| - GRCh37:
- Chr2:47625602-47636880
- GRCh38:
- Chr2:47398463-47409741
| MSH2 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47628578-47638433
- GRCh38:
- Chr2:47401439-47411294
| MSH2 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47628886-47630425
- GRCh38:
- Chr2:47401747-47403286
| MSH2 | | Hereditary nonpolyposis colorectal neoplasms | Likely pathogenic
(Aug 4, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47629375-47651274
- GRCh38:
- Chr2:47402236-47424135
| MSH2 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47629508-47649552
- GRCh38:
- Chr2:47402369-47422413
| MSH2 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630206-47710367
- GRCh38:
- Chr2:47403067-47483228
| MSH2 | | Lynch syndrome | Pathogenic
(Oct 12, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630206-47635694
- GRCh38:
- Chr2:47403067-47408555
| MSH2 | | Lynch syndrome | Pathogenic
(Dec 20, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630206-47630541
- GRCh38:
- Chr2:47403067-47403402
| MSH2 | | Lynch syndrome | Pathogenic
(Dec 26, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630206-47656880
- GRCh38:
- Chr2:47403067-47429741
| MSH2 | | Lynch syndrome | Pathogenic
(Jan 15, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630206-47637511
- GRCh38:
- Chr2:47403067-47410372
| MSH2 | | Lynch syndrome | Pathogenic
(Jun 2, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630252-47630253
- GRCh38:
- Chr2:47403113-47403114
| MSH2 | | Lynch syndrome | Likely pathogenic
(Jun 21, 2019) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630263-47641557
- GRCh38:
- Chr2:47403124-47414418
| MSH2 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630263-47639699
- GRCh38:
- Chr2:47403124-47412560
| MSH2 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630263-47637511
- GRCh38:
- Chr2:47403124-47410372
| MSH2 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630263-47635694
- GRCh38:
- Chr2:47403124-47408555
| MSH2 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630263-47708010
- GRCh38:
- Chr2:47403124-47480871
| MSH2 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630263-47630541
- GRCh38:
- Chr2:47403124-47403402
| MSH2 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630263-47698201
- GRCh38:
- Chr2:47403124-47471062
| MSH2 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630263-47693947
- GRCh38:
- Chr2:47403124-47466808
| MSH2 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630263-47672796
- GRCh38:
- Chr2:47403124-47445657
| MSH2 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630263-47657080
- GRCh38:
- Chr2:47403124-47429941
| MSH2 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630263-47643568
- GRCh38:
- Chr2:47403124-47416429
| MSH2 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630311-47630641
- GRCh38:
- Chr2:47403172-47403502
| MSH2 | | Hereditary cancer-predisposing syndrome | Pathogenic
(Apr 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630321-47710098
- GRCh38:
- Chr2:47403182-47482959
| MSH2 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(May 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630321-47657090
- GRCh38:
- Chr2:47403182-47429951
| MSH2 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Dec 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630321-47632584
- GRCh38:
- Chr2:47403182-47405445
| MSH2 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Nov 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630321-47641567
- GRCh38:
- Chr2:47403182-47414428
| MSH2 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Apr 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630321-47635704
- GRCh38:
- Chr2:47403182-47408565
| MSH2 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Jan 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630321-47643578
- GRCh38:
- Chr2:47403182-47416439
| MSH2 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Nov 23, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630321-47630551
- GRCh38:
- Chr2:47403182-47403412
| MSH2 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Jul 16, 2019) | criteria provided, single submitter |
| - GRCh38:
- Chr2:47403186-47429947
| MSH2 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Feb 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630325-47637517
- GRCh38:
- Chr2:47403186-47410378
| MSH2 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(May 5, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630326-47631404
- GRCh38:
- Chr2:47403187-47404265
| MSH2 | | Carcinoma of colon | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:47630328-47631716
- GRCh38:
- Chr2:47403189-47404577
| MSH2 | | Carcinoma of colon | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:47630328-47631606
- GRCh38:
- Chr2:47403189-47404467
| MSH2 | | not provided | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:47630328-47630541
- GRCh38:
- Chr2:47403189-47403402
| MSH2 | | Carcinoma of colon | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:47630329-47633136
- GRCh38:
- Chr2:47403190-47405997
| MSH2 | | not provided | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:47630329-47630697
- GRCh38:
- Chr2:47403190-47403558
| MSH2 | | Carcinoma of colon | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:47630330-47643568
- GRCh38:
- Chr2:47403191-47416429
| MSH2 | | Lynch syndrome | Pathogenic
(Aug 27, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630336
- GRCh38:
- Chr2:47403197
| MSH2 | V3fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Jan 13, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630348
- GRCh38:
- Chr2:47403209
| MSH2 | E7fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Jun 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630350-47630351
- GRCh38:
- Chr2:47403211-47403212
| MSH2 | T8fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630350
- GRCh38:
- Chr2:47403211
| MSH2 | E7fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630351-47630352
- GRCh38:
- Chr2:47403212-47403213
| MSH2 | T8fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Jul 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630354-47630367
- GRCh38:
- Chr2:47403215-47403228
| MSH2 | L9fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Nov 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630358-47630359
- GRCh38:
- Chr2:47403219-47403220
| MSH2 | L11fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630358
- GRCh38:
- Chr2:47403219
| MSH2 | Q10* | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630362-47630363
- GRCh38:
- Chr2:47403223-47403224
| MSH2 | E12fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630366-47630375
- GRCh38:
- Chr2:47403227-47403236
| MSH2 | S13fs | not provided | Pathogenic
(Jul 6, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630372
- GRCh38:
- Chr2:47403233
| MSH2 | A15fs | Colorectal cancer | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:47630376-47630389
- GRCh38:
- Chr2:47403237-47403250
| MSH2 | E16fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Jul 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630381-47630391
- GRCh38:
- Chr2:47403242-47403252
| MSH2 | G18fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Aug 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630384-47630385
- GRCh38:
- Chr2:47403245-47403246
| MSH2 | F19fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Feb 13, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630397-47630398
- GRCh38:
- Chr2:47403258-47403259
| MSH2 | F23fs | Hereditary cancer-predisposing syndrome | Pathogenic
(May 18, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630400-47630401
- GRCh38:
- Chr2:47403261-47403262
| MSH2 | M26fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630403-47630404
- GRCh38:
- Chr2:47403264-47403265
| MSH2 | G25fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630405
- GRCh38:
- Chr2:47403266
| MSH2 | M26fs | Lynch syndrome, Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(May 2, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47630411
- GRCh38:
- Chr2:47403272
| MSH2 | E28fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630412
- GRCh38:
- Chr2:47403273
| MSH2 | E28* | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630415
- GRCh38:
- Chr2:47403276
| MSH2 | K29* | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630417-47630420
- GRCh38:
- Chr2:47403278-47403281
| MSH2 | T31fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(May 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630419-47630432
- GRCh38:
- Chr2:47403280-47403293
| MSH2 | T31fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Jun 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630422-47630423
- GRCh38:
- Chr2:47403283-47403284
| MSH2 | T32fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Nov 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630423-47630432
- GRCh38:
- Chr2:47403284-47403293
| MSH2 | T32fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630424-47630425
- GRCh38:
- Chr2:47403285-47403286
| MSH2 | T33fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Jan 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630426-47630427
- GRCh38:
- Chr2:47403287-47403288
| MSH2 | T33fs | Hereditary nonpolyposis colon cancer | Likely pathogenic
(Nov 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630428
- GRCh38:
- Chr2:47403289
| MSH2 | T33fs | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Jun 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47630430
- GRCh38:
- Chr2:47403291
| MSH2 | V34fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630431-47630432
- GRCh38:
- Chr2:47403292-47403293
| MSH2 | L36fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Mar 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630431-47630432
- GRCh38:
- Chr2:47403292-47403293
| MSH2 | R35fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630434-47634309
- GRCh38:
- Chr2:47403295-47407170
| MSH2 | | Hereditary nonpolyposis colorectal neoplasms | Likely pathogenic
(Jun 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630435
- GRCh38:
- Chr2:47403296
| MSH2 | L36fs | Hereditary cancer-predisposing syndrome | Pathogenic
(May 18, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630437
- GRCh38:
- Chr2:47403298
| MSH2 | F37fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630438-47630489
- GRCh38:
- Chr2:47403299-47403350
| MSH2 | F37fs | Hereditary cancer-predisposing syndrome | Likely pathogenic
(Feb 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630444
- GRCh38:
- Chr2:47403305
| MSH2 | R39fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630445-47630449
- GRCh38:
- Chr2:47403306-47403310
| MSH2 | G40fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Nov 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630446
- GRCh38:
- Chr2:47403307
| MSH2 | G40fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630449-47630450
- GRCh38:
- Chr2:47403310-47403311
| MSH2 | D41fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Apr 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630450-47630451
- GRCh38:
- Chr2:47403311-47403312
| MSH2 | E48fs | Hereditary cancer-predisposing syndrome | Pathogenic
(May 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630453-47630454
- GRCh38:
- Chr2:47403314-47403315
| MSH2 | Y43fs | Hereditary cancer-predisposing syndrome | Pathogenic
(May 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630459
- GRCh38:
- Chr2:47403320
| MSH2 | Y43* | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630460-47630461
- GRCh38:
- Chr2:47403321-47403322
| MSH2 | H46fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Jun 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630460-47630461
- GRCh38:
- Chr2:47403321-47403322
| MSH2 | T44fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Jan 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630464-47630492
- GRCh38:
- Chr2:47403325-47403353
| MSH2 | H46fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630471-47630484
- GRCh38:
- Chr2:47403332-47403345
| MSH2 | E48fs | Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
| Pathogenic
(Sep 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47630472
- GRCh38:
- Chr2:47403333
| MSH2 | E48* | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630474
- GRCh38:
- Chr2:47403335
| MSH2 | D49fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630475-47630476
- GRCh38:
- Chr2:47403336-47403337
| MSH2 | D49fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630482-47630483
- GRCh38:
- Chr2:47403343-47403344
| MSH2 | L52fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Jan 18, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630484-47630485
- GRCh38:
- Chr2:47403345-47403346
| MSH2 | L52fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630490
- GRCh38:
- Chr2:47403351
| MSH2 | A54fs | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome | Pathogenic
(Mar 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47630491-47630492
- GRCh38:
- Chr2:47403352-47403353
| MSH2 | R55fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630491-47630492
- GRCh38:
- Chr2:47403352-47403353
| MSH2 | R55fs | Hereditary cancer-predisposing syndrome | Likely pathogenic
(Apr 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630491
- GRCh38:
- Chr2:47403352
| MSH2 | R55fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630494-47630512
- GRCh38:
- Chr2:47403355-47403373
| MSH2 | E56fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630494-47630495
- GRCh38:
- Chr2:47403355-47403356
| MSH2 | E56fs | Hereditary cancer-predisposing syndrome | Likely pathogenic
(Apr 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630494
- GRCh38:
- Chr2:47403355
| MSH2 | E56fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630496
- GRCh38:
- Chr2:47403357
| MSH2 | E56* | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630497
- GRCh38:
- Chr2:47403358
| MSH2 | E56fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Aug 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47630498
- GRCh38:
- Chr2:47403359
| MSH2 | V57fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Apr 6, 2022) | criteria provided, single submitter |