome, Hereditary cancer-predisposing syndrome, not provided,
Hereditary nonpolyposis colorectal neoplasms
Pathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091383
61.
GRCh37:
Chr7:6031649
GRCh38:
Chr7:5992018
PMS2R315*, R209*, R180*, R212*, R124*, R4*Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer, non-polyposis, not provided,
Hereditary nonpolyposis colorectal cancer type 4, Turcot syndrome, Hereditary nonpolyposis colorectal cancer type 4,
Malignant tumor of breast, Lynch syndrome, Hereditary cancer-predisposing syndrome
Pathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091382
62.
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091380
63.
GRCh37:
Chr7:6029431-6031688
GRCh38:
Chr7:5989800-5992057
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091379
64.
GRCh37:
Chr7:6012870-6031688
GRCh38:
Chr7:5973239-5992057
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091378
65.
GRCh37:
Chr7:6035165
GRCh38:
Chr7:5995534
PMS2K301N, K195N, K110N, K166N, K198Nnot provided, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome,
Hereditary nonpolyposis colorectal cancer type 4, Lynch syndrome
Likely pathogenic
(Jun 21, 2019)
reviewed by expert panelVCV000091377
66.
GRCh37:
Chr7:6035205-6035206
GRCh38:
Chr7:5995574-5995575
PMS2Q288fs, Q182fs, Q153fs, Q185fs, Q97fsnot provided, Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colon cancer,
Hereditary nonpolyposis colorectal cancer type 4, Hereditary cancer-predisposing syndrome, Lynch syndrome
Pathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091376
67.
GRCh37:
Chr7:6035204-6035207
GRCh38:
Chr7:5995573-5995576
PMS2R152fs, R181fs, R184fs, R287fs, R96fsHereditary cancer-predisposing syndrome, Turcot syndrome, Hereditary nonpolyposis colorectal neoplasms,
Hereditary nonpolyposis colorectal cancer type 4, not provided, Lynch syndrome
Pathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091375
68.
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091374
69.
GRCh37:
Chr7:6026390-6035264
GRCh38:
Chr7:5986759-5995633
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091373
70.
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091372
71.
GRCh37:
Chr7:6035507
GRCh38:
Chr7:5995876
PMS2Lynch syndromeBenign
(Sep 5, 2013)
reviewed by expert panelVCV000091371
72.
GRCh37:
Chr7:6036957-6036958
GRCh38:
Chr7:5997326-5997327
PMS2Y133fs, Y162fs, Y77fs, Y268fs, Y165fsHereditary nonpolyposis colorectal neoplasms, Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091369
73.
GRCh37:
Chr7:6036980
GRCh38:
Chr7:5997349
PMS2D155fs, D70fs, D126fs, D158fs, D261fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091367
74.
GRCh37:
Chr7:6037019-6037024
GRCh38:
Chr7:5997388-5997393
PMS2Hereditary nonpolyposis colorectal cancer type 4, Hereditary nonpolyposis colorectal neoplasms, Carcinoma of colon,
Turcot syndrome, not provided, Turcot syndrome,
Hereditary nonpolyposis colorectal cancer type 4, Burkitt lymphoma, Lymphoma,
Lynch syndrome, Hereditary cancer-predisposing syndrome ...see more
Pathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091366
75.
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091365
76.
GRCh37:
Chr7:6038738
GRCh38:
Chr7:5999107
PMS2Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
Likely pathogenic
(Jun 21, 2019)
reviewed by expert panelVCV000091364
77.
GRCh37:
Chr7:6038741
GRCh38:
Chr7:5999110
PMS2Q235*, Q100*, Q129*, Q132*Hereditary nonpolyposis colon cancer, not provided, Lynch syndrome,
Hereditary cancer-predisposing syndrome
Pathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091363
78.
GRCh37:
Chr7:6038747
GRCh38:
Chr7:5999116
PMS2Q233*, Q127*, Q98*, Q130*not provided, Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms,
Hereditary cancer-predisposing syndrome
Pathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091362
79.
GRCh37:
Chr7:6038850-6038851
GRCh38:
Chr7:5999219-5999220
PMS2R93fs, R96fs, R64fs, R199fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091360
80.
GRCh37:
Chr7:6038901
GRCh38:
Chr7:5999270
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091358
81.
GRCh37:
Chr7:6038283-6039384
GRCh38:
Chr7:5998652-5999753
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091357
82.
GRCh37:
Chr7:6039129
GRCh38:
Chr7:5999498
PMS2Lynch syndromeBenign
(Sep 5, 2013)
reviewed by expert panelVCV000091356
83.
GRCh37:
Chr7:6042237
GRCh38:
Chr7:6002606
PMS2not specified, Hereditary nonpolyposis colorectal cancer type 4, Hereditary nonpolyposis colorectal neoplasms,
Hereditary cancer-predisposing syndrome, Lynch syndrome, Breast neoplasm
Likely benign
(Sep 5, 2013)
reviewed by expert panelVCV000091355
84.
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091354
85.
GRCh37:
Chr7:6012870-6042267
GRCh38:
Chr7:5973239-6002636
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091353
86.
GRCh37:
Chr7:6043386
GRCh38:
Chr7:6003755
PMS2Hereditary nonpolyposis colorectal neoplasms, not provided, none provided,
Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome,
Hereditary nonpolyposis colorectal cancer type 4
Benign
(Sep 5, 2013)
reviewed by expert panelVCV000091350
87.
GRCh37:
Chr7:6043495
GRCh38:
Chr7:6003864
PMS2Lynch syndrome, not provided, not specified
Benign
(Sep 5, 2013)
reviewed by expert panelVCV000091346
88.
GRCh37:
Chr7:6043425
GRCh38:
Chr7:6003794
PMS2Lynch syndromeLikely pathogenic
(Jun 21, 2019)
reviewed by expert panelVCV000091345
89.
GRCh37:
Chr7:6017220
GRCh38:
Chr7:5977589
PMS2S815L, S709L, S763L, S504L, S628L, S680L, S691L, S712L, S624L, S826Lnot provided, Hereditary nonpolyposis colon cancer, Turcot syndrome,
Hereditary nonpolyposis colorectal cancer type 4, Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms,
Hereditary cancer-predisposing syndrome
Likely pathogenic
(Oct 18, 2018)
reviewed by expert panelVCV000091343
90.
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091342
91.
GRCh37:
Chr7:6045579-6045674
GRCh38:
Chr7:6005948-6006043
PMS2Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms, not provided
Pathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091341
92.
GRCh37:
Chr7:6017300-6017303
GRCh38:
Chr7:5977669-5977672
PMS2F601fs, F653fs, F682fs, F685fs, F597fs, F788fs, F477fs, F664fs, F736fs, F799fsnot provided, Hereditary nonpolyposis colorectal neoplasms, Mismatch repair cancer syndrome 4,
Hereditary cancer-predisposing syndrome, Lynch syndrome
Pathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091338
93.
GRCh37:
Chr7:6017324
GRCh38:
Chr7:5977693
PMS2Hereditary nonpolyposis colorectal cancer type 4, Hereditary nonpolyposis colorectal neoplasms, none provided,
Lynch syndrome, Endometrial carcinoma, not specified,
Hereditary cancer-predisposing syndrome
Benign
(Sep 5, 2013)
reviewed by expert panelVCV000091337
94.
GRCh37:
Chr7:6016429-6017479
GRCh38:
Chr7:5976798-5977848
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091336
95.
GRCh37:
Chr7:6015623-6017501
GRCh38:
Chr7:5975992-5977870
PMS2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091335
96.
GRCh37:
Chr7:6018256-6018259
GRCh38:
Chr7:5978625-5978628
PMS2K561fs, K696fs, K557fs, K645fs, K437fs, K613fs, K642fs, K748fsHereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal cancer type 4, Hereditary nonpolyposis colorectal neoplasms,
Lynch syndrome
Pathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091333
97.
GRCh37:
Chr7:6043632-6043633
GRCh38:
Chr7:6004001-6004002
PMS2G74fs, W2fsLynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panelVCV000091332
98.
GRCh37:
Chr7:6018306-6018310
GRCh38:
Chr7:5978675-5978679
PMS2L420fs, L625fs, L628fs, L679fs, L540fs, L544fs, L596fs, L731fsHereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal cancer type 4, Turcot syndrome,
Hereditary nonpolyposis colorectal cancer type 4, not provided, Lynch syndrome,
Hereditary cancer-predisposing syndrome
Pathogenic
(Jun 21, 2019)
reviewed by expert panelVCV000091331
99.
GRCh37:
Chr7:6018315-6018316
GRCh38:
Chr7:5978684-5978685
PMS2L538fs, L729fs, L542fs, L626fs, L677fs, L418fs, L594fs, L623fsLynch syndrome I, Mismatch repair cancer syndrome 4, Hereditary nonpolyposis colorectal cancer type 4,
Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome,
Endometrial carcinoma, Turcot syndrome, Lynch syndrome
Uncertain significance
(Jun 21, 2019)
reviewed by expert panelVCV000091330
100.
GRCh37:
Chr7:6022454
GRCh38:
Chr7:5982823
PMS2Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome, Hereditary nonpolyposis colorectal cancer type 4,
not provided, Hereditary cancer-predisposing syndrome
Pathogenic
(Mar 14, 2014)
reviewed by expert panelVCV000091329
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