| - GRCh37:
- Chr2:47998510-48020183
- GRCh38:
- Chr2:47771371-47793044
| MSH6 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:48007276-48020272
- GRCh38:
- Chr2:47780137-47793133
| MSH6 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:48010221-48018262
- GRCh38:
- Chr2:47783082-47791123
| MSH6 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:48010242-48010243
- GRCh38:
- Chr2:47783103-47783104
| MSH6 | | Hereditary cancer-predisposing syndrome | Likely pathogenic
(Mar 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010363-48010642
- GRCh38:
- Chr2:47783224-47783503
| MSH6 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Mar 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010363-48018272
- GRCh38:
- Chr2:47783224-47791133
| MSH6 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Aug 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010363-48034009
- GRCh38:
- Chr2:47783224-47806870
| MSH6 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(May 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010367-48034005
- GRCh38:
- Chr2:47783228-47806866
| MSH6 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Feb 11, 2018) | criteria provided, single submitter |
| - GRCh38:
- Chr2:47783228-47805033
| MSH6 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Aug 16, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010367-48018268
- GRCh38:
- Chr2:47783228-47791129
| MSH6 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Aug 18, 2017) | criteria provided, single submitter |
| - GRCh38:
- Chr2:47783228-47783499
| MSH6 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Jan 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010369-48010415
- GRCh38:
- Chr2:47783230-47783276
| MSH6 | M1fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Dec 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010371-48014019
- GRCh38:
- Chr2:47783232-47786880
| MSH6 | | Carcinoma of colon | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:48010371-48014456
- GRCh38:
- Chr2:47783232-47787317
| MSH6 | | not provided | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:48010372-48010378
- GRCh38:
- Chr2:47783233-47783239
| MSH6 | | Hereditary cancer-predisposing syndrome | Pathogenic
(Oct 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010372-48018262
- GRCh38:
- Chr2:47783233-47791123
| MSH6 | | Lynch syndrome | Pathogenic
(May 28, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010373
- GRCh38:
- Chr2:47783234
| MSH6 | M1V | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms | Pathogenic/Likely pathogenic
(Feb 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010374
- GRCh38:
- Chr2:47783235
| MSH6 | M1T | Hereditary nonpolyposis colorectal neoplasms | Likely pathogenic
(Apr 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010375
- GRCh38:
- Chr2:47783236
| MSH6 | M1I | Hereditary cancer-predisposing syndrome | Pathogenic
(Jul 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010375
- GRCh38:
- Chr2:47783236
| MSH6 | M1I | Lynch syndrome | Likely pathogenic
(Jun 21, 2019) | reviewed by expert panel |
| - GRCh37:
- Chr2:48010378-48010385
- GRCh38:
- Chr2:47783239-47783246
| MSH6 | R3fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Oct 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010378-48010379
- GRCh38:
- Chr2:47783239-47783240
| MSH6 | R3* | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Mar 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010379
- GRCh38:
- Chr2:47783240
| MSH6 | R3* | Hereditary nonpolyposis colorectal neoplasms, not provided | Pathogenic/Likely pathogenic
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010382
- GRCh38:
- Chr2:47783243
| MSH6 | Q4* | Lynch syndrome 5, Mismatch repair cancer syndrome 3, Endometrial carcinoma,
Hereditary nonpolyposis colorectal neoplasms, Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome,
not provided, Lynch syndrome, Lynch syndrome 5
| Pathogenic/Likely pathogenic
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010396
- GRCh38:
- Chr2:47783257
| MSH6 | Y8* | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010396
- GRCh38:
- Chr2:47783257
| MSH6 | Y8* | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
| Pathogenic/Likely pathogenic
(Sep 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010404-48010405
- GRCh38:
- Chr2:47783265-47783266
| MSH6 | K13fs | not provided | Pathogenic
(Dec 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010406-48010439
- GRCh38:
- Chr2:47783267-47783300
| MSH6 | K13fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Aug 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010409
- GRCh38:
- Chr2:47783270
| MSH6 | K13* | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Oct 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010427
- GRCh38:
- Chr2:47783288
| MSH6 | D19fs | Lynch syndrome 5 | Likely pathogenic
(Oct 10, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010429-48010430
- GRCh38:
- Chr2:47783290-47783291
| MSH6 | A20fs | Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
| Pathogenic
(Jan 19, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010449
- GRCh38:
- Chr2:47783310
| MSH6 | A27fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Apr 6, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010452-48010455
- GRCh38:
- Chr2:47783313-47783316
| MSH6 | A27fs | not provided, Hereditary cancer-predisposing syndrome | Pathogenic
(Jul 1, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010455-48010456
- GRCh38:
- Chr2:47783316-47783317
| MSH6 | E30fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Aug 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010460-48010470
- GRCh38:
- Chr2:47783321-47783331
| MSH6 | E30fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Jun 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010460-48010472
- GRCh38:
- Chr2:47783321-47783333
| MSH6 | E30fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Aug 8, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010462-48010477
- GRCh38:
- Chr2:47783323-47783338
| MSH6 | G31fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Jul 8, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010463-48010477
- GRCh38:
- Chr2:47783324-47783338
| MSH6 | G31fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010463-48010473
- GRCh38:
- Chr2:47783324-47783334
| MSH6 | G31fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Jan 4, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010463
- GRCh38:
- Chr2:47783324
| MSH6 | G31fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Mar 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010464-48010473
- GRCh38:
- Chr2:47783325-47783334
| MSH6 | G31fs | Hereditary cancer-predisposing syndrome | Pathogenic
(May 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010468-48010474
- GRCh38:
- Chr2:47783329-47783335
| MSH6 | R33fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010468
- GRCh38:
- Chr2:47783329
| MSH6 | R33fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Mar 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010473-48010483
- GRCh38:
- Chr2:47783334-47783344
| MSH6 | A35fs | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Oct 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010478
- GRCh38:
- Chr2:47783339
| MSH6 | A36fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Apr 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010481-48010482
- GRCh38:
- Chr2:47783342-47783343
| MSH6 | G39fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Sep 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010482
- GRCh38:
- Chr2:47783343
| MSH6 | A40fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Apr 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010487
- GRCh38:
- Chr2:47783348
| MSH6 | A40fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Jun 18, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010491
- GRCh38:
- Chr2:47783352
| MSH6 | A40fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Oct 19, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010492-48010493
- GRCh38:
- Chr2:47783353-47783354
| MSH6 | P42fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Oct 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010496-48010497
- GRCh38:
- Chr2:47783357-47783358
| MSH6 | G45fs | Lynch syndrome 5 | Likely pathogenic
(Mar 15, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010507-48012506
- GRCh38:
- Chr2:47783368-47785367
| MSH6 | | Hereditary nonpolyposis colorectal neoplasms | Likely pathogenic
(Jul 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010508
- GRCh38:
- Chr2:47783369
| MSH6 | D47fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Nov 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010515-48010516
- GRCh38:
- Chr2:47783376-47783377
| MSH6 | P57fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Apr 4, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010516-48010532
- GRCh38:
- Chr2:47783377-47783393
| MSH6 | S51fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010522
- GRCh38:
- Chr2:47783383
| MSH6 | G32E, W50* | Hereditary cancer-predisposing syndrome | Pathogenic
(Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010526
- GRCh38:
- Chr2:47783387
| MSH6 | E52* | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Aug 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010530-48010542
- GRCh38:
- Chr2:47783391-47783403
| MSH6 | G56fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Apr 27, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010535-48010547
- GRCh38:
- Chr2:47783396-47783408
| MSH6 | G56fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Dec 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010535-48010548
- GRCh38:
- Chr2:47783396-47783409
| MSH6 | P55fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Jan 4, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010537-48010550
- GRCh38:
- Chr2:47783398-47783411
| MSH6 | G56fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Dec 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010537-48010546
- GRCh38:
- Chr2:47783398-47783407
| MSH6 | G56fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Oct 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010539-48010551
- GRCh38:
- Chr2:47783400-47783412
| MSH6 | P57fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Feb 18, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010540-48010541
- GRCh38:
- Chr2:47783401-47783402
| MSH6 | P57fs | Hereditary cancer-predisposing syndrome | Pathogenic
(May 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010541
- GRCh38:
- Chr2:47783402
| MSH6 | R58fs | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms | Pathogenic/Likely pathogenic
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010551
- GRCh38:
- Chr2:47783412
| MSH6 | L60*, W42R | Hereditary cancer-predisposing syndrome | Pathogenic
(Jul 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010553-48010554
- GRCh38:
- Chr2:47783414-47783415
| MSH6 | R62fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010566
- GRCh38:
- Chr2:47783427
| MSH6 | S65*, H47N | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010574
- GRCh38:
- Chr2:47783435
| MSH6 | K68* | Hereditary cancer-predisposing syndrome | Pathogenic
(Sep 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010584-48010627
- GRCh38:
- Chr2:47783445-47783488
| MSH6 | L72fs | Lynch syndrome 5 | Likely pathogenic
(Sep 20, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010592
- GRCh38:
- Chr2:47783453
| MSH6 | G74* | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Endometrial carcinoma,
Mismatch repair cancer syndrome 3, Lynch syndrome 5 | Pathogenic
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010604-48010605
- GRCh38:
- Chr2:47783465-47783466
| MSH6 | T86fs | not provided | Pathogenic
(Nov 30, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010607-48010610
- GRCh38:
- Chr2:47783468-47783471
| MSH6 | | Hereditary cancer-predisposing syndrome | Pathogenic
(Apr 13, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010617-48010618
- GRCh38:
- Chr2:47783478-47783479
| MSH6 | A83fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Aug 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010622-48010623
- GRCh38:
- Chr2:47783483-47783484
| MSH6 | T86fs | Hereditary cancer-predisposing syndrome | Pathogenic
(May 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010623
- GRCh38:
- Chr2:47783484
| MSH6 | T86fs | not provided | Pathogenic
(Nov 12, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010633
- GRCh38:
- Chr2:47783494
| MSH6 | | Hereditary cancer-predisposing syndrome | Likely pathogenic
(Sep 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010634
- GRCh38:
- Chr2:47783495
| MSH6 | | Hereditary cancer-predisposing syndrome | Likely pathogenic
(Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010634
- GRCh38:
- Chr2:47783495
| MSH6 | | Hereditary nonpolyposis colorectal neoplasms | Likely pathogenic
(Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010634
- GRCh38:
- Chr2:47783495
| MSH6 | | not provided | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:48010634-48010635
- GRCh38:
- Chr2:47783495-47783496
| MSH6 | | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, not provided
| Pathogenic/Likely pathogenic
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48014829-48033431
- GRCh38:
- Chr2:47787690-47806292
| MSH6 | | Lynch syndrome | Pathogenic
(Jun 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48018056-48018272
- GRCh38:
- Chr2:47790917-47791133
| MSH6 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Oct 30, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48018056-48028304
- GRCh38:
- Chr2:47790917-47801165
| MSH6 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48018064
- GRCh38:
- Chr2:47790925
| MSH6 | | Hereditary cancer-predisposing syndrome | Likely pathogenic
(Sep 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48018065
- GRCh38:
- Chr2:47790926
| MSH6 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48018065
- GRCh38:
- Chr2:47790926
| MSH6 | | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided,
Hereditary nonpolyposis colon cancer | Pathogenic/Likely pathogenic
(Jan 3, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48018066-48018075
- GRCh38:
- Chr2:47790927-47790936
| MSH6 | C88fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48018066-48018262
- GRCh38:
- Chr2:47790927-47791123
| MSH6 | | Lynch syndrome | Pathogenic
(Oct 12, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48018066-48028294
- GRCh38:
- Chr2:47790927-47801155
| MSH6 | | Lynch syndrome | Pathogenic
(Aug 30, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48018067-48018068
- GRCh38:
- Chr2:47790928-47790929
| MSH6 | C88fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Jul 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48018069
- GRCh38:
- Chr2:47790930
| MSH6 | C88* | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Nov 27, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48018081
- GRCh38:
- Chr2:47790942
| MSH6 | G93fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Feb 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48018094-48018103
- GRCh38:
- Chr2:47790955-47790964
| MSH6 | A98fs | Hereditary nonpolyposis colorectal neoplasms, not provided | Pathogenic
(Jan 24, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48018095
- GRCh38:
- Chr2:47790956
| MSH6 | W129*, W97*, W41*, W71* | Hereditary cancer-predisposing syndrome | Pathogenic
(Jul 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48018114
- GRCh38:
- Chr2:47790975
| MSH6 | Y103* | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
| Pathogenic/Likely pathogenic
(Aug 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48018118
- GRCh38:
- Chr2:47790979
| MSH6 | W105fs | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome | Pathogenic
(Apr 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48018119
- GRCh38:
- Chr2:47790980
| MSH6 | W137*, W105*, W49*, W6*, W79* | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48018119
- GRCh38:
- Chr2:47790980
| MSH6 | W105fs | Hereditary cancer-predisposing syndrome | Pathogenic
(May 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48018120
- GRCh38:
- Chr2:47790981
| MSH6 | W105* | Hereditary cancer-predisposing syndrome | Pathogenic
(Nov 21, 2017) | criteria provided, single submitter |