| - GRCh37:
- Chr3:37090083
- GRCh38:
- Chr3:37048592
| MLH1 | L300fs, L317fs, L417fs, L560fs, L603fs, L625fs, L658fs | Muir-Torré syndrome | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47643435
- GRCh38:
- Chr2:47416296
| MSH2 | G249C, G315C | Mismatch repair cancer syndrome 2, Lynch syndrome 1, Muir-Torré syndrome,
Hereditary nonpolyposis colorectal neoplasms | Uncertain significance
(Mar 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37059022
- GRCh38:
- Chr3:37017531
| MLH1 | R240fs, R32fs, R175fs, R273fs | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Turcot syndrome,
Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2 | Pathogenic/Likely pathogenic
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47702311
- GRCh38:
- Chr2:47475172
| MSH2 | A570fs, A636fs | Muir-Torré syndrome | Pathogenic
(Feb 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47707995
- GRCh38:
- Chr2:47480856
| MSH2 | C807*, C873* | Hereditary cancer-predisposing syndrome, Muir-Torré syndrome | Pathogenic/Likely pathogenic
(Sep 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37038150
- GRCh38:
- Chr3:36996659
| MLH1 | E53* | Colorectal cancer, hereditary nonpolyposis, type 2, Muir-Torré syndrome | Pathogenic
(Oct 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37053318
- GRCh38:
- Chr3:37011827
| MLH1 | V152I, V185I, V87I | Hereditary cancer-predisposing syndrome, Turcot syndrome, Muir-Torré syndrome,
Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary nonpolyposis colorectal neoplasms | 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:
- Chr2:47637339
- GRCh38:
- Chr2:47410200
| MSH2 | Q158R, Q92R | Hereditary nonpolyposis colorectal neoplasms, Muir-Torré syndrome | Uncertain significance
(Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37053501
- GRCh38:
- Chr3:37012010
| MLH1 | | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Turcot syndrome,
Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2 | Pathogenic/Likely pathogenic
(Feb 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47698130
- GRCh38:
- Chr2:47470991
| MSH2 | Y497C, Y563C | Hereditary nonpolyposis colorectal neoplasms, Muir-Torré syndrome, Lynch syndrome 1,
Mismatch repair cancer syndrome 2, Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity
(Aug 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37092127
- GRCh38:
- Chr3:37050636
| MLH1 | V411L, V654L, V752L, V683L, V721L, V394L, V511L, V697L, V719L | Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2, Turcot syndrome,
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome | Uncertain significance
(Dec 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47703565
- GRCh38:
- Chr2:47476426
| MSH2 | A623T, A689T | Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 2, Lynch syndrome 1,
Muir-Torré syndrome, Hereditary nonpolyposis colorectal neoplasms | Conflicting interpretations of pathogenicity
(Mar 20, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37090475
- GRCh38:
- Chr3:37048984
| MLH1 | Y332*, Y449*, Y592*, Y657*, Y635*, Y659*, Y690*, Y349* | Hereditary nonpolyposis colorectal neoplasms, not provided, Hereditary cancer-predisposing syndrome,
Turcot syndrome, Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2
| Pathogenic/Likely pathogenic
(Sep 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37042467
- GRCh38:
- Chr3:37000976
| MLH1 | C77G | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Turcot syndrome,
Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2 | 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, Hereditary cancer-predisposing syndrome, Turcot syndrome,
Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2 | Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37089011-37116538
| LRRFIP2, MLH1 | | Muir-Torré syndrome | Pathogenic
(Nov 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37055971
- GRCh38:
- Chr3:37014480
| MLH1 | M242I, M1I, M144I, M209I | Hereditary cancer-predisposing syndrome, not provided, Hereditary nonpolyposis colorectal neoplasms,
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 nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Turcot syndrome,
Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2 | Pathogenic/Likely pathogenic
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47698196
- GRCh38:
- Chr2:47471057
| MSH2 | S585F, S519F | Hereditary cancer-predisposing syndrome, Muir-Torré syndrome, Hereditary nonpolyposis colorectal neoplasms
| Uncertain significance
(Jun 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37067140
- GRCh38:
- Chr3:37025649
| MLH1 | G351R, G10R, G253R, G110R, G318R | Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer, hereditary nonpolyposis, type 2, Turcot syndrome,
Muir-Torré syndrome, Hereditary cancer-predisposing syndrome, not provided
| Conflicting interpretations of pathogenicity
(Aug 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47693958
- GRCh38:
- Chr2:47466819
| MSH2 | | Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1, Mismatch repair cancer syndrome 2,
Muir-Torré syndrome, Hereditary cancer-predisposing syndrome, not specified
| Likely benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47690237
- GRCh38:
- Chr2:47463098
| MSH2 | M485T, M419T | Hereditary cancer-predisposing syndrome, Lynch syndrome 1, Mismatch repair cancer syndrome 2,
Muir-Torré syndrome, Hereditary nonpolyposis colorectal neoplasms | Conflicting interpretations of pathogenicity
(Mar 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47637330
- GRCh38:
- Chr2:47410191
| MSH2 | V155A, V89A | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1,
Turcot syndrome, Muir-Torré syndrome, not provided
| Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47693947
- GRCh38:
- Chr2:47466808
| MSH2 | S554N, S488N | Lynch syndrome 1, Mismatch repair cancer syndrome 2, Muir-Torré syndrome,
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1
| Pathogenic/Likely pathogenic
(Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37089179
- GRCh38:
- Chr3:37047688
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided,
Colorectal cancer, hereditary nonpolyposis, type 2, Turcot syndrome, Muir-Torré syndrome
| Uncertain significance
(Jan 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47643484
- GRCh38:
- Chr2:47416345
| MSH2 | N331S, N265S | Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome, Hereditary cancer-predisposing syndrome,
not specified, Lynch syndrome 1, Muir-Torré syndrome,
Mismatch repair cancer syndrome 2 | Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37035091
- GRCh38:
- Chr3:36993600
| MLH1 | R18H | Hereditary cancer-predisposing syndrome, Turcot syndrome, Muir-Torré syndrome,
Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary nonpolyposis colorectal neoplasms | Uncertain significance
(Feb 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47702296
- GRCh38:
- Chr2:47475157
| MSH2 | R631K, R565K | Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 2, Lynch syndrome 1,
Muir-Torré syndrome, Hereditary nonpolyposis colorectal neoplasms, not provided
| Conflicting interpretations of pathogenicity
(May 25, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47672764
- GRCh38:
- Chr2:47445625
| MSH2 | E452K, E386K | Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 2, Lynch syndrome 1,
Muir-Torré syndrome, Hereditary nonpolyposis colorectal neoplasms | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37059050
- GRCh38:
- Chr3:37017559
| MLH1 | A282T, A249T, A41T, A184T | Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 2, Turcot syndrome,
Muir-Torré syndrome, Hereditary nonpolyposis colorectal neoplasms | Uncertain significance
(Feb 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37035028
- GRCh38:
- Chr3:36993537
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided,
Turcot syndrome, Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2
| Uncertain significance
(Aug 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37035129
- GRCh38:
- Chr3:36993638
| MLH1 | A31T | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided,
Turcot syndrome, Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2
| Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37059027
- GRCh38:
- Chr3:37017536
| MLH1 | K274R, K176R, K33R, K241R | Hereditary nonpolyposis colorectal neoplasms, not provided, Hereditary cancer-predisposing syndrome,
Turcot syndrome, Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2
| Uncertain significance
(Sep 12, 2022) | 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:
- Chr3:37042464
- GRCh38:
- Chr3:37000973
| MLH1 | V76I | Hereditary nonpolyposis colorectal neoplasms, Turcot syndrome, Muir-Torré syndrome,
Colorectal cancer, hereditary nonpolyposis, type 2, not specified, not provided,
Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome | Uncertain significance
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47635600
- GRCh38:
- Chr2:47408461
| MSH2 | D91V, D25V | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Muir-Torré syndrome
| Uncertain significance
(Jul 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37042480
- GRCh38:
- Chr3:37000989
| MLH1 | T81S | Hereditary nonpolyposis colorectal neoplasms, Turcot syndrome, Muir-Torré syndrome,
Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary cancer-predisposing syndrome, not specified
| Uncertain significance
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47690263
- GRCh38:
- Chr2:47463124
| MSH2 | S494P, S428P | not provided, Mismatch repair cancer syndrome 2, Lynch syndrome 1,
Muir-Torré syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
| Conflicting interpretations of pathogenicity
(Feb 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47702229
- GRCh38:
- Chr2:47475090
| MSH2 | A609S, A543S | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided,
Lynch syndrome 1, Turcot syndrome, Muir-Torré syndrome
| Conflicting interpretations of pathogenicity
(Aug 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47705460
- GRCh38:
- Chr2:47478321
| MSH2 | T754S, T688S | Mismatch repair cancer syndrome 2, Lynch syndrome 1, Muir-Torré syndrome,
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided,
not specified | Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37053563
- GRCh38:
- Chr3:37012072
| MLH1 | R217H, R184H, R119H | Hereditary nonpolyposis colorectal neoplasms, Turcot syndrome, Muir-Torré syndrome,
Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary cancer-predisposing syndrome, not provided
| Conflicting interpretations of pathogenicity
(Jan 30, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37048539
- GRCh38:
- Chr3:37007048
| MLH1 | | Lynch syndrome | Likely benign
(Oct 18, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:47637374
- GRCh38:
- Chr2:47410235
| MSH2 | Q170E, Q104E | not specified, Lynch syndrome 1, Lynch syndrome 1,
Muir-Torré syndrome, Mismatch repair cancer syndrome 2, Hereditary nonpolyposis colorectal neoplasms,
Hereditary cancer-predisposing syndrome, not provided | Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37089053
- GRCh38:
- Chr3:37047562
| MLH1 | S592N, S351N, S234N, S494N, S559N, S251N | Hereditary nonpolyposis colorectal neoplasms, Turcot syndrome, Muir-Torré syndrome,
Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary cancer-predisposing syndrome, not provided
| Uncertain significance
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37067207
- GRCh38:
- Chr3:37025716
| MLH1 | G373E, G132E, G32E, G15E, G275E, G340E | not provided, Hereditary nonpolyposis colorectal neoplasms, Turcot syndrome,
Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary cancer-predisposing syndrome
| Uncertain significance
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47702206
- GRCh38:
- Chr2:47475067
| MSH2 | Q601R, Q535R | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 1,
Turcot syndrome, Muir-Torré syndrome, not specified
| Conflicting interpretations of pathogenicity
(Nov 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47705460
- GRCh38:
- Chr2:47478321
| MSH2 | T754A, T688A | Mismatch repair cancer syndrome 2, Lynch syndrome 1, Muir-Torré syndrome,
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, not provided,
Lynch syndrome 1 | Conflicting interpretations of pathogenicity
(Mar 30, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47657058
- GRCh38:
- Chr2:47429919
| MSH2 | I418M, I352M | not specified, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome,
Lynch syndrome 1, Turcot syndrome, Muir-Torré syndrome,
not provided, Lynch syndrome 1 | Conflicting interpretations of pathogenicity
(Jun 28, 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,
Colorectal cancer, hereditary nonpolyposis, type 2, Turcot syndrome, Muir-Torré syndrome,
Colorectal cancer, hereditary nonpolyposis, type 2 | Conflicting interpretations of pathogenicity
(Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47637269
- GRCh38:
- Chr2:47410130
| MSH2 | L135V, L69V | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not specified,
not provided, Turcot syndrome, Lynch syndrome 1,
Muir-Torré syndrome, Lynch syndrome 1 | Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47637242
- GRCh38:
- Chr2:47410103
| MSH2 | G126S, G60S | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Turcot syndrome,
Muir-Torré 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 | Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome,
not specified, not provided, Colorectal cancer, hereditary nonpolyposis, type 2,
Turcot syndrome, Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2
| Conflicting interpretations of pathogenicity
(May 5, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47630403
- GRCh38:
- Chr2:47403264
| MSH2 | G25C | Muir-Torré syndrome, Mismatch repair cancer syndrome 2, Lynch syndrome 1,
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided
| Uncertain significance
(Jun 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47630150
- GRCh38:
- Chr2:47403011
| MSH2 | | Lynch syndrome, Muir-Torré syndrome, Mismatch repair cancer syndrome 2,
Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome,
not provided, Lynch syndrome 1 | Uncertain significance
(Apr 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47637432
- GRCh38:
- Chr2:47410293
| MSH2 | A189G, A123G | Hereditary nonpolyposis colorectal neoplasms, Muir-Torré syndrome, Mismatch repair cancer syndrome 2,
Lynch syndrome 1, Hereditary cancer-predisposing syndrome, not specified,
not provided, Lynch syndrome 1 | Conflicting interpretations of pathogenicity
(Jun 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47637249
- GRCh38:
- Chr2:47410110
| MSH2 | L128R, L62R | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided,
Turcot syndrome, Muir-Torré syndrome, Lynch syndrome 1,
Lynch syndrome 1 | Conflicting interpretations of pathogenicity
(May 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37067332
- GRCh38:
- Chr3:37025841
| MLH1 | D415N, D57N, D74N, D174N, D317N, D382N | Breast and/or ovarian cancer, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome,
not provided, Colorectal cancer, hereditary nonpolyposis, type 2, Turcot syndrome,
Muir-Torré syndrome | Uncertain significance
(Apr 19, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37067125
- GRCh38:
- Chr3:37025634
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided,
Colorectal cancer, hereditary nonpolyposis, type 2, Turcot syndrome, Muir-Torré syndrome
| Conflicting interpretations of pathogenicity
(Jun 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47702331
- GRCh38:
- Chr2:47475192
| MSH2 | E643K, E577K | Hereditary nonpolyposis colorectal neoplasms, 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:
- Chr3:37067243
- GRCh38:
- Chr3:37025752
| MLH1 | R385H, R144H, R27H, R287H, R352H, R44H | not specified, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome,
not provided, Turcot syndrome, Muir-Torré syndrome,
Colorectal cancer, hereditary nonpolyposis, type 2, Lynch syndrome, Colorectal cancer, hereditary nonpolyposis, type 2
| Conflicting interpretations of pathogenicity
(Mar 17, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47630496
- GRCh38:
- Chr2:47403357
| MSH2 | E56K | Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1, Mismatch repair cancer syndrome 2,
Muir-Torré syndrome, Hereditary cancer-predisposing syndrome, not specified,
not provided | Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47635548
- GRCh38:
- Chr2:47408409
| MSH2 | N74H, N8H | Mismatch repair cancer syndrome 2, Muir-Torré syndrome, Lynch syndrome 1,
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not specified,
not provided, Lynch syndrome 1 | Conflicting interpretations of pathogenicity
(Jun 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47637476
- GRCh38:
- Chr2:47410337
| MSH2 | G204R, G138R | Muir-Torré syndrome, Mismatch repair cancer syndrome 2, Lynch syndrome 1,
Hereditary cancer-predisposing syndrome, not provided, Hereditary nonpolyposis colorectal neoplasms,
Lynch syndrome 1 | Conflicting interpretations of pathogenicity
(Mar 21, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47657042
- GRCh38:
- Chr2:47429903
| MSH2 | Q413P, Q347P | Hereditary cancer-predisposing syndrome, not provided, Hereditary nonpolyposis colorectal neoplasms,
Turcot syndrome, Muir-Torré syndrome, Lynch syndrome 1
| Conflicting interpretations of pathogenicity
(Jul 20, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37083821
- GRCh38:
- Chr3:37042330
| MLH1 | S577L, S236L, S544L, S219L, S336L, S479L | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided,
not specified, Colorectal cancer, hereditary nonpolyposis, type 2, Turcot syndrome,
Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2 | Conflicting interpretations of pathogenicity
(Mar 14, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37070428
- GRCh38:
- Chr3:37028937
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms, Breast and/or ovarian cancer, not specified,
Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 2, Turcot syndrome,
Muir-Torré syndrome, Lynch syndrome, not provided,
Colorectal cancer, hereditary nonpolyposis, type 2 | Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37067433
- GRCh38:
- Chr3:37025942
| MLH1 | E448D, E415D, E107D, E207D, E350D, E90D | Colorectal cancer, hereditary nonpolyposis, type 2, not provided, Hereditary nonpolyposis colorectal neoplasms,
Hereditary cancer-predisposing syndrome, Turcot syndrome, Muir-Torré syndrome,
Colorectal cancer, hereditary nonpolyposis, type 2 | Conflicting interpretations of pathogenicity
(Mar 14, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47643483
- GRCh38:
- Chr2:47416344
| MSH2 | N331D, N265D | Lynch syndrome 1 | Uncertain significance
(Jun 13, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630427
- GRCh38:
- Chr2:47403288
| MSH2 | T33P | Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1, Mismatch repair cancer syndrome 2,
Muir-Torré syndrome, Hereditary cancer-predisposing syndrome, not provided,
not specified, Lynch syndrome 1 | Conflicting interpretations of pathogenicity
(Mar 21, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47641483
- GRCh38:
- Chr2:47414344
| MSH2 | E290*, E224* | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47637371
- GRCh38:
- Chr2:47410232
| MSH2 | I169V, I103V | Lynch syndrome | Likely benign
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47637301
- GRCh38:
- Chr2:47410162
| MSH2 | I145M, I79M | Breast and/or ovarian cancer, Hereditary nonpolyposis colorectal neoplasms, not specified,
Hereditary cancer-predisposing syndrome, not provided, Muir-Torré syndrome,
Turcot syndrome, Lynch syndrome 1, Lynch syndrome,
Lynch syndrome 1, Breast carcinoma ...see more | Conflicting interpretations of pathogenicity
(Jun 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47637254-47637255
- GRCh38:
- Chr2:47410115-47410116
| MSH2 | Q64fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47635601-47635603
- GRCh38:
- Chr2:47408462-47408464
| MSH2 | L94del, L28del | Lynch syndrome | Benign
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47707892
- GRCh38:
- Chr2:47480753
| MSH2 | H839R, H773R | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Ovarian cancer,
not provided, Lynch syndrome 1, Turcot syndrome,
Muir-Torré syndrome, Lynch syndrome, Lynch syndrome 1
| Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47630353
- GRCh38:
- Chr2:47403214
| MSH2 | T8M | Lynch syndrome | Benign
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47703631
- GRCh38:
- Chr2:47476492
| MSH2 | R711*, R645* | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47703509
- GRCh38:
- Chr2:47476370
| MSH2 | P670L, P604L | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not specified,
not provided, Lynch syndrome 1, Turcot syndrome,
Muir-Torré syndrome | Conflicting interpretations of pathogenicity
(Oct 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47630331
- GRCh38:
- Chr2:47403192
| MSH2 | M1L | Lynch syndrome | Uncertain significance
(Jun 21, 2019) | reviewed by expert panel |
| - GRCh37:
- Chr2:47702290
- GRCh38:
- Chr2:47475151
| MSH2 | Q629R, Q563R | Lynch syndrome | Benign
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47702265
- GRCh38:
- Chr2:47475126
| MSH2 | R621*, R555* | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47698132
- GRCh38:
- Chr2:47470993
| MSH2 | T564A, T498A | Lynch syndrome | Benign
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47698122
- GRCh38:
- Chr2:47470983
| MSH2 | | Lynch syndrome | Likely benign
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47693948
- GRCh38:
- Chr2:47466809
| MSH2 | | Lynch syndrome | Likely pathogenic
(Jun 21, 2019) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630468
- GRCh38:
- Chr2:47403329
| MSH2 | H46Q | Lynch syndrome | Likely benign
(Dec 19, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr2:47630458
- GRCh38:
- Chr2:47403319
| MSH2 | Y43C | Hereditary nonpolyposis colorectal neoplasms, Sarcoma, Hereditary cancer-predisposing syndrome,
not provided, not specified, Lynch syndrome 1,
Turcot syndrome, Muir-Torré syndrome, Lynch syndrome,
Lynch syndrome 1 | Conflicting interpretations of pathogenicity
(Mar 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47657081
- GRCh38:
- Chr2:47429942
| MSH2 | | Lynch syndrome | Likely pathogenic
(Jun 21, 2019) | reviewed by expert panel |
| - GRCh37:
- Chr2:47657059
- GRCh38:
- Chr2:47429920
| MSH2 | Q419K, Q353K | Lynch syndrome | Likely benign
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47657021
- GRCh38:
- Chr2:47429882
| MSH2 | R406Q, R340Q | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Breast and/or ovarian cancer,
not provided, not specified, Lynch syndrome 1,
Turcot syndrome, Muir-Torré syndrome, Lynch syndrome 1
| Conflicting interpretations of pathogenicity
(Mar 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:47656951
- GRCh38:
- Chr2:47429812
| MSH2 | R383*, R317* | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47643569
- GRCh38:
- Chr2:47416430
| MSH2 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:47643537
- GRCh38:
- Chr2:47416398
| MSH2 | P349A, P283A | Hereditary nonpolyposis colon cancer, not specified, Lynch syndrome 1,
Turcot syndrome, Muir-Torré syndrome, Hereditary cancer-predisposing syndrome,
not provided, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome,
Lynch syndrome 1 | Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37061871
- GRCh38:
- Chr3:37020380
| MLH1 | E319K, E221K, E286K, E78K | not provided, not specified, Hereditary nonpolyposis colorectal neoplasms,
Hereditary cancer-predisposing syndrome, Muir-Torré syndrome, Turcot syndrome,
Colorectal cancer, hereditary nonpolyposis, type 2, Lynch syndrome, Colorectal cancer, hereditary nonpolyposis, type 2
| Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37035129-37035130
- GRCh38:
- Chr3:36993638-36993639
| MLH1 | A31C | Hereditary nonpolyposis colorectal neoplasms, Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome,
not provided, not specified, Colorectal cancer, hereditary nonpolyposis, type 2,
Turcot syndrome, Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2
| Conflicting interpretations of pathogenicity
(Mar 14, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37058996
- GRCh38:
- Chr3:37017505
| MLH1 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035103
- GRCh38:
- Chr3:36993612
| MLH1 | G22A | Lynch syndrome | Benign
(Oct 18, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr3:37053501
- GRCh38:
- Chr3:37012010
| MLH1 | | Lynch syndrome | Likely pathogenic
(Jun 21, 2019) | reviewed by expert panel |
| - GRCh37:
- Chr3:37053358
- GRCh38:
- Chr3:37011867
| MLH1 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37045932
- GRCh38:
- Chr3:37004441
| MLH1 | T116K, T18K, T83K | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not specified,
not provided, Colorectal cancer, hereditary nonpolyposis, type 2, Turcot syndrome,
Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2 | Conflicting interpretations of pathogenicity
(Mar 15, 2023) | criteria provided, conflicting interpretations |