| - GRCh37:
- Chr3:37092000-37092001
- GRCh38:
- Chr3:37050509-37050510
| MLH1 | S353*, S370*, S470*, S613*, S642*, S656*, S678*, S680*, S711* | Lynch syndrome 1 | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr3:37067255
- GRCh38:
- Chr3:37025764
| MLH1 | E149fs, E292fs, E32fs, E357fs, E390fs, E49fs | Lynch syndrome 1 | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr3:37048482
- GRCh38:
- Chr3:37006991
| MLH1 | R127S, R29S, R94S | not provided | Uncertain significance (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37067151
- GRCh38:
- Chr3:37025660
| MLH1 | S258fs, S115fs, S323fs, S356fs, S15fs | Hereditary cancer-predisposing syndrome | Pathogenic (Nov 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37081702
- GRCh38:
- Chr3:37040211
| MLH1 | H495Q, H528Q, H170Q, H287Q, H187Q, H430Q | Hereditary cancer-predisposing syndrome | Uncertain significance (Feb 9, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37067190
- GRCh38:
- Chr3:37025699
| MLH1 | | Hereditary cancer-predisposing syndrome | Likely benign (Feb 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37067169
- GRCh38:
- Chr3:37025678
| MLH1 | | Hereditary cancer-predisposing syndrome | Likely benign (Mar 9, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37090473
- GRCh38:
- Chr3:37048982
| MLH1 | Y635H, Y332H, Y349H, Y449H, Y592H, Y659H, Y690H, Y657H | Hereditary cancer-predisposing syndrome | Uncertain significance (Mar 8, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37056005
- GRCh38:
- Chr3:37014514
| MLH1 | K156*, K13*, K221*, K254* | Hereditary cancer-predisposing syndrome | Likely pathogenic (Mar 16, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37083771
- GRCh38:
- Chr3:37042280
| MLH1 | F219L, F319L, F202L, F527L, F560L, F462L | Hereditary cancer-predisposing syndrome | Uncertain significance (Mar 14, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37067314-37067315
- GRCh38:
- Chr3:37025823-37025824
| MLH1 | A377fs, A169fs, A312fs, A410fs, A52fs, A69fs | Hereditary cancer-predisposing syndrome | Pathogenic (Mar 9, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37048527-37048532
- GRCh38:
- Chr3:37007036-37007041
| MLH1 | C142fs, C44fs, C109fs | Hereditary cancer-predisposing syndrome | Pathogenic (Feb 22, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37045965-37045966
- GRCh38:
- Chr3:37004474-37004475
| MLH1 | | Hereditary cancer-predisposing syndrome | Likely pathogenic (Feb 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37081706
- GRCh38:
- Chr3:37040215
| MLH1 | F289L, F172L, F189L, F432L, F497L, F530L | Hereditary cancer-predisposing syndrome | Uncertain significance (Feb 22, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37067333
- GRCh38:
- Chr3:37025842
| MLH1 | D57G, D317G, D415G, D74G, D382G, D174G | Hereditary cancer-predisposing syndrome | Uncertain significance (Feb 3, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37081747
- GRCh38:
- Chr3:37040256
| MLH1 | H302Q, H185Q, H445Q, H510Q, H543Q, H202Q | Hereditary cancer-predisposing syndrome | Uncertain significance (Jan 19, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37089081
- GRCh38:
- Chr3:37047590
| MLH1 | | Hereditary cancer-predisposing syndrome | Likely benign (Jan 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37055960
- GRCh38:
- Chr3:37014469
| MLH1 | A141S, A239S, A206S | Hereditary cancer-predisposing syndrome | Uncertain significance (Jan 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035057
- GRCh38:
- Chr3:36993566
| MLH1 | V7L | Hereditary cancer-predisposing syndrome | Uncertain significance (Feb 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37067272
- GRCh38:
- Chr3:37025781
| MLH1 | A297T, A37T, A395T, A362T, A154T, A54T | Hereditary cancer-predisposing syndrome | Uncertain significance (Jan 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035137
- GRCh38:
- Chr3:36993646
| MLH1 | | Hereditary cancer-predisposing syndrome | Likely benign (Dec 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035034
- GRCh38:
- Chr3:36993543
| MLH1 | | Hereditary cancer-predisposing syndrome | Uncertain significance (Jan 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37059053
- GRCh38:
- Chr3:37017562
| MLH1 | Y250H, Y283H, Y185H, Y42H | Hereditary cancer-predisposing syndrome | Uncertain significance (Jan 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37038109
- GRCh38:
- Chr3:36996618
| MLH1 | | Hereditary cancer-predisposing syndrome | Likely pathogenic (Dec 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37038105
- GRCh38:
- Chr3:36996614
| MLH1 | | Hereditary cancer-predisposing syndrome | Uncertain significance (Dec 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37053566-37053568
- GRCh38:
- Chr3:37012075-37012077
| MLH1 | | Hereditary cancer-predisposing syndrome | Uncertain significance (Dec 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37092049
- GRCh38:
- Chr3:37050558
| MLH1 | S657T, S671T, S485T, S693T, S368T, S385T, S726T, S628T, S695T | Hereditary cancer-predisposing syndrome | Uncertain significance (Nov 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37059014
- GRCh38:
- Chr3:37017523
| MLH1 | T237S, T172S, T270S, T29S | Hereditary cancer-predisposing syndrome | Uncertain significance (Dec 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37067413
- GRCh38:
- Chr3:37025922
| MLH1 | A344T, A442T, A101T, A201T, A409T, A84T | Hereditary cancer-predisposing syndrome | Uncertain significance (Dec 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37067271
- GRCh38:
- Chr3:37025780
| MLH1 | D153E, D361E, D53E, D296E, D36E, D394E | Hereditary cancer-predisposing syndrome | Uncertain significance (Nov 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37053531
- GRCh38:
- Chr3:37012040
| MLH1 | | Hereditary cancer-predisposing syndrome | Likely benign (Nov 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37053536
- GRCh38:
- Chr3:37012045
| MLH1 | P208H, P175H, P110H | Hereditary cancer-predisposing syndrome | Uncertain significance (Dec 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37089121-37089123
- GRCh38:
- Chr3:37047630-37047632
| MLH1 | L582del, L374del, L517del, L257del, L274del, L615del | Hereditary cancer-predisposing syndrome | Likely pathogenic (Dec 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37091973
- GRCh38:
- Chr3:37050482
| MLH1 | | Hereditary cancer-predisposing syndrome | Likely benign (Nov 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37038143
- GRCh38:
- Chr3:36996652
| MLH1 | I50M | Hereditary cancer-predisposing syndrome | Uncertain significance (Nov 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37065387
- GRCh38:
- Chr3:37023896
| MLH1 | | Hereditary cancer-predisposing syndrome | Uncertain significance (Nov 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37045896-37045897
- GRCh38:
- Chr3:37004405-37004406
| MLH1 | A105fs, A72fs, A7fs | Hereditary cancer-predisposing syndrome | Pathogenic (Nov 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37089092
- GRCh38:
- Chr3:37047601
| MLH1 | E507G, E364G, E247G, E264G, E605G, E572G | Hereditary cancer-predisposing syndrome | Uncertain significance (Nov 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37083783
- GRCh38:
- Chr3:37042292
| MLH1 | | Hereditary cancer-predisposing syndrome | Uncertain significance (Nov 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37090415
- GRCh38:
- Chr3:37048924
| MLH1 | E638fs, E640fs, E313fs, E330fs, E430fs, E671fs, E573fs, E616fs | Hereditary cancer-predisposing syndrome | Pathogenic (Nov 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37053311
- GRCh38:
- Chr3:37011820
| MLH1 | | Hereditary cancer-predisposing syndrome | Likely benign (Mar 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035138
- GRCh38:
- Chr3:36993647
| MLH1 | E34* | Hereditary cancer-predisposing syndrome | Pathogenic (Jan 20, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035033
- GRCh38:
- Chr3:36993542
| MLH1 | | not provided | Uncertain significance (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37090415
- GRCh38:
- Chr3:37048924
| MLH1 | K312N, K329N, K429N, K572N, K615N, K637N, K639N, K670N | not provided | Uncertain significance (Mar 14, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37089043
- GRCh38:
- Chr3:37047552
| MLH1 | A231P, A248P, A348P, A491P, A556P, A589P | Colorectal cancer, hereditary nonpolyposis, type 2 | Uncertain significance (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37089353
- GRCh38:
- Chr3:37047862
| MLH1 | | Lung adenocarcinoma | Uncertain significance (Jun 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37038546
- GRCh38:
- Chr3:36997055
| MLH1 | | Lung adenocarcinoma | Uncertain significance (Jun 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37055686-37055687
- GRCh38:
- Chr3:37014195-37014196
| MLH1 | | Lung adenocarcinoma | Uncertain significance (Jun 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37036171
- GRCh38:
- Chr3:36994680
| MLH1 | | Squamous cell carcinoma | Uncertain significance (Jun 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37070347-37070348
- GRCh38:
- Chr3:37028856-37028857
| MLH1 | T137fs, T154fs, T254fs, T397fs, T462fs, T495fs | Endometrial carcinoma | Pathogenic (Feb 21, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr3:37053565
- GRCh38:
- Chr3:37012074
| MLH1 | S120T, S185T, S218T | not provided | Uncertain significance (Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37034542-37035260
| EPM2AIP1, MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Uncertain significance (Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37034542-37035164
| MLH1, EPM2AIP1 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic (May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37034870-37035863
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic (Dec 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37050291-37061964
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Uncertain significance (Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37038099-37042554
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Likely pathogenic (Sep 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37089998-37092144
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Uncertain significance (May 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37081667-37083832
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Likely pathogenic (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37034542-37042554
| EPM2AIP1, MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic (Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37034542-37061964
| MLH1, EPM2AIP1 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37050291-37061964
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic (Nov 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37061789-37083832
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic (Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37037900-37038207
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic (Aug 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37061789-37061964
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic (Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37067313-37067347
- GRCh38:
- Chr3:37025822-37025856
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic (Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37090049
- GRCh38:
- Chr3:37048558
| MLH1 | Y591*, Y613*, Y305*, Y548*, Y288*, Y405*, Y646* | Hereditary nonpolyposis colorectal neoplasms | Pathogenic (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37090016
- GRCh38:
- Chr3:37048525
| MLH1 | N635K, N580K, N537K, N277K, N602K, N294K, N394K | Hereditary nonpolyposis colorectal neoplasms | Uncertain significance (Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37081781
- GRCh38:
- Chr3:37040290
| MLH1 | L522V, L197V, L214V, L555V, L314V, L457V | Hereditary nonpolyposis colorectal neoplasms | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37053346
- GRCh38:
- Chr3:37011855
| MLH1 | K196fs, K163fs, K98fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic (Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37050399-37050400
- GRCh38:
- Chr3:37008908-37008909
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Uncertain significance (Aug 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37050291
- GRCh38:
- Chr3:37008800
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Likely benign (Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035103
- GRCh38:
- Chr3:36993612
| MLH1 | G22E | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome | Uncertain significance (Dec 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37048569
- GRCh38:
- Chr3:37007078
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Likely benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37090473
- GRCh38:
- Chr3:37048982
| MLH1 | Y659D, Y449D, Y592D, Y635D, Y690D, Y332D, Y657D, Y349D | Hereditary nonpolyposis colorectal neoplasms | Uncertain significance (Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37034562
- GRCh38:
- Chr3:36993071
| MLH1, EPM2AIP1 | M3V | Hereditary nonpolyposis colorectal neoplasms | Uncertain significance (Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37042429
- GRCh38:
- Chr3:37000938
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Uncertain significance (Apr 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035140
- GRCh38:
- Chr3:36993649
| MLH1 | E34D | Hereditary nonpolyposis colorectal neoplasms | Uncertain significance (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035174
- GRCh38:
- Chr3:36993683
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Likely benign (Dec 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035173
- GRCh38:
- Chr3:36993682
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Likely benign (Feb 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37053354
- GRCh38:
- Chr3:37011863
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic (Aug 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37050362
- GRCh38:
- Chr3:37008871
| MLH1 | E138K, E73K, E171K | Hereditary nonpolyposis colorectal neoplasms | Uncertain significance (Jun 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37081711
- GRCh38:
- Chr3:37040220
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Likely benign (Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37067234
- GRCh38:
- Chr3:37025743
| MLH1 | Q141R, Q349R, Q41R, Q24R, Q284R, Q382R | Hereditary nonpolyposis colorectal neoplasms | Uncertain significance (Sep 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37053365
- GRCh38:
- Chr3:37011874
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Likely benign (Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37090038
- GRCh38:
- Chr3:37048547
| MLH1 | I302V, I545V, I402V, I588V, I610V, I285V, I643V | Hereditary nonpolyposis colorectal neoplasms | Uncertain significance (May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37092138
- GRCh38:
- Chr3:37050647
| MLH1 | R686S, R722S, R724S, R414S, R514S, R657S, R700S, R755S, R397S | Hereditary nonpolyposis colorectal neoplasms | Uncertain significance (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37081775-37081778
- GRCh38:
- Chr3:37040284-37040287
| MLH1 | T195fs, T553fs, T212fs, T455fs, T520fs, T312fs | Hereditary nonpolyposis colorectal neoplasms | Pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37067414
- GRCh38:
- Chr3:37025923
| MLH1 | A101V, A409V, A84V, A442V, A201V, A344V | Hereditary nonpolyposis colorectal neoplasms | Uncertain significance (May 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37053491
- GRCh38:
- Chr3:37012000
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Likely benign (Apr 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37070268
- GRCh38:
- Chr3:37028777
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Likely benign (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37053596
- GRCh38:
- Chr3:37012105
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Uncertain significance (Apr 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37050403
- GRCh38:
- Chr3:37008912
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Likely benign (Apr 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37050288
- GRCh38:
- Chr3:37008797
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Uncertain significance (Apr 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37091960
- GRCh38:
- Chr3:37050469
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Likely benign (Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37089105
- GRCh38:
- Chr3:37047614
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Likely benign (Apr 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37081723
- GRCh38:
- Chr3:37040232
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Likely benign (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37042438
- GRCh38:
- Chr3:37000947
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Uncertain significance (Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37083835
- GRCh38:
- Chr3:37042344
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Likely benign (Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37055996
- GRCh38:
- Chr3:37014505
| MLH1 | Y218H, Y10H, Y251H, Y153H | Hereditary nonpolyposis colorectal neoplasms | Uncertain significance (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37059030
- GRCh38:
- Chr3:37017539
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic (Apr 1, 2022) | criteria provided, single submitter |