| - GRCh37:
- Chr3:37059022
- GRCh38:
- Chr3:37017531
| MLH1 | R240fs, R32fs, R175fs, R273fs | Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 2, Turcot syndrome,
Muir-Torré syndrome, Hereditary nonpolyposis colorectal neoplasms | Pathogenic/Likely pathogenic
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010683-48030509
| MSH6 | | Turcot syndrome | Likely pathogenic
(Sep 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48033378-48033379
- GRCh38:
- Chr2:47806239-47806240
| MSH6 | N1099fs, N1229fs, N927fs | Turcot syndrome | Likely pathogenic
(Oct 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37089052
- GRCh38:
- Chr3:37047561
| MLH1 | S234G, S251G, S351G, S494G, S559G, S592G | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms | Uncertain significance
(Dec 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37053318
- GRCh38:
- Chr3:37011827
| MLH1 | V152I, V185I, V87I | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Turcot syndrome,
Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2 | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37038178
- GRCh38:
- Chr3:36996687
| MLH1 | Q62R | Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer, hereditary nonpolyposis, type 2, Turcot syndrome,
Muir-Torré syndrome | Uncertain significance
(Apr 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48026559-48026560
- GRCh38:
- Chr2:47799420-47799421
| MSH6 | V178fs, V350fs, V480fs | Turcot syndrome | Pathogenic
(Jun 5, 2020) | criteria provided, single submitter |
| | PMS2 | | Turcot syndrome | Pathogenic
(May 6, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr7:6045664
- GRCh38:
- Chr7:6006033
| PMS2 | | Turcot syndrome | Pathogenic
(May 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37053501
- GRCh38:
- Chr3:37012010
| MLH1 | | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Muir-Torré syndrome,
Colorectal cancer, hereditary nonpolyposis, type 2, Turcot syndrome | Pathogenic/Likely pathogenic
(Feb 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6017213
- GRCh38:
- Chr7:5977582
| PMS2 | | Hereditary nonpolyposis colorectal neoplasms, Turcot syndrome, not provided
| Uncertain significance
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6043693
- GRCh38:
- Chr7:6004062
| PMS2 | | Hereditary nonpolyposis colorectal neoplasms, Turcot syndrome | Conflicting interpretations of pathogenicity
(Apr 17, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:6031628
- GRCh38:
- Chr7:5991997
| PMS2 | V11F, V131F, V187F, V322F, V216F, V219F | Hereditary nonpolyposis colorectal neoplasms, Turcot syndrome | Uncertain significance
(Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37092127
- GRCh38:
- Chr3:37050636
| MLH1 | V411L, V654L, V752L, V683L, V721L, V394L, V511L, V697L, V719L | Turcot syndrome, Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2,
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome | Uncertain significance
(Dec 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6027264-6027282
- GRCh38:
- Chr7:5987633-5987651
| PMS2 | | Turcot syndrome | Uncertain significance
(Aug 25, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr3:37090475
- GRCh38:
- Chr3:37048984
| MLH1 | Y332*, Y449*, Y592*, Y657*, Y635*, Y659*, Y690*, Y349* | Hereditary nonpolyposis colorectal neoplasms, not provided, Turcot syndrome,
Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary cancer-predisposing syndrome
| Pathogenic/Likely pathogenic
(Sep 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37042467
- GRCh38:
- Chr3:37000976
| MLH1 | C77G | Hereditary nonpolyposis colorectal neoplasms, Turcot syndrome, Muir-Torré syndrome,
Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary cancer-predisposing syndrome | Uncertain significance
(Nov 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37059048
- GRCh38:
- Chr3:37017557
| MLH1 | A248G, A40G, A183G, A281G | Hereditary nonpolyposis colorectal neoplasms, Turcot syndrome, Muir-Torré syndrome,
Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary cancer-predisposing syndrome | Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37055971
- GRCh38:
- Chr3:37014480
| MLH1 | M242I, M1I, M144I, M209I | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, not provided,
Turcot syndrome, Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2
| Uncertain significance
(Sep 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37061800
- GRCh38:
- Chr3:37020309
| MLH1 | | Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 2, Turcot syndrome,
Muir-Torré syndrome, Hereditary nonpolyposis colorectal neoplasms | Pathogenic/Likely pathogenic
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47639559-47639560
- GRCh38:
- Chr2:47412420-47412421
| MSH2 | R153fs, R219fs | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Apr 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48033959
- GRCh38:
- Chr2:47806820
| MSH6 | E1348A, E1218A, E1046A | not provided, Turcot syndrome, Endometrial carcinoma,
Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
| Uncertain significance
(Aug 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37067140
- GRCh38:
- Chr3:37025649
| MLH1 | G351R, G10R, G253R, G110R, G318R | Hereditary nonpolyposis colorectal neoplasms, Turcot syndrome, Muir-Torré syndrome,
Colorectal cancer, hereditary nonpolyposis, type 2, not provided, Hereditary cancer-predisposing syndrome
| Conflicting interpretations of pathogenicity
(Aug 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37053562
- GRCh38:
- Chr3:37012071
| MLH1 | R217S, R119S, R184S | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome | Uncertain significance
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6037045
- GRCh38:
- Chr7:5997414
| PMS2 | L239F, L133F, L48F, L104F, L136F | Hereditary nonpolyposis colorectal neoplasms, Turcot syndrome, Lynch syndrome 4
| Uncertain significance
(Oct 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6043433
- GRCh38:
- Chr7:6003802
| PMS2 | | Hereditary nonpolyposis colorectal neoplasms, not provided | Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6045611
- GRCh38:
- Chr7:6005980
| PMS2 | Q25H | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Turcot syndrome,
Lynch syndrome 4 | Uncertain significance
(Jan 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6038772
- GRCh38:
- Chr7:5999141
| PMS2 | K224N, K89N, K121N, K118N | Turcot syndrome, Lynch syndrome 4, Hereditary cancer-predisposing syndrome,
Hereditary nonpolyposis colorectal neoplasms | Uncertain significance
(Feb 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47637330
- GRCh38:
- Chr2:47410191
| MSH2 | V155A, V89A | Turcot syndrome, Lynch syndrome 1, Muir-Torré syndrome,
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided
| Conflicting interpretations of pathogenicity
(Sep 25, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37089179
- GRCh38:
- Chr3:37047688
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 2,
Turcot syndrome, Muir-Torré syndrome, not provided
| Uncertain significance
(Jan 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6027232
- GRCh38:
- Chr7:5987601
| PMS2 | H201fs, H282fs, H285fs, H336fs, H388fs, H197fs, H77fs, H253fs | Turcot syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
| Pathogenic
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48027305
- GRCh38:
- Chr2:47800166
| MSH6 | K728R, K598R, K426R | Hereditary cancer-predisposing syndrome, not provided, Hereditary nonpolyposis colorectal neoplasms,
Lynch syndrome 5, Turcot syndrome, Endometrial carcinoma
| Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37035091
- GRCh38:
- Chr3:36993600
| MLH1 | R18H | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Turcot syndrome,
Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2 | Uncertain significance
(Feb 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37059050
- GRCh38:
- Chr3:37017559
| MLH1 | A282T, A249T, A41T, A184T | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Turcot syndrome,
Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2 | Uncertain significance
(Jun 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48027637
- GRCh38:
- Chr2:47800498
| MSH6 | D839H, D537H, D709H | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Endometrial carcinoma,
Lynch syndrome 5, Turcot syndrome | Uncertain significance
(Jun 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010556
- GRCh38:
- Chr2:47783417
| MSH6 | R62C | Lynch syndrome 5, Turcot syndrome, Endometrial carcinoma,
Endometrial carcinoma, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome,
not specified | Uncertain significance
(Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37035028
- GRCh38:
- Chr3:36993537
| MLH1 | | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer, hereditary nonpolyposis, type 2,
Turcot syndrome, Muir-Torré syndrome, not provided
| Uncertain significance
(Aug 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37035129
- GRCh38:
- Chr3:36993638
| MLH1 | A31T | Hereditary cancer-predisposing syndrome, not provided, Hereditary nonpolyposis colorectal neoplasms,
Colorectal cancer, hereditary nonpolyposis, type 2, Turcot syndrome, Muir-Torré syndrome
| Uncertain significance
(Sep 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48027422
- GRCh38:
- Chr2:47800283
| MSH6 | T767S, T465S, T637S | Hereditary nonpolyposis colorectal neoplasms, Endometrial carcinoma, Lynch syndrome 5,
Turcot syndrome, Hereditary cancer-predisposing syndrome, Lynch syndrome 5,
not provided | Conflicting interpretations of pathogenicity
(Mar 27, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:6031643
- GRCh38:
- Chr7:5992012
| PMS2 | Q317K, Q182K, Q126K, Q214K, Q6K, Q211K | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided,
Turcot syndrome, Lynch syndrome 4 | Uncertain significance
(Jun 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48026755
- GRCh38:
- Chr2:47799616
| MSH6 | K545E, K415E, K243E | Hereditary cancer-predisposing syndrome, Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms,
not provided, Endometrial carcinoma, Turcot syndrome,
Lynch syndrome 5 | Conflicting interpretations of pathogenicity
(Sep 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37059027
- GRCh38:
- Chr3:37017536
| MLH1 | K274R, K176R, K33R, K241R | not provided, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms,
Colorectal cancer, hereditary nonpolyposis, type 2, Turcot syndrome, Muir-Torré syndrome
| Uncertain significance
(Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6026468
- GRCh38:
- Chr7:5986837
| PMS2 | Q643R, Q456R, Q508R, Q540R, Q452R, Q332R, Q537R, Q591R | Hereditary cancer-predisposing syndrome, not specified, Turcot syndrome,
Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:48026392
- GRCh38:
- Chr2:47799253
| MSH6 | V424I, V122I, V294I | Hereditary nonpolyposis colorectal neoplasms, Turcot syndrome, Lynch syndrome 5,
Endometrial carcinoma, Hereditary cancer-predisposing syndrome | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010476
- GRCh38:
- Chr2:47783337
| MSH6 | A35V | Hereditary cancer-predisposing syndrome, Turcot syndrome, Endometrial carcinoma,
Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms, not specified,
not provided | Conflicting interpretations of pathogenicity
(Aug 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37067239
- GRCh38:
- Chr3:37025748
| MLH1 | V384I, V143I, V26I, V286I, V351I, V43I | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Turcot syndrome,
Colorectal cancer, hereditary nonpolyposis, type 2 | Uncertain significance
(Dec 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6027020
- GRCh38:
- Chr7:5987389
| PMS2 | S459*, S148*, S272*, S356*, S268*, S353*, S407*, S324* | not provided, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
| Pathogenic
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37090378
- GRCh38:
- Chr3:37048887
| MLH1 | | not specified, Hereditary nonpolyposis colorectal neoplasms, Turcot syndrome,
Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2 | Likely benign
(Aug 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47641560
- GRCh38:
- Chr2:47414421
| MSH2 | | Hereditary nonpolyposis colorectal neoplasms, not provided, Hereditary cancer-predisposing syndrome,
Breast and/or ovarian cancer, not specified, Turcot syndrome,
Lynch syndrome 1 | Conflicting interpretations of pathogenicity
(Aug 22, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:6013098
- GRCh38:
- Chr7:5973467
| PMS2 | W530fs, W706fs, W717fs, W735fs, W738fs, W852fs, W650fs, W789fs, W841fs, W654fs | Hereditary cancer-predisposing syndrome, not provided, Hereditary nonpolyposis colorectal neoplasms,
Turcot syndrome | Conflicting interpretations of pathogenicity
(Oct 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:6038782
- GRCh38:
- Chr7:5999151
| PMS2 | P221L, P118L, P115L, P86L | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome | Uncertain significance
(Oct 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6043315
- GRCh38:
- Chr7:6003684
| PMS2 | | Hereditary nonpolyposis colorectal neoplasms, Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome,
not specified, not provided, Lynch syndrome 4
| Conflicting interpretations of pathogenicity
(Sep 5, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37042464
- GRCh38:
- Chr3:37000973
| MLH1 | V76I | Hereditary nonpolyposis colorectal neoplasms, Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome,
not specified, not provided, Muir-Torré syndrome,
Colorectal cancer, hereditary nonpolyposis, type 2, Turcot syndrome | Uncertain significance
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6043346
- GRCh38:
- Chr7:6003715
| PMS2 | A110S | not provided, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome,
Lynch syndrome 4, Turcot syndrome | Uncertain significance
(Jun 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6038769
- GRCh38:
- Chr7:5999138
| PMS2 | E225D, E90D, E119D, E122D | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided,
not specified, Lynch syndrome 4, Turcot syndrome
| Uncertain significance
(Sep 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48032060
- GRCh38:
- Chr2:47804921
| MSH6 | L1150F, L848F, L1020F | not provided, Lynch syndrome 5, Hereditary cancer-predisposing syndrome,
Hereditary nonpolyposis colorectal neoplasms | Uncertain significance
(Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48033498
- GRCh38:
- Chr2:47806359
| MSH6 | | Hereditary cancer-predisposing syndrome, not provided, Hereditary nonpolyposis colorectal neoplasms,
Lynch syndrome 5, Endometrial carcinoma, Turcot syndrome
| Likely pathogenic
(Jan 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6029563
- GRCh38:
- Chr7:5989932
| PMS2 | P338A, P232A, P147A, P27A, P203A, P235A | Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms,
not provided | Uncertain significance
(Nov 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37042480
- GRCh38:
- Chr3:37000989
| MLH1 | T81S | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, not specified,
Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2, Turcot syndrome
| Uncertain significance
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6026820
- GRCh38:
- Chr7:5987189
| PMS2 | D526N, D215N, D423N, D335N, D391N, D339N, D420N, D474N | not provided, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4,
Turcot syndrome, Hereditary cancer-predisposing syndrome, not specified
| Conflicting interpretations of pathogenicity
(Jul 31, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:6035243
- GRCh38:
- Chr7:5995612
| PMS2 | | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided,
Lynch syndrome 4, Turcot syndrome, Lynch syndrome 4
| Pathogenic/Likely pathogenic
(Dec 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6013059
- GRCh38:
- Chr7:5973428
| PMS2 | A854T, A543T, A719T, A865T, A663T, A667T, A730T, A802T, A748T, A751T | Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4, Turcot syndrome,
not provided, Hereditary cancer-predisposing syndrome | Uncertain significance
(Sep 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37059014
- GRCh38:
- Chr3:37017523
| MLH1 | T270A, T237A, T29A, T172A | Hereditary nonpolyposis colorectal neoplasms, not specified, not provided,
Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 2 | Conflicting interpretations of pathogenicity
(Mar 20, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47702229
- GRCh38:
- Chr2:47475090
| MSH2 | A609S, A543S | Hereditary cancer-predisposing syndrome, MSH2-related condition, not provided,
Lynch syndrome 1, Muir-Torré syndrome, Turcot syndrome,
Hereditary nonpolyposis colorectal neoplasms | Conflicting interpretations of pathogenicity
(Nov 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:48030698
- GRCh38:
- Chr2:47803559
| MSH6 | F1104L, F974L, F802L | Hereditary cancer-predisposing syndrome, not specified, Turcot syndrome,
Lynch syndrome 5, Endometrial carcinoma, Hereditary nonpolyposis colorectal neoplasms,
not provided | Conflicting interpretations of pathogenicity
(Feb 6, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:48010559
- GRCh38:
- Chr2:47783420
| MSH6 | S63P | Hereditary cancer-predisposing syndrome, not provided, Lynch syndrome 5,
Endometrial carcinoma, Turcot syndrome, Lynch syndrome 5,
MSH6-related condition, Hereditary nonpolyposis colorectal neoplasms, not specified
| Conflicting interpretations of pathogenicity
(Mar 27, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:6017284
- GRCh38:
- Chr7:5977653
| PMS2 | P794S, P483S, P691S, P688S, P603S, P607S, P670S, P742S, P805S, P659S | not provided, Turcot syndrome, Lynch syndrome 4,
Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms, Breast and/or ovarian cancer,
Hereditary cancer-predisposing syndrome, not specified | Uncertain significance
(Jul 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37053563
- GRCh38:
- Chr3:37012072
| MLH1 | R217H, R184H, R119H | Hereditary nonpolyposis colorectal neoplasms, not provided, Turcot syndrome,
Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary cancer-predisposing syndrome
| Conflicting interpretations of pathogenicity
(Oct 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37048539
- GRCh38:
- Chr3:37007048
| MLH1 | | Lynch syndrome | Likely benign
(Oct 18, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr3:37089053
- GRCh38:
- Chr3:37047562
| MLH1 | S592N, S351N, S234N, S494N, S559N, S251N | Hereditary cancer-predisposing syndrome, not provided, Muir-Torré syndrome,
Colorectal cancer, hereditary nonpolyposis, type 2, Turcot syndrome, not specified,
Hereditary nonpolyposis colorectal neoplasms | Uncertain significance
(Oct 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37067207
- GRCh38:
- Chr3:37025716
| MLH1 | G373E, G132E, G32E, G15E, G275E, G340E | Hereditary nonpolyposis colorectal neoplasms, Turcot syndrome, Muir-Torré syndrome,
Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary cancer-predisposing syndrome, not provided
| Uncertain significance
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6026844
- GRCh38:
- Chr7:5987213
| PMS2 | E518K, E207K, E415K, E331K, E383K, E412K, E327K, E466K | not provided, Lynch syndrome 4, Turcot syndrome,
Hereditary cancer-predisposing syndrome, Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms
| Conflicting interpretations of pathogenicity
(Sep 14, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47702206
- GRCh38:
- Chr2:47475067
| MSH2 | Q601R, Q535R | not specified, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1,
Turcot syndrome, Muir-Torré syndrome, Hereditary cancer-predisposing syndrome
| Conflicting interpretations of pathogenicity
(Nov 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:48010508
- GRCh38:
- Chr2:47783369
| MSH6 | G46R | Hereditary cancer-predisposing syndrome, Lynch syndrome 5, Endometrial carcinoma,
Turcot syndrome, Lynch syndrome 5, not provided,
Hereditary nonpolyposis colorectal neoplasms | Uncertain significance
(Sep 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47705579
- GRCh38:
- Chr2:47478440
| MSH2 | Q793H, Q727H | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided,
Turcot syndrome | Conflicting interpretations of pathogenicity
(Jul 20, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47657058
- GRCh38:
- Chr2:47429919
| MSH2 | I418M, I352M | Hereditary nonpolyposis colorectal neoplasms, not specified, MSH2-related condition,
Hereditary cancer-predisposing syndrome, not provided, Turcot syndrome,
Muir-Torré syndrome, Lynch syndrome 1, Lynch syndrome 1
| Conflicting interpretations of pathogenicity
(Jun 28, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:48026027
- GRCh38:
- Chr2:47798888
| MSH6 | R302K, R172K, R127K, R203K, R246K, R276K, R304K, R334K | Hereditary cancer-predisposing syndrome, not provided, Hereditary nonpolyposis colorectal neoplasms
| Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:48010508
- GRCh38:
- Chr2:47783369
| MSH6 | G46R | Lynch syndrome 5, Endometrial carcinoma, Turcot syndrome,
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity
(May 26, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37081690
- GRCh38:
- Chr3:37040199
| MLH1 | M524I, M166I, M283I, M426I, M491I, M183I | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided,
Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2, Turcot syndrome,
Colorectal cancer, hereditary nonpolyposis, type 2 | Conflicting interpretations of pathogenicity
(Jul 13, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47637269
- GRCh38:
- Chr2:47410130
| MSH2 | L135V, L69V | not specified, Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms,
not provided, Muir-Torré syndrome, Turcot syndrome,
Lynch syndrome 1, Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:48028081
- GRCh38:
- Chr2:47800942
| MSH6 | T987A, T685A, T857A | Hereditary cancer-predisposing syndrome, not specified, Lynch syndrome 5,
Hereditary nonpolyposis colorectal neoplasms, not provided, Turcot syndrome,
Endometrial carcinoma, Lynch syndrome 5 | Conflicting interpretations of pathogenicity
(Mar 28, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47637242
- GRCh38:
- Chr2:47410103
| MSH2 | G126S, G60S | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Muir-Torré syndrome,
Turcot syndrome, Lynch syndrome 1 | Uncertain significance
(Sep 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37067206
- GRCh38:
- Chr3:37025715
| MLH1 | G373R, G132R, G32R, G340R, G15R, G275R | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided,
not specified, Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2,
Turcot syndrome, Lynch syndrome, Colorectal cancer, hereditary nonpolyposis, type 2
| Conflicting interpretations of pathogenicity
(May 5, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:6026837
- GRCh38:
- Chr7:5987206
| PMS2 | A520V, A414V, A209V, A329V, A333V, A385V, A417V, A468V | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Breast and/or ovarian cancer,
not specified, not provided, Lynch syndrome 4,
Turcot syndrome, Lynch syndrome 4, Lynch syndrome 5
| Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37042528
- GRCh38:
- Chr3:37001037
| MLH1 | Y97C, M1V | not specified, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms,
not provided, Colorectal cancer, hereditary nonpolyposis, type 2, Turcot syndrome
| Conflicting interpretations of pathogenicity
(May 12, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:6043425
- GRCh38:
- Chr7:6003794
| PMS2 | | not provided, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer,
Hereditary nonpolyposis colorectal neoplasms, Breast and/or ovarian cancer, Turcot syndrome,
Lynch syndrome 4, Lynch syndrome, Lynch syndrome 4
| Pathogenic/Likely pathogenic
(Apr 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48027350-48027351
- GRCh38:
- Chr2:47800211-47800212
| MSH6 | E442fs, E614fs, E744fs | Hereditary nonpolyposis colon cancer, MSH6-related condition, Hereditary nonpolyposis colorectal neoplasms,
Hereditary cancer-predisposing syndrome, not provided, Lynch syndrome 5
| Pathogenic/Likely pathogenic
(Jul 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010382
- GRCh38:
- Chr2:47783243
| MSH6 | Q4* | Hereditary nonpolyposis colorectal neoplasms, MSH6-related condition, Lynch syndrome 5,
Endometrial carcinoma, Mismatch repair cancer syndrome 3, Hereditary cancer-predisposing syndrome,
Breast and/or ovarian cancer, not provided, Lynch syndrome,
Lynch syndrome 5 | Pathogenic/Likely pathogenic
(Mar 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47703502
- GRCh38:
- Chr2:47476363
| MSH2 | | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not specified,
not provided, Turcot syndrome, Lynch syndrome 1
| Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:6042115
- GRCh38:
- Chr7:6002484
| PMS2 | R169H, R34H, R63H, R66H | Hereditary nonpolyposis colorectal neoplasms, PMS2-related condition, Hereditary cancer-predisposing syndrome,
Turcot syndrome, Lynch syndrome 4, not provided,
Lynch syndrome | Uncertain significance
(Jun 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6048649
- GRCh38:
- Chr7:6009018
| PMS2 | M1K | PMS2-related condition, Hereditary nonpolyposis colon cancer, Hereditary cancer-predisposing syndrome,
not provided, Lynch syndrome 4, Turcot syndrome,
Lynch syndrome 4 | Conflicting interpretations of pathogenicity
(Apr 4, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:48033708
- GRCh38:
- Chr2:47806569
| MSH6 | N1307H, N1177H, N1005H | Hereditary cancer-predisposing syndrome, not provided, Turcot syndrome,
Lynch syndrome 5, Endometrial carcinoma, Hereditary nonpolyposis colorectal neoplasms
| Uncertain significance
(Jun 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47637249
- GRCh38:
- Chr2:47410110
| MSH2 | L128R, L62R | not provided, Hereditary nonpolyposis colorectal neoplasms, not specified,
Hereditary cancer-predisposing syndrome, Lynch syndrome 1, Turcot syndrome,
Muir-Torré syndrome, Lynch syndrome 1 | Conflicting interpretations of pathogenicity
(Aug 4, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37067332
- GRCh38:
- Chr3:37025841
| MLH1 | D415N, D57N, D74N, D174N, D317N, D382N | not provided, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome,
Colorectal cancer, hereditary nonpolyposis, type 2, Turcot syndrome, Muir-Torré syndrome,
Breast and/or ovarian cancer | Uncertain significance
(Apr 19, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37067125
- GRCh38:
- Chr3:37025634
| MLH1 | | Hereditary cancer-predisposing syndrome, Turcot syndrome, Muir-Torré syndrome,
Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary nonpolyposis colorectal neoplasms, not provided
| Conflicting interpretations of pathogenicity
(Jun 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47702331
- GRCh38:
- Chr2:47475192
| MSH2 | E643K, E577K | Hereditary nonpolyposis colorectal neoplasms, MSH2-related condition, Hereditary cancer-predisposing syndrome,
not specified, not provided, Lynch syndrome 1,
Turcot syndrome, Muir-Torré syndrome | Conflicting interpretations of pathogenicity
(Apr 3, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37070354
- GRCh38:
- Chr3:37028863
| MLH1 | R497W, R139W, R156W, R256W, R399W, R464W | Hereditary nonpolyposis colorectal neoplasms, not provided, Hereditary cancer-predisposing syndrome
| Conflicting interpretations of pathogenicity
(Apr 14, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:6036994
- GRCh38:
- Chr7:5997363
| PMS2 | G256S, G121S, G150S, G153S, G65S | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided,
Turcot syndrome, Lynch syndrome 4, Lynch syndrome 4
| Uncertain significance
(Sep 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6045598
- GRCh38:
- Chr7:6005967
| PMS2 | Q30* | Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome,
Lynch syndrome, not provided, Turcot syndrome,
Lynch syndrome 1, Lynch syndrome 4 | Pathogenic
(Mar 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6035191
- GRCh38:
- Chr7:5995560
| PMS2 | N293D, N102D, N158D, N187D, N190D | PMS2-related condition, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome,
not specified, not provided, Lynch syndrome 4,
Turcot syndrome, Lynch syndrome, Lynch syndrome 4
| Uncertain significance
(Oct 13, 2023) | criteria provided, multiple submitters, no conflicts |