| - GRCh37:
- Chr2:47709913
- Chr2:47709915
- GRCh38:
- Chr2:47482774
- Chr2:47482776
| MSH2, MSH2 | | Lynch syndrome | Likely pathogenic (Jun 21, 2019) | reviewed by expert panel |
| - GRCh37:
- Chr3:37081730
- GRCh38:
- Chr3:37040239
| MLH1 | W538G, W180G, W197G, W440G, W297G, W505G | Lynch syndrome | Uncertain significance (Dec 19, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr3:37050394
- GRCh38:
- Chr3:37008903
| MLH1 | | Lynch syndrome | Pathogenic (Oct 18, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr3:37050394
- GRCh38:
- Chr3:37008903
| MLH1 | | Lynch syndrome | Likely pathogenic (Oct 18, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:48026374
- GRCh38:
- Chr2:47799235
| MSH6 | S418P, S116P, S288P | Lynch syndrome | Likely pathogenic (Oct 18, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:47703583
- GRCh38:
- Chr2:47476444
| MSH2 | V695M, V629M | Lynch syndrome | Pathogenic (Oct 18, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:48026561
- GRCh38:
- Chr2:47799422
| MSH6 | V480E, V178E, V350E | Lynch syndrome | Pathogenic (Dec 19, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:48030724
- GRCh38:
- Chr2:47803585
| MSH6 | I1113S, I811S, I983S | Lynch syndrome | Uncertain significance (Dec 19, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:47709964
- GRCh38:
- Chr2:47482825
| MSH2 | M894R, M828R | Lynch syndrome | Likely benign (Dec 19, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630337
- GRCh38:
- Chr2:47403198
| MSH2 | V3L | Lynch syndrome | Benign (Oct 18, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035012
- Chr3:37035123
- GRCh38:
- Chr3:36993521
- Chr3:36993632
| MLH1, MLH1 | A29S | Lynch syndrome 1 | Pathogenic (Mar 9, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr3:37048541
- GRCh38:
- Chr3:37007050
| MLH1 | G147E, G49E, G114E | Lynch syndrome | Likely pathogenic (Dec 19, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:48027356
- GRCh38:
- Chr2:47800217
| MSH6 | I745N, I443N, I615N | Lynch syndrome 1 | Likely pathogenic (Jun 13, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:48026567
- GRCh38:
- Chr2:47799428
| MSH6 | R482P, R180P, R352P | Lynch syndrome 1 | Likely pathogenic (Jun 13, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:47709916
- GRCh38:
- Chr2:47482777
| MSH2 | | Lynch syndrome 1 | Likely pathogenic (Jun 13, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr3:37061839
- GRCh38:
- Chr3:37020348
| MLH1 | H308P, H210P, H67P, H275P | Lynch syndrome 1 | Likely pathogenic (Jun 13, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:47643538-47643539
- GRCh38:
- Chr2:47416399-47416400
| MSH2 | P283R, P349R | Lynch syndrome 1 | Likely pathogenic (Jun 13, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr3:37038109
- GRCh38:
- Chr3:36996618
| MLH1 | | Lynch syndrome 1 | Likely pathogenic (Jun 13, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035152
- GRCh38:
- Chr3:36993661
| MLH1 | N38K | Lynch syndrome 1 | Likely pathogenic (Jun 13, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:48026222
- GRCh38:
- Chr2:47799083
| MSH6 | H367R, H237R, H65R | Lynch syndrome 1 | Pathogenic (Mar 9, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr3:37059033
- GRCh38:
- Chr3:37017542
| MLH1 | I276R, I35R, I243R, I178R | Lynch syndrome 1 | Pathogenic (Mar 9, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr3:37092070
- GRCh38:
- Chr3:37050579
| MLH1 | H733Y, H392Y, H635Y, H664Y, H375Y, H700Y, H702Y, H492Y, H678Y | Lynch syndrome 1 | Likely benign (Jun 13, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:47672754
- GRCh38:
- Chr2:47445615
| MSH2 | | Lynch syndrome 1 | Likely benign (Jun 13, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:48026609
- GRCh38:
- Chr2:47799470
| MSH6 | C496Y, C366Y, C194Y | Lynch syndrome 1 | Likely benign (Jun 13, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:47705451
- GRCh38:
- Chr2:47478312
| MSH2 | G751R, G685R | Lynch syndrome 1 | Likely pathogenic (Jun 13, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr3:37059000
- GRCh38:
- Chr3:37017509
| MLH1 | R265P, R167P, R24P, R232P | Lynch syndrome 1 | Likely pathogenic (Jun 13, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:47668609-47674613
- GRCh38:
- Chr2:47441470-47447474
| MSH2 | | Lynch syndrome 1 | Pathogenic (Apr 20, 2016) | reviewed by expert panel |
| - GRCh37:
- Chr2:47666463-47677632
- GRCh38:
- Chr2:47439324-47450493
| MSH2 | | Lynch syndrome 1 | Pathogenic (Apr 20, 2016) | reviewed by expert panel |
| - GRCh37:
- Chr2:47666403-47677572
- GRCh38:
- Chr2:47439264-47450433
| MSH2 | | Lynch syndrome 1 | Pathogenic (Apr 20, 2016) | reviewed by expert panel |
| - GRCh37:
- Chr2:47702383
- GRCh38:
- Chr2:47475244
| MSH2 | D660G, D594G | Lynch syndrome | Likely pathogenic (Jun 21, 2019) | reviewed by expert panel |
| - GRCh37:
- Chr2:47698109
- GRCh38:
- Chr2:47470970
| MSH2 | L556W, L490W | Lynch syndrome 1 | Likely pathogenic (Mar 9, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:48026736-48026738
- GRCh38:
- Chr2:47799597-47799599
| MSH6 | L540del, L410del, L238del | Lynch syndrome | Pathogenic (Oct 18, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:48027887
- GRCh38:
- Chr2:47800748
| MSH6 | R922Q, R620Q, R792Q | Lynch syndrome | Likely benign (Dec 19, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:48030574
- GRCh38:
- Chr2:47803435
| MSH6 | L1063R, L761R, L933R | Lynch syndrome 1 | Pathogenic (Mar 9, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:47635541
- GRCh38:
- Chr2:47408402
| MSH2 | | Lynch syndrome 1 | Likely benign (Jun 13, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr3:37081770
- GRCh38:
- Chr3:37040279
| MLH1 | N551S, N193S, N310S, N453S, N518S, N210S | Lynch syndrome | Benign (Oct 18, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:48028028
- GRCh38:
- Chr2:47800889
| MSH6 | Y969C, Y667C, Y839C | Lynch syndrome 1 | Likely pathogenic (Mar 9, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:48010375
- GRCh38:
- Chr2:47783236
| MSH6 | M1I | Lynch syndrome | Likely pathogenic (Jun 21, 2019) | reviewed by expert panel |
| - GRCh37:
- Chr3:37042544
- GRCh38:
- Chr3:37001053
| MLH1 | | Lynch syndrome 1 | Uncertain significance (Jun 13, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr3:37061847
- GRCh38:
- Chr3:37020356
| MLH1 | K311E, K213E, K278E, K70E | Lynch syndrome 1 | Likely pathogenic (Mar 9, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630494
- GRCh38:
- Chr2:47403355
| MSH2 | R55Q | Lynch syndrome | Likely benign (Dec 19, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr3:37048539
- GRCh38:
- Chr3:37007048
| MLH1 | | Lynch syndrome | Likely benign (Oct 18, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:48032832
- GRCh38:
- Chr2:47805693
| MSH6 | L1211P, L1081P, L909P | Lynch syndrome | Pathogenic (Jun 21, 2019) | reviewed by expert panel |
| | PMS2 | | Lynch syndrome 1 | Pathogenic (Nov 24, 2015) | reviewed by expert panel |
| - GRCh37:
- Chr3:37092136
- GRCh38:
- Chr3:37050645
| MLH1 | R755G, R414G, R397G, R657G, R514G, R700G, R686G, R722G, R724G | Lynch syndrome 1 | Pathogenic (Nov 24, 2015) | reviewed by expert panel |
| - GRCh37:
- Chr3:37083767
- GRCh38:
- Chr3:37042276
| MLH1 | L559P, L461P, L318P, L201P, L218P, L526P | Lynch syndrome | Likely pathogenic (Jun 21, 2019) | reviewed by expert panel |
| - GRCh37:
- Chr2:48028294
- GRCh38:
- Chr2:47801155
| MSH6 | D1058H, D756H, D928H | Lynch syndrome | Likely pathogenic (Oct 18, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:47637357
- GRCh38:
- Chr2:47410218
| MSH2 | G164E, G98E | Lynch syndrome | Likely pathogenic (Nov 22, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:47703590
- GRCh38:
- Chr2:47476451
| MSH2 | C697Y, C631Y | Lynch syndrome 1 | Likely pathogenic (Mar 9, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr3:37038108
- GRCh38:
- Chr3:36996617
| MLH1 | | Lynch syndrome | Pathogenic (Oct 18, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr3:37067225
- GRCh38:
- Chr3:37025734
| MLH1 | Y379C, Y138C, Y281C, Y38C, Y21C, Y346C | Lynch syndrome | Likely benign (Dec 19, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:48027422
- GRCh38:
- Chr2:47800283
| MSH6 | T767I, T465I, T637I | Lynch syndrome 1 | Pathogenic (Mar 9, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:47702367
- GRCh38:
- Chr2:47475228
| MSH2 | V655I, V589I | Lynch syndrome 1 | Uncertain significance (Jun 13, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr3:37090479
- GRCh38:
- Chr3:37048988
| MLH1 | S692P, S659P, S334P, S351P, S451P, S594P, S661P, S637P | Lynch syndrome 1 | Benign (Jun 13, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:48028285
- GRCh38:
- Chr2:47801146
| MSH6 | A1055P, A753P, A925P | Lynch syndrome | Likely pathogenic (Dec 19, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:48026743
- GRCh38:
- Chr2:47799604
| MSH6 | S541R, S411R, S239R | Lynch syndrome | Likely pathogenic (Jun 21, 2019) | reviewed by expert panel |
| - GRCh37:
- Chr7:6012870-6029586
- GRCh38:
- Chr7:5973239-5989955
| PMS2 | | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6029588
- GRCh38:
- Chr7:5989957
| PMS2 | | Lynch syndrome | Likely pathogenic (Jun 21, 2019) | reviewed by expert panel |
| - GRCh37:
- Chr7:6028725-6029882
- GRCh38:
- Chr7:5989094-5990251
| PMS2 | | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6031643
- GRCh38:
- Chr7:5992012
| PMS2 | Q317*, Q182*, Q211*, Q214*, Q126*, Q6* | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6031649
- GRCh38:
- Chr7:5992018
| PMS2 | R315*, R209*, R180*, R212*, R124*, R4* | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| | PMS2 | | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6029431-6031688
- GRCh38:
- Chr7:5989800-5992057
| PMS2 | | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6012870-6031688
- GRCh38:
- Chr7:5973239-5992057
| PMS2 | | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6035165
- GRCh38:
- Chr7:5995534
| PMS2 | K301N, K195N, K110N, K166N, K198N | Lynch syndrome | Likely pathogenic (Jun 21, 2019) | reviewed by expert panel |
| - GRCh37:
- Chr7:6035205-6035206
- GRCh38:
- Chr7:5995574-5995575
| PMS2 | Q288fs, Q182fs, Q153fs, Q185fs, Q97fs | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6035204-6035207
- GRCh38:
- Chr7:5995573-5995576
| PMS2 | R152fs, R181fs, R184fs, R287fs, R96fs | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| | PMS2 | | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6026390-6035264
- GRCh38:
- Chr7:5986759-5995633
| PMS2 | | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| | PMS2 | | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6035507
- GRCh38:
- Chr7:5995876
| PMS2 | | Lynch syndrome | Benign (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6036957-6036958
- GRCh38:
- Chr7:5997326-5997327
| PMS2 | Y133fs, Y162fs, Y77fs, Y268fs, Y165fs | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6036980
- GRCh38:
- Chr7:5997349
| PMS2 | D155fs, D70fs, D126fs, D158fs, D261fs | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6037019-6037024
- GRCh38:
- Chr7:5997388-5997393
| PMS2 | | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| | PMS2 | | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6038738
- GRCh38:
- Chr7:5999107
| PMS2 | | Lynch syndrome | Likely pathogenic (Jun 21, 2019) | reviewed by expert panel |
| - GRCh37:
- Chr7:6038741
- GRCh38:
- Chr7:5999110
| PMS2 | Q235*, Q100*, Q129*, Q132* | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6038747
- GRCh38:
- Chr7:5999116
| PMS2 | Q233*, Q127*, Q98*, Q130* | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6038850-6038851
- GRCh38:
- Chr7:5999219-5999220
| PMS2 | R93fs, R96fs, R64fs, R199fs | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6038901
- GRCh38:
- Chr7:5999270
| PMS2 | | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6038283-6039384
- GRCh38:
- Chr7:5998652-5999753
| PMS2 | | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6039129
- GRCh38:
- Chr7:5999498
| PMS2 | | Lynch syndrome | Benign (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6042237
- GRCh38:
- Chr7:6002606
| PMS2 | | Lynch syndrome | Likely benign (Sep 5, 2013) | reviewed by expert panel |
| | PMS2 | | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6012870-6042267
- GRCh38:
- Chr7:5973239-6002636
| PMS2 | | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6043386
- GRCh38:
- Chr7:6003755
| PMS2 | | Lynch syndrome | Benign (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6043495
- GRCh38:
- Chr7:6003864
| PMS2 | | Lynch syndrome | Benign (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6043425
- GRCh38:
- Chr7:6003794
| PMS2 | | Lynch syndrome | Likely pathogenic (Jun 21, 2019) | reviewed by expert panel |
| - GRCh37:
- Chr7:6017220
- GRCh38:
- Chr7:5977589
| PMS2 | S815L, S709L, S763L, S504L, S628L, S680L, S691L, S712L, S624L, S826L | Lynch syndrome | Likely pathogenic (Oct 18, 2018) | reviewed by expert panel |
| | PMS2 | | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6045579-6045674
- GRCh38:
- Chr7:6005948-6006043
| PMS2 | | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6017300-6017303
- GRCh38:
- Chr7:5977669-5977672
| PMS2 | F601fs, F653fs, F682fs, F685fs, F597fs, F788fs, F477fs, F664fs, F736fs, F799fs | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6017324
- GRCh38:
- Chr7:5977693
| PMS2 | | Lynch syndrome | Benign (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6016429-6017479
- GRCh38:
- Chr7:5976798-5977848
| PMS2 | | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6015623-6017501
- GRCh38:
- Chr7:5975992-5977870
| PMS2 | | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6018256-6018259
- GRCh38:
- Chr7:5978625-5978628
| PMS2 | K561fs, K696fs, K557fs, K645fs, K437fs, K613fs, K642fs, K748fs | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6043632-6043633
- GRCh38:
- Chr7:6004001-6004002
| PMS2 | G74fs, W2fs | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6018306-6018310
- GRCh38:
- Chr7:5978675-5978679
| PMS2 | L420fs, L625fs, L628fs, L679fs, L540fs, L544fs, L596fs, L731fs | Lynch syndrome | Pathogenic (Jun 21, 2019) | reviewed by expert panel |
| - GRCh37:
- Chr7:6018315-6018316
- GRCh38:
- Chr7:5978684-5978685
| PMS2 | L538fs, L729fs, L542fs, L626fs, L677fs, L418fs, L594fs, L623fs | Lynch syndrome | Uncertain significance (Jun 21, 2019) | reviewed by expert panel |
| - GRCh37:
- Chr7:6022454
- GRCh38:
- Chr7:5982823
| PMS2 | | Lynch syndrome | Pathogenic (Mar 14, 2014) | reviewed by expert panel |