Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)	SNV Germline	Chr2:47429881	Pathogenic	Lynch syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Gastric cancer	Reviewed By Expert Panel	CA017519	rs_63751108	25 SubmittersRCV000001825 RCV000162489 RCV000202291 RCV000030238 RCV000524334 RCV000677885 RCV000763491 RCV003162204
NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter)	SNV Germline	Chr2:47475066	Pathogenic	Muir-Torré syndrome Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1	Reviewed By Expert Panel	CA019344	rs_63750047	8 SubmittersRCV000001828 RCV000076290 RCV000428558 RCV000491732 RCV000809096 RCV003450612
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)	SNV Germline	Chr2:47475171	Pathogenic	Lynch syndrome Lynch syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon	Reviewed By Expert Panel	CA019533	rs_63750875	21 SubmittersRCV000030245 RCV000376757 RCV000130428 RCV000202220 RCV000763493 RCV000524366 RCV001353396
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)	SNV Germline/somatic	Chr3:37012098	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome 1 Lynch-like syndrome Mismatch repair cancer syndrome 1 Condition: not provided Breast and/or ovarian cancer Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome	Reviewed By Expert Panel	CA011496	rs_63751615	23 SubmittersRCV000075801 RCV000115485 RCV000018616 RCV001093685 RCV001249951 RCV001267883 RCV000202205 RCV003149572 RCV000524311 RCV003137535
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)	SNV Germline	Chr3:37048955	Pathogenic	not specified Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Muir-Torré syndrome Muir-Torré syndrome Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008304	rs_63750217	24 SubmittersRCV000202172 RCV000018632 RCV000519240 RCV000213700 RCV000075495 RCV000524270 RCV001328323 RCV002288511 RCV000763105
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)	SNV Germline/somatic	Chr3:37025979	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Lynch-like syndrome	Reviewed By Expert Panel	CA005183	rs_63750540	17 SubmittersRCV000030213 RCV000202201 RCV000132422 RCV000659871 RCV000763102 RCV000524235 RCV001804748 RCV001249929
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)	SNV Germline	Chr3:37025764	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 MLH1-related disorder Hereditary nonpolyposis colorectal neoplasms	Criteria Provided Conflicting Classifications	CA004569	rs_63750361	19 SubmittersRCV000034538 RCV000132154 RCV000221418 RCV000412195 RCV000764491 RCV003914904 RCV001086754
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser)	SNV Germline	Chr2:47471051	Conflicting classifications of pathogenicity	Condition: not provided Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, non-polyposis Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colorectal neoplasms not specified Malignant tumor of breast Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA019161	rs_201118107	16 SubmittersRCV000034553 RCV000076263 RCV000115510 RCV000148636 RCV000765667 RCV001079601 RCV002265576 RCV001354468 RCV003492329
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)	SNV Germline	Chr2:47475052	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome Colorectal cancer, non-polyposis not specified Lynch syndrome 1 Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colorectal neoplasms Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA019304	rs_41295288	23 SubmittersRCV000034554 RCV000115511 RCV000076286 RCV000148641 RCV000200985 RCV000659882 RCV000765668 RCV001081309 RCV003149607
NM_000249.4(MLH1):c.218T>G (p.Leu73Arg)	SNV Germline	Chr3:37000965	Pathogenic/Likely pathogenic	Mismatch repair cancer syndrome 1 Hereditary cancer-predisposing syndrome Muir-Torré syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Multiple Submitters No Conflicts	CA009060	rs_397514684	5 SubmittersRCV000035016 RCV000213759 RCV003137557 RCV003153327 RCV003335062
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)	SNV Germline	Chr3:37020438	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Colorectal cancer, non-polyposis not specified Hereditary nonpolyposis colorectal neoplasms Condition: not provided Malignant tumor of breast Hereditary breast ovarian cancer syndrome Lynch syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA004051	rs_63751467	18 SubmittersRCV000128912 RCV000148621 RCV000220791 RCV000524219 RCV000656860 RCV001356843 RCV003483462 RCV003997106 RCV000764485 RCV000987162
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)	SNV Germline	Chr3:37025751	Conflicting classifications of pathogenicity	Lynch syndrome not specified Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Hereditary cancer Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA004503	rs_63750760	14 SubmittersRCV000075124 RCV000202088 RCV000524225 RCV000490290 RCV000656862 RCV001030628 RCV000217569 RCV003149731 RCV003492407 RCV000764489
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)	SNV Germline	Chr3:37025958	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided not specified Breast and/or ovarian cancer Hereditary nonpolyposis colon cancer Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Criteria Provided Conflicting Classifications	CA005085	rs_63750527	18 SubmittersRCV000115458 RCV000410484 RCV000587838 RCV000200984 RCV003149732 RCV003148646 RCV000764492 RCV001080105
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)	SNV Germline/somatic	Chr3:37028833	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome 1 Lynch-like syndrome Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA005475	rs_63749795	22 SubmittersRCV000075218 RCV000255034 RCV000128870 RCV000524240 RCV000763103 RCV001093677 RCV001249944 RCV001353584 RCV000662808
NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg)	SNV Germline	Chr3:37028861	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 not specified Lynch syndrome	Criteria Provided Conflicting Classifications	CA005534	rs_63750226	12 SubmittersRCV000221321 RCV000409591 RCV000483364 RCV000627722 RCV000764493 RCV002228178 RCV003997114
NM_000249.4(MLH1):c.1559-1G>C	SNV Germline	Chr3:37040185	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Muir-Torré syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA005891	rs_267607837	7 SubmittersRCV000075254 RCV000539690 RCV001091800 RCV003448260 RCV001012154 RCV003455989
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)	SNV Germline	Chr3:37042331	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colon cancer Colon cancer Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Breast and/or ovarian cancer	Reviewed By Expert Panel	CA006585	rs_63751657	18 SubmittersRCV000075331 RCV000202231 RCV000132025 RCV000662481 RCV001553748 RCV001580146 RCV001804815 RCV002483122 RCV000524246 RCV003492410
NM_000249.4(MLH1):c.1897-2A>G	SNV Germline	Chr3:37048515	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary cancer-predisposing syndrome not specified Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA007469	rs_267607871	12 SubmittersRCV000075411 RCV000524638 RCV000662785 RCV000487325 RCV000570210 RCV001844029 RCV000763104
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)	SNV Germline	Chr3:36996693	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 1 Aqueductal stenosis Choreoathetosis Global developmental delay Lynch syndrome Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA007619	rs_63750952	15 SubmittersRCV000075426 RCV000217492 RCV000513562 RCV000490571 RCV000584818 RCV000708912 RCV001262297 RCV002288569
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu)	SNV Germline	Chr3:37048563	Likely pathogenic	Lynch syndrome 1 Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Lynch syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA007716	rs_63750610	8 SubmittersRCV000075433 RCV000221413 RCV000477957 RCV001269952 RCV003997119 RCV000812087
NM_000249.4(MLH1):c.2042C>T (p.Ala681Val)	SNV Germline	Chr3:37048956	Conflicting classifications of pathogenicity	Condition: not provided Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA008313	rs_63750864	4 SubmittersRCV000213632 RCV000764497 RCV000698693 RCV002415533
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)	SNV Germline	Chr3:37048973	Pathogenic	Lynch syndrome Condition: not provided Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome 1 Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms MLH1-related disorder Carcinoma of colon	Reviewed By Expert Panel	CA008336	rs_63751275	22 SubmittersRCV000075499 RCV000481137 RCV000763106 RCV001093679 RCV000215428 RCV000411954 RCV000524272 RCV003915039 RCV001356525
NM_000249.4(MLH1):c.208-3C>G	SNV Germline/somatic	Chr3:37000952	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008526	rs_267607720	8 SubmittersRCV000075517 RCV000524274 RCV000160554 RCV000562969 RCV000763098 RCV003451102
NM_000249.4(MLH1):c.2153A>C (p.His718Pro)	SNV Germline	Chr3:37050535	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome	Reviewed By Expert Panel	CA008900	rs_587778983	3 SubmittersRCV000075557 RCV000694232 RCV002247469
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys)	SNV Germline	Chr3:37050544	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms not specified MLH1-related disorder Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome	Criteria Provided Conflicting Classifications	CA008958	rs_587778986	13 SubmittersRCV000160544 RCV000212548 RCV000409675 RCV000524278 RCV000781540 RCV003390768 RCV002483123 RCV003997125
NM_000249.4(MLH1):c.2174G>A (p.Arg725His)	SNV Germline	Chr3:37050556	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Criteria Provided Conflicting Classifications	CA009007	rs_566928243	16 SubmittersRCV000075568 RCV000115473 RCV000212549 RCV000586779 RCV000764498 RCV001147135 RCV001079417
NM_000249.4(MLH1):c.306+5G>A	SNV Germline	Chr3:37001058	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Condition: not provided Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1	Reviewed By Expert Panel	CA009684	rs_267607735	9 SubmittersRCV000022504 RCV000075634 RCV000202186 RCV000763099 RCV001018363 RCV001045822 RCV001804820
NM_000249.4(MLH1):c.347C>A (p.Thr116Lys)	SNV Germline	Chr3:37004441	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms not specified Lynch syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA009850	rs_63750465	10 SubmittersRCV000115481 RCV000235173 RCV000410226 RCV000524292 RCV000780414 RCV003997128 RCV000764481
NM_000249.4(MLH1):c.588+5G>A	SNV Germline	Chr3:37011867	Pathogenic	Lynch syndrome Condition: not provided Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA011130	rs_267607768	10 SubmittersRCV000075774 RCV000213543 RCV000763100 RCV000572458 RCV000627715 RCV001255542 RCV003452753
NM_000249.4(MLH1):c.589-1G>T	SNV Germline	Chr3:37012010	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA011182	rs_587779027	6 SubmittersRCV000075779 RCV001070764 RCV003452754 RCV002258789 RCV002483124
NM_000249.4(MLH1):c.791-1G>C	SNV Germline	Chr3:37017505	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA012277	rs_267607795	7 SubmittersRCV000075860 RCV001183311 RCV001388082 RCV002247470 RCV001723644 RCV003452771
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)	SNV Germline	Chr3:37020380	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 1 not specified Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Malignant tumor of breast MLH1-related disorder Hereditary cancer	Criteria Provided Conflicting Classifications	CA013293	rs_63750796	21 SubmittersRCV000075945 RCV000115489 RCV000144597 RCV000212528 RCV000410221 RCV000656859 RCV000524325 RCV000764484 RCV001357697 RCV003915040 RCV003492419
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)	SNV Germline/somatic	Chr2:47416398	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Condition: not provided Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer not specified	Criteria Provided Conflicting Classifications	CA016975	rs_267607939	15 SubmittersRCV000128932 RCV000148635 RCV000588936 RCV000764423 RCV000986664 RCV001085377 RCV002279934 RCV001844030
NM_000251.3(MSH2):c.1076+1G>A	SNV Germline	Chr2:47416430	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Lynch syndrome 1	Reviewed By Expert Panel	CA017072	rs_267607940	9 SubmittersRCV000076014 RCV000485147 RCV000132414 RCV000541273 RCV000763489 RCV003452798
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)	SNV Germline/somatic	Chr2:47429812	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Lynch-like syndrome Rhabdomyosarcoma MSH2-related disorder Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome	Reviewed By Expert Panel	CA017356	rs_63749849	22 SubmittersRCV000076049 RCV000202261 RCV000221364 RCV000576748 RCV000524330 RCV001192613 RCV001249954 RCV001257542 RCV004537287 RCV000763490
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)	SNV Germline	Chr2:47429882	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome 1 not specified Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Breast and/or ovarian cancer Hereditary nonpolyposis colorectal neoplasms Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA017527	rs_146567853	14 SubmittersRCV000212599 RCV000132166 RCV000411777 RCV000781558 RCV000765665 RCV001798264 RCV001083003 RCV001356152
NM_000251.3(MSH2):c.1276+1G>T	SNV Germline	Chr2:47429942	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2 Condition: not provided Lynch syndrome 1	Reviewed By Expert Panel	CA017756	rs_267607950	6 SubmittersRCV000076088 RCV000491760 RCV000707663 RCV002498365 RCV003237437 RCV003452816
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)	SNV Germline	Chr2:47403319	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Lynch syndrome 1 Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome Lynch syndrome MSH2-related disorder Condition: not provided Sarcoma	Criteria Provided Conflicting Classifications	CA017905	rs_17217723	15 SubmittersRCV000131211 RCV000212578 RCV000409784 RCV000764419 RCV000524339 RCV003330424 RCV004537289 RCV000656872 RCV001262887
NM_000251.3(MSH2):c.1661+1G>T	SNV Germline/somatic	Chr2:47466809	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1	Reviewed By Expert Panel	CA018841	rs_267607969	7 SubmittersRCV000076217 RCV000491252 RCV001070711 RCV000986676 RCV002498366
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter)	SNV Germline/somatic	Chr2:47475126	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Lynch-like syndrome Hereditary nonpolyposis colon cancer Breast carcinoma	Reviewed By Expert Panel	CA019461	rs_63750508	18 SubmittersRCV000076305 RCV000414448 RCV000524364 RCV000491286 RCV000602838 RCV000763492 RCV001249915 RCV001328039 RCV001650893
NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu)	SNV Germline	Chr2:47476370	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Condition: not provided Lynch syndrome 1 not specified Lynch syndrome	Criteria Provided Conflicting Classifications	CA019790	rs_41294982	8 SubmittersRCV000220086 RCV000524371 RCV000765672 RCV000483333 RCV003389040 RCV002265597 RCV003997156
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)	SNV Germline/somatic	Chr2:47476492	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 not specified Lynch-like syndrome Lynch syndrome 1	Reviewed By Expert Panel	CA020107	rs_63750636	25 SubmittersRCV000076405 RCV000129341 RCV000202062 RCV000524377 RCV000763494 RCV001000186 RCV001249926 RCV002272055
NM_000251.3(MSH2):c.2516A>G (p.His839Arg)	SNV Germline	Chr2:47480753	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Malignant tumor of breast Ovarian cancer not specified	Criteria Provided Conflicting Classifications	CA020662	rs_63750027	10 SubmittersRCV000076492 RCV000166332 RCV000486446 RCV000765673 RCV000986690 RCV001085048 RCV001354097 RCV003153356 RCV004525868
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)	SNV Germline	Chr2:47410162	Conflicting classifications of pathogenicity	Colorectal cancer, non-polyposis not specified Hereditary cancer-predisposing syndrome Lynch syndrome 1 Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Breast carcinoma Carcinoma of colon Breast and/or ovarian cancer Condition: not provided MSH2-related disorder Hereditary nonpolyposis colorectal neoplasms	Criteria Provided Conflicting Classifications	CA021158	rs_63750124	25 SubmittersRCV000148628 RCV000212585 RCV000115532 RCV000662480 RCV000764421 RCV001262752 RCV001358588 RCV001798267 RCV000588226 RCV004528278 RCV001085983
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg)	SNV Germline	Chr2:47410211	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 1 Condition: not provided Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome	Reviewed By Expert Panel	CA021199	rs_63750624	11 SubmittersRCV000076608 RCV000491163 RCV000662882 RCV000985811 RCV001194033 RCV000524412 RCV004546430
NM_000251.3(MSH2):c.868G>T (p.Glu290Ter)	SNV Germline	Chr2:47414344	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Lynch syndrome 1	Reviewed By Expert Panel	CA022458	rs_587779190	6 SubmittersRCV000076740 RCV000165329 RCV001854340 RCV000763488 RCV003452971
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro)	SNV Germline	Chr2:47403288	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Condition: not provided Malignant tumor of breast Muir-Torré syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2 Lynch syndrome	Criteria Provided Conflicting Classifications	CA022692	rs_63751107	12 SubmittersRCV000129083 RCV000236043 RCV000662483 RCV000627734 RCV000656871 RCV001354855 RCV002483125 RCV003997185
NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp)	SNV Germline	Chr3:37025942	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA005039	rs_587779952	13 SubmittersRCV000115457 RCV000212536 RCV000412424 RCV000545514 RCV003997261 RCV002505032
NM_000249.4(MLH1):c.1558+5G>A	SNV Germline/somatic	Chr3:37028937	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms not specified Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA005861	rs_199935667	13 SubmittersRCV000115461 RCV000515436 RCV000590226 RCV000758646 RCV000663109 RCV001086042 RCV001175375 RCV003149796
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu)	SNV Germline	Chr3:37042330	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Condition: not provided Lynch syndrome	Criteria Provided Conflicting Classifications	CA006520	rs_56185292	15 SubmittersRCV000115465 RCV000121362 RCV000226023 RCV000411289 RCV000515241 RCV000656864 RCV003997263
NM_000251.3(MSH2):c.1238A>C (p.Gln413Pro)	SNV Germline	Chr2:47429903	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Lynch syndrome	Criteria Provided Conflicting Classifications	CA017617	rs_587779962	8 SubmittersRCV000115499 RCV000212601 RCV000515341 RCV000532709 RCV003467045 RCV003997269
NM_000251.3(MSH2):c.610G>A (p.Gly204Arg)	SNV Germline	Chr2:47410337	Conflicting classifications of pathogenicity	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 1 Lynch syndrome 1 Mismatch repair cancer syndrome 2 Muir-Torré syndrome Lynch syndrome	Criteria Provided Conflicting Classifications	CA021573	rs_63750574	9 SubmittersRCV000115537 RCV000196378 RCV000215932 RCV000411245 RCV002505033 RCV003997281
NM_000251.3(MSH2):c.220A>C (p.Asn74His)	SNV Germline	Chr2:47408409	Conflicting classifications of pathogenicity	not specified Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Mismatch repair cancer syndrome 2 Lynch syndrome Lynch syndrome Muir-Torré syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA020232	rs_150548839	12 SubmittersRCV000121566 RCV000409685 RCV000571485 RCV000230947 RCV000587188 RCV003483487 RCV003997350 RCV002477316
NM_000251.3(MSH2):c.166G>A (p.Glu56Lys)	SNV Germline	Chr2:47403357	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms not specified Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 1 Lynch syndrome Muir-Torré syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA018954	rs_587779102	9 SubmittersRCV000122982 RCV000235661 RCV000580136 RCV000657006 RCV003460870 RCV003997405 RCV002477321
NM_000249.4(MLH1):c.1154G>A (p.Arg385His)	SNV Germline/somatic	Chr3:37025752	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 not specified Lynch-like syndrome Lynch syndrome	Criteria Provided Conflicting Classifications	CA004510	rs_63750430	16 SubmittersRCV000128876 RCV000232561 RCV000409286 RCV000657135 RCV000764490 RCV000484459 RCV001249936 RCV003997466
NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys)	SNV Germline	Chr2:47475192	Conflicting classifications of pathogenicity	Ovarian cancer Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 not specified Lynch syndrome Mismatch repair cancer syndrome 2 Lynch syndrome MSH2-related disorder Lynch syndrome 1	Criteria Provided Conflicting Classifications	CA019583	rs_374840361	12 SubmittersRCV000148637 RCV000160596 RCV000204646 RCV000589876 RCV000765671 RCV002509245 RCV003483522 RCV003998170 RCV004532666 RCV004567167
NM_000251.3(MSH2):c.383T>G (p.Leu128Arg)	SNV Germline	Chr2:47410110	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 1 Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome not specified Lynch syndrome	Criteria Provided Conflicting Classifications	CA021103	rs_730881768	12 SubmittersRCV000197978 RCV000217291 RCV000590606 RCV000662843 RCV000515278 RCV003330516 RCV003998481
NM_000251.3(MSH2):c.566C>G (p.Ala189Gly)	SNV Germline	Chr2:47410293	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 1 not specified Lynch syndrome Mismatch repair cancer syndrome 2 Lynch syndrome Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA021433	rs_141021599	11 SubmittersRCV000233177 RCV000565216 RCV000590509 RCV000410808 RCV001251062 RCV003483528 RCV003998484 RCV002478486
NM_000249.4(MLH1):c.1039-3C>G	SNV Germline	Chr3:37025634	Conflicting classifications of pathogenicity	Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA004129	rs_730881737	5 SubmittersRCV000160524 RCV000764486 RCV001850268 RCV002390389
NM_000251.3(MSH2):c.403C>G (p.Leu135Val)	SNV Germline	Chr2:47410130	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome Mismatch repair cancer syndrome 1 Lynch syndrome 1 Muir-Torré syndrome not specified Lynch syndrome 1	Criteria Provided Conflicting Classifications	CA021133	rs_193096019	12 SubmittersRCV000166792 RCV000546078 RCV000997136 RCV001357296 RCV002053989 RCV002267920 RCV002291583
NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg)	SNV Germline	Chr3:37025715	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA004380	rs_766904735	12 SubmittersRCV000226857 RCV000166495 RCV000662540 RCV000764487 RCV000708919 RCV000484742 RCV001800500
NM_000249.4(MLH1):c.1572G>T (p.Met524Ile)	SNV Germline	Chr3:37040199	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome not specified	Criteria Provided Conflicting Classifications	CA005977	rs_587779953	9 SubmittersRCV000167029 RCV000521886 RCV000663082 RCV000459950 RCV000764494 RCV003995549 RCV003987389
NM_000251.3(MSH2):c.1254A>G (p.Ile418Met)	SNV Germline	Chr2:47429919	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Condition: not provided Lynch syndrome 1 not specified Lynch syndrome MSH2-related disorder	Criteria Provided Conflicting Classifications	CA027308	rs_751431238	10 SubmittersRCV000200127 RCV000564423 RCV000765666 RCV001589078 RCV003316110 RCV003155118 RCV003997012 RCV004528987
NM_000251.3(MSH2):c.2260A>G (p.Thr754Ala)	SNV Germline	Chr2:47478321	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 1 Mismatch repair cancer syndrome 2 Lynch syndrome 1 Muir-Torré syndrome Lynch syndrome	Criteria Provided Conflicting Classifications	CA035098	rs_757268664	9 SubmittersRCV000196465 RCV000560982 RCV000589091 RCV001140258 RCV002500622 RCV003997019
NM_000251.3(MSH2):c.508C>G (p.Gln170Glu)	SNV Germline	Chr2:47410235	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 2 Muir-Torré syndrome Lynch syndrome 1 not specified Condition: not provided Lynch syndrome 1 Lynch syndrome	Criteria Provided Conflicting Classifications	CA039073	rs_63750843	10 SubmittersRCV000214137 RCV000204442 RCV002485345 RCV003320603 RCV000759837 RCV003315420 RCV003997618
NM_000251.3(MSH2):c.1802A>G (p.Gln601Arg)	SNV Germline	Chr2:47475067	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA031443	rs_779447213	6 SubmittersRCV000205243 RCV000567614 RCV000765669 RCV002469065 RCV003477681
NM_000249.4(MLH1):c.650G>A (p.Arg217His)	SNV Germline	Chr3:37012072	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome Malignant tumor of breast Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA037481	rs_762099920	9 SubmittersRCV000206820 RCV000478892 RCV000566399 RCV001357243 RCV002494528 RCV003468950
NM_000251.3(MSH2):c.1480T>C (p.Ser494Pro)	SNV Germline	Chr2:47463124	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Mismatch repair cancer syndrome 2 Muir-Torré syndrome Lynch syndrome 1 Lynch syndrome 1 Lynch syndrome	Criteria Provided Conflicting Classifications	CA028810	rs_55653533	8 SubmittersRCV000219106 RCV000475338 RCV001589154 RCV002485427 RCV003462508 RCV003998020
NM_000251.3(MSH2):c.1825G>T (p.Ala609Ser)	SNV Germline	Chr2:47475090	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Condition: not provided Lynch syndrome MSH2-related disorder	Criteria Provided Conflicting Classifications	CA031583	rs_150980616	7 SubmittersRCV000223424 RCV000477055 RCV000765670 RCV001550360 RCV003997795 RCV004532776
NM_000251.3(MSH2):c.2260A>T (p.Thr754Ser)	SNV Germline	Chr2:47478321	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms not specified Condition: not provided Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1 Lynch syndrome Lynch syndrome 1	Criteria Provided Conflicting Classifications	CA035112	rs_757268664	9 SubmittersRCV000221755 RCV000464199 RCV000780438 RCV001843496 RCV002485413 RCV003997767 RCV004020644
NM_000251.3(MSH2):c.1354G>A (p.Glu452Lys)	SNV Germline	Chr2:47445625	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome Muir-Torré syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA46660139	rs_267607954	6 SubmittersRCV000556329 RCV000567928 RCV003478112 RCV004003731 RCV002476086
NM_000251.3(MSH2):c.1892G>A (p.Arg631Lys)	SNV Germline	Chr2:47475157	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Muir-Torré syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2 Lynch syndrome Lynch syndrome 1	Criteria Provided Conflicting Classifications	CA346728562	rs_1361816581	8 SubmittersRCV000568306 RCV000547904 RCV001572130 RCV002481753 RCV004003740 RCV004568718
NM_000251.3(MSH2):c.464T>C (p.Val155Ala)	SNV Germline	Chr2:47410191	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 1 Condition: not provided Lynch syndrome 1 Lynch syndrome	Criteria Provided Conflicting Classifications	CA346730530	rs_876658188	7 SubmittersRCV000566316 RCV000808811 RCV000764422 RCV001551071 RCV003459360 RCV004001041
NM_000251.3(MSH2):c.1661G>A (p.Ser554Asn)	SNV Germline	Chr2:47466808	Pathogenic/Likely pathogenic	Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Hereditary cancer-predisposing syndrome Muir-Torré syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA030195	rs_63750597	5 SubmittersRCV000802215 RCV001310202 RCV000570315 RCV002497211
NM_000251.3(MSH2):c.992A>G (p.Asn331Ser)	SNV Germline	Chr2:47416345	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2 not specified	Criteria Provided Conflicting Classifications	CA042047	rs_779673318	6 SubmittersRCV000629913 RCV000708829 RCV000572560 RCV002483525 RCV003320694
NM_000251.3(MSH2):c.1454T>C (p.Met485Thr)	SNV Germline	Chr2:47463098	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1 Lynch syndrome	Criteria Provided Conflicting Classifications	CA346726967	rs_1553365763	4 SubmittersRCV000573636 RCV001043758 RCV002497215 RCV004001118
NM_000249.4(MLH1):c.1051G>A (p.Gly351Arg)	SNV Germline	Chr3:37025649	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome	Criteria Provided Conflicting Classifications	CA352052043	rs_1437454428	7 SubmittersRCV000629849 RCV000985774 RCV001017137 RCV002492942 RCV003459491 RCV004002777
NM_000251.3(MSH2):c.1754C>T (p.Ser585Phe)	SNV Germline	Chr2:47471057	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1280971849	3 SubmittersRCV000699372 RCV001292968 RCV002406613
NM_000249.4(MLH1):c.885-1G>A	SNV Germline	Chr3:37020309	Pathogenic/Likely pathogenic	Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1553647894	3 SubmittersRCV000703589 RCV000763101 RCV002442522
NM_000249.4(MLH1):c.2070C>G (p.Tyr690Ter)	SNV Germline	Chr3:37048984	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_550890395	5 SubmittersRCV001014284 RCV000796222 RCV001269507 RCV003453648 RCV002507374
NM_000251.3(MSH2):c.2065G>A (p.Ala689Thr)	SNV Germline	Chr2:47476426	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2 Lynch syndrome 1	Criteria Provided Conflicting Classifications		rs_914610419	4 SubmittersRCV001014220 RCV001061882 RCV002481821 RCV004569928
NM_000251.3(MSH2):c.1688A>G (p.Tyr563Cys)	SNV Germline	Chr2:47470991	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2 Muir-Torré syndrome Lynch syndrome Lynch syndrome 1	Criteria Provided Conflicting Classifications		rs_63751054	6 SubmittersRCV001062181 RCV001183388 RCV002479368 RCV004000124 RCV004570256
NM_000249.4(MLH1):c.589-1G>A	SNV Germline	Chr3:37012010	Pathogenic/Likely pathogenic	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Multiple Submitters No Conflicts		rs_587779027	5 SubmittersRCV001210948 RCV002356902 RCV002497722 RCV003449664
NM_000249.4(MLH1):c.553G>A (p.Val185Ile)	SNV Germline	Chr3:37011827	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_63750012	3 SubmittersRCV001347505 RCV002493790 RCV003169700
NM_000249.4(MLH1):c.157G>T (p.Glu53Ter)	SNV Unknown	Chr3:36996659	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome	Criteria Provided Single Submitter			1 SubmittersRCV001799562
NM_000251.3(MSH2):c.2619C>A (p.Cys873Ter)	SNV Germline/somatic	Chr2:47480856	Pathogenic/Likely pathogenic	Muir-Torré syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV001809176 RCV002440888
NM_000251.3(MSH2):c.1757C>A (p.Ser586Ter)	SNV Germline	Chr2:47471060	Pathogenic	Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome Lynch syndrome 1 Lynch syndrome 1	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV003112120 RCV003330111 RCV003455763

NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)

SNV
Germline

Chr2:47429881

Pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Gastric cancer

Reviewed By Expert Panel

CA017519

rs_63751108

25 SubmittersRCV000001825 RCV000162489 RCV000202291 RCV000030238 RCV000524334 RCV000677885 RCV000763491 RCV003162204

NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter)

SNV
Germline

Chr2:47475066

Pathogenic

Muir-Torré syndrome
Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA019344

rs_63750047

8 SubmittersRCV000001828 RCV000076290 RCV000428558 RCV000491732 RCV000809096 RCV003450612

NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)

SNV
Germline

Chr2:47475171

Pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon

Reviewed By Expert Panel

CA019533

rs_63750875

21 SubmittersRCV000030245 RCV000376757 RCV000130428 RCV000202220 RCV000763493 RCV000524366 RCV001353396

NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)

SNV
Germline/somatic

Chr3:37012098

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome 1
Lynch-like syndrome
Mismatch repair cancer syndrome 1
Condition: not provided
Breast and/or ovarian cancer
Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome

Reviewed By Expert Panel

CA011496

rs_63751615

23 SubmittersRCV000075801 RCV000115485 RCV000018616 RCV001093685 RCV001249951 RCV001267883 RCV000202205 RCV003149572 RCV000524311 RCV003137535

NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)

SNV
Germline

Chr3:37048955

Pathogenic

not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Muir-Torré syndrome
Muir-Torré syndrome
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008304

rs_63750217

24 SubmittersRCV000202172 RCV000018632 RCV000519240 RCV000213700 RCV000075495 RCV000524270 RCV001328323 RCV002288511 RCV000763105

NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)

SNV
Germline/somatic

Chr3:37025979

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch-like syndrome

Reviewed By Expert Panel

CA005183

rs_63750540

17 SubmittersRCV000030213 RCV000202201 RCV000132422 RCV000659871 RCV000763102 RCV000524235 RCV001804748 RCV001249929

NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)

SNV
Germline

Chr3:37025764

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
MLH1-related disorder
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA004569

rs_63750361

19 SubmittersRCV000034538 RCV000132154 RCV000221418 RCV000412195 RCV000764491 RCV003914904 RCV001086754

NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser)

SNV
Germline

Chr2:47471051

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, non-polyposis
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA019161

rs_201118107

16 SubmittersRCV000034553 RCV000076263 RCV000115510 RCV000148636 RCV000765667 RCV001079601 RCV002265576 RCV001354468 RCV003492329

NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)

SNV
Germline

Chr2:47475052

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Colorectal cancer, non-polyposis
not specified
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA019304

rs_41295288

23 SubmittersRCV000034554 RCV000115511 RCV000076286 RCV000148641 RCV000200985 RCV000659882 RCV000765668 RCV001081309 RCV003149607

NM_000249.4(MLH1):c.218T>G (p.Leu73Arg)

SNV
Germline

Chr3:37000965

Pathogenic/Likely pathogenic

Mismatch repair cancer syndrome 1
Hereditary cancer-predisposing syndrome
Muir-Torré syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA009060

rs_397514684

5 SubmittersRCV000035016 RCV000213759 RCV003137557 RCV003153327 RCV003335062

NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)

SNV
Germline

Chr3:37020438

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal cancer, non-polyposis
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Lynch syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA004051

rs_63751467

18 SubmittersRCV000128912 RCV000148621 RCV000220791 RCV000524219 RCV000656860 RCV001356843 RCV003483462 RCV003997106 RCV000764485 RCV000987162

NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)

SNV
Germline

Chr3:37025751

Conflicting classifications of pathogenicity

Lynch syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary cancer
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA004503

rs_63750760

14 SubmittersRCV000075124 RCV000202088 RCV000524225 RCV000490290 RCV000656862 RCV001030628 RCV000217569 RCV003149731 RCV003492407 RCV000764489

NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)

SNV
Germline

Chr3:37025958

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
not specified
Breast and/or ovarian cancer
Hereditary nonpolyposis colon cancer
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA005085

rs_63750527

18 SubmittersRCV000115458 RCV000410484 RCV000587838 RCV000200984 RCV003149732 RCV003148646 RCV000764492 RCV001080105

NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)

SNV
Germline/somatic

Chr3:37028833

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome 1
Lynch-like syndrome
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA005475

rs_63749795

22 SubmittersRCV000075218 RCV000255034 RCV000128870 RCV000524240 RCV000763103 RCV001093677 RCV001249944 RCV001353584 RCV000662808

NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg)

SNV
Germline

Chr3:37028861

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA005534

rs_63750226

12 SubmittersRCV000221321 RCV000409591 RCV000483364 RCV000627722 RCV000764493 RCV002228178 RCV003997114

NM_000249.4(MLH1):c.1559-1G>C

SNV
Germline

Chr3:37040185

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Muir-Torré syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA005891

rs_267607837

7 SubmittersRCV000075254 RCV000539690 RCV001091800 RCV003448260 RCV001012154 RCV003455989

NM_000249.4(MLH1):c.1731G>A (p.Ser577=)

SNV
Germline

Chr3:37042331

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colon cancer
Colon cancer
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer

Reviewed By Expert Panel

CA006585

rs_63751657

18 SubmittersRCV000075331 RCV000202231 RCV000132025 RCV000662481 RCV001553748 RCV001580146 RCV001804815 RCV002483122 RCV000524246 RCV003492410

NM_000249.4(MLH1):c.1897-2A>G

SNV
Germline

Chr3:37048515

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA007469

rs_267607871

12 SubmittersRCV000075411 RCV000524638 RCV000662785 RCV000487325 RCV000570210 RCV001844029 RCV000763104

NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)

SNV
Germline

Chr3:36996693

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Aqueductal stenosis
Choreoathetosis
Global developmental delay
Lynch syndrome
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA007619

rs_63750952

15 SubmittersRCV000075426 RCV000217492 RCV000513562 RCV000490571 RCV000584818 RCV000708912 RCV001262297 RCV002288569

NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu)

SNV
Germline

Chr3:37048563

Likely pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA007716

rs_63750610

8 SubmittersRCV000075433 RCV000221413 RCV000477957 RCV001269952 RCV003997119 RCV000812087

NM_000249.4(MLH1):c.2042C>T (p.Ala681Val)

SNV
Germline

Chr3:37048956

Conflicting classifications of pathogenicity

Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA008313

rs_63750864

4 SubmittersRCV000213632 RCV000764497 RCV000698693 RCV002415533

NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)

SNV
Germline

Chr3:37048973

Pathogenic

Lynch syndrome
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
MLH1-related disorder
Carcinoma of colon

Reviewed By Expert Panel

CA008336

rs_63751275

22 SubmittersRCV000075499 RCV000481137 RCV000763106 RCV001093679 RCV000215428 RCV000411954 RCV000524272 RCV003915039 RCV001356525

NM_000249.4(MLH1):c.208-3C>G

SNV
Germline/somatic

Chr3:37000952

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008526

rs_267607720

8 SubmittersRCV000075517 RCV000524274 RCV000160554 RCV000562969 RCV000763098 RCV003451102

NM_000249.4(MLH1):c.2153A>C (p.His718Pro)

SNV
Germline

Chr3:37050535

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome

Reviewed By Expert Panel

CA008900

rs_587778983

3 SubmittersRCV000075557 RCV000694232 RCV002247469

NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys)

SNV
Germline

Chr3:37050544

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
not specified
MLH1-related disorder
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008958

rs_587778986

13 SubmittersRCV000160544 RCV000212548 RCV000409675 RCV000524278 RCV000781540 RCV003390768 RCV002483123 RCV003997125

NM_000249.4(MLH1):c.2174G>A (p.Arg725His)

SNV
Germline

Chr3:37050556

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA009007

rs_566928243

16 SubmittersRCV000075568 RCV000115473 RCV000212549 RCV000586779 RCV000764498 RCV001147135 RCV001079417

NM_000249.4(MLH1):c.306+5G>A

SNV
Germline

Chr3:37001058

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA009684

rs_267607735

9 SubmittersRCV000022504 RCV000075634 RCV000202186 RCV000763099 RCV001018363 RCV001045822 RCV001804820

NM_000249.4(MLH1):c.347C>A (p.Thr116Lys)

SNV
Germline

Chr3:37004441

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA009850

rs_63750465

10 SubmittersRCV000115481 RCV000235173 RCV000410226 RCV000524292 RCV000780414 RCV003997128 RCV000764481

NM_000249.4(MLH1):c.588+5G>A

SNV
Germline

Chr3:37011867

Pathogenic

Lynch syndrome
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA011130

rs_267607768

10 SubmittersRCV000075774 RCV000213543 RCV000763100 RCV000572458 RCV000627715 RCV001255542 RCV003452753

NM_000249.4(MLH1):c.589-1G>T

SNV
Germline

Chr3:37012010

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA011182

rs_587779027

6 SubmittersRCV000075779 RCV001070764 RCV003452754 RCV002258789 RCV002483124

NM_000249.4(MLH1):c.791-1G>C

SNV
Germline

Chr3:37017505

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA012277

rs_267607795

7 SubmittersRCV000075860 RCV001183311 RCV001388082 RCV002247470 RCV001723644 RCV003452771

NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)

SNV
Germline

Chr3:37020380

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Malignant tumor of breast
MLH1-related disorder
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA013293

rs_63750796

21 SubmittersRCV000075945 RCV000115489 RCV000144597 RCV000212528 RCV000410221 RCV000656859 RCV000524325 RCV000764484 RCV001357697 RCV003915040 RCV003492419

NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)

SNV
Germline/somatic

Chr2:47416398

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1
Condition: not provided
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
not specified

Criteria Provided
Conflicting Classifications

CA016975

rs_267607939

15 SubmittersRCV000128932 RCV000148635 RCV000588936 RCV000764423 RCV000986664 RCV001085377 RCV002279934 RCV001844030

NM_000251.3(MSH2):c.1076+1G>A

SNV
Germline

Chr2:47416430

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Lynch syndrome 1

Reviewed By Expert Panel

CA017072

rs_267607940

9 SubmittersRCV000076014 RCV000485147 RCV000132414 RCV000541273 RCV000763489 RCV003452798

NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)

SNV
Germline/somatic

Chr2:47429812

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch-like syndrome
Rhabdomyosarcoma
MSH2-related disorder
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome

Reviewed By Expert Panel

CA017356

rs_63749849

22 SubmittersRCV000076049 RCV000202261 RCV000221364 RCV000576748 RCV000524330 RCV001192613 RCV001249954 RCV001257542 RCV004537287 RCV000763490

NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)

SNV
Germline

Chr2:47429882

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Breast and/or ovarian cancer
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA017527

rs_146567853

14 SubmittersRCV000212599 RCV000132166 RCV000411777 RCV000781558 RCV000765665 RCV001798264 RCV001083003 RCV001356152

NM_000251.3(MSH2):c.1276+1G>T

SNV
Germline

Chr2:47429942

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA017756

rs_267607950

6 SubmittersRCV000076088 RCV000491760 RCV000707663 RCV002498365 RCV003237437 RCV003452816

NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)

SNV
Germline

Chr2:47403319

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome
Lynch syndrome
MSH2-related disorder
Condition: not provided
Sarcoma

Criteria Provided
Conflicting Classifications

CA017905

rs_17217723

15 SubmittersRCV000131211 RCV000212578 RCV000409784 RCV000764419 RCV000524339 RCV003330424 RCV004537289 RCV000656872 RCV001262887

NM_000251.3(MSH2):c.1661+1G>T

SNV
Germline/somatic

Chr2:47466809

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Reviewed By Expert Panel

CA018841

rs_267607969

7 SubmittersRCV000076217 RCV000491252 RCV001070711 RCV000986676 RCV002498366

NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter)

SNV
Germline/somatic

Chr2:47475126

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Lynch-like syndrome
Hereditary nonpolyposis colon cancer
Breast carcinoma

Reviewed By Expert Panel

CA019461

rs_63750508

18 SubmittersRCV000076305 RCV000414448 RCV000524364 RCV000491286 RCV000602838 RCV000763492 RCV001249915 RCV001328039 RCV001650893

NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu)

SNV
Germline

Chr2:47476370

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019790

rs_41294982

8 SubmittersRCV000220086 RCV000524371 RCV000765672 RCV000483333 RCV003389040 RCV002265597 RCV003997156

NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)

SNV
Germline/somatic

Chr2:47476492

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
not specified
Lynch-like syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA020107

rs_63750636

25 SubmittersRCV000076405 RCV000129341 RCV000202062 RCV000524377 RCV000763494 RCV001000186 RCV001249926 RCV002272055

NM_000251.3(MSH2):c.2516A>G (p.His839Arg)

SNV
Germline

Chr2:47480753

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA020662

rs_63750027

10 SubmittersRCV000076492 RCV000166332 RCV000486446 RCV000765673 RCV000986690 RCV001085048 RCV001354097 RCV003153356 RCV004525868

NM_000251.3(MSH2):c.435T>G (p.Ile145Met)

SNV
Germline

Chr2:47410162

Conflicting classifications of pathogenicity

Colorectal cancer, non-polyposis
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Breast carcinoma
Carcinoma of colon
Breast and/or ovarian cancer
Condition: not provided
MSH2-related disorder
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA021158

rs_63750124

25 SubmittersRCV000148628 RCV000212585 RCV000115532 RCV000662480 RCV000764421 RCV001262752 RCV001358588 RCV001798267 RCV000588226 RCV004528278 RCV001085983

NM_000251.3(MSH2):c.484G>A (p.Gly162Arg)

SNV
Germline

Chr2:47410211

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome

Reviewed By Expert Panel

CA021199

rs_63750624

11 SubmittersRCV000076608 RCV000491163 RCV000662882 RCV000985811 RCV001194033 RCV000524412 RCV004546430

NM_000251.3(MSH2):c.868G>T (p.Glu290Ter)

SNV
Germline

Chr2:47414344

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Lynch syndrome 1

Reviewed By Expert Panel

CA022458

rs_587779190

6 SubmittersRCV000076740 RCV000165329 RCV001854340 RCV000763488 RCV003452971

NM_000251.3(MSH2):c.97A>C (p.Thr33Pro)

SNV
Germline

Chr2:47403288

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Malignant tumor of breast
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022692

rs_63751107

12 SubmittersRCV000129083 RCV000236043 RCV000662483 RCV000627734 RCV000656871 RCV001354855 RCV002483125 RCV003997185

NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp)

SNV
Germline

Chr3:37025942

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA005039

rs_587779952

13 SubmittersRCV000115457 RCV000212536 RCV000412424 RCV000545514 RCV003997261 RCV002505032

NM_000249.4(MLH1):c.1558+5G>A

SNV
Germline/somatic

Chr3:37028937

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
not specified
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA005861

rs_199935667

13 SubmittersRCV000115461 RCV000515436 RCV000590226 RCV000758646 RCV000663109 RCV001086042 RCV001175375 RCV003149796

NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu)

SNV
Germline

Chr3:37042330

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA006520

rs_56185292

15 SubmittersRCV000115465 RCV000121362 RCV000226023 RCV000411289 RCV000515241 RCV000656864 RCV003997263

NM_000251.3(MSH2):c.1238A>C (p.Gln413Pro)

SNV
Germline

Chr2:47429903

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017617

rs_587779962

8 SubmittersRCV000115499 RCV000212601 RCV000515341 RCV000532709 RCV003467045 RCV003997269

NM_000251.3(MSH2):c.610G>A (p.Gly204Arg)

SNV
Germline

Chr2:47410337

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021573

rs_63750574

9 SubmittersRCV000115537 RCV000196378 RCV000215932 RCV000411245 RCV002505033 RCV003997281

NM_000251.3(MSH2):c.220A>C (p.Asn74His)

SNV
Germline

Chr2:47408409

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 2
Lynch syndrome
Lynch syndrome
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA020232

rs_150548839

12 SubmittersRCV000121566 RCV000409685 RCV000571485 RCV000230947 RCV000587188 RCV003483487 RCV003997350 RCV002477316

NM_000251.3(MSH2):c.166G>A (p.Glu56Lys)

SNV
Germline

Chr2:47403357

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA018954

rs_587779102

9 SubmittersRCV000122982 RCV000235661 RCV000580136 RCV000657006 RCV003460870 RCV003997405 RCV002477321

NM_000249.4(MLH1):c.1154G>A (p.Arg385His)

SNV
Germline/somatic

Chr3:37025752

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Lynch-like syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA004510

rs_63750430

16 SubmittersRCV000128876 RCV000232561 RCV000409286 RCV000657135 RCV000764490 RCV000484459 RCV001249936 RCV003997466

NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys)

SNV
Germline

Chr2:47475192

Conflicting classifications of pathogenicity

Ovarian cancer
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
not specified
Lynch syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome
MSH2-related disorder
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019583

rs_374840361

12 SubmittersRCV000148637 RCV000160596 RCV000204646 RCV000589876 RCV000765671 RCV002509245 RCV003483522 RCV003998170 RCV004532666 RCV004567167

NM_000251.3(MSH2):c.383T>G (p.Leu128Arg)

SNV
Germline

Chr2:47410110

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021103

rs_730881768

12 SubmittersRCV000197978 RCV000217291 RCV000590606 RCV000662843 RCV000515278 RCV003330516 RCV003998481

NM_000251.3(MSH2):c.566C>G (p.Ala189Gly)

SNV
Germline

Chr2:47410293

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
not specified
Lynch syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA021433

rs_141021599

11 SubmittersRCV000233177 RCV000565216 RCV000590509 RCV000410808 RCV001251062 RCV003483528 RCV003998484 RCV002478486

NM_000249.4(MLH1):c.1039-3C>G

SNV
Germline

Chr3:37025634

Conflicting classifications of pathogenicity

Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA004129

rs_730881737

5 SubmittersRCV000160524 RCV000764486 RCV001850268 RCV002390389

NM_000251.3(MSH2):c.403C>G (p.Leu135Val)

SNV
Germline

Chr2:47410130

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Mismatch repair cancer syndrome 1
Lynch syndrome 1
Muir-Torré syndrome
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021133

rs_193096019

12 SubmittersRCV000166792 RCV000546078 RCV000997136 RCV001357296 RCV002053989 RCV002267920 RCV002291583

NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg)

SNV
Germline

Chr3:37025715

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA004380

rs_766904735

12 SubmittersRCV000226857 RCV000166495 RCV000662540 RCV000764487 RCV000708919 RCV000484742 RCV001800500

NM_000249.4(MLH1):c.1572G>T (p.Met524Ile)

SNV
Germline

Chr3:37040199

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA005977

rs_587779953

9 SubmittersRCV000167029 RCV000521886 RCV000663082 RCV000459950 RCV000764494 RCV003995549 RCV003987389

NM_000251.3(MSH2):c.1254A>G (p.Ile418Met)

SNV
Germline

Chr2:47429919

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome 1
not specified
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA027308

rs_751431238

10 SubmittersRCV000200127 RCV000564423 RCV000765666 RCV001589078 RCV003316110 RCV003155118 RCV003997012 RCV004528987

NM_000251.3(MSH2):c.2260A>G (p.Thr754Ala)

SNV
Germline

Chr2:47478321

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA035098

rs_757268664

9 SubmittersRCV000196465 RCV000560982 RCV000589091 RCV001140258 RCV002500622 RCV003997019

NM_000251.3(MSH2):c.508C>G (p.Gln170Glu)

SNV
Germline

Chr2:47410235

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome 1
not specified
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA039073

rs_63750843

10 SubmittersRCV000214137 RCV000204442 RCV002485345 RCV003320603 RCV000759837 RCV003315420 RCV003997618

NM_000251.3(MSH2):c.1802A>G (p.Gln601Arg)

SNV
Germline

Chr2:47475067

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA031443

rs_779447213

6 SubmittersRCV000205243 RCV000567614 RCV000765669 RCV002469065 RCV003477681

NM_000249.4(MLH1):c.650G>A (p.Arg217His)

SNV
Germline

Chr3:37012072

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA037481

rs_762099920

9 SubmittersRCV000206820 RCV000478892 RCV000566399 RCV001357243 RCV002494528 RCV003468950

NM_000251.3(MSH2):c.1480T>C (p.Ser494Pro)

SNV
Germline

Chr2:47463124

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome 1
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA028810

rs_55653533

8 SubmittersRCV000219106 RCV000475338 RCV001589154 RCV002485427 RCV003462508 RCV003998020

NM_000251.3(MSH2):c.1825G>T (p.Ala609Ser)

SNV
Germline

Chr2:47475090

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA031583

rs_150980616

7 SubmittersRCV000223424 RCV000477055 RCV000765670 RCV001550360 RCV003997795 RCV004532776

NM_000251.3(MSH2):c.2260A>T (p.Thr754Ser)

SNV
Germline

Chr2:47478321

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA035112

rs_757268664

9 SubmittersRCV000221755 RCV000464199 RCV000780438 RCV001843496 RCV002485413 RCV003997767 RCV004020644

NM_000251.3(MSH2):c.1354G>A (p.Glu452Lys)

SNV
Germline

Chr2:47445625

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA46660139

rs_267607954

6 SubmittersRCV000556329 RCV000567928 RCV003478112 RCV004003731 RCV002476086

NM_000251.3(MSH2):c.1892G>A (p.Arg631Lys)

SNV
Germline

Chr2:47475157

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728562

rs_1361816581

8 SubmittersRCV000568306 RCV000547904 RCV001572130 RCV002481753 RCV004003740 RCV004568718

NM_000251.3(MSH2):c.464T>C (p.Val155Ala)

SNV
Germline

Chr2:47410191

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 1
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730530

rs_876658188

7 SubmittersRCV000566316 RCV000808811 RCV000764422 RCV001551071 RCV003459360 RCV004001041

NM_000251.3(MSH2):c.1661G>A (p.Ser554Asn)

SNV
Germline

Chr2:47466808

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA030195

rs_63750597

5 SubmittersRCV000802215 RCV001310202 RCV000570315 RCV002497211

NM_000251.3(MSH2):c.992A>G (p.Asn331Ser)

SNV
Germline

Chr2:47416345

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
not specified

Criteria Provided
Conflicting Classifications

CA042047

rs_779673318

6 SubmittersRCV000629913 RCV000708829 RCV000572560 RCV002483525 RCV003320694

NM_000251.3(MSH2):c.1454T>C (p.Met485Thr)

SNV
Germline

Chr2:47463098

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346726967

rs_1553365763

4 SubmittersRCV000573636 RCV001043758 RCV002497215 RCV004001118

NM_000249.4(MLH1):c.1051G>A (p.Gly351Arg)

SNV
Germline

Chr3:37025649

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA352052043

rs_1437454428

7 SubmittersRCV000629849 RCV000985774 RCV001017137 RCV002492942 RCV003459491 RCV004002777

NM_000251.3(MSH2):c.1754C>T (p.Ser585Phe)

SNV
Germline

Chr2:47471057

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1280971849

3 SubmittersRCV000699372 RCV001292968 RCV002406613

NM_000249.4(MLH1):c.885-1G>A

SNV
Germline

Chr3:37020309

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553647894

3 SubmittersRCV000703589 RCV000763101 RCV002442522

NM_000249.4(MLH1):c.2070C>G (p.Tyr690Ter)

SNV
Germline

Chr3:37048984

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_550890395

5 SubmittersRCV001014284 RCV000796222 RCV001269507 RCV003453648 RCV002507374

NM_000251.3(MSH2):c.2065G>A (p.Ala689Thr)

SNV
Germline

Chr2:47476426

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_914610419

4 SubmittersRCV001014220 RCV001061882 RCV002481821 RCV004569928

NM_000251.3(MSH2):c.1688A>G (p.Tyr563Cys)

SNV
Germline

Chr2:47470991

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_63751054

6 SubmittersRCV001062181 RCV001183388 RCV002479368 RCV004000124 RCV004570256

NM_000249.4(MLH1):c.589-1G>A

SNV
Germline

Chr3:37012010

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_587779027

5 SubmittersRCV001210948 RCV002356902 RCV002497722 RCV003449664

NM_000249.4(MLH1):c.553G>A (p.Val185Ile)

SNV
Germline

Chr3:37011827

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_63750012

3 SubmittersRCV001347505 RCV002493790 RCV003169700

NM_000249.4(MLH1):c.157G>T (p.Glu53Ter)

SNV
Unknown

Chr3:36996659

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV001799562

NM_000251.3(MSH2):c.2619C>A (p.Cys873Ter)

SNV
Germline/somatic