| - GRCh37:
- Chr3:37059011
- GRCh38:
- Chr3:37017520
| MLH1 | S171fs, S236fs, S269fs, S28fs | Colorectal cancer, hereditary nonpolyposis, type 2 | Pathogenic
(Oct 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035130
- Chr3:37035129
- GRCh38:
- Chr3:36993639
- Chr3:36993638
| MLH1, MLH1 | A31G, A31S | not specified | Uncertain significance
(Aug 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37092058-37092059
- GRCh38:
- Chr3:37050567-37050568
| MLH1 | P372fs, P389fs, P489fs, P632fs, P661fs, P675fs, P697fs, P699fs, P730fs | Colorectal cancer, hereditary nonpolyposis, type 2 | Pathogenic
(Feb 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37090494-37090495
- GRCh38:
- Chr3:37049003-37049004
| MLH1 | L339fs, L356fs, L456fs, L599fs, L642fs, L664fs, L666fs, L697fs | Colorectal cancer, hereditary nonpolyposis, type 2 | Pathogenic
(Apr 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37067332
- GRCh38:
- Chr3:37025841
| MLH1 | D174fs, D317fs, D382fs, D415fs, D57fs, D74fs | Colorectal cancer, hereditary nonpolyposis, type 2 | Pathogenic
(Mar 21, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37061952
- GRCh38:
- Chr3:37020461
| MLH1 | Q105*, Q248*, Q313*, Q346*, Q5* | Colorectal cancer, hereditary nonpolyposis, type 2 | Pathogenic
(Jul 7, 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:
- Chr3:37081705-37081713
- GRCh38:
- Chr3:37040214-37040222
| MLH1 | | Colorectal cancer, hereditary nonpolyposis, type 2 | Likely pathogenic
(May 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37038126-37038128
- GRCh38:
- Chr3:36996635-36996637
| MLH1 | T45del | Colorectal cancer, hereditary nonpolyposis, type 2 | Likely pathogenic
(Jun 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37089174
- GRCh38:
- Chr3:37047683
| MLH1 | E391D, E291D, E599D, E274D, E534D, E632D | Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 2 | Likely pathogenic
(Dec 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37067127
- GRCh38:
- Chr3:37025636
| MLH1 | | Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 2 | Pathogenic
(Dec 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37038109
- GRCh38:
- Chr3:36996618
| MLH1 | | Colorectal cancer, hereditary nonpolyposis, type 2 | Pathogenic
(Sep 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37090077
- GRCh38:
- Chr3:37048586
| MLH1 | F298V, F315V, F415V, F558V, F601V, F623V, F656V | Colorectal cancer, hereditary nonpolyposis, type 2 | Uncertain significance
(Aug 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37089044
- GRCh38:
- Chr3:37047553
| MLH1 | | Colorectal cancer, hereditary nonpolyposis, type 2 | Pathogenic
(Jul 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37061907
- GRCh38:
- Chr3:37020416
| MLH1 | E233Q, E298Q, E331Q, E90Q | Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 2 | Uncertain significance
(Jul 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37083825
- GRCh38:
- Chr3:37042334
| MLH1 | | Colorectal cancer, hereditary nonpolyposis, type 2 | Uncertain significance
(Jul 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37092010-37092023
- GRCh38:
- Chr3:37050519-37050532
| MLH1 | K355fs, K658fs, K615fs, K680fs, K713fs, K372fs, K472fs, K682fs, K644fs | Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary cancer-predisposing syndrome
| Pathogenic
(Mar 1, 2023) | 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:
- Chr3:37086066-37089603
- GRCh38:
- Chr3:37044575-37048112
| MLH1 | | Colorectal cancer, hereditary nonpolyposis, type 2 | Pathogenic
(Dec 1, 1996) | no assertion criteria provided |
| - 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:
- Chr3:37092065
- GRCh38:
- Chr3:37050574
| MLH1 | P373H, P390H, P490H, P633H, P662H, P676H, P698H, P700H, P731H | Colorectal cancer, hereditary nonpolyposis, type 2 | Uncertain significance
(Jul 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37090454
- GRCh38:
- Chr3:37048963
| MLH1 | F325L, F342L, F442L, F585L, F628L, F650L, F652L, F683L | Hereditary cancer-predisposing syndrome, not provided, Colorectal cancer, hereditary nonpolyposis, type 2
| Conflicting interpretations of pathogenicity
(Apr 3, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37083784-37083787
- GRCh38:
- Chr3:37042293-37042296
| MLH1 | I207fs, I224fs, I324fs, I467fs, I532fs, I565fs | Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary cancer-predisposing syndrome | Pathogenic
(Jan 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - 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 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:
- Chr3:37035108
- GRCh38:
- Chr3:36993617
| MLH1 | V24I | Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer, hereditary nonpolyposis, type 2 | Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37035071-37035083
- GRCh38:
- Chr3:36993580-36993592
| MLH1 | | Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 2 | Pathogenic/Likely pathogenic
(Dec 31, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37081713
- GRCh38:
- Chr3:37040222
| MLH1 | G174D, G191D, G291D, G434D, G499D, G532D | Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colon cancer, Hereditary cancer-predisposing syndrome,
Colorectal cancer, hereditary nonpolyposis, type 2 | Conflicting interpretations of pathogenicity
(Apr 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37070393-37070397
- GRCh38:
- Chr3:37028902-37028906
| MLH1 | Q269fs, Q152fs, Q477fs, Q169fs, Q412fs, Q510fs | Colorectal cancer, hereditary nonpolyposis, type 2 | Likely pathogenic | criteria provided, single submitter |
| - 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:
- Chr3:37067218
- GRCh38:
- Chr3:37025727
| MLH1 | K19E, K136E, K36E, K344E, K279E, K377E | not provided, Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary cancer-predisposing syndrome
| Uncertain significance
(Dec 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37045940
- GRCh38:
- Chr3:37004449
| MLH1 | T86A, T119A, T21A | Colorectal cancer, hereditary nonpolyposis, type 2 | Likely pathogenic
(May 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035129
- GRCh38:
- Chr3:36993638
| MLH1 | A31S | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 2,
not provided | Conflicting interpretations of pathogenicity
(Mar 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37092265
- GRCh38:
- Chr3:37050774
| MLH1 | | Colorectal cancer, hereditary nonpolyposis, type 2 | Uncertain significance
(Dec 2, 2019) | criteria provided, single submitter |
| - 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:
- Chr3:37067431
- GRCh38:
- Chr3:37025940
| MLH1 | E415*, E90*, E107*, E207*, E350*, E448* | Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 2 | Pathogenic
(Jan 24, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37059096
- GRCh38:
- Chr3:37017605
| MLH1 | | Colorectal cancer, hereditary nonpolyposis, type 2 | Uncertain significance
(Nov 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37090137
- GRCh38:
- Chr3:37048646
| MLH1 | | Colorectal cancer, hereditary nonpolyposis, type 2 | Likely benign
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37081661
- GRCh38:
- Chr3:37040170
| MLH1 | | Colorectal cancer, hereditary nonpolyposis, type 2 | Likely benign
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37067369
- GRCh38:
- Chr3:37025878
| MLH1 | D187fs, D330fs, D395fs, D428fs, D70fs, D87fs | Colorectal cancer, hereditary nonpolyposis, type 2 | Likely benign
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37067121-37067129
- GRCh38:
- Chr3:37025630-37025638
| MLH1 | | Colorectal cancer, hereditary nonpolyposis, type 2 | Uncertain significance
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37067096-37067101
- GRCh38:
- Chr3:37025605-37025610
| MLH1 | | Hereditary cancer-predisposing syndrome, not specified, Colorectal cancer, hereditary nonpolyposis, type 2,
not provided | Benign/Likely benign
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37067093
- GRCh38:
- Chr3:37025602
| MLH1 | | not specified, Colorectal cancer, hereditary nonpolyposis, type 2 | Benign/Likely benign
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37061859-37061867
- GRCh38:
- Chr3:37020368-37020376
| MLH1 | | Colorectal cancer, hereditary nonpolyposis, type 2 | Uncertain significance
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37038723
- GRCh38:
- Chr3:36997232
| MLH1 | | Colorectal cancer, hereditary nonpolyposis, type 2 | Likely benign
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37035181
- GRCh38:
- Chr3:36993690
| MLH1 | | Colorectal cancer, hereditary nonpolyposis, type 2 | Likely benign
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37038193
- GRCh38:
- Chr3:36996702
| MLH1 | G67V | Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary nonpolyposis colorectal neoplasms | Conflicting interpretations of pathogenicity
(Jun 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37067422
- GRCh38:
- Chr3:37025931
| MLH1 | Q104*, Q347*, Q412*, Q445*, Q87*, Q204* | Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
| Pathogenic
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - 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:
- Chr3:37035012
- Chr3:37035123
- GRCh38:
- Chr3:36993521
- Chr3:36993632
| MLH1, MLH1 | A29S | Lynch syndrome 1 | Pathogenic
(Mar 9, 2018) | reviewed by expert panel |
| - 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:
- Chr3:37070273-37070274
- GRCh38:
- Chr3:37028782-37028783
| MLH1 | | Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer, hereditary nonpolyposis, type 2,
Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Mar 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37089142
- GRCh38:
- Chr3:37047651
| MLH1 | A265fs, A525fs, A282fs, A590fs, A623fs, A382fs | Lynch syndrome, Colorectal cancer, hereditary nonpolyposis, type 2 | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37067476
- GRCh38:
- Chr3:37025985
| MLH1 | G463*, G430*, G122*, G365*, G105*, G222* | Lynch syndrome, Colorectal cancer, hereditary nonpolyposis, type 2 | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37067366-37067367
- GRCh38:
- Chr3:37025875-37025876
| MLH1 | Q186fs, Q329fs, Q69fs, Q86fs, Q427fs, Q394fs | Lynch syndrome, Colorectal cancer, hereditary nonpolyposis, type 2 | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37061958
- GRCh38:
- Chr3:37020467
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome, Hereditary cancer-predisposing syndrome,
Colorectal cancer, hereditary nonpolyposis, type 2 | Uncertain significance
(Mar 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37050365
- GRCh38:
- Chr3:37008874
| MLH1 | E172*, E139*, E74* | Lynch syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 2
| Pathogenic
(May 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37038179
- GRCh38:
- Chr3:36996688
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome, Colorectal cancer, hereditary nonpolyposis, type 2
| Conflicting interpretations of pathogenicity
(May 28, 2019) | criteria provided, conflicting interpretations |
| - 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:
- Chr3:37050389
- GRCh38:
- Chr3:37008898
| MLH1 | V180F, V147F, V82F | Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer, hereditary nonpolyposis, type 2 | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37056050-37056051
- GRCh38:
- Chr3:37014559-37014560
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer, hereditary nonpolyposis, type 2 | Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37038062
- GRCh38:
- Chr3:36996571
| MLH1 | | Colorectal cancer, hereditary nonpolyposis, type 2 | Likely benign
(Jan 23, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37083776
- GRCh38:
- Chr3:37042285
| MLH1 | Q562P, Q204P, Q221P, Q321P, Q464P, Q529P | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer, hereditary nonpolyposis, type 2
| Conflicting interpretations of pathogenicity
(Aug 12, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37081748-37081749
- GRCh38:
- Chr3:37040257-37040258
| MLH1 | T187fs, T545fs, T512fs, T204fs, T447fs, T304fs | Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 2 | Pathogenic/Likely pathogenic
(Jan 17, 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:
- 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:
- Chr3:37083822
- GRCh38:
- Chr3:37042331
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 2
| Pathogenic/Likely pathogenic
(Jun 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37053597
- GRCh38:
- Chr3:37012106
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 2
| Likely benign
(Mar 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37083836
- GRCh38:
- Chr3:37042345
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not specified,
Colorectal cancer, hereditary nonpolyposis, type 2 | Likely benign
(Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37045909
- GRCh38:
- Chr3:37004418
| MLH1 | H109fs, H11fs, H76fs | Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 2 | Pathogenic/Likely pathogenic
(Mar 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37061827
- GRCh38:
- Chr3:37020336
| MLH1 | D271fs, D304fs, D63fs, D206fs | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 2
| Pathogenic
(Aug 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37092045
- GRCh38:
- Chr3:37050554
| MLH1 | | Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 2 | Benign/Likely benign
(Mar 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37067124
- GRCh38:
- Chr3:37025633
| MLH1 | | Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary cancer-predisposing syndrome
| Likely benign
(Mar 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37035090
- GRCh38:
- Chr3:36993599
| MLH1 | R18G | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 2
| Uncertain significance
(Jan 26, 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:
- Chr3:37083773
- GRCh38:
- Chr3:37042282
| MLH1 | Y561C, Y203C, Y220C, Y528C, Y320C, Y463C | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 2,
not specified | Uncertain significance
(May 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - 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:
- Chr3:37053502
- GRCh38:
- Chr3:37012011
| MLH1 | Q197*, Q99*, Q164* | not provided, Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 2,
Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Sep 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - 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:
- Chr3:37070406
- GRCh38:
- Chr3:37028915
| MLH1 | N514S, N273S, N481S, N173S, N416S, N156S | Hereditary cancer-predisposing syndrome, not provided, Colorectal cancer, hereditary nonpolyposis, type 2,
Hereditary nonpolyposis colorectal neoplasms | Uncertain significance
(Sep 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37070306
- GRCh38:
- Chr3:37028815
| MLH1 | M481V, M123V, M140V, M383V, M240V, M448V | Hereditary cancer-predisposing syndrome, not provided, Hereditary nonpolyposis colorectal neoplasms,
Ovarian cancer, Colorectal cancer, hereditary nonpolyposis, type 2 | Conflicting interpretations of pathogenicity
(Dec 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37070273
- GRCh38:
- Chr3:37028782
| MLH1 | | not provided, Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary nonpolyposis colorectal neoplasms,
Hereditary cancer-predisposing syndrome | Likely pathogenic
(Nov 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37067386
- GRCh38:
- Chr3:37025895
| MLH1 | E433*, E75*, E92*, E335*, E192*, E400* | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided,
Colorectal cancer, hereditary nonpolyposis, type 2 | Pathogenic/Likely pathogenic
(Mar 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37038137
- GRCh38:
- Chr3:36996646
| MLH1 | Q48H | Hereditary nonpolyposis colorectal neoplasms, not provided, Hereditary cancer-predisposing syndrome,
Colorectal cancer, hereditary nonpolyposis, type 2 | Uncertain significance
(Jul 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37090429
- GRCh38:
- Chr3:37048938
| MLH1 | S675T, S334T, S620T, S434T, S577T, S642T, S644T, S317T | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer, hereditary nonpolyposis, type 2,
not specified | Uncertain significance
(Sep 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37061878-37061879
- GRCh38:
- Chr3:37020387-37020388
| MLH1 | S241fs, S306fs, S339fs, S98fs | Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer, hereditary nonpolyposis, type 2, Lynch syndrome
| Pathogenic
(Oct 7, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37067342
- GRCh38:
- Chr3:37025851
| MLH1 | D418G, D385G, D60G, D320G, D177G, D77G | Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome,
not provided | Uncertain significance
(Jun 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37067489
- GRCh38:
- Chr3:37025998
| MLH1 | S126fs, S434fs, S109fs, S467fs, S226fs, S369fs | Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome,
not provided | Pathogenic
(Sep 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37042519
- GRCh38:
- Chr3:37001028
| MLH1 | S95fs | Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary nonpolyposis colorectal neoplasms,
not provided | Pathogenic/Likely pathogenic
(Mar 10, 2023) | 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 cancer-predisposing syndrome, not provided, Turcot syndrome,
Muir-Torré syndrome, Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary nonpolyposis colorectal neoplasms
| Uncertain significance
(Sep 22, 2023) | 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:
- Chr3:37090493
- GRCh38:
- Chr3:37049002
| MLH1 | | not provided, Hereditary cancer-predisposing syndrome, not specified,
Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary nonpolyposis colorectal neoplasms | Benign/Likely benign
(Mar 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37092115
- GRCh38:
- Chr3:37050624
| MLH1 | D748H, D717H, D390H, D679H, D407H, D507H, D715H, D650H, D693H | Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary nonpolyposis colorectal neoplasms
| Uncertain significance
(Dec 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37067239
- GRCh38:
- Chr3:37025748
| MLH1 | V384I, V143I, V26I, V286I, V351I, V43I | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer, hereditary nonpolyposis, type 2,
Turcot syndrome | Uncertain significance
(Dec 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37056024
- GRCh38:
- Chr3:37014533
| MLH1 | L260H, L227H, L162H, L19H | Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms,
not provided | Conflicting interpretations of pathogenicity
(Mar 10, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:37053565
- GRCh38:
- Chr3:37012074
| MLH1 | S218P, S185P, S120P | Colorectal cancer, hereditary nonpolyposis, type 2, Hereditary cancer-predisposing syndrome, Lynch syndrome,
not specified, Hereditary nonpolyposis colorectal neoplasms | Conflicting interpretations of pathogenicity
(Sep 6, 2022) | criteria provided, conflicting interpretations |