| - GRCh37:
- Chr3:37034655-37038803
- GRCh38:
- Chr3:36993164-36997312
| MLH1 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37034840-37070424
- GRCh38:
- Chr3:36993349-37028933
| MLH1 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37034841-37070423
- GRCh38:
- Chr3:36993350-37028932
| MLH1 | | Lynch syndrome | Pathogenic
(Nov 28, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37034841-37059090
- GRCh38:
- Chr3:36993350-37017599
| MLH1 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37034841-37050396
- GRCh38:
- Chr3:36993350-37008905
| MLH1 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37034841-37042544
- GRCh38:
- Chr3:36993350-37001053
| MLH1 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37034841-37038200
- GRCh38:
- Chr3:36993350-36996709
| MLH1 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37034841-37035154
- GRCh38:
- Chr3:36993350-36993663
| MLH1 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37034841-37092337
- GRCh38:
- Chr3:36993350-37050846
| MLH1 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035001-37041000
- GRCh38:
- Chr3:36993510-36999509
| MLH1 | | Colon cancer | Pathogenic
(Apr 9, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035012
- GRCh38:
- Chr3:36993521
| MLH1 | | Hereditary cancer-predisposing syndrome, not provided, Colorectal cancer, hereditary nonpolyposis, type 2,
Hereditary nonpolyposis colorectal neoplasms | Pathogenic/Likely pathogenic
(Oct 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37035021-37035063
- GRCh38:
- Chr3:36993530-36993572
| MLH1 | M1fs | Hereditary cancer-predisposing syndrome | Likely pathogenic
(May 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035032-37035039
- GRCh38:
- Chr3:36993541-36993548
| MLH1 | M1fs | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Jul 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37035037-37035155
- GRCh38:
- Chr3:36993546-36993664
| MLH1 | | not provided | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr3:37035039
- GRCh38:
- Chr3:36993548
| MLH1 | M1L | Hereditary cancer-predisposing syndrome | Pathogenic
(Jun 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035039
- GRCh38:
- Chr3:36993548
| MLH1 | M1L | Hereditary cancer-predisposing syndrome | Likely pathogenic
(Aug 31, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035039
- GRCh38:
- Chr3:36993548
| MLH1 | M1V | Lynch syndrome 1 | Pathogenic
(Jun 30, 2017) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035040
- GRCh38:
- Chr3:36993549
| MLH1 | M1R | Lynch syndrome 1 | Pathogenic
(Dec 14, 2016) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035040
- GRCh38:
- Chr3:36993549
| MLH1 | M1T | Lynch syndrome 1 | Pathogenic
(Dec 14, 2016) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035040
- GRCh38:
- Chr3:36993549
| MLH1 | M1K | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035041
- GRCh38:
- Chr3:36993550
| MLH1 | M1I | Lynch syndrome | Likely pathogenic
(May 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035041
- GRCh38:
- Chr3:36993550
| MLH1 | M1I | Lynch syndrome 1 | Pathogenic
(Jun 30, 2017) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035043
- GRCh38:
- Chr3:36993552
| MLH1 | S2* | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035044-37035056
- GRCh38:
- Chr3:36993553-36993565
| MLH1 | F3fs | not provided, Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Apr 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37035047
- GRCh38:
- Chr3:36993556
| MLH1 | F3fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035048-37035049
- GRCh38:
- Chr3:36993557-36993558
| MLH1 | V4fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Jun 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035050-37035063
- GRCh38:
- Chr3:36993559-36993572
| MLH1 | G6fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035053
- GRCh38:
- Chr3:36993562
| MLH1 | V7fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Apr 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035053-37035054
- GRCh38:
- Chr3:36993562-36993563
| MLH1 | V7fs | Lynch-like syndrome | Pathogenic
(Jul 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr3:37035054
- GRCh38:
- Chr3:36993563
| MLH1 | V7fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035054-37035070
- GRCh38:
- Chr3:36993563-36993579
| MLH1 | V7fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035057-37035073
- GRCh38:
- Chr3:36993566-36993582
| MLH1 | V7fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035058-37035059
- GRCh38:
- Chr3:36993567-36993568
| MLH1 | D12fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Nov 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035059-37035060
- GRCh38:
- Chr3:36993568-36993569
| MLH1 | I8fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035060
- GRCh38:
- Chr3:36993569
| MLH1 | I8fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Apr 14, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035063-37035064
- GRCh38:
- Chr3:36993572-36993573
| MLH1 | R9* | Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome, Hereditary cancer-predisposing syndrome
| Pathogenic
(Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37035065
- GRCh38:
- Chr3:36993574
| MLH1 | | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms | Likely pathogenic
(Sep 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37035069
- GRCh38:
- Chr3:36993578
| MLH1 | L11fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035070-37035071
- GRCh38:
- Chr3:36993579-36993580
| MLH1 | D12fs | not provided, Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Jul 23, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37035071-37035083
- GRCh38:
- Chr3:36993580-36993592
| MLH1 | | Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Dec 31, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37035072-37035074
- GRCh38:
- Chr3:36993581-36993583
| MLH1 | D12del | Hereditary cancer-predisposing syndrome | Pathogenic
(Oct 3, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035072-37035074
- GRCh38:
- Chr3:36993581-36993583
| MLH1 | D12* | Hereditary cancer-predisposing syndrome | Pathogenic
(Jun 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035073
- GRCh38:
- Chr3:36993582
| MLH1 | D12fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Aug 14, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035074-37035075
- GRCh38:
- Chr3:36993583-36993584
| MLH1 | T14fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035075-37035076
- GRCh38:
- Chr3:36993584-36993585
| MLH1 | E13fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035075-37035076
- GRCh38:
- Chr3:36993584-36993585
| MLH1 | T14fs | Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome, Hereditary cancer-predisposing syndrome
| Pathogenic
(Sep 1, 2016) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37035075-37035076
- GRCh38:
- Chr3:36993584-36993585
| MLH1 | E13fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035075
- GRCh38:
- Chr3:36993584
| MLH1 | E13fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035075
- GRCh38:
- Chr3:36993584
| MLH1 | E13* | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035076
- GRCh38:
- Chr3:36993585
| MLH1 | E13fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Mar 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035079-37035080
- GRCh38:
- Chr3:36993588-36993589
| MLH1 | V15fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Aug 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035081-37035082
- GRCh38:
- Chr3:36993590-36993591
| MLH1 | V16fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035084-37035090
- GRCh38:
- Chr3:36993593-36993599
| MLH1 | V16fs | Hereditary cancer-predisposing syndrome, not provided | Pathogenic
(Apr 3, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37035089-37035096
- GRCh38:
- Chr3:36993598-36993605
| MLH1 | R18fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Jul 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035089
- GRCh38:
- Chr3:36993598
| MLH1 | R18fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035091-37035115
- GRCh38:
- Chr3:36993600-36993624
| MLH1 | I19fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Aug 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035091-37035094
- GRCh38:
- Chr3:36993600-36993603
| MLH1 | R18fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Jan 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035092
- GRCh38:
- Chr3:36993601
| MLH1 | I19fs | Hereditary cancer-predisposing syndrome | Pathogenic
(May 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035093-37035101
- GRCh38:
- Chr3:36993602-36993610
| MLH1 | I19fs | Lynch syndrome 1 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035093
- GRCh38:
- Chr3:36993602
| MLH1 | I19F | Lynch syndrome 1 | Pathogenic
(Jun 13, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035096-37035115
- GRCh38:
- Chr3:36993605-36993624
| MLH1 | G22fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Oct 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035098
- GRCh38:
- Chr3:36993607
| MLH1 | A21fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035099
- GRCh38:
- Chr3:36993608
| MLH1 | A21P | Hereditary nonpolyposis colorectal neoplasms | Likely pathogenic
(Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035100-37035101
- GRCh38:
- Chr3:36993609-36993610
| MLH1 | E23fs | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided
| Pathogenic
(Mar 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37035100
- GRCh38:
- Chr3:36993609
| MLH1 | A21V | Lynch syndrome 1 | Pathogenic
(Nov 24, 2015) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035100
- GRCh38:
- Chr3:36993609
| MLH1 | A21E | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035101
- GRCh38:
- Chr3:36993610
| MLH1 | E23fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035102-37035103
- GRCh38:
- Chr3:36993611-36993612
| MLH1 | G22fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Dec 16, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035105
- GRCh38:
- Chr3:36993614
| MLH1 | E23* | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035106
- GRCh38:
- Chr3:36993615
| MLH1 | V24fs | Hereditary cancer-predisposing syndrome | Pathogenic
(May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035106-37035110
- GRCh38:
- Chr3:36993615-36993619
| MLH1 | E23fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Mar 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035108
- GRCh38:
- Chr3:36993617
| MLH1 | V24fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035109-37035110
- GRCh38:
- Chr3:36993618-36993619
| MLH1 | P28fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Jul 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035109-37035113
- GRCh38:
- Chr3:36993618-36993622
| MLH1 | V24fs | Hereditary cancer-predisposing syndrome, not provided | Pathogenic/Likely pathogenic
(Apr 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37035111
- GRCh38:
- Chr3:36993620
| MLH1 | I25fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035111
- GRCh38:
- Chr3:36993620
| MLH1 | I25F | Lynch syndrome | Likely pathogenic
(Jun 21, 2019) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035113
- GRCh38:
- Chr3:36993622
| MLH1 | Q26fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035114
- GRCh38:
- Chr3:36993623
| MLH1 | Q26* | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035115
- GRCh38:
- Chr3:36993624
| MLH1 | Q26fs | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Sep 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37035116
- GRCh38:
- Chr3:36993625
| MLH1 | Q26fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035121
- GRCh38:
- Chr3:36993630
| MLH1 | P28L | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035122
- GRCh38:
- Chr3:36993631
| MLH1 | A29fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035124
- GRCh38:
- Chr3:36993633
| MLH1 | A29G | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035132-37035133
- GRCh38:
- Chr3:36993641-36993642
| MLH1 | K33fs | Hereditary cancer-predisposing syndrome | Pathogenic
(May 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035132
- GRCh38:
- Chr3:36993641
| MLH1 | I32fs | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided
| Pathogenic
(Feb 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37035133
- GRCh38:
- Chr3:36993642
| MLH1 | I32N | Hereditary cancer-predisposing syndrome | Likely pathogenic
(May 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035134-37035135
- GRCh38:
- Chr3:36993643-36993644
| MLH1 | E34fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Nov 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035137-37035138
- GRCh38:
- Chr3:36993646-36993647
| MLH1 | E34fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035139-37035142
- GRCh38:
- Chr3:36993648-36993651
| MLH1 | E34fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Oct 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035142-37035143
- GRCh38:
- Chr3:36993651-36993652
| MLH1 | M35fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035142
- GRCh38:
- Chr3:36993651
| MLH1 | M35R | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035142-37035143
- GRCh38:
- Chr3:36993651-36993652
| MLH1 | M35N | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035147
- GRCh38:
- Chr3:36993656
| MLH1 | E37* | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035147
- GRCh38:
- Chr3:36993656
| MLH1 | E37K | Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome | Pathogenic/Likely pathogenic
(Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37035149
- GRCh38:
- Chr3:36993658
| MLH1 | N38fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Nov 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035150
- GRCh38:
- Chr3:36993659
| MLH1 | N38Y | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided
| Pathogenic/Likely pathogenic
(Dec 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37035150
- GRCh38:
- Chr3:36993659
| MLH1 | N38H | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035151
- GRCh38:
- Chr3:36993660
| MLH1 | N38S | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr3:37035152
- GRCh38:
- Chr3:36993661
| MLH1 | C39fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035152
- GRCh38:
- Chr3:36993661
| MLH1 | N38K | Lynch syndrome 1 | Likely pathogenic
(Jun 13, 2018) | reviewed by expert panel |