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 Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Carcinoma of colon Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 1 Gastric cancer	Reviewed By Expert Panel	CA017519	rs_63751108	26 SubmittersRCV000001825 RCV000030238 RCV000524334 RCV000162489 RCV000202291 RCV000677885 RCV000763491 RCV003162204
NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter)	SNV Germline	Chr2:47475066	Pathogenic	Muir-Torré syndrome Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 1	Reviewed By Expert Panel	CA019344	rs_63750047	10 SubmittersRCV000001828 RCV000076290 RCV000491732 RCV000809096 RCV000428558 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 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon	Reviewed By Expert Panel	CA019533	rs_63750875	22 SubmittersRCV000030245 RCV000376757 RCV000130428 RCV000202220 RCV000763493 RCV000524366 RCV001353396
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)	SNV Germline/somatic	Chr3:37012098	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Lynch-like syndrome Mismatch repair cancer syndrome 1 Breast and/or ovarian cancer Muir-Torré syndrome	Reviewed By Expert Panel	CA011496	rs_63751615	24 SubmittersRCV000018616 RCV000075801 RCV000115485 RCV000202205 RCV000524311 RCV001093685 RCV001249951 RCV001267883 RCV003149572 RCV003137535
NM_000249.4(MLH1):c.350C>T (p.Thr117Met)	SNV Germline/somatic	Chr3:37004444	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 1 Condition: not provided Lynch-like syndrome Endometrial carcinoma Colon cancer Inherited MMR deficiency (Lynch syndrome) Muir-Torré syndrome Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA009872	rs_63750781	30 SubmittersRCV000018626 RCV000075666 RCV000524293 RCV000570680 RCV000144599 RCV000160518 RCV001249927 RCV001353627 RCV003229801 RCV004584176 RCV004795924
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)	SNV Germline	Chr3:37048955	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome not specified Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colon cancer Muir-Torré syndrome Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA008304	rs_63750217	26 SubmittersRCV000018632 RCV000075495 RCV000202172 RCV000213700 RCV000524270 RCV000519240 RCV000763105 RCV001328323 RCV002288511 RCV005251042
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)	SNV Germline	Chr3:37017508	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA012394	rs_63751194	25 SubmittersRCV000022502 RCV000034802 RCV000075872 RCV000220712 RCV000524317 RCV000677879 RCV001093673 RCV005025076
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)	SNV Germline/somatic	Chr3:37025979	Pathogenic	Hereditary cancer-predisposing syndrome Lynch syndrome 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 Lynch-like syndrome Lynch syndrome 1	Reviewed By Expert Panel	CA005183	rs_63750540	18 SubmittersRCV000132422 RCV000030213 RCV000202201 RCV000659871 RCV000763102 RCV000524235 RCV001249929 RCV001804748
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu)	SNV Germline	Chr3:37050595	Conflicting classifications of pathogenicity	Lynch syndrome not specified Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA009110	rs_148317871	14 SubmittersRCV000030221 RCV000160545 RCV000411992 RCV000524281 RCV000573289 RCV000767194 RCV005357160
NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter)	SNV Germline	Chr2:47416383	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2 Lynch syndrome 1	Reviewed By Expert Panel	CA016912	rs_63750245	8 SubmittersRCV000030234 RCV000759091 RCV001009753 RCV001224622 RCV005394174 RCV003450651
NM_000251.3(MSH2):c.421A>G (p.Met141Val)	SNV Germline	Chr2:47410148	Conflicting classifications of pathogenicity	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA021148	rs_193922374	8 SubmittersRCV000030254 RCV000212584 RCV000115531 RCV001079015 RCV005420519 RCV005357161
NM_000251.3(MSH2):c.942+3A>T	SNV Germline/somatic	Chr2:47414421	Pathogenic	Lynch syndrome 1 Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch-like syndrome Carcinoma of colon Hereditary nonpolyposis colon cancer Breast carcinoma Mismatch repair cancer syndrome 2 Lynch syndrome 1 Muir-Torré syndrome MSH2-related disorder	Reviewed By Expert Panel	CA022585	rs_193922376	33 SubmittersRCV000001844 RCV000030256 RCV000115549 RCV000201997 RCV000524424 RCV001249912 RCV001353565 RCV001731319 RCV001579303 RCV005025083 RCV004734535
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)	SNV Germline	Chr3:37025764	Conflicting classifications of pathogenicity	not specified 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 Hereditary nonpolyposis colorectal neoplasms MLH1-related disorder	Criteria Provided Conflicting Classifications	CA004569	rs_63750361	19 SubmittersRCV000221418 RCV000034538 RCV000132154 RCV000412195 RCV000764491 RCV001086754 RCV003914904
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser)	SNV Germline	Chr2:47471051	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, non-polyposis Lynch syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms not specified Malignant tumor of breast Lynch syndrome 1 Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA019161	rs_201118107	18 SubmittersRCV000034553 RCV000115510 RCV000148636 RCV000076263 RCV000765667 RCV001079601 RCV002265576 RCV001354468 RCV005246597 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 Colorectal cancer, non-polyposis Lynch syndrome not specified Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Breast and/or ovarian cancer Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1	Criteria Provided Conflicting Classifications	CA019304	rs_41295288	24 SubmittersRCV000034554 RCV000115511 RCV000148641 RCV000076286 RCV000200985 RCV000659882 RCV001081309 RCV003149607 RCV000765668
NM_000251.3(MSH2):c.1837A>C (p.Asn613His)	SNV Germline	Chr2:47475102	Conflicting classifications of pathogenicity	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome Muir-Torré syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA019422	rs_200147804	6 SubmittersRCV000034555 RCV000705544 RCV000771463 RCV004806020 RCV005394197
NM_000249.4(MLH1):c.218T>G (p.Leu73Arg)	SNV Germline	Chr3:37000965	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Criteria Provided Multiple Submitters No Conflicts	CA009060	rs_397514684	5 SubmittersRCV000213759 RCV000035016 RCV003137557 RCV003335062 RCV003153327
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)	SNV Germline	Chr3:37020438	Conflicting classifications of pathogenicity	Colorectal cancer, non-polyposis Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided not specified Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary cancer Malignant tumor of breast Lynch syndrome Hereditary breast ovarian cancer syndrome MLH1-related disorder Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA004051	rs_63751467	20 SubmittersRCV000148621 RCV000128912 RCV000524219 RCV000656860 RCV000220791 RCV000764485 RCV004700374 RCV001356843 RCV003997106 RCV003483462 RCV004748551 RCV005246613
NM_000249.4(MLH1):c.1038+1G>C	SNV Germline/somatic	Chr3:37020464	Likely pathogenic	Lynch syndrome Lynch-like syndrome Lynch syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA004088	rs_267607816	6 SubmittersRCV000075082 RCV001249908 RCV001093692 RCV003450998 RCV005357454 RCV002514334
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)	SNV Germline	Chr3:37025751	Conflicting classifications of pathogenicity	Lynch syndrome not specified Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary breast ovarian cancer syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Breast and/or ovarian cancer Hereditary cancer Childhood neoplasm	Criteria Provided Conflicting Classifications	CA004503	rs_63750760	16 SubmittersRCV000075124 RCV000202088 RCV000217569 RCV000524225 RCV000490290 RCV001030628 RCV000656862 RCV000764489 RCV003149731 RCV003492407 RCV005621869
NM_000249.4(MLH1):c.1171C>T (p.Gln391Ter)	SNV Germline	Chr3:37025769	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004606	rs_587778894	5 SubmittersRCV000075144 RCV001034673 RCV002288566 RCV005357457
NM_000249.4(MLH1):c.1207C>T (p.Pro403Ser)	SNV Germline	Chr3:37025805	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA004711	rs_587778897	6 SubmittersRCV000774704 RCV001529817 RCV001067467 RCV005357459
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 not specified Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Breast and/or ovarian cancer MLH1-related disorder	Criteria Provided Conflicting Classifications	CA005085	rs_63750527	20 SubmittersRCV000115458 RCV000410484 RCV000200984 RCV000587838 RCV000764492 RCV001080105 RCV003148646 RCV003149732 RCV004748553
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)	SNV Germline/somatic	Chr3:37028833	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch-like syndrome Lynch syndrome 1 Carcinoma of colon MLH1-related disorder	Reviewed By Expert Panel	CA005475	rs_63749795	24 SubmittersRCV000075218 RCV000128870 RCV000255034 RCV000524240 RCV000662808 RCV000763103 RCV001249944 RCV001093677 RCV001353584 RCV004748554
NM_000249.4(MLH1):c.146T>A (p.Val49Glu)	SNV Germline	Chr3:36996648	Pathogenic	Lynch syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA005522	rs_63750098	2 SubmittersRCV000075223 RCV005394310
NM_000249.4(MLH1):c.1474G>A (p.Ala492Thr)	SNV Germline	Chr3:37028848	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms not specified Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA005528	rs_63751145	13 SubmittersRCV000075224 RCV000132236 RCV000212538 RCV000524241 RCV003478994 RCV003474657 RCV005394311
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 Lynch syndrome not specified	Criteria Provided Conflicting Classifications	CA005534	rs_63750226	13 SubmittersRCV000221321 RCV000409591 RCV000483364 RCV000627722 RCV000764493 RCV003997114 RCV002228178
NM_000249.4(MLH1):c.1559-1G>C	SNV Germline	Chr3:37040185	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA005891	rs_267607837	8 SubmittersRCV000075254 RCV000539690 RCV001012154 RCV001091800 RCV003455989 RCV003448260 RCV005237501
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln)	SNV Germline	Chr3:37040192	Conflicting classifications of pathogenicity	Lynch syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome not specified Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA005937	rs_63751630	15 SubmittersRCV000075265 RCV000483197 RCV000662491 RCV000627718 RCV000566893 RCV001778702 RCV005025121
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala)	SNV Germline	Chr3:37040260	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary nonpolyposis colorectal neoplasms MLH1-related disorder Lynch syndrome Breast and/or ovarian cancer Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA006190	rs_267607840	21 SubmittersRCV000130610 RCV000212542 RCV000606136 RCV000656863 RCV000524244 RCV003935009 RCV003997116 RCV003492409 RCV005025122
NM_000249.4(MLH1):c.1731+5G>A	SNV Germline	Chr3:37042336	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006570	rs_267607850	6 SubmittersRCV000075328 RCV001012888 RCV001201385 RCV005357461 RCV002279946 RCV003451056
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)	SNV Germline	Chr3:37042331	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Colon cancer Lynch syndrome 1 Hereditary nonpolyposis colon cancer Breast and/or ovarian cancer Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome MLH1-related disorder	Reviewed By Expert Panel	CA006585	rs_63751657	19 SubmittersRCV000075331 RCV000132025 RCV000202231 RCV000524246 RCV000662481 RCV001580146 RCV001804815 RCV001553748 RCV003492410 RCV002483122 RCV004748555
NM_000249.4(MLH1):c.1877T>C (p.Phe626Ser)	SNV Germline	Chr3:37047664	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA007302	rs_587778952	4 SubmittersRCV000696198 RCV001013501 RCV005394312
NM_000249.4(MLH1):c.1897-2A>G	SNV Germline	Chr3:37048515	Likely pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 not specified Familial cancer of breast	Reviewed By Expert Panel	CA007469	rs_267607871	13 SubmittersRCV000075411 RCV000487325 RCV000570210 RCV000524638 RCV000763104 RCV000662785 RCV001844029 RCV005357463
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 Lynch syndrome 1 Condition: not provided Lynch syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 not specified Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary breast ovarian cancer syndrome MLH1-related disorder	Criteria Provided Conflicting Classifications	CA007619	rs_63750952	19 SubmittersRCV000075426 RCV000217492 RCV000490571 RCV000513562 RCV000708912 RCV005025123 RCV005055564 RCV001262297 RCV002288569 RCV004760365 RCV004748556
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu)	SNV Germline	Chr3:37048563	Likely pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome	Reviewed By Expert Panel	CA007716	rs_63750610	8 SubmittersRCV000477957 RCV000812087 RCV000075433 RCV000221413 RCV001269952 RCV003997119
NM_000249.4(MLH1):c.1976G>A (p.Arg659Gln)	SNV Germline	Chr3:37048596	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA007891	rs_63749900	12 SubmittersRCV000121365 RCV000656865 RCV001081501 RCV000568527 RCV005031554 RCV003997120 RCV005600642
NM_000249.4(MLH1):c.1A>G (p.Met1Val)	SNV Germline	Chr3:36993548	Pathogenic	Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA008127	rs_587778967	5 SubmittersRCV000075477 RCV000629832 RCV005031555 RCV002415530 RCV003477467
NM_000249.4(MLH1):c.2040C>T (p.Cys680=)	SNV Germline/somatic	Chr3:37048954	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA008297	rs_63749867	9 SubmittersRCV000075494 RCV000567661 RCV000541158 RCV000662499 RCV001711130 RCV005357465
NM_000249.4(MLH1):c.2042C>T (p.Ala681Val)	SNV Germline	Chr3:37048956	Pathogenic/Likely pathogenic	Hereditary nonpolyposis colorectal neoplasms Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Multiple Submitters No Conflicts	CA008313	rs_63750864	6 SubmittersRCV000698693 RCV000213632 RCV000764497 RCV002415533 RCV005222739
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)	SNV Germline	Chr3:37048973	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome 1 Carcinoma of colon MLH1-related disorder	Reviewed By Expert Panel	CA008336	rs_63751275	24 SubmittersRCV000075499 RCV000215428 RCV000481137 RCV000411954 RCV000524272 RCV000763106 RCV001093679 RCV001356525 RCV003915039
NM_000249.4(MLH1):c.208-3C>G	SNV Germline/somatic	Chr3:37000952	Likely pathogenic	Condition: not provided Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008526	rs_267607720	8 SubmittersRCV000160554 RCV000075517 RCV000562969 RCV000524274 RCV000763098 RCV003451102
NM_000249.4(MLH1):c.2135G>A (p.Trp712Ter)	SNV Germline	Chr3:37050517	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008833	rs_63750561	12 SubmittersRCV000202047 RCV000581002 RCV000075550 RCV000686456 RCV001310200 RCV005394315 RCV003451108
NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter)	SNV Germline	Chr3:37050523	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008850	rs_63751022	10 SubmittersRCV000075553 RCV000165669 RCV001044497 RCV002280100 RCV000144606 RCV005357468 RCV003451110
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 Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome MLH1-related disorder Lynch syndrome	Criteria Provided Conflicting Classifications	CA008958	rs_587778986	13 SubmittersRCV000160544 RCV000212548 RCV000409675 RCV000524278 RCV000781540 RCV002483123 RCV003390768 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 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Criteria Provided Conflicting Classifications	CA009007	rs_566928243	17 SubmittersRCV000075568 RCV000115473 RCV000212549 RCV000586779 RCV000764498 RCV001147135 RCV001079417
NM_000249.4(MLH1):c.306+5G>A	SNV Germline	Chr3:37001058	Pathogenic	Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1	Reviewed By Expert Panel	CA009684	rs_267607735	10 SubmittersRCV000202186 RCV000022504 RCV000075634 RCV001018363 RCV001045822 RCV000763099 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 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 not specified Lynch syndrome	Criteria Provided Conflicting Classifications	CA009850	rs_63750465	10 SubmittersRCV000115481 RCV000235173 RCV000410226 RCV000524292 RCV000764481 RCV000780414 RCV003997128
NM_000249.4(MLH1):c.479C>T (p.Ala160Val)	SNV Germline	Chr3:37008839	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms not specified Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome MLH1-related disorder Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA010656	rs_63749924	10 SubmittersRCV000130760 RCV000524302 RCV000522486 RCV005420541 RCV003997131 RCV004748558 RCV005357473
NM_000249.4(MLH1):c.539T>G (p.Val180Gly)	SNV Germline	Chr3:37008899	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 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	CA010855	rs_63750102	13 SubmittersRCV000131749 RCV000212519 RCV000411648 RCV000524305 RCV005031556 RCV003320556 RCV003997133
NM_000249.4(MLH1):c.545+3A>G	SNV Germline/somatic	Chr3:37008908	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Lynch-like syndrome Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Hereditary nonpolyposis colon cancer Muir-Torré syndrome	Reviewed By Expert Panel	CA010914	rs_267607760	16 SubmittersRCV000609647 RCV000564669 RCV001249949 RCV000075749 RCV000215515 RCV001202202 RCV001804822 RCV005406805 RCV005357474
NM_000249.4(MLH1):c.546-1G>A	SNV Germline	Chr3:37011819	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colon cancer Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA010963	rs_587779022	7 SubmittersRCV000075754 RCV002271399 RCV005357475 RCV000482173 RCV001854304 RCV003162487 RCV003452746
NM_000249.4(MLH1):c.588+5G>A	SNV Germline	Chr3:37011867	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary nonpolyposis colon cancer Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome	Reviewed By Expert Panel	CA011130	rs_267607768	10 SubmittersRCV000075774 RCV000572458 RCV000627715 RCV003452753 RCV000213543 RCV001255542 RCV000763100
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.778C>T (p.Leu260Phe)	SNV Germline	Chr3:37014532	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary breast ovarian cancer syndrome Lynch syndrome Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA012012	rs_63750642	9 SubmittersRCV000130511 RCV000479043 RCV000705556 RCV004566932 RCV004786356 RCV004806052 RCV005364964
NM_000249.4(MLH1):c.791-1G>C	SNV Germline	Chr3:37017505	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome	Reviewed By Expert Panel	CA012277	rs_267607795	7 SubmittersRCV000075860 RCV001183311 RCV001388082 RCV001723644 RCV003452771 RCV002247470
NM_000249.4(MLH1):c.794G>A (p.Arg265His)	SNV Germline	Chr3:37017509	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Hereditary breast ovarian cancer syndrome Condition: not provided MLH1-related disorder Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA012404	rs_63751448	18 SubmittersRCV000131125 RCV000212526 RCV000410210 RCV000524318 RCV001253793 RCV001374504 RCV000656858 RCV004748560 RCV005025124
NM_000249.4(MLH1):c.885-2A>G	SNV Germline	Chr3:37020308	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome	Reviewed By Expert Panel	CA012922	rs_267607805	10 SubmittersRCV000075914 RCV000132040 RCV000481722 RCV000627716 RCV003452786 RCV005357478
NM_000249.4(MLH1):c.911A>G (p.Asp304Gly)	SNV Germline	Chr3:37020336	Conflicting classifications of pathogenicity	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colon cancer	Criteria Provided Conflicting Classifications	CA013037	rs_63750993	5 SubmittersRCV000482267 RCV000630091 RCV002371913 RCV005394317 RCV005237506
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 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Malignant tumor of breast Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer MLH1-related disorder	Criteria Provided Conflicting Classifications	CA013293	rs_63750796	22 SubmittersRCV000075945 RCV000115489 RCV000144597 RCV000212528 RCV000524325 RCV000410221 RCV000656859 RCV001357697 RCV000764484 RCV003492419 RCV003915040
NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter)	SNV Germline	Chr2:47416362	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms MSH2-related disorder Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1 Lynch syndrome 1	Reviewed By Expert Panel	CA016831	rs_63750778	8 SubmittersRCV000075997 RCV000215536 RCV000153512 RCV001215910 RCV004537286 RCV005357480 RCV003452794
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 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 not specified Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Hereditary nonpolyposis colon cancer Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA016975	rs_267607939	18 SubmittersRCV000128932 RCV000148635 RCV000588936 RCV000764423 RCV001844030 RCV000986664 RCV001085377 RCV005357481 RCV002279934 RCV004760366
NM_000251.3(MSH2):c.1076+1G>A	SNV Germline	Chr2:47416430	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Lynch syndrome 1 Mismatch repair cancer syndrome 2 Muir-Torré syndrome	Reviewed By Expert Panel	CA017072	rs_267607940	11 SubmittersRCV000076014 RCV000132414 RCV000485147 RCV000541273 RCV000763489 RCV003452798 RCV005364966
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)	SNV Germline/somatic	Chr2:47429812	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colon cancer Lynch-like syndrome Rhabdomyosarcoma MSH2-related disorder Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA017356	rs_63749849	24 SubmittersRCV000076049 RCV000202261 RCV000221364 RCV000524330 RCV000576748 RCV000763490 RCV001192613 RCV001249954 RCV001257542 RCV004537287 RCV005237507
NM_000251.3(MSH2):c.1215C>A (p.Tyr405Ter)	SNV Germline	Chr2:47429880	Pathogenic	Lynch syndrome Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA017512	rs_63751271	4 SubmittersRCV000076063 RCV005364967 RCV002354267
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)	SNV Germline	Chr2:47429882	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 1 not specified Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colorectal neoplasms Breast and/or ovarian cancer Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA017527	rs_146567853	14 SubmittersRCV000132166 RCV000212599 RCV000411777 RCV000781558 RCV000765665 RCV001083003 RCV001798264 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 Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1 Lynch syndrome 1 Hereditary nonpolyposis colon cancer Condition: not provided	Reviewed By Expert Panel	CA017756	rs_267607950	8 SubmittersRCV000076088 RCV000491760 RCV000707663 RCV002498365 RCV003452816 RCV004700380 RCV003237437
NM_000251.3(MSH2):c.1277-1G>A	SNV Germline/somatic	Chr2:47445547	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1	Reviewed By Expert Panel	CA017815	rs_267607948	5 SubmittersRCV000076097 RCV002371915 RCV003452817 RCV005031557
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)	SNV Germline	Chr2:47403319	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Condition: not provided Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Sarcoma MSH2-related disorder Hereditary cancer Mismatch repair cancer syndrome 2 Muir-Torré syndrome Lynch syndrome 1 Muir-Torré syndrome Lynch syndrome	Criteria Provided Conflicting Classifications	CA017905	rs_17217723	19 SubmittersRCV000212578 RCV000131211 RCV000409784 RCV000524339 RCV000656872 RCV000764419 RCV001262887 RCV004537289 RCV004700381 RCV005394319 RCV003330424
NM_000251.3(MSH2):c.1386+1G>T	SNV Germline	Chr2:47445658	Likely pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1 Lynch syndrome 1	Reviewed By Expert Panel	CA018142	rs_267607957	8 SubmittersRCV000076139 RCV001723646 RCV002390223 RCV002514350 RCV004796004 RCV003452829
NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys)	SNV Germline/somatic	Chr2:47466747	Conflicting classifications of pathogenicity	Lynch syndrome Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided not specified Muir-Torré syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA018706	rs_63750029	12 SubmittersRCV000076204 RCV000410514 RCV000491263 RCV000524349 RCV000588411 RCV001175346 RCV005031558
NM_000251.3(MSH2):c.1661+1G>T	SNV Germline/somatic	Chr2:47466809	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1	Reviewed By Expert Panel	CA018841	rs_267607969	7 SubmittersRCV000076217 RCV000491252 RCV000986676 RCV001070711 RCV002498366
NM_000251.3(MSH2):c.1662-1G>A	SNV Germline/somatic	Chr2:47470964	Pathogenic	Muir-Torré syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2 Mismatch repair cancer syndrome 2 Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch-like syndrome Lynch syndrome 1	Reviewed By Expert Panel	CA018892	rs_267607970	9 SubmittersRCV005031559 RCV000001836 RCV000076224 RCV000491087 RCV001239294 RCV001249923 RCV003452848
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys)	SNV Germline	Chr2:47470984	Conflicting classifications of pathogenicity	Lynch syndrome 1 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 1 Lynch syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2 Muir-Torré syndrome not specified	Criteria Provided Conflicting Classifications	CA018988	rs_63750328	16 SubmittersRCV000410128 RCV000484663 RCV000524354 RCV000568086 RCV001198848 RCV003997152 RCV005394320 RCV005417454
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter)	SNV Germline/somatic	Chr2:47475126	Pathogenic	Lynch syndrome Lynch syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch-like syndrome Hereditary nonpolyposis colon cancer Breast carcinoma Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1 Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA019461	rs_63750508	20 SubmittersRCV000076305 RCV000602838 RCV000491286 RCV000414448 RCV000763492 RCV000524364 RCV001249915 RCV001328039 RCV001650893 RCV005357487 RCV005055066
NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu)	SNV Germline	Chr2:47476370	Conflicting classifications of pathogenicity	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 syndrome Lynch syndrome 1 MSH2-related disorder Muir-Torré syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA019790	rs_41294982	12 SubmittersRCV000220086 RCV000483333 RCV000524371 RCV000765672 RCV002265597 RCV003997156 RCV003389040 RCV004734631 RCV005394321
NM_000251.3(MSH2):c.2089T>C (p.Cys697Arg)	SNV Germline	Chr2:47476450	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1 MSH2-related disorder	Reviewed By Expert Panel	CA019984	rs_63750961	7 SubmittersRCV000076384 RCV002228184 RCV002415564 RCV005394322 RCV004537293
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)	SNV Germline/somatic	Chr2:47476492	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary nonpolyposis colorectal neoplasms Lynch-like syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Lynch syndrome 1	Reviewed By Expert Panel	CA020107	rs_63750636	26 SubmittersRCV000076405 RCV000129341 RCV000202062 RCV001000186 RCV000524377 RCV001249926 RCV000763494 RCV002272055
NM_000251.3(MSH2):c.2420C>G (p.Thr807Ser)	SNV Germline	Chr2:47478481	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1	Criteria Provided Conflicting Classifications	CA020570	rs_41295294	3 SubmittersRCV000573758 RCV000627714 RCV005394323
NM_000251.3(MSH2):c.2459-12A>G	SNV Germline/somatic	Chr2:47480684	Pathogenic/Likely pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Hereditary nonpolyposis colon cancer Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA020616	rs_267608012	9 SubmittersRCV000076479 RCV000160620 RCV001015604 RCV001854328 RCV003452913 RCV004586538 RCV005025127
NM_000251.3(MSH2):c.2503A>C (p.Asn835His)	SNV Germline	Chr2:47480740	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Lynch syndrome 1 Condition: not provided Hereditary nonpolyposis colorectal neoplasms MSH2-related disorder Lynch syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA020651	rs_41295296	16 SubmittersRCV000115519 RCV000212621 RCV000410916 RCV000656882 RCV001082618 RCV004734633 RCV003997162 RCV005357489
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	11 SubmittersRCV000076492 RCV000166332 RCV000486446 RCV000765673 RCV000986690 RCV001085048 RCV001354097 RCV003153356 RCV004525868
NM_000251.3(MSH2):c.425C>G (p.Ser142Ter)	SNV Germline	Chr2:47410152	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Lynch syndrome 1 Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2	Reviewed By Expert Panel	CA021151	rs_63750910	8 SubmittersRCV000076598 RCV000519167 RCV001022162 RCV001071576 RCV001797622 RCV003452940 RCV005394327
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)	SNV Germline	Chr2:47410162	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Colorectal cancer, non-polyposis not specified Condition: not provided Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Breast and/or ovarian cancer MSH2-related disorder Breast carcinoma Carcinoma of colon Lynch syndrome Hereditary cancer	Criteria Provided Conflicting Classifications	CA021158	rs_63750124	26 SubmittersRCV000115532 RCV000148628 RCV000212585 RCV000588226 RCV000764421 RCV001085983 RCV000662480 RCV001798267 RCV004528278 RCV001262752 RCV001358588 RCV004806057 RCV005234973
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg)	SNV Germline	Chr2:47410211	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Condition: not provided Hereditary nonpolyposis colon cancer Muir-Torré syndrome	Reviewed By Expert Panel	CA021199	rs_63750624	13 SubmittersRCV000076608 RCV000491163 RCV000524412 RCV000662882 RCV000985811 RCV001194033 RCV004546430
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser)	SNV Germline	Chr2:47410284	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Lynch syndrome 1 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Breast and/or ovarian cancer Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA021391	rs_151129360	16 SubmittersRCV000130716 RCV000202264 RCV000411418 RCV000587046 RCV001081828 RCV001798268 RCV005357494
NM_000251.3(MSH2):c.806C>T (p.Ser269Leu)	SNV Germline	Chr2:47414282	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1	Criteria Provided Conflicting Classifications	CA022333	rs_63750058	3 SubmittersRCV000822527 RCV002415568 RCV005357496
NM_000251.3(MSH2):c.862C>T (p.Gln288Ter)	SNV Germline	Chr2:47414338	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1	Reviewed By Expert Panel	CA022450	rs_63750097	9 SubmittersRCV000076738 RCV000528830 RCV000484173 RCV001183048 RCV003452970 RCV005394328
NM_000251.3(MSH2):c.868G>T (p.Glu290Ter)	SNV Germline	Chr2:47414344	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Lynch syndrome 1	Reviewed By Expert Panel	CA022458	rs_587779190	7 SubmittersRCV000076740 RCV000165329 RCV000763488 RCV001854340 RCV004689446 RCV003452971
NM_000251.3(MSH2):c.929T>C (p.Leu310Pro)	SNV Germline	Chr2:47414405	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1	Reviewed By Expert Panel	CA022549	rs_63750640	4 SubmittersRCV000076750 RCV000491370 RCV001052685 RCV005025128
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro)	SNV Germline	Chr2:47403288	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Mismatch repair cancer syndrome 2 Muir-Torré syndrome Lynch syndrome Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA022692	rs_63751107	13 SubmittersRCV000129083 RCV000236043 RCV000656871 RCV000662483 RCV000627734 RCV002483125 RCV003997185 RCV001354855
NM_000251.3(MSH2):c.989T>C (p.Leu330Pro)	SNV Germline	Chr2:47416342	Pathogenic	Lynch syndrome Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2 Colonic diverticula Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA022706	rs_63750630	4 SubmittersRCV000076775 RCV005357497 RCV001554291 RCV003593904
NM_000249.4(MLH1):c.739T>G (p.Ser247Ala)	SNV Germline	Chr3:37014493	Conflicting classifications of pathogenicity	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 not specified	Criteria Provided Conflicting Classifications	CA011868	rs_63750948	7 SubmittersRCV000114847 RCV000629785 RCV001026384 RCV003997209 RCV005394380 RCV003320096
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	15 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 Condition: not provided Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2 Breast and/or ovarian cancer not specified Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA005861	rs_199935667	15 SubmittersRCV000115461 RCV000590226 RCV000758646 RCV001086042 RCV000515436 RCV000663109 RCV003149796 RCV001175375 RCV005364994
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 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Lynch syndrome	Criteria Provided Conflicting Classifications	CA006520	rs_56185292	17 SubmittersRCV000115465 RCV000121362 RCV000226023 RCV000411289 RCV000515241 RCV000656864 RCV003997263
NM_000249.4(MLH1):c.2239C>T (p.Pro747Ser)	SNV Germline	Chr3:37050621	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided not specified Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA009179	rs_587779958	9 SubmittersRCV000115475 RCV000535352 RCV000586644 RCV001420716 RCV003460818 RCV005031606
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu)	SNV Germline	Chr2:47429847	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 not specified Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1 Lynch syndrome	Criteria Provided Conflicting Classifications	CA017419	rs_374135434	12 SubmittersRCV000115496 RCV000212598 RCV000477595 RCV000663103 RCV001818271 RCV005394384 RCV003997267
NM_000251.3(MSH2):c.1238A>C (p.Gln413Pro)	SNV Germline	Chr2:47429903	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Lynch syndrome	Criteria Provided Conflicting Classifications	CA017617	rs_587779962	9 SubmittersRCV000115499 RCV000212601 RCV000515341 RCV000532709 RCV003467045 RCV003997269
NM_000251.3(MSH2):c.1582A>C (p.Lys528Gln)	SNV Germline	Chr2:47466729	Conflicting classifications of pathogenicity	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 1 Carcinoma of colon Lynch syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA018669	rs_199744440	9 SubmittersRCV000115503 RCV000463961 RCV000491225 RCV000662996 RCV001354840 RCV003997271 RCV005025177
NM_000251.3(MSH2):c.1601G>A (p.Arg534His)	SNV Germline	Chr2:47466748	Conflicting classifications of pathogenicity	not specified Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 1 Condition: not provided Lynch syndrome MSH2-related disorder Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1	Criteria Provided Conflicting Classifications	CA018712	rs_587778523	15 SubmittersRCV000121559 RCV000122981 RCV000492001 RCV000662395 RCV000656878 RCV003997272 RCV004734649 RCV005394385
NM_000251.3(MSH2):c.607G>A (p.Gly203Arg)	SNV Germline	Chr2:47410334	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA021564	rs_587779973	9 SubmittersRCV000115536 RCV000221014 RCV000409174 RCV000472250 RCV003997280 RCV005394386
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 Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1 Lynch syndrome	Criteria Provided Conflicting Classifications	CA021573	rs_63750574	10 SubmittersRCV000115537 RCV000196378 RCV000215932 RCV000411245 RCV002505033 RCV003997281
NM_000251.3(MSH2):c.70C>T (p.Gln24Ter)	SNV Germline	Chr2:47403261	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Lynch syndrome not specified Mismatch repair cancer syndrome 2 Muir-Torré syndrome Lynch syndrome 1	Criteria Provided Conflicting Classifications	CA022076	rs_587779976	9 SubmittersRCV000115541 RCV000772129 RCV002515795 RCV003453042 RCV004017400 RCV003479007 RCV005025178
NM_000249.4(MLH1):c.1709A>G (p.Asn570Ser)	SNV Germline	Chr3:37042309	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided MLH1-related disorder Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA006451	rs_375853155	13 SubmittersRCV000121361 RCV000160540 RCV000233319 RCV000411716 RCV000586361 RCV004748587 RCV005394420
NM_000251.3(MSH2):c.5C>T (p.Ala2Val)	SNV Germline	Chr2:47403196	Conflicting classifications of pathogenicity	not specified Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 1 Condition: not provided Mismatch repair cancer syndrome 2 Lynch syndrome 1 Muir-Torré syndrome Lynch syndrome	Criteria Provided Conflicting Classifications	CA021548	rs_587778521	14 SubmittersRCV000121557 RCV000168363 RCV000561626 RCV000410801 RCV000512708 RCV005025193 RCV003997346
NM_000251.3(MSH2):c.220A>C (p.Asn74His)	SNV Germline	Chr2:47408409	Conflicting classifications of pathogenicity	not specified Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 1 Mismatch repair cancer syndrome 2 Muir-Torré syndrome Lynch syndrome Mismatch repair cancer syndrome 2 Lynch syndrome MSH2-related disorder	Criteria Provided Conflicting Classifications	CA020232	rs_150548839	14 SubmittersRCV000121566 RCV000230947 RCV000409685 RCV000571485 RCV000587188 RCV002477316 RCV003483487 RCV003997350 RCV004734660
NM_000249.4(MLH1):c.1268G>A (p.Arg423Lys)	SNV Germline	Chr3:37025866	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA004891	rs_370687064	11 SubmittersRCV000131167 RCV000487001 RCV000588087 RCV001085064 RCV000411892 RCV005365013
NM_000251.3(MSH2):c.166G>A (p.Glu56Lys)	SNV Germline	Chr2:47403357	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Condition: not provided not specified Hereditary cancer-predisposing syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2 Muir-Torré syndrome Lynch syndrome 1 Lynch syndrome	Criteria Provided Conflicting Classifications	CA018954	rs_587779102	9 SubmittersRCV000122982 RCV000657006 RCV000235661 RCV000580136 RCV002477321 RCV003460870 RCV003997405
NM_000251.3(MSH2):c.336C>A (p.Ser112=)	SNV Germline	Chr2:47408525	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Lynch syndrome 1 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1	Criteria Provided Conflicting Classifications	CA021025	rs_34312619	12 SubmittersRCV000163093 RCV000420474 RCV000662370 RCV000590813 RCV001082839 RCV003997409 RCV005394440
NM_000251.3(MSH2):c.819A>G (p.Val273=)	SNV Germline	Chr2:47414295	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Mismatch repair cancer syndrome 2 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA022370	rs_146577635	14 SubmittersRCV000160641 RCV000212592 RCV000586418 RCV001139365 RCV001082291 RCV005394441
NM_000249.4(MLH1):c.1154G>A (p.Arg385His)	SNV Germline/somatic	Chr3:37025752	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms not specified Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch-like syndrome Condition: not provided Lynch syndrome	Criteria Provided Conflicting Classifications	CA004510	rs_63750430	17 SubmittersRCV000128876 RCV000409286 RCV000232561 RCV000484459 RCV000764490 RCV001249936 RCV000657135 RCV003997466
NM_000251.3(MSH2):c.775C>T (p.Pro259Ser)	SNV Germline	Chr2:47412543	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Malignant tumor of breast Lynch syndrome 1 Lynch syndrome MSH2-related disorder Lynch syndrome 1 Mismatch repair cancer syndrome 2 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA022230	rs_587781294	14 SubmittersRCV000235651 RCV000128997 RCV000228319 RCV000759122 RCV001269353 RCV003333736 RCV003997470 RCV004532540 RCV005025205
NM_000249.4(MLH1):c.704A>T (p.Asp235Val)	SNV Germline	Chr3:37014458	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome Condition: not provided not specified Ovarian cancer Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA011774	rs_587781505	12 SubmittersRCV000129480 RCV000529021 RCV001030626 RCV002285268 RCV001290582 RCV003153416 RCV003997505 RCV005420563 RCV005359205
NM_000251.3(MSH2):c.1228G>T (p.Gly410Cys)	SNV Germline	Chr2:47429893	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA017600	rs_587782242	4 SubmittersRCV000130945 RCV001206567 RCV005359250
NM_000251.3(MSH2):c.900G>A (p.Met300Ile)	SNV Germline	Chr2:47414376	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA022513	rs_587782530	5 SubmittersRCV000131729 RCV000487151 RCV001202065 RCV004806081 RCV005025217
NM_000249.4(MLH1):c.1775G>C (p.Ser592Thr)	SNV Germline	Chr3:37047562	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 MLH1-related disorder not specified Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA006877	rs_587782621	14 SubmittersRCV000132004 RCV000199682 RCV000524250 RCV000483590 RCV000662692 RCV003407556 RCV004596073 RCV005031644
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser)	SNV Germline	Chr3:37012048	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 not specified MLH1-related disorder Lynch syndrome Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA011273	rs_150478207	16 SubmittersRCV000132489 RCV000200318 RCV000480315 RCV000662374 RCV001804854 RCV003398776 RCV003998148 RCV005365041
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 Lynch syndrome Mismatch repair cancer syndrome 2 not specified Lynch syndrome MSH2-related disorder Lynch syndrome 1 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA019583	rs_374840361	14 SubmittersRCV000148637 RCV000160596 RCV000204646 RCV000589876 RCV000765671 RCV003483522 RCV002509245 RCV003998170 RCV004532666 RCV004567167 RCV005359313
NM_000251.3(MSH2):c.2203A>G (p.Ile735Val)	SNV Germline	Chr2:47476564	Conflicting classifications of pathogenicity	Ovarian cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Condition: not provided Hereditary cancer-predisposing syndrome not specified Muir-Torré syndrome MSH2-related disorder	Criteria Provided Conflicting Classifications	CA020218	rs_2229061	12 SubmittersRCV000148638 RCV000471467 RCV000411526 RCV000588732 RCV000491584 RCV001175338 RCV005359314 RCV004532667
NM_000251.3(MSH2):c.-9G>C	SNV Germline	Chr2:47403183	Conflicting classifications of pathogenicity	not specified Condition: not provided Lynch syndrome 1 Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome MSH2-related disorder	Criteria Provided Conflicting Classifications	CA022727	rs_547444746	11 SubmittersRCV000160647 RCV000732070 RCV000410517 RCV003584558 RCV005025247 RCV001850270 RCV003998488 RCV004734755
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)	SNV Germline	Chr2:47403246	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Lynch syndrome 1 Condition: not provided not specified Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer MSH2-related disorder Muir-Torré syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2 Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA021396	rs_141711342	17 SubmittersRCV000160635 RCV000409531 RCV000588459 RCV001255213 RCV001084278 RCV003323295 RCV004528902 RCV005359372 RCV003492654
NM_000251.3(MSH2):c.126C>G (p.Phe42Leu)	SNV Germline	Chr2:47403317	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Lynch syndrome 1 Muir-Torré syndrome not specified	Criteria Provided Conflicting Classifications	CA017708	rs_730881766	10 SubmittersRCV000160605 RCV000212577 RCV000559519 RCV003998479 RCV004567210 RCV005359368 RCV001192614
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 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 not specified Lynch syndrome	Criteria Provided Conflicting Classifications	CA021103	rs_730881768	12 SubmittersRCV000197978 RCV000217291 RCV000590606 RCV000662843 RCV000515278 RCV003330516 RCV003998481
NM_000251.3(MSH2):c.544G>T (p.Asp182Tyr)	SNV Germline	Chr2:47410271	Conflicting classifications of pathogenicity	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome not specified Mismatch repair cancer syndrome 2 Lynch syndrome 1 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA021347	rs_730881770	6 SubmittersRCV000160614 RCV001348083 RCV001024126 RCV005055651 RCV005025245
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 Mismatch repair cancer syndrome 2 Lynch syndrome Lynch syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1 Muir-Torré syndrome not specified	Criteria Provided Conflicting Classifications	CA021433	rs_141021599	12 SubmittersRCV000233177 RCV000565216 RCV000590509 RCV000410808 RCV003483528 RCV003998484 RCV002478486 RCV001251062
NM_000251.3(MSH2):c.592G>T (p.Glu198Ter)	SNV Germline	Chr2:47410319	Pathogenic	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Mismatch repair cancer syndrome 2 Lynch syndrome 1 Muir-Torré syndrome	Criteria Provided Multiple Submitters No Conflicts	CA021507	rs_587779166	5 SubmittersRCV000491751 RCV001212954 RCV003453269 RCV005031675
NM_000251.3(MSH2):c.701C>T (p.Thr234Ile)	SNV Germline	Chr2:47412469	Conflicting classifications of pathogenicity	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Hereditary cancer-predisposing syndrome Lynch syndrome Muir-Torré syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA022053	rs_730881773	10 SubmittersRCV000160625 RCV000473583 RCV000663301 RCV000562874 RCV004806115 RCV005359370
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg)	SNV Germline	Chr2:47412484	Conflicting classifications of pathogenicity	not specified Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA022091	rs_199676483	17 SubmittersRCV000160626 RCV000198252 RCV000411135 RCV000491808 RCV000656873 RCV000708828 RCV005359371
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr)	SNV Germline	Chr2:47412534	Conflicting classifications of pathogenicity	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 1 not specified Muir-Torré syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA022219	rs_377403073	11 SubmittersRCV000160627 RCV000196535 RCV000491536 RCV000662661 RCV002265637 RCV005394556
NM_000251.3(MSH2):c.1189C>G (p.Gln397Glu)	SNV Germline	Chr2:47429854	Conflicting classifications of pathogenicity	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 1 not specified Lynch syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA017431	rs_63750611	11 SubmittersRCV000160634 RCV000233011 RCV000491315 RCV001257466 RCV001269197 RCV003998485 RCV005025246
NM_000251.3(MSH2):c.1571G>A (p.Arg524His)	SNV Germline	Chr2:47466718	Conflicting classifications of pathogenicity	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome Breast carcinoma Muir-Torré syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2 Lynch syndrome 1 Muir-Torré syndrome Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA018637	rs_63751207	13 SubmittersRCV000160592 RCV000228006 RCV000218047 RCV000708832 RCV002243830 RCV005025244 RCV003467248 RCV005359367 RCV003492653
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg)	SNV Germline	Chr2:47480774	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms not specified Lynch syndrome 1 Condition: not provided Hereditary cancer Muir-Torré syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA020697	rs_140754514	14 SubmittersRCV000160621 RCV000168241 RCV000235176 RCV000663089 RCV000656883 RCV004700494 RCV005359369
NM_000249.4(MLH1):c.-14C>T	SNV Germline	Chr3:36993534	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Muir-Torré syndrome Lynch syndrome	Criteria Provided Conflicting Classifications	CA005596	rs_730881744	5 SubmittersRCV000160546 RCV000776169 RCV005359365 RCV003998467
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 cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms not specified	Criteria Provided Conflicting Classifications	CA004129	rs_730881737	6 SubmittersRCV000160524 RCV000764486 RCV002390389 RCV001850268 RCV005437970
NM_000249.4(MLH1):c.1243G>A (p.Asp415Asn)	SNV Germline	Chr3:37025841	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Breast and/or ovarian cancer Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome	Criteria Provided Conflicting Classifications	CA004818	rs_373767220	9 SubmittersRCV000160532 RCV000198513 RCV000212533 RCV000515376 RCV003149975 RCV003467246 RCV004806113
NM_000249.4(MLH1):c.1269G>A (p.Arg423=)	SNV Germline	Chr3:37025867	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome 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	Criteria Provided Conflicting Classifications	CA004900	rs_373076967	15 SubmittersRCV000160562 RCV000212534 RCV000662830 RCV000589453 RCV001086876 RCV005394555
NM_000249.4(MLH1):c.1628A>G (p.His543Arg)	SNV Germline	Chr3:37040255	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Endometrial carcinoma Lynch syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Inherited ovarian cancer (without breast cancer)	Criteria Provided Conflicting Classifications	CA006185	rs_730881742	11 SubmittersRCV000160537 RCV000206589 RCV000212541 RCV000409504 RCV001354460 RCV003998466 RCV005031674 RCV005237596
NM_000251.3(MSH2):c.-181G>A	SNV Germline	Chr2:47403011	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Condition: not provided Familial cancer of breast Mismatch repair cancer syndrome 2 Lynch syndrome 1 Muir-Torré syndrome MSH2-related disorder	Criteria Provided Conflicting Classifications	CA021770	rs_786201698	7 SubmittersRCV000164108 RCV000410088 RCV001346811 RCV001536270 RCV005359463 RCV002492654 RCV004535093
NM_000251.3(MSH2):c.74G>A (p.Gly25Asp)	SNV Germline	Chr2:47403265	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms not specified Condition: not provided Lynch syndrome 1 Lynch syndrome Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA022180	rs_767747378	10 SubmittersRCV000164134 RCV000525136 RCV001193893 RCV001762365 RCV003462126 RCV003995317 RCV005359466
NM_000251.3(MSH2):c.376G>A (p.Gly126Ser)	SNV Germline	Chr2:47410103	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Condition: not provided Lynch syndrome Lynch syndrome 1	Criteria Provided Conflicting Classifications	CA021086	rs_767371843	8 SubmittersRCV000199020 RCV000166502 RCV000515190 RCV004589798 RCV003995507 RCV004567305
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 Mismatch repair cancer syndrome 1 Lynch syndrome 1 Muir-Torré syndrome not specified Lynch syndrome 1 Lynch syndrome	Criteria Provided Conflicting Classifications	CA021133	rs_193096019	14 SubmittersRCV000166792 RCV000546078 RCV000997136 RCV002053989 RCV002267920 RCV002291583 RCV001357296
NM_000251.3(MSH2):c.606C>G (p.Pro202=)	SNV Germline	Chr2:47410333	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Lynch syndrome 1 not specified Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome MSH2-related disorder Mismatch repair cancer syndrome 2 Lynch syndrome 1 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA021556	rs_63750600	13 SubmittersRCV000162431 RCV000281902 RCV000423282 RCV001079211 RCV000524416 RCV003995195 RCV004535052 RCV005394568
NM_000251.3(MSH2):c.2043A>G (p.Gln681=)	SNV Germline	Chr2:47476404	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Breast and/or ovarian cancer Lynch syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA019883	rs_730881763	10 SubmittersRCV000163402 RCV000679301 RCV001085062 RCV005246690 RCV003149999 RCV003995254 RCV005394586
NM_000251.3(MSH2):c.2528G>A (p.Cys843Tyr)	SNV Germline	Chr2:47480765	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 not specified Lynch syndrome Condition: not provided Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA020680	rs_747700106	10 SubmittersRCV000166329 RCV000232782 RCV005246733 RCV001194027 RCV003995501 RCV001594863 RCV005396487
NM_000249.4(MLH1):c.415C>G (p.Pro139Ala)	SNV Germline	Chr3:37007025	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA010313	rs_779562531	10 SubmittersRCV000166916 RCV000204264 RCV000521531 RCV000524299 RCV000662504 RCV005365091
NM_000249.4(MLH1):c.454G>A (p.Val152Met)	SNV Germline	Chr3:37008814	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome Lynch syndrome	Criteria Provided Conflicting Classifications	CA010615	rs_748417604	7 SubmittersRCV000163977 RCV000222401 RCV000540116 RCV003447510 RCV003995305
NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg)	SNV Germline	Chr3:37025715	Conflicting classifications of pathogenicity	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 Lynch syndrome not specified Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA004380	rs_766904735	15 SubmittersRCV000166495 RCV000226857 RCV000484742 RCV000662540 RCV000764487 RCV000708919 RCV005230017 RCV005361016
NM_000249.4(MLH1):c.1136A>C (p.Tyr379Ser)	SNV Germline	Chr3:37025734	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms not specified Breast and/or ovarian cancer Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA004428	rs_143009528	9 SubmittersRCV000166929 RCV000481402 RCV000805743 RCV004596094 RCV003491912 RCV005361028 RCV005425778
NM_000249.4(MLH1):c.1236C>T (p.Val412=)	SNV Germline	Chr3:37025834	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Condition: not provided Muir-Torré syndrome Lynch syndrome	Criteria Provided Conflicting Classifications	CA004803	rs_369576099	8 SubmittersRCV000163670 RCV001147917 RCV000943642 RCV001704174 RCV005359434 RCV003995269
NM_000249.4(MLH1):c.1415G>A (p.Arg472Lys)	SNV Germline	Chr3:37028789	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome MLH1-related disorder Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA005379	rs_63750498	9 SubmittersRCV000162406 RCV000541695 RCV000588918 RCV003998540 RCV004748609 RCV003467275 RCV005359389
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 Muir-Torré syndrome Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Hereditary nonpolyposis colorectal neoplasms not specified	Criteria Provided Conflicting Classifications	CA005977	rs_587779953	9 SubmittersRCV000167029 RCV000521886 RCV000663082 RCV000764494 RCV003995549 RCV000459950 RCV003987389
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr)	SNV Germline	Chr3:37040294	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Familial cancer of breast Hereditary nonpolyposis colon cancer Muir-Torré syndrome Condition: not provided Lynch syndrome	Criteria Provided Conflicting Classifications	CA006285	rs_63751596	9 SubmittersRCV000164556 RCV000822496 RCV002463655 RCV005237615 RCV005359479 RCV003477610 RCV004806133
NM_000249.4(MLH1):c.1690C>T (p.Leu564Phe)	SNV Germline	Chr3:37042290	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 not specified Lynch syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA006418	rs_786202693	13 SubmittersRCV000165630 RCV000478918 RCV000229336 RCV000662425 RCV001800495 RCV003995440 RCV005396484
NM_000249.4(MLH1):c.1743G>A (p.Pro581=)	SNV Germline	Chr3:37047530	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 not specified Condition: not provided Hereditary nonpolyposis colorectal neoplasms MLH1-related disorder Lynch syndrome Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA006676	rs_567838745	13 SubmittersRCV000165449 RCV000662457 RCV000420605 RCV000759810 RCV001084862 RCV003975235 RCV003995418 RCV005359508
NM_000249.4(MLH1):c.1770A>C (p.Leu590Phe)	SNV Germline	Chr3:37047557	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA006853	rs_769239969	7 SubmittersRCV000164192 RCV000685901 RCV003441761 RCV005420634 RCV003995322 RCV005396467
NM_000249.4(MLH1):c.319A>G (p.Ile107Val)	SNV Germline	Chr3:37004413	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA009774	rs_572906317	8 SubmittersRCV000167889 RCV000586116 RCV000583427 RCV001357822 RCV005031688
NM_000249.4(MLH1):c.1359G>C (p.Lys453Asn)	SNV Germline	Chr3:37025957	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA005076	rs_756099600	10 SubmittersRCV000167968 RCV000214998 RCV000590046 RCV004567360 RCV003995601 RCV005361046
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 Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Condition: not provided not specified Lynch syndrome MSH2-related disorder Lynch syndrome 1	Criteria Provided Conflicting Classifications	CA027308	rs_751431238	10 SubmittersRCV000200127 RCV000564423 RCV000765666 RCV001589078 RCV003155118 RCV003997012 RCV004528987 RCV003316110
NM_000251.3(MSH2):c.1813G>T (p.Val605Phe)	SNV Germline	Chr2:47475078	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 1 Hereditary cancer-predisposing syndrome not specified Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1 Lynch syndrome	Criteria Provided Conflicting Classifications	CA031537	rs_730881777	11 SubmittersRCV000199035 RCV000235488 RCV000412070 RCV000566201 RCV003323451 RCV005361147 RCV003997014
NM_000251.3(MSH2):c.2048G>T (p.Gly683Val)	SNV Germline	Chr2:47476409	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 not specified Condition: not provided Hereditary cancer-predisposing syndrome Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1 Lynch syndrome	Criteria Provided Conflicting Classifications	CA339026	rs_755920849	17 SubmittersRCV000199994 RCV000410314 RCV000485278 RCV000767061 RCV000490871 RCV005031745 RCV003997017
NM_000251.3(MSH2):c.2072T>C (p.Ile691Thr)	SNV Germline	Chr2:47476433	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA033486	rs_754824872	7 SubmittersRCV000195748 RCV000579733 RCV002307442 RCV003997018 RCV005031746
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 Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome	Criteria Provided Conflicting Classifications	CA035098	rs_757268664	10 SubmittersRCV000196465 RCV000560982 RCV000589091 RCV001140258 RCV002500622 RCV003997019
NM_000251.3(MSH2):c.793-1G>A	SNV Germline	Chr2:47414268	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA279694	rs_863225397	7 SubmittersRCV000202050 RCV000491505 RCV000703166 RCV001257468 RCV005365134
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 not specified Condition: not provided Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1 Lynch syndrome	Criteria Provided Conflicting Classifications	CA039073	rs_63750843	11 SubmittersRCV000214137 RCV000204442 RCV003320603 RCV000759837 RCV002485345 RCV003315420 RCV003997618
NM_000251.3(MSH2):c.641G>T (p.Arg214Ile)	SNV Germline	Chr2:47410368	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 1 Muir-Torré syndrome Lynch syndrome	Criteria Provided Conflicting Classifications	CA039588	rs_763298811	8 SubmittersRCV000204214 RCV000565649 RCV001556775 RCV003315421 RCV005361190 RCV003997641
NM_000251.3(MSH2):c.812C>G (p.Ser271Cys)	SNV Germline	Chr2:47414288	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome not specified Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome	Criteria Provided Conflicting Classifications	CA349912	rs_139891783	9 SubmittersRCV000205795 RCV000657148 RCV001180058 RCV000481152 RCV005396638 RCV003997604
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 Condition: not provided not specified Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome	Criteria Provided Conflicting Classifications	CA031443	rs_779447213	7 SubmittersRCV000205243 RCV000567614 RCV003477681 RCV002469065 RCV000765669 RCV004806198
NM_000251.3(MSH2):c.1898T>C (p.Ile633Thr)	SNV Germline	Chr2:47475163	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome Lynch syndrome 1 not specified Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA350189	rs_864622093	9 SubmittersRCV000206123 RCV000562458 RCV000519579 RCV003997560 RCV004567449 RCV001201177 RCV005396632
NM_000251.3(MSH2):c.2525A>T (p.Glu842Val)	SNV Germline	Chr2:47480762	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA349143	rs_373393954	10 SubmittersRCV000204953 RCV000662576 RCV000565136 RCV001558974 RCV003997640 RCV005396648
NM_000249.4(MLH1):c.650G>A (p.Arg217His)	SNV Germline	Chr3:37012072	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided 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 RCV000566399 RCV000478892 RCV001357243 RCV002494528 RCV003468950
NM_000249.4(MLH1):c.1270G>A (p.Ala424Thr)	SNV Germline	Chr3:37025868	Conflicting classifications of pathogenicity	not specified Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome	Criteria Provided Conflicting Classifications	CA028060	rs_377433038	12 SubmittersRCV000485106 RCV000206553 RCV000562644 RCV000987172 RCV000657001 RCV005396641 RCV003997623
NM_000249.4(MLH1):c.1876T>C (p.Phe626Leu)	SNV Germline	Chr3:37047663	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms not specified Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA031166	rs_377241633	11 SubmittersRCV000214440 RCV000708930 RCV000216958 RCV000462112 RCV003330588 RCV005365155 RCV003475015
NM_000251.3(MSH2):c.-82G>C	SNV Germline	Chr2:47403110	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Lynch syndrome 1 Condition: not provided Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2 Hereditary nonpolyposis colorectal neoplasms Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA10577908	rs_866991159	7 SubmittersRCV000219414 RCV001267894 RCV001549839 RCV005361286 RCV005090087 RCV003491972
NM_000251.3(MSH2):c.149C>A (p.Ala50Glu)	SNV Germline	Chr2:47403340	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Mismatch repair cancer syndrome 2 Lynch syndrome 1 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA10577920	rs_876658582	5 SubmittersRCV000215229 RCV000554733 RCV002264919 RCV005365149
NM_000251.3(MSH2):c.160G>A (p.Ala54Thr)	SNV Germline	Chr2:47403351	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA10577921	rs_749212640	8 SubmittersRCV000220104 RCV000814579 RCV000679293 RCV003997771 RCV005025356
NM_000251.3(MSH2):c.183G>T (p.Gln61His)	SNV Germline	Chr2:47403374	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	Criteria Provided Conflicting Classifications	CA031694	rs_751082926	6 SubmittersRCV000216596 RCV000537297 RCV001753678 RCV005396726
NM_000251.3(MSH2):c.938T>C (p.Phe313Ser)	SNV Germline	Chr2:47414414	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Lynch syndrome Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA041188	rs_780656204	6 SubmittersRCV000219588 RCV000461288 RCV003469076 RCV003998553 RCV005365167
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 Muir-Torré syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2 Lynch syndrome Lynch syndrome 1	Criteria Provided Conflicting Classifications	CA028810	rs_55653533	8 SubmittersRCV000219106 RCV000475338 RCV001589154 RCV002485427 RCV003998020 RCV003462508
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 Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome 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 Mismatch repair cancer syndrome 2 Lynch syndrome 1 Muir-Torré syndrome 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.2515C>G (p.His839Asp)	SNV Germline	Chr2:47480752	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA10578009	rs_876659466	5 SubmittersRCV000218052 RCV000629882 RCV001175264 RCV003997937 RCV005361306
NM_000251.3(MSH2):c.2580G>A (p.Ser860=)	SNV Germline	Chr2:47480817	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Condition: not provided not specified Lynch syndrome MSH2-related disorder Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA036718	rs_752428475	12 SubmittersRCV000217383 RCV000229354 RCV001142095 RCV001722191 RCV003330590 RCV003997953 RCV004532792 RCV005361310
NM_000249.4(MLH1):c.1348G>T (p.Asp450Tyr)	SNV Germline	Chr3:37025946	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided MLH1-related disorder Lynch syndrome Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1	Criteria Provided Conflicting Classifications	CA028262	rs_752622244	8 SubmittersRCV000216865 RCV000230653 RCV001770179 RCV004748665 RCV003997928 RCV005396719
NM_000249.4(MLH1):c.1451A>G (p.Asp484Gly)	SNV Germline	Chr3:37028825	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms not specified Muir-Torré syndrome Lynch syndrome MLH1-related disorder Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA10578251	rs_876659795	13 SubmittersRCV000213760 RCV000522050 RCV000560187 RCV003226256 RCV005361319 RCV003997978 RCV004748666 RCV005246839
NM_000249.4(MLH1):c.1698T>C (p.Tyr566=)	SNV Germline	Chr3:37042298	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA10578260	rs_876658915	9 SubmittersRCV000220192 RCV000287269 RCV000925925 RCV001668387 RCV004806222 RCV005365153
NM_000251.3(MSH2):c.211+9C>A	SNV Germline	Chr2:47403411	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome not specified Lynch syndrome 1 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA034025	rs_2303426	5 SubmittersRCV000230066 RCV000580355 RCV000614752 RCV005246884 RCV005361390
NM_000251.3(MSH2):c.431C>G (p.Ser144Cys)	SNV Germline	Chr2:47410158	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA10581996	rs_878853818	4 SubmittersRCV001305761 RCV001525207 RCV005361391
NM_000251.3(MSH2):c.843A>T (p.Ser281=)	SNV Germline	Chr2:47414319	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms not specified Hereditary cancer-predisposing syndrome Lynch syndrome 1 Condition: not provided Lynch syndrome MSH2-related disorder Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA040882	rs_150197753	14 SubmittersRCV000232025 RCV000422592 RCV000573521 RCV000986654 RCV001705241 RCV003998767 RCV004541371 RCV005396746
NM_000251.3(MSH2):c.1077-7A>G	SNV Germline	Chr2:47429735	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms not specified Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome MSH2-related disorder Muir-Torré syndrome Lynch syndrome 1	Criteria Provided Conflicting Classifications	CA026935	rs_370807334	11 SubmittersRCV000232807 RCV000417988 RCV003998749 RCV001705240 RCV002258835 RCV004541370 RCV005361388 RCV005246879
NM_000251.3(MSH2):c.1378A>G (p.Met460Val)	SNV Germline	Chr2:47445649	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 1 Breast and/or ovarian cancer Lynch syndrome Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA028135	rs_575905950	10 SubmittersRCV000225970 RCV000573569 RCV000985795 RCV003338475 RCV003150132 RCV003998755 RCV005361389
NM_000251.3(MSH2):c.2699C>G (p.Ser900Ter)	SNV Germline	Chr2:47482843	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10582029	rs_878853814	3 SubmittersRCV001305492 RCV005025381 RCV005365179
NM_000249.4(MLH1):c.226G>A (p.Val76Ile)	SNV Germline	Chr3:37000973	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 Malignant tumor of breast Breast and/or ovarian cancer not specified Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome	Criteria Provided Conflicting Classifications	CA10582156	rs_878853788	12 SubmittersRCV000233829 RCV000485354 RCV000568460 RCV000765730 RCV001358259 RCV001798730 RCV001800589 RCV003463647 RCV003998742
NM_000249.4(MLH1):c.318C>T (p.Ser106=)	SNV Germline	Chr3:37004412	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA10582157	rs_63750297	6 SubmittersRCV000561338 RCV001469190 RCV003998743 RCV005246874 RCV005361385
NM_000249.4(MLH1):c.928A>G (p.Thr310Ala)	SNV Germline	Chr3:37020353	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided not specified Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA039074	rs_779581111	11 SubmittersRCV000234748 RCV000581030 RCV000759816 RCV000780417 RCV001147025 RCV003998746 RCV005025380
NM_000251.3(MSH2):c.2224G>A (p.Asp742Asn)	SNV Germline	Chr2:47478285	Conflicting classifications of pathogenicity	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1	Criteria Provided Conflicting Classifications	CA10584222	rs_879254183	7 SubmittersRCV000236064 RCV000556812 RCV000564620 RCV003998917 RCV005365200 RCV003469187
NM_000249.4(MLH1):c.2070C>T (p.Tyr690=)	SNV Germline	Chr3:37048984	Conflicting classifications of pathogenicity	Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms MLH1-related disorder Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA032561	rs_550890395	9 SubmittersRCV000382809 RCV000524273 RCV000571723 RCV001088398 RCV003969994 RCV005355664
NM_000251.3(MSH2):c.-9G>A	SNV Germline	Chr2:47403183	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA16604252	rs_547444746	5 SubmittersRCV000444608 RCV000586531 RCV000580503 RCV001865336 RCV005355735
NM_000251.3(MSH2):c.668T>C (p.Leu223Pro)	SNV Germline	Chr2:47412436	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1	Criteria Provided Conflicting Classifications	CA16610792	rs_1060501992	7 SubmittersRCV000473169 RCV000571885 RCV001526843 RCV004000772 RCV005398618 RCV005600929
NM_000251.3(MSH2):c.439G>A (p.Val147Ile)	SNV Germline	Chr2:47410166	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome Lynch syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA038750	rs_773125415	9 SubmittersRCV000458857 RCV000568213 RCV000759835 RCV004000775 RCV003449128 RCV005398619
NM_000251.3(MSH2):c.726C>G (p.Asn242Lys)	SNV Germline	Chr2:47412494	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms 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	CA16611006	rs_748427458	8 SubmittersRCV000457050 RCV000775712 RCV000519119 RCV004568017 RCV004806311 RCV005027512
NM_000251.3(MSH2):c.2321T>C (p.Ile774Thr)	SNV Germline	Chr2:47478382	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA16611051	rs_878853811	11 SubmittersRCV000473566 RCV000761089 RCV001015184 RCV001284505 RCV003315429 RCV005027511
NM_000249.4(MLH1):c.1331A>G (p.Asn444Ser)	SNV Germline	Chr3:37025929	Conflicting classifications of pathogenicity	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA028235	rs_763189331	8 SubmittersRCV000587089 RCV001088444 RCV001190846 RCV004002034 RCV005247065 RCV005355875
NM_000249.4(MLH1):c.1667+4A>G	SNV Germline	Chr3:37040298	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1	Criteria Provided Conflicting Classifications	CA16611233	rs_983986337	10 SubmittersRCV000464057 RCV001354080 RCV000777682 RCV002254696 RCV004000655 RCV005033966
NM_000249.4(MLH1):c.2020G>A (p.Glu674Lys)	SNV Germline	Chr3:37048934	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome MLH1-related disorder Malignant tumor of breast Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Lynch syndrome Muir-Torré syndrome Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA032265	rs_755577490	9 SubmittersRCV000456564 RCV001189202 RCV003409613 RCV001354280 RCV004022567 RCV005230373 RCV004000665 RCV005033967
NM_000249.4(MLH1):c.1457C>T (p.Ser486Phe)	SNV Germline	Chr3:37028831	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Ovarian cancer Lynch syndrome Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA028856	rs_532873141	9 SubmittersRCV000460169 RCV000574118 RCV000481335 RCV003153588 RCV004000656 RCV005355793 RCV005600914
NM_000249.4(MLH1):c.1554T>C (p.His518=)	SNV Germline	Chr3:37028928	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA16611265	rs_1060504010	5 SubmittersRCV001443027 RCV002402315 RCV003478003 RCV005355876 RCV005247066
NM_000249.4(MLH1):c.652T>C (p.Ser218Pro)	SNV Germline	Chr3:37012074	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 not specified Lynch syndrome Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA037512	rs_750650349	8 SubmittersRCV000564654 RCV000475778 RCV000987155 RCV001280631 RCV004000657 RCV005365304
NM_000249.4(MLH1):c.2135G>T (p.Trp712Leu)	SNV Germline	Chr3:37050517	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA033478	rs_63750561	5 SubmittersRCV001180389 RCV003153597 RCV005398572 RCV005426015
NM_000251.3(MSH2):c.100G>A (p.Val34Met)	SNV Germline	Chr2:47403291	Conflicting classifications of pathogenicity	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA16617548	rs_1064793541	7 SubmittersRCV000484906 RCV001037181 RCV001016981 RCV004002277 RCV005365347
NM_000251.3(MSH2):c.103C>G (p.Arg35Gly)	SNV Germline	Chr2:47403294	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome	Criteria Provided Conflicting Classifications	CA16617549	rs_1060502034	6 SubmittersRCV000483915 RCV000579393 RCV000629871 RCV005398701 RCV004806367
NM_000251.3(MSH2):c.440T>G (p.Val147Gly)	SNV Germline	Chr2:47410167	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms MSH2-related disorder Muir-Torré syndrome Lynch syndrome	Criteria Provided Conflicting Classifications	CA038774	rs_760851623	9 SubmittersRCV000588981 RCV000771216 RCV001051880 RCV004535515 RCV005355946 RCV004003339
NM_000251.3(MSH2):c.942+3A>G	SNV Germline	Chr2:47414421	Conflicting classifications of pathogenicity	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colon cancer	Criteria Provided Conflicting Classifications	CA16617570	rs_193922376	8 SubmittersRCV000479341 RCV000530947 RCV001019334 RCV003463979 RCV005355921 RCV003387853
NM_000251.3(MSH2):c.1315C>G (p.Pro439Ala)	SNV Germline	Chr2:47445586	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA16617576	rs_786203116	7 SubmittersRCV001851231 RCV001030709 RCV000487340 RCV001010926 RCV004003373 RCV005027555
NM_000251.3(MSH2):c.1910C>G (p.Ser637Cys)	SNV Germline	Chr2:47475175	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA16617596	rs_1064795992	5 SubmittersRCV001013660 RCV000482793 RCV000816301 RCV005027557
NM_000249.4(MLH1):c.-11C>T	SNV Germline	Chr3:36993537	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Malignant tumor of breast Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome not specified Inherited MMR deficiency (Lynch syndrome)	Criteria Provided Conflicting Classifications	CA16617877	rs_776898290	11 SubmittersRCV000588982 RCV000774690 RCV001057484 RCV003464015 RCV001357773 RCV002063755 RCV004596227 RCV004691784
NM_000249.4(MLH1):c.188A>G (p.Asp63Gly)	SNV Germline	Chr3:36996690	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms MLH1-related disorder Hereditary nonpolyposis colon cancer Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA16617887	rs_1064795693	7 SubmittersRCV000478087 RCV000570212 RCV001070471 RCV004722822 RCV005239069 RCV005365357
NM_000249.4(MLH1):c.563C>T (p.Ala188Val)	SNV Germline	Chr3:37011837	Conflicting classifications of pathogenicity	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 not specified Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome	Criteria Provided Conflicting Classifications	CA036814	rs_777971431	11 SubmittersRCV000484514 RCV000542526 RCV000574007 RCV003476160 RCV004526688 RCV005034014 RCV004003315
NM_000249.4(MLH1):c.2054C>T (p.Ser685Phe)	SNV Germline	Chr3:37048968	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer	Criteria Provided Conflicting Classifications	CA16617937	rs_1064796101	6 SubmittersRCV000629826 RCV000487318 RCV005355965 RCV002420236 RCV003317238
NM_000251.3(MSH2):c.940C>T (p.Gln314Ter)	SNV Germline	Chr2:47414416	Pathogenic	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Condition: not provided Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA346733020	rs_1114167845	6 SubmittersRCV000491147 RCV000693833 RCV003449366 RCV004701554 RCV005355987
NM_000251.3(MSH2):c.2228C>T (p.Ser743Leu)	SNV Germline/somatic	Chr2:47478289	Conflicting classifications of pathogenicity	not specified Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch-like syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA346729718	rs_63751155	6 SubmittersRCV000507559 RCV003449448 RCV001219215 RCV001250042 RCV002431464 RCV005356029
NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn)	SNV Germline/somatic	Chr3:37040294	Pathogenic/Likely pathogenic	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch-like syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 1 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	CA352060789	rs_63751596	8 SubmittersRCV000520479 RCV001046224 RCV001249931 RCV001012628 RCV001093684 RCV003470652 RCV005398752
NM_000251.3(MSH2):c.70C>G (p.Gln24Glu)	SNV Germline	Chr2:47403261	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA346728646	rs_587779976	4 SubmittersRCV000560638 RCV000777268 RCV005398773
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 Lynch syndrome 1 Mismatch repair cancer syndrome 2 Muir-Torré syndrome Condition: not provided Lynch syndrome	Criteria Provided Conflicting Classifications	CA46660139	rs_267607954	6 SubmittersRCV000556329 RCV000567928 RCV002476086 RCV003478112 RCV004003731
NM_000251.3(MSH2):c.1892G>A (p.Arg631Lys)	SNV Germline	Chr2:47475157	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 1 Mismatch repair cancer syndrome 2 Muir-Torré syndrome Lynch syndrome Lynch syndrome 1	Criteria Provided Conflicting Classifications	CA346728562	rs_1361816581	8 SubmittersRCV000547904 RCV000568306 RCV001572130 RCV002481753 RCV004003740 RCV004568718
NM_000249.4(MLH1):c.46G>C (p.Val16Leu)	SNV Germline	Chr3:36993593	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome not specified Condition: not provided Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA036168	rs_776643257	8 SubmittersRCV000554111 RCV000565039 RCV001821471 RCV003156248 RCV004003722 RCV004568713 RCV004787841
NM_000249.4(MLH1):c.844G>A (p.Ala282Thr)	SNV Germline	Chr3:37017559	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA038533	rs_774689817	5 SubmittersRCV000534514 RCV000580834 RCV000764483 RCV001355010
NM_000249.4(MLH1):c.670G>A (p.Val224Ile)	SNV Germline	Chr3:37012092	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome	Criteria Provided Conflicting Classifications	CA352042844	rs_1553644251	7 SubmittersRCV000545737 RCV000583889 RCV001553068 RCV003330748 RCV003470709 RCV004003724
NM_000251.3(MSH2):c.464T>C (p.Val155Ala)	SNV Germline	Chr2:47410191	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 1 Lynch syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 1 Lynch syndrome	Criteria Provided Conflicting Classifications	CA346730530	rs_876658188	7 SubmittersRCV000566316 RCV000764422 RCV000808811 RCV001551071 RCV003459360 RCV004001041
NM_000251.3(MSH2):c.1601G>T (p.Arg534Leu)	SNV Germline	Chr2:47466748	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Ovarian cancer Lynch syndrome Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA029754	rs_587778523	8 SubmittersRCV000567489 RCV000662462 RCV001039308 RCV003153734 RCV004000846 RCV005367407
NM_000251.3(MSH2):c.1229G>T (p.Gly410Val)	SNV Germline	Chr2:47429894	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA346734113	rs_1354753753	4 SubmittersRCV000567171 RCV000812381 RCV004001031 RCV005357689
NM_000251.3(MSH2):c.1661G>A (p.Ser554Asn)	SNV Germline	Chr2:47466808	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA030195	rs_63750597	5 SubmittersRCV000570315 RCV000802215 RCV001310202 RCV002497211
NM_000251.3(MSH2):c.992A>G (p.Asn331Ser)	SNV Germline	Chr2:47416345	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1 Muir-Torré syndrome not specified	Criteria Provided Conflicting Classifications	CA042047	rs_779673318	7 SubmittersRCV000572560 RCV000629913 RCV000708829 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 Lynch syndrome 1 Mismatch repair cancer syndrome 2 Muir-Torré syndrome Lynch syndrome	Criteria Provided Conflicting Classifications	CA346726967	rs_1553365763	4 SubmittersRCV000573636 RCV001043758 RCV002497215 RCV004001118
NM_000251.3(MSH2):c.1626A>G (p.Val542=)	SNV Germline	Chr2:47466773	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Condition: not provided Lynch syndrome 1 Lynch syndrome 1 Mismatch repair cancer syndrome 2 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA425965615	rs_1553366635	7 SubmittersRCV000574526 RCV000630249 RCV004000848 RCV005243300 RCV005248230 RCV005398877
NM_000251.3(MSH2):c.1619G>C (p.Ser540Thr)	SNV Germline	Chr2:47466766	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Lynch syndrome 1 Mismatch repair cancer syndrome 2 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA346727934	rs_1553366622	4 SubmittersRCV000566684 RCV000795919 RCV003465283 RCV005398923
NM_000251.3(MSH2):c.1217G>T (p.Arg406Leu)	SNV Germline	Chr2:47429882	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome	Criteria Provided Conflicting Classifications	CA346734041	rs_146567853	5 SubmittersRCV000580175 RCV000696098 RCV005398926 RCV004001255
NM_000251.3(MSH2):c.2649T>G (p.Ile883Met)	SNV Germline	Chr2:47482793	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome Muir-Torré syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA037199	rs_768983827	7 SubmittersRCV000580301 RCV001193286 RCV000629841 RCV002245022 RCV004001259 RCV005398927
NM_000249.4(MLH1):c.978G>A (p.Val326=)	SNV Germline	Chr3:37020403	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA433077631	rs_1553648104	5 SubmittersRCV000584596 RCV002061830 RCV005392130 RCV005248374
NM_000249.4(MLH1):c.116+14C>G	SNV Germline	Chr3:36993677	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Carcinoma of colon Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA027279	rs_773103242	4 SubmittersRCV000612716 RCV000771294 RCV001356919 RCV002066700 RCV005367455
NM_000251.3(MSH2):c.2621A>G (p.Tyr874Cys)	SNV Germline	Chr2:47480858	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome not specified Condition: not provided Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2 MSH2-related disorder	Criteria Provided Conflicting Classifications	CA036876	rs_775390721	8 SubmittersRCV000630014 RCV000776212 RCV000781567 RCV003478344 RCV005392197 RCV004533306
NM_000251.3(MSH2):c.1810G>A (p.Ala604Thr)	SNV Germline	Chr2:47475075	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA346728336	rs_1553368568	6 SubmittersRCV000629723 RCV004002772 RCV001013211 RCV001731820 RCV005357831
NM_000249.4(MLH1):c.1051G>A (p.Gly351Arg)	SNV Germline	Chr3:37025649	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome	Criteria Provided Conflicting Classifications	CA352052043	rs_1437454428	7 SubmittersRCV000629849 RCV001017137 RCV000985774 RCV002492942 RCV003459491 RCV004002777
NM_000251.3(MSH2):c.2645A>C (p.Lys882Thr)	SNV Germline	Chr2:47482789	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome	Criteria Provided Conflicting Classifications	CA346731362	rs_1284087975	5 SubmittersRCV000691943 RCV001525887 RCV005027855 RCV004807090
NM_000251.3(MSH2):c.2326G>A (p.Ala776Thr)	SNV Germline	Chr2:47478387	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346729904	rs_1558521842	3 SubmittersRCV000686668 RCV005357909 RCV002458205
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	CA346728230	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 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA352048326	rs_1553647894	3 SubmittersRCV000703589 RCV000763101 RCV002442522
NM_000251.3(MSH2):c.1071G>A (p.Glu357=)	SNV Germline/somatic	Chr2:47416424	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 1 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA425973309	rs_587781617	5 SubmittersRCV000758661 RCV003768276 RCV004027162 RCV005249033 RCV005367534
NM_000251.3(MSH2):c.2095T>C (p.Ser699Pro)	SNV Germline/somatic	Chr2:47476456	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA346729226	rs_1428704795	3 SubmittersRCV000758655 RCV004027161 RCV005392353
NM_000249.4(MLH1):c.790+5G>A	SNV Germline/somatic	Chr3:37014549	Pathogenic/Likely pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome	Criteria Provided Multiple Submitters No Conflicts	CA645534150	rs_267607771	4 SubmittersRCV000758644 RCV003453553 RCV004027160 RCV005357985
NM_000251.3(MSH2):c.2268C>G (p.Thr756=)	SNV Germline	Chr2:47478329	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 1 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA426120149	rs_1404389752	7 SubmittersRCV000776917 RCV001054859 RCV003456428 RCV005249064 RCV005367547
NM_000251.3(MSH2):c.2083G>A (p.Val695Met)	SNV Germline	Chr2:47476444	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2	Reviewed By Expert Panel	CA346729205	rs_772491283	5 SubmittersRCV000781997 RCV001014369 RCV004789180 RCV005092336 RCV005359523
NM_000251.3(MSH2):c.198C>A (p.Tyr66Ter)	SNV Germline/somatic	Chr2:47403389	Pathogenic	Hereditary nonpolyposis colorectal neoplasms Lynch-like syndrome Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 1 Lynch syndrome 1 Mismatch repair cancer syndrome 2 Muir-Torré syndrome	Criteria Provided Multiple Submitters No Conflicts	CA346729043	rs_730881784	6 SubmittersRCV000799705 RCV001250031 RCV001013932 RCV005623369 RCV003453663 RCV005367566
NM_000249.4(MLH1):c.2050T>G (p.Tyr684Asp)	SNV Germline	Chr3:37048964	Likely pathogenic	Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Multiple Submitters No Conflicts	CA352068119	rs_1386031101	2 SubmittersRCV000821078 RCV005036215
NM_000249.4(MLH1):c.2070C>G (p.Tyr690Ter)	SNV Germline	Chr3:37048984	Pathogenic/Likely pathogenic	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided 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	CA352068231	rs_550890395	5 SubmittersRCV000796222 RCV001014284 RCV001269507 RCV002507374 RCV003453648
NM_000251.3(MSH2):c.1635G>A (p.Gln545=)	SNV Germline	Chr2:47466782	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 1 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA425965626	rs_1558511163	4 SubmittersRCV000866579 RCV002390773 RCV005249163 RCV005359627
NM_000251.3(MSH2):c.177G>C (p.Lys59Asn)	SNV Germline	Chr2:47403368	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA346729001	rs_1449905909	4 SubmittersRCV001013128 RCV001312301 RCV005029571
NM_000251.3(MSH2):c.809T>C (p.Leu270Pro)	SNV Germline	Chr2:47414285	Pathogenic/Likely pathogenic	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 1 Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA346732763	rs_1573451078	4 SubmittersRCV001066735 RCV001027174 RCV003455140 RCV005394651
NM_000251.3(MSH2):c.1276G>C (p.Gly426Arg)	SNV Germline	Chr2:47429941	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA346734314	rs_879254234	5 SubmittersRCV001010702 RCV003336230 RCV003594068 RCV005367667
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 Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1	Criteria Provided Conflicting Classifications	CA346729172	rs_914610419	4 SubmittersRCV001014220 RCV001061882 RCV002481821 RCV004569928
NM_000251.3(MSH2):c.942+1G>A	SNV Germline	Chr2:47414419	Pathogenic	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA346733027	rs_587779193	4 SubmittersRCV001019333 RCV001210828 RCV003455107 RCV005359774
NM_000251.3(MSH2):c.190A>G (p.Ile64Val)	SNV Germline	Chr2:47403381	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome not specified Lynch syndrome Lynch syndrome 1 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA346729023	rs_1166747167	7 SubmittersRCV001062343 RCV001806007 RCV002268425 RCV004000125 RCV003467816 RCV005359833
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 Mismatch repair cancer syndrome 2 Muir-Torré syndrome Lynch syndrome 1 Lynch syndrome 1	Criteria Provided Conflicting Classifications	CA346728089	rs_63751054	6 SubmittersRCV001062181 RCV001183388 RCV004000124 RCV002479368 RCV004570256
NM_000251.3(MSH2):c.338A>G (p.Lys113Arg)	SNV Germline	Chr2:47408527	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA346730031	rs_1672561938	4 SubmittersRCV001184619 RCV001876145 RCV005359910
NM_000251.3(MSH2):c.1259C>T (p.Ala420Val)	SNV Germline	Chr2:47429924	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA346734276	rs_1673951633	3 SubmittersRCV001205969 RCV002411758 RCV005359937
NM_000249.4(MLH1):c.589-1G>A	SNV Germline	Chr3:37012010	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 Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Multiple Submitters No Conflicts	CA352042282	rs_587779027	5 SubmittersRCV001210948 RCV002497722 RCV002356902 RCV003449664
NM_000251.3(MSH2):c.211+1G>C	SNV Germline	Chr2:47403403	Pathogenic	Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Lynch syndrome 1 Lynch syndrome 1 Mismatch repair cancer syndrome 2 Muir-Torré syndrome	Criteria Provided Multiple Submitters No Conflicts	CA346729067	rs_1114167883	4 SubmittersRCV001241243 RCV001806078 RCV003449751 RCV005359988
NM_000249.4(MLH1):c.553G>A (p.Val185Ile)	SNV Germline	Chr3:37011827	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA352041896	rs_63750012	3 SubmittersRCV001347505 RCV002493790 RCV003169700
NM_000251.3(MSH2):c.933C>A (p.Asn311Lys)	SNV Germline	Chr2:47414409	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA346733005	rs_1060504424	3 SubmittersRCV001806154 RCV001369959 RCV005394993
NM_000249.4(MLH1):c.381-5A>G	SNV Germline	Chr3:37006986	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Breast and/or ovarian cancer Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA2499216678	rs_1060504016	4 SubmittersRCV001439646 RCV001799084 RCV005246022 RCV005361611
NM_000249.4(MLH1):c.157G>T (p.Glu53Ter)	SNV Unknown	Chr3:36996659	Pathogenic	Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Single Submitter	CA72786636	rs_63751199	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	CA346731152	rs_2104441416	2 SubmittersRCV001809176 RCV002440888
NM_000249.4(MLH1):c.2146G>T (p.Val716Leu)	SNV Germline	Chr3:37050528	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA033554	rs_35831931	3 SubmittersRCV002046121 RCV002425435 RCV005397284
NM_000251.3(MSH2):c.2707A>T (p.Asn903Tyr)	SNV Germline	Chr2:47482851	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA037273	rs_748318462	3 SubmittersRCV001963445 RCV002425334 RCV005370084
NM_000251.3(MSH2):c.793-2A>T	SNV Germline	Chr2:47414267	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Lynch syndrome 1 Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA346732733	rs_267607933	3 SubmittersRCV002416800 RCV003454204 RCV005356110
NM_000249.4(MLH1):c.887T>A (p.Leu296Ter)	SNV Germline	Chr3:37020312	Pathogenic	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA352048354	rs_63750547	4 SubmittersRCV002375977 RCV003103537 RCV003454222 RCV005397406
NM_000249.4(MLH1):c.1667+1G>T	SNV Germline	Chr3:37040295	Pathogenic	Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Multiple Submitters No Conflicts	CA352060813	rs_1434898623	3 SubmittersRCV002403902 RCV003454267 RCV005356117
NM_000251.3(MSH2):c.1739A>C (p.Glu580Ala)	SNV Germline	Chr2:47471042	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA346728198	rs_2528833324	3 SubmittersRCV002399288 RCV005097717 RCV005356118
NM_000251.3(MSH2):c.1072G>T (p.Glu358Ter)	SNV Germline	Chr2:47416425	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA346733274	rs_1208014123	3 SubmittersRCV002423831 RCV003320892 RCV005032266
NM_000251.3(MSH2):c.1757C>A (p.Ser586Ter)	SNV Germline	Chr2:47471060	Pathogenic	Lynch syndrome 1 Lynch syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colorectal neoplasms	Criteria Provided Multiple Submitters No Conflicts	CA346728235	rs_1114167854	3 SubmittersRCV003455763 RCV003330111 RCV003112120
NM_000251.3(MSH2):c.2599G>T (p.Glu867Ter)	SNV Germline	Chr2:47480836	Pathogenic	Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA346731076	rs_2104440647	3 SubmittersRCV002635267 RCV003455555 RCV005370257
NM_000249.4(MLH1):c.1732-5C>G	SNV Germline	Chr3:37047514	Conflicting classifications of pathogenicity	Muir-Torré syndrome Hereditary nonpolyposis colorectal neoplasms	Criteria Provided Conflicting Classifications	CA2697550790	rs_587778941	2 SubmittersRCV005356463 RCV003595182
NM_000249.4(MLH1):c.331G>T (p.Ala111Ser)	SNV Germline	Chr3:37004425	Likely pathogenic	Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005024609

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

SNV
Germline

Chr2:47429881

Pathogenic

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

Reviewed By Expert Panel

CA017519

rs_63751108

26 SubmittersRCV000001825 RCV000030238 RCV000524334 RCV000162489 RCV000202291 RCV000677885 RCV000763491 RCV003162204

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

SNV
Germline

Chr2:47475066

Pathogenic

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

Reviewed By Expert Panel

CA019344

rs_63750047

10 SubmittersRCV000001828 RCV000076290 RCV000491732 RCV000809096 RCV000428558 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
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon

Reviewed By Expert Panel

CA019533

rs_63750875

22 SubmittersRCV000030245 RCV000376757 RCV000130428 RCV000202220 RCV000763493 RCV000524366 RCV001353396

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

SNV
Germline/somatic

Chr3:37012098

Pathogenic

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

Reviewed By Expert Panel

CA011496

rs_63751615

24 SubmittersRCV000018616 RCV000075801 RCV000115485 RCV000202205 RCV000524311 RCV001093685 RCV001249951 RCV001267883 RCV003149572 RCV003137535

NM_000249.4(MLH1):c.350C>T (p.Thr117Met)

SNV
Germline/somatic

Chr3:37004444

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Lynch-like syndrome
Endometrial carcinoma
Colon cancer
Inherited MMR deficiency (Lynch syndrome)
Muir-Torré syndrome
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA009872

rs_63750781

30 SubmittersRCV000018626 RCV000075666 RCV000524293 RCV000570680 RCV000144599 RCV000160518 RCV001249927 RCV001353627 RCV003229801 RCV004584176 RCV004795924

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

SNV
Germline

Chr3:37048955

Pathogenic

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

Reviewed By Expert Panel

CA008304

rs_63750217

26 SubmittersRCV000018632 RCV000075495 RCV000202172 RCV000213700 RCV000524270 RCV000519240 RCV000763105 RCV001328323 RCV002288511 RCV005251042

NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)

SNV
Germline

Chr3:37017508

Pathogenic

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

Reviewed By Expert Panel

CA012394

rs_63751194

25 SubmittersRCV000022502 RCV000034802 RCV000075872 RCV000220712 RCV000524317 RCV000677879 RCV001093673 RCV005025076

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

SNV
Germline/somatic

Chr3:37025979

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
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
Lynch-like syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA005183

rs_63750540

18 SubmittersRCV000132422 RCV000030213 RCV000202201 RCV000659871 RCV000763102 RCV000524235 RCV001249929 RCV001804748

NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu)

SNV
Germline

Chr3:37050595

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009110

rs_148317871

14 SubmittersRCV000030221 RCV000160545 RCV000411992 RCV000524281 RCV000573289 RCV000767194 RCV005357160

NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter)

SNV
Germline

Chr2:47416383

Pathogenic

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

Reviewed By Expert Panel

CA016912

rs_63750245

8 SubmittersRCV000030234 RCV000759091 RCV001009753 RCV001224622 RCV005394174 RCV003450651

NM_000251.3(MSH2):c.421A>G (p.Met141Val)

SNV
Germline

Chr2:47410148

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021148

rs_193922374

8 SubmittersRCV000030254 RCV000212584 RCV000115531 RCV001079015 RCV005420519 RCV005357161

NM_000251.3(MSH2):c.942+3A>T

SNV
Germline/somatic

Chr2:47414421

Pathogenic

Lynch syndrome 1
Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Carcinoma of colon
Hereditary nonpolyposis colon cancer
Breast carcinoma
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome
MSH2-related disorder

Reviewed By Expert Panel

CA022585

rs_193922376

33 SubmittersRCV000001844 RCV000030256 RCV000115549 RCV000201997 RCV000524424 RCV001249912 RCV001353565 RCV001731319 RCV001579303 RCV005025083 RCV004734535

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

SNV
Germline

Chr3:37025764

Conflicting classifications of pathogenicity

not specified
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
Hereditary nonpolyposis colorectal neoplasms
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA004569

rs_63750361

19 SubmittersRCV000221418 RCV000034538 RCV000132154 RCV000412195 RCV000764491 RCV001086754 RCV003914904

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

SNV
Germline

Chr2:47471051

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA019161

rs_201118107

18 SubmittersRCV000034553 RCV000115510 RCV000148636 RCV000076263 RCV000765667 RCV001079601 RCV002265576 RCV001354468 RCV005246597 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
Colorectal cancer, non-polyposis
Lynch syndrome
not specified
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019304

rs_41295288

24 SubmittersRCV000034554 RCV000115511 RCV000148641 RCV000076286 RCV000200985 RCV000659882 RCV001081309 RCV003149607 RCV000765668

NM_000251.3(MSH2):c.1837A>C (p.Asn613His)

SNV
Germline

Chr2:47475102

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA019422

rs_200147804

6 SubmittersRCV000034555 RCV000705544 RCV000771463 RCV004806020 RCV005394197

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

SNV
Germline

Chr3:37000965

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA009060

rs_397514684

5 SubmittersRCV000213759 RCV000035016 RCV003137557 RCV003335062 RCV003153327

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

SNV
Germline

Chr3:37020438

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA004051

rs_63751467

20 SubmittersRCV000148621 RCV000128912 RCV000524219 RCV000656860 RCV000220791 RCV000764485 RCV004700374 RCV001356843 RCV003997106 RCV003483462 RCV004748551 RCV005246613

NM_000249.4(MLH1):c.1038+1G>C

SNV
Germline/somatic

Chr3:37020464

Likely pathogenic

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

Reviewed By Expert Panel

CA004088

rs_267607816

6 SubmittersRCV000075082 RCV001249908 RCV001093692 RCV003450998 RCV005357454 RCV002514334

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

SNV
Germline

Chr3:37025751

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA004503

rs_63750760

16 SubmittersRCV000075124 RCV000202088 RCV000217569 RCV000524225 RCV000490290 RCV001030628 RCV000656862 RCV000764489 RCV003149731 RCV003492407 RCV005621869

NM_000249.4(MLH1):c.1171C>T (p.Gln391Ter)

SNV
Germline

Chr3:37025769

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA004606

rs_587778894

5 SubmittersRCV000075144 RCV001034673 RCV002288566 RCV005357457

NM_000249.4(MLH1):c.1207C>T (p.Pro403Ser)

SNV
Germline

Chr3:37025805

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA004711

rs_587778897

6 SubmittersRCV000774704 RCV001529817 RCV001067467 RCV005357459

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
not specified
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Breast and/or ovarian cancer
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA005085

rs_63750527

20 SubmittersRCV000115458 RCV000410484 RCV000200984 RCV000587838 RCV000764492 RCV001080105 RCV003148646 RCV003149732 RCV004748553

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

SNV
Germline/somatic

Chr3:37028833

Pathogenic

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

Reviewed By Expert Panel

CA005475

rs_63749795

24 SubmittersRCV000075218 RCV000128870 RCV000255034 RCV000524240 RCV000662808 RCV000763103 RCV001249944 RCV001093677 RCV001353584 RCV004748554

NM_000249.4(MLH1):c.146T>A (p.Val49Glu)

SNV
Germline

Chr3:36996648

Pathogenic

Lynch syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA005522

rs_63750098

2 SubmittersRCV000075223 RCV005394310

NM_000249.4(MLH1):c.1474G>A (p.Ala492Thr)

SNV
Germline

Chr3:37028848

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA005528

rs_63751145

13 SubmittersRCV000075224 RCV000132236 RCV000212538 RCV000524241 RCV003478994 RCV003474657 RCV005394311

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
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA005534

rs_63750226

13 SubmittersRCV000221321 RCV000409591 RCV000483364 RCV000627722 RCV000764493 RCV003997114 RCV002228178

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

SNV
Germline

Chr3:37040185

Likely pathogenic

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

Reviewed By Expert Panel

CA005891

rs_267607837

8 SubmittersRCV000075254 RCV000539690 RCV001012154 RCV001091800 RCV003455989 RCV003448260 RCV005237501

NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln)

SNV
Germline

Chr3:37040192

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA005937

rs_63751630

15 SubmittersRCV000075265 RCV000483197 RCV000662491 RCV000627718 RCV000566893 RCV001778702 RCV005025121

NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala)

SNV
Germline

Chr3:37040260

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA006190

rs_267607840

21 SubmittersRCV000130610 RCV000212542 RCV000606136 RCV000656863 RCV000524244 RCV003935009 RCV003997116 RCV003492409 RCV005025122

NM_000249.4(MLH1):c.1731+5G>A

SNV
Germline

Chr3:37042336

Pathogenic

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

Reviewed By Expert Panel

CA006570

rs_267607850

6 SubmittersRCV000075328 RCV001012888 RCV001201385 RCV005357461 RCV002279946 RCV003451056

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

SNV
Germline

Chr3:37042331

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Colon cancer
Lynch syndrome 1
Hereditary nonpolyposis colon cancer
Breast and/or ovarian cancer
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
MLH1-related disorder

Reviewed By Expert Panel

CA006585

rs_63751657

19 SubmittersRCV000075331 RCV000132025 RCV000202231 RCV000524246 RCV000662481 RCV001580146 RCV001804815 RCV001553748 RCV003492410 RCV002483122 RCV004748555

NM_000249.4(MLH1):c.1877T>C (p.Phe626Ser)

SNV
Germline

Chr3:37047664

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007302

rs_587778952

4 SubmittersRCV000696198 RCV001013501 RCV005394312

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

SNV
Germline

Chr3:37048515

Likely pathogenic

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

Reviewed By Expert Panel

CA007469

rs_267607871

13 SubmittersRCV000075411 RCV000487325 RCV000570210 RCV000524638 RCV000763104 RCV000662785 RCV001844029 RCV005357463

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

Criteria Provided
Conflicting Classifications

CA007619

rs_63750952

19 SubmittersRCV000075426 RCV000217492 RCV000490571 RCV000513562 RCV000708912 RCV005025123 RCV005055564 RCV001262297 RCV002288569 RCV004760365 RCV004748556

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

SNV
Germline

Chr3:37048563

Likely pathogenic

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

Reviewed By Expert Panel

CA007716

rs_63750610

8 SubmittersRCV000477957 RCV000812087 RCV000075433 RCV000221413 RCV001269952 RCV003997119

NM_000249.4(MLH1):c.1976G>A (p.Arg659Gln)

SNV
Germline

Chr3:37048596

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007891

rs_63749900

12 SubmittersRCV000121365 RCV000656865 RCV001081501 RCV000568527 RCV005031554 RCV003997120 RCV005600642

NM_000249.4(MLH1):c.1A>G (p.Met1Val)

SNV
Germline

Chr3:36993548

Pathogenic

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

Reviewed By Expert Panel

CA008127

rs_587778967

5 SubmittersRCV000075477 RCV000629832 RCV005031555 RCV002415530 RCV003477467

NM_000249.4(MLH1):c.2040C>T (p.Cys680=)

SNV
Germline/somatic

Chr3:37048954

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008297

rs_63749867

9 SubmittersRCV000075494 RCV000567661 RCV000541158 RCV000662499 RCV001711130 RCV005357465

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

SNV
Germline

Chr3:37048956

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA008313

rs_63750864

6 SubmittersRCV000698693 RCV000213632 RCV000764497 RCV002415533 RCV005222739

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

SNV
Germline

Chr3:37048973

Pathogenic

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

Reviewed By Expert Panel

CA008336

rs_63751275

24 SubmittersRCV000075499 RCV000215428 RCV000481137 RCV000411954 RCV000524272 RCV000763106 RCV001093679 RCV001356525 RCV003915039

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

SNV
Germline/somatic

Chr3:37000952

Likely pathogenic

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

Reviewed By Expert Panel

CA008526

rs_267607720

8 SubmittersRCV000160554 RCV000075517 RCV000562969 RCV000524274 RCV000763098 RCV003451102

NM_000249.4(MLH1):c.2135G>A (p.Trp712Ter)

SNV
Germline

Chr3:37050517

Pathogenic

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

Reviewed By Expert Panel

CA008833

rs_63750561

12 SubmittersRCV000202047 RCV000581002 RCV000075550 RCV000686456 RCV001310200 RCV005394315 RCV003451108

NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter)

SNV
Germline

Chr3:37050523

Pathogenic

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

Reviewed By Expert Panel

CA008850

rs_63751022

10 SubmittersRCV000075553 RCV000165669 RCV001044497 RCV002280100 RCV000144606 RCV005357468 RCV003451110

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
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
MLH1-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008958

rs_587778986

13 SubmittersRCV000160544 RCV000212548 RCV000409675 RCV000524278 RCV000781540 RCV002483123 RCV003390768 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
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA009007

rs_566928243

17 SubmittersRCV000075568 RCV000115473 RCV000212549 RCV000586779 RCV000764498 RCV001147135 RCV001079417

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

SNV
Germline

Chr3:37001058

Pathogenic

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

Reviewed By Expert Panel

CA009684

rs_267607735

10 SubmittersRCV000202186 RCV000022504 RCV000075634 RCV001018363 RCV001045822 RCV000763099 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
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009850

rs_63750465

10 SubmittersRCV000115481 RCV000235173 RCV000410226 RCV000524292 RCV000764481 RCV000780414 RCV003997128

NM_000249.4(MLH1):c.479C>T (p.Ala160Val)

SNV
Germline

Chr3:37008839

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
MLH1-related disorder
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA010656

rs_63749924

10 SubmittersRCV000130760 RCV000524302 RCV000522486 RCV005420541 RCV003997131 RCV004748558 RCV005357473

NM_000249.4(MLH1):c.539T>G (p.Val180Gly)

SNV
Germline

Chr3:37008899

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
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

CA010855

rs_63750102

13 SubmittersRCV000131749 RCV000212519 RCV000411648 RCV000524305 RCV005031556 RCV003320556 RCV003997133

NM_000249.4(MLH1):c.545+3A>G

SNV
Germline/somatic

Chr3:37008908

Pathogenic

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

Reviewed By Expert Panel

CA010914

rs_267607760

16 SubmittersRCV000609647 RCV000564669 RCV001249949 RCV000075749 RCV000215515 RCV001202202 RCV001804822 RCV005406805 RCV005357474

NM_000249.4(MLH1):c.546-1G>A

SNV
Germline

Chr3:37011819

Likely pathogenic

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

Reviewed By Expert Panel

CA010963

rs_587779022

7 SubmittersRCV000075754 RCV002271399 RCV005357475 RCV000482173 RCV001854304 RCV003162487 RCV003452746

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

SNV
Germline

Chr3:37011867

Pathogenic

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

Reviewed By Expert Panel

CA011130

rs_267607768

10 SubmittersRCV000075774 RCV000572458 RCV000627715 RCV003452753 RCV000213543 RCV001255542 RCV000763100

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.778C>T (p.Leu260Phe)

SNV
Germline

Chr3:37014532

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012012

rs_63750642

9 SubmittersRCV000130511 RCV000479043 RCV000705556 RCV004566932 RCV004786356 RCV004806052 RCV005364964

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

SNV
Germline

Chr3:37017505

Pathogenic

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

Reviewed By Expert Panel

CA012277

rs_267607795

7 SubmittersRCV000075860 RCV001183311 RCV001388082 RCV001723644 RCV003452771 RCV002247470

NM_000249.4(MLH1):c.794G>A (p.Arg265His)

SNV
Germline

Chr3:37017509

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012404

rs_63751448

18 SubmittersRCV000131125 RCV000212526 RCV000410210 RCV000524318 RCV001253793 RCV001374504 RCV000656858 RCV004748560 RCV005025124

NM_000249.4(MLH1):c.885-2A>G

SNV
Germline

Chr3:37020308

Likely pathogenic

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

Reviewed By Expert Panel

CA012922

rs_267607805

10 SubmittersRCV000075914 RCV000132040 RCV000481722 RCV000627716 RCV003452786 RCV005357478

NM_000249.4(MLH1):c.911A>G (p.Asp304Gly)

SNV
Germline

Chr3:37020336

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013037

rs_63750993

5 SubmittersRCV000482267 RCV000630091 RCV002371913 RCV005394317 RCV005237506

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

Criteria Provided
Conflicting Classifications

CA013293

rs_63750796

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

NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter)

SNV
Germline

Chr2:47416362

Pathogenic

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

Reviewed By Expert Panel

CA016831

rs_63750778

8 SubmittersRCV000075997 RCV000215536 RCV000153512 RCV001215910 RCV004537286 RCV005357480 RCV003452794

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
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
not specified
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary nonpolyposis colon cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA016975

rs_267607939

18 SubmittersRCV000128932 RCV000148635 RCV000588936 RCV000764423 RCV001844030 RCV000986664 RCV001085377 RCV005357481 RCV002279934 RCV004760366

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

SNV
Germline

Chr2:47416430

Pathogenic

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

Reviewed By Expert Panel

CA017072

rs_267607940

11 SubmittersRCV000076014 RCV000132414 RCV000485147 RCV000541273 RCV000763489 RCV003452798 RCV005364966

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

SNV
Germline/somatic

Chr2:47429812

Pathogenic

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

Reviewed By Expert Panel

CA017356

rs_63749849

24 SubmittersRCV000076049 RCV000202261 RCV000221364 RCV000524330 RCV000576748 RCV000763490 RCV001192613 RCV001249954 RCV001257542 RCV004537287 RCV005237507

NM_000251.3(MSH2):c.1215C>A (p.Tyr405Ter)

SNV
Germline

Chr2:47429880

Pathogenic

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

Reviewed By Expert Panel

CA017512

rs_63751271

4 SubmittersRCV000076063 RCV005364967 RCV002354267

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

SNV
Germline

Chr2:47429882

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017527

rs_146567853

14 SubmittersRCV000132166 RCV000212599 RCV000411777 RCV000781558 RCV000765665 RCV001083003 RCV001798264 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
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Lynch syndrome 1
Hereditary nonpolyposis colon cancer
Condition: not provided

Reviewed By Expert Panel

CA017756

rs_267607950

8 SubmittersRCV000076088 RCV000491760 RCV000707663 RCV002498365 RCV003452816 RCV004700380 RCV003237437

NM_000251.3(MSH2):c.1277-1G>A

SNV
Germline/somatic

Chr2:47445547

Likely pathogenic

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

Reviewed By Expert Panel

CA017815

rs_267607948

5 SubmittersRCV000076097 RCV002371915 RCV003452817 RCV005031557

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

SNV
Germline

Chr2:47403319

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017905

rs_17217723

19 SubmittersRCV000212578 RCV000131211 RCV000409784 RCV000524339 RCV000656872 RCV000764419 RCV001262887 RCV004537289 RCV004700381 RCV005394319 RCV003330424

NM_000251.3(MSH2):c.1386+1G>T

SNV
Germline

Chr2:47445658

Likely pathogenic

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

Reviewed By Expert Panel

CA018142

rs_267607957

8 SubmittersRCV000076139 RCV001723646 RCV002390223 RCV002514350 RCV004796004 RCV003452829

NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys)

SNV
Germline/somatic

Chr2:47466747

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA018706

rs_63750029

12 SubmittersRCV000076204 RCV000410514 RCV000491263 RCV000524349 RCV000588411 RCV001175346 RCV005031558

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

SNV
Germline/somatic

Chr2:47466809

Likely pathogenic

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

Reviewed By Expert Panel

CA018841

rs_267607969

7 SubmittersRCV000076217 RCV000491252 RCV000986676 RCV001070711 RCV002498366

NM_000251.3(MSH2):c.1662-1G>A

SNV
Germline/somatic

Chr2:47470964

Pathogenic

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

Reviewed By Expert Panel

CA018892

rs_267607970

9 SubmittersRCV005031559 RCV000001836 RCV000076224 RCV000491087 RCV001239294 RCV001249923 RCV003452848

NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys)

SNV
Germline

Chr2:47470984

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA018988

rs_63750328

16 SubmittersRCV000410128 RCV000484663 RCV000524354 RCV000568086 RCV001198848 RCV003997152 RCV005394320 RCV005417454

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

SNV
Germline/somatic

Chr2:47475126

Pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Hereditary nonpolyposis colon cancer
Breast carcinoma
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA019461

rs_63750508

20 SubmittersRCV000076305 RCV000602838 RCV000491286 RCV000414448 RCV000763492 RCV000524364 RCV001249915 RCV001328039 RCV001650893 RCV005357487 RCV005055066

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

SNV
Germline

Chr2:47476370

Conflicting classifications of pathogenicity

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 syndrome
Lynch syndrome 1
MSH2-related disorder
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA019790

rs_41294982

12 SubmittersRCV000220086 RCV000483333 RCV000524371 RCV000765672 RCV002265597 RCV003997156 RCV003389040 RCV004734631 RCV005394321

NM_000251.3(MSH2):c.2089T>C (p.Cys697Arg)

SNV
Germline

Chr2:47476450

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
MSH2-related disorder

Reviewed By Expert Panel

CA019984

rs_63750961

7 SubmittersRCV000076384 RCV002228184 RCV002415564 RCV005394322 RCV004537293

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

SNV
Germline/somatic

Chr2:47476492

Pathogenic

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

Reviewed By Expert Panel

CA020107

rs_63750636

26 SubmittersRCV000076405 RCV000129341 RCV000202062 RCV001000186 RCV000524377 RCV001249926 RCV000763494 RCV002272055

NM_000251.3(MSH2):c.2420C>G (p.Thr807Ser)

SNV
Germline

Chr2:47478481

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020570

rs_41295294

3 SubmittersRCV000573758 RCV000627714 RCV005394323

NM_000251.3(MSH2):c.2459-12A>G

SNV
Germline/somatic

Chr2:47480684

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020616

rs_267608012

9 SubmittersRCV000076479 RCV000160620 RCV001015604 RCV001854328 RCV003452913 RCV004586538 RCV005025127

NM_000251.3(MSH2):c.2503A>C (p.Asn835His)

SNV
Germline

Chr2:47480740

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020651

rs_41295296

16 SubmittersRCV000115519 RCV000212621 RCV000410916 RCV000656882 RCV001082618 RCV004734633 RCV003997162 RCV005357489

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

11 SubmittersRCV000076492 RCV000166332 RCV000486446 RCV000765673 RCV000986690 RCV001085048 RCV001354097 RCV003153356 RCV004525868

NM_000251.3(MSH2):c.425C>G (p.Ser142Ter)

SNV
Germline

Chr2:47410152

Pathogenic

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

Reviewed By Expert Panel

CA021151

rs_63750910

8 SubmittersRCV000076598 RCV000519167 RCV001022162 RCV001071576 RCV001797622 RCV003452940 RCV005394327

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

SNV
Germline

Chr2:47410162

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021158

rs_63750124

26 SubmittersRCV000115532 RCV000148628 RCV000212585 RCV000588226 RCV000764421 RCV001085983 RCV000662480 RCV001798267 RCV004528278 RCV001262752 RCV001358588 RCV004806057 RCV005234973

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

SNV
Germline

Chr2:47410211

Pathogenic

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

Reviewed By Expert Panel

CA021199

rs_63750624

13 SubmittersRCV000076608 RCV000491163 RCV000524412 RCV000662882 RCV000985811 RCV001194033 RCV004546430

NM_000251.3(MSH2):c.557A>G (p.Asn186Ser)

SNV
Germline

Chr2:47410284

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA021391

rs_151129360

16 SubmittersRCV000130716 RCV000202264 RCV000411418 RCV000587046 RCV001081828 RCV001798268 RCV005357494

NM_000251.3(MSH2):c.806C>T (p.Ser269Leu)

SNV
Germline

Chr2:47414282

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA022333

rs_63750058

3 SubmittersRCV000822527 RCV002415568 RCV005357496

NM_000251.3(MSH2):c.862C>T (p.Gln288Ter)

SNV
Germline

Chr2:47414338

Pathogenic

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

Reviewed By Expert Panel

CA022450

rs_63750097

9 SubmittersRCV000076738 RCV000528830 RCV000484173 RCV001183048 RCV003452970 RCV005394328

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

SNV
Germline

Chr2:47414344

Pathogenic

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

Reviewed By Expert Panel

CA022458

rs_587779190

7 SubmittersRCV000076740 RCV000165329 RCV000763488 RCV001854340 RCV004689446 RCV003452971

NM_000251.3(MSH2):c.929T>C (p.Leu310Pro)

SNV
Germline

Chr2:47414405

Pathogenic

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

Reviewed By Expert Panel

CA022549

rs_63750640

4 SubmittersRCV000076750 RCV000491370 RCV001052685 RCV005025128

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

SNV
Germline

Chr2:47403288

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA022692

rs_63751107

13 SubmittersRCV000129083 RCV000236043 RCV000656871 RCV000662483 RCV000627734 RCV002483125 RCV003997185 RCV001354855

NM_000251.3(MSH2):c.989T>C (p.Leu330Pro)

SNV
Germline

Chr2:47416342

Pathogenic

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

Reviewed By Expert Panel

CA022706

rs_63750630

4 SubmittersRCV000076775 RCV005357497 RCV001554291 RCV003593904

NM_000249.4(MLH1):c.739T>G (p.Ser247Ala)

SNV
Germline

Chr3:37014493

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011868

rs_63750948

7 SubmittersRCV000114847 RCV000629785 RCV001026384 RCV003997209 RCV005394380 RCV003320096

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

15 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
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2
Breast and/or ovarian cancer
not specified
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA005861

rs_199935667

15 SubmittersRCV000115461 RCV000590226 RCV000758646 RCV001086042 RCV000515436 RCV000663109 RCV003149796 RCV001175375 RCV005364994

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

Criteria Provided
Conflicting Classifications

CA006520

rs_56185292

17 SubmittersRCV000115465 RCV000121362 RCV000226023 RCV000411289 RCV000515241 RCV000656864 RCV003997263

NM_000249.4(MLH1):c.2239C>T (p.Pro747Ser)

SNV
Germline

Chr3:37050621

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009179

rs_587779958

9 SubmittersRCV000115475 RCV000535352 RCV000586644 RCV001420716 RCV003460818 RCV005031606

NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu)

SNV
Germline

Chr2:47429847

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017419

rs_374135434

12 SubmittersRCV000115496 RCV000212598 RCV000477595 RCV000663103 RCV001818271 RCV005394384 RCV003997267

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

SNV
Germline

Chr2:47429903

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017617

rs_587779962

9 SubmittersRCV000115499 RCV000212601 RCV000515341 RCV000532709 RCV003467045 RCV003997269

NM_000251.3(MSH2):c.1582A>C (p.Lys528Gln)

SNV
Germline

Chr2:47466729

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA018669

rs_199744440

9 SubmittersRCV000115503 RCV000463961 RCV000491225 RCV000662996 RCV001354840 RCV003997271 RCV005025177

NM_000251.3(MSH2):c.1601G>A (p.Arg534His)

SNV
Germline

Chr2:47466748

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA018712

rs_587778523

15 SubmittersRCV000121559 RCV000122981 RCV000492001 RCV000662395 RCV000656878 RCV003997272 RCV004734649 RCV005394385

NM_000251.3(MSH2):c.607G>A (p.Gly203Arg)

SNV
Germline

Chr2:47410334

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021564

rs_587779973

9 SubmittersRCV000115536 RCV000221014 RCV000409174 RCV000472250 RCV003997280 RCV005394386

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
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021573

rs_63750574

10 SubmittersRCV000115537 RCV000196378 RCV000215932 RCV000411245 RCV002505033 RCV003997281

NM_000251.3(MSH2):c.70C>T (p.Gln24Ter)

SNV
Germline

Chr2:47403261

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA022076

rs_587779976

9 SubmittersRCV000115541 RCV000772129 RCV002515795 RCV003453042 RCV004017400 RCV003479007 RCV005025178

NM_000249.4(MLH1):c.1709A>G (p.Asn570Ser)

SNV
Germline

Chr3:37042309

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA006451

rs_375853155

13 SubmittersRCV000121361 RCV000160540 RCV000233319 RCV000411716 RCV000586361 RCV004748587 RCV005394420

NM_000251.3(MSH2):c.5C>T (p.Ala2Val)

SNV
Germline

Chr2:47403196

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021548

rs_587778521

14 SubmittersRCV000121557 RCV000168363 RCV000561626 RCV000410801 RCV000512708 RCV005025193 RCV003997346

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

SNV
Germline

Chr2:47408409

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020232

rs_150548839

14 SubmittersRCV000121566 RCV000230947 RCV000409685 RCV000571485 RCV000587188 RCV002477316 RCV003483487 RCV003997350 RCV004734660

NM_000249.4(MLH1):c.1268G>A (p.Arg423Lys)

SNV
Germline

Chr3:37025866

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA004891

rs_370687064

11 SubmittersRCV000131167 RCV000487001 RCV000588087 RCV001085064 RCV000411892 RCV005365013

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

SNV
Germline

Chr2:47403357

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA018954

rs_587779102

9 SubmittersRCV000122982 RCV000657006 RCV000235661 RCV000580136 RCV002477321 RCV003460870 RCV003997405

NM_000251.3(MSH2):c.336C>A (p.Ser112=)

SNV
Germline

Chr2:47408525

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021025

rs_34312619

12 SubmittersRCV000163093 RCV000420474 RCV000662370 RCV000590813 RCV001082839 RCV003997409 RCV005394440

NM_000251.3(MSH2):c.819A>G (p.Val273=)

SNV
Germline

Chr2:47414295

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA022370

rs_146577635

14 SubmittersRCV000160641 RCV000212592 RCV000586418 RCV001139365 RCV001082291 RCV005394441

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

SNV
Germline/somatic

Chr3:37025752

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA004510

rs_63750430

17 SubmittersRCV000128876 RCV000409286 RCV000232561 RCV000484459 RCV000764490 RCV001249936 RCV000657135 RCV003997466

NM_000251.3(MSH2):c.775C>T (p.Pro259Ser)

SNV
Germline

Chr2:47412543

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA022230

rs_587781294

14 SubmittersRCV000235651 RCV000128997 RCV000228319 RCV000759122 RCV001269353 RCV003333736 RCV003997470 RCV004532540 RCV005025205

NM_000249.4(MLH1):c.704A>T (p.Asp235Val)

SNV
Germline

Chr3:37014458

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011774

rs_587781505

12 SubmittersRCV000129480 RCV000529021 RCV001030626 RCV002285268 RCV001290582 RCV003153416 RCV003997505 RCV005420563 RCV005359205

NM_000251.3(MSH2):c.1228G>T (p.Gly410Cys)

SNV
Germline

Chr2:47429893

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017600

rs_587782242

4 SubmittersRCV000130945 RCV001206567 RCV005359250

NM_000251.3(MSH2):c.900G>A (p.Met300Ile)

SNV
Germline

Chr2:47414376

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA022513

rs_587782530

5 SubmittersRCV000131729 RCV000487151 RCV001202065 RCV004806081 RCV005025217

NM_000249.4(MLH1):c.1775G>C (p.Ser592Thr)

SNV
Germline

Chr3:37047562

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA006877

rs_587782621

14 SubmittersRCV000132004 RCV000199682 RCV000524250 RCV000483590 RCV000662692 RCV003407556 RCV004596073 RCV005031644

NM_000249.4(MLH1):c.626A>G (p.Asn209Ser)

SNV
Germline

Chr3:37012048

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011273

rs_150478207

16 SubmittersRCV000132489 RCV000200318 RCV000480315 RCV000662374 RCV001804854 RCV003398776 RCV003998148 RCV005365041

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
Lynch syndrome
Mismatch repair cancer syndrome 2
not specified
Lynch syndrome
MSH2-related disorder
Lynch syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA019583

rs_374840361

14 SubmittersRCV000148637 RCV000160596 RCV000204646 RCV000589876 RCV000765671 RCV003483522 RCV002509245 RCV003998170 RCV004532666 RCV004567167 RCV005359313

NM_000251.3(MSH2):c.2203A>G (p.Ile735Val)

SNV
Germline

Chr2:47476564

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020218

rs_2229061

12 SubmittersRCV000148638 RCV000471467 RCV000411526 RCV000588732 RCV000491584 RCV001175338 RCV005359314 RCV004532667

NM_000251.3(MSH2):c.-9G>C

SNV
Germline

Chr2:47403183

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA022727

rs_547444746

11 SubmittersRCV000160647 RCV000732070 RCV000410517 RCV003584558 RCV005025247 RCV001850270 RCV003998488 RCV004734755

NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)

SNV
Germline

Chr2:47403246

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
MSH2-related disorder
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA021396

rs_141711342

17 SubmittersRCV000160635 RCV000409531 RCV000588459 RCV001255213 RCV001084278 RCV003323295 RCV004528902 RCV005359372 RCV003492654

NM_000251.3(MSH2):c.126C>G (p.Phe42Leu)

SNV
Germline

Chr2:47403317

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017708

rs_730881766

10 SubmittersRCV000160605 RCV000212577 RCV000559519 RCV003998479 RCV004567210 RCV005359368 RCV001192614

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
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021103

rs_730881768

12 SubmittersRCV000197978 RCV000217291 RCV000590606 RCV000662843 RCV000515278 RCV003330516 RCV003998481

NM_000251.3(MSH2):c.544G>T (p.Asp182Tyr)

SNV
Germline

Chr2:47410271

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021347

rs_730881770

6 SubmittersRCV000160614 RCV001348083 RCV001024126 RCV005055651 RCV005025245

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
Mismatch repair cancer syndrome 2
Lynch syndrome
Lynch syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome
not specified

Criteria Provided
Conflicting Classifications

CA021433

rs_141021599

12 SubmittersRCV000233177 RCV000565216 RCV000590509 RCV000410808 RCV003483528 RCV003998484 RCV002478486 RCV001251062

NM_000251.3(MSH2):c.592G>T (p.Glu198Ter)

SNV
Germline

Chr2:47410319

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA021507

rs_587779166

5 SubmittersRCV000491751 RCV001212954 RCV003453269 RCV005031675

NM_000251.3(MSH2):c.701C>T (p.Thr234Ile)

SNV
Germline

Chr2:47412469

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA022053

rs_730881773

10 SubmittersRCV000160625 RCV000473583 RCV000663301 RCV000562874 RCV004806115 RCV005359370

NM_000251.3(MSH2):c.716A>G (p.Gln239Arg)

SNV
Germline

Chr2:47412484

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA022091

rs_199676483

17 SubmittersRCV000160626 RCV000198252 RCV000411135 RCV000491808 RCV000656873 RCV000708828 RCV005359371

NM_000251.3(MSH2):c.766G>A (p.Ala256Thr)

SNV
Germline

Chr2:47412534

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA022219

rs_377403073

11 SubmittersRCV000160627 RCV000196535 RCV000491536 RCV000662661 RCV002265637 RCV005394556

NM_000251.3(MSH2):c.1189C>G (p.Gln397Glu)

SNV
Germline

Chr2:47429854

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017431

rs_63750611

11 SubmittersRCV000160634 RCV000233011 RCV000491315 RCV001257466 RCV001269197 RCV003998485 RCV005025246

NM_000251.3(MSH2):c.1571G>A (p.Arg524His)

SNV
Germline

Chr2:47466718

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA018637

rs_63751207

13 SubmittersRCV000160592 RCV000228006 RCV000218047 RCV000708832 RCV002243830 RCV005025244 RCV003467248 RCV005359367 RCV003492653

NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg)

SNV
Germline

Chr2:47480774

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020697

rs_140754514

14 SubmittersRCV000160621 RCV000168241 RCV000235176 RCV000663089 RCV000656883 RCV004700494 RCV005359369

NM_000249.4(MLH1):c.-14C>T

SNV
Germline

Chr3:36993534

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Muir-Torré syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA005596

rs_730881744

5 SubmittersRCV000160546 RCV000776169 RCV005359365 RCV003998467

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 cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified

Criteria Provided
Conflicting Classifications

CA004129

rs_730881737

6 SubmittersRCV000160524 RCV000764486 RCV002390389 RCV001850268 RCV005437970

NM_000249.4(MLH1):c.1243G>A (p.Asp415Asn)

SNV
Germline

Chr3:37025841

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA004818

rs_373767220

9 SubmittersRCV000160532 RCV000198513 RCV000212533 RCV000515376 RCV003149975 RCV003467246 RCV004806113

NM_000249.4(MLH1):c.1269G>A (p.Arg423=)

SNV
Germline

Chr3:37025867

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
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

Criteria Provided
Conflicting Classifications

CA004900

rs_373076967

15 SubmittersRCV000160562 RCV000212534 RCV000662830 RCV000589453 RCV001086876 RCV005394555

NM_000249.4(MLH1):c.1628A>G (p.His543Arg)

SNV
Germline

Chr3:37040255

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Endometrial carcinoma
Lynch syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Conflicting Classifications

CA006185

rs_730881742

11 SubmittersRCV000160537 RCV000206589 RCV000212541 RCV000409504 RCV001354460 RCV003998466 RCV005031674 RCV005237596

NM_000251.3(MSH2):c.-181G>A

SNV
Germline

Chr2:47403011

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021770

rs_786201698

7 SubmittersRCV000164108 RCV000410088 RCV001346811 RCV001536270 RCV005359463 RCV002492654 RCV004535093

NM_000251.3(MSH2):c.74G>A (p.Gly25Asp)

SNV
Germline

Chr2:47403265

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA022180

rs_767747378

10 SubmittersRCV000164134 RCV000525136 RCV001193893 RCV001762365 RCV003462126 RCV003995317 RCV005359466

NM_000251.3(MSH2):c.376G>A (p.Gly126Ser)

SNV
Germline

Chr2:47410103

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021086

rs_767371843

8 SubmittersRCV000199020 RCV000166502 RCV000515190 RCV004589798 RCV003995507 RCV004567305

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
Mismatch repair cancer syndrome 1
Lynch syndrome 1
Muir-Torré syndrome
not specified
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021133

rs_193096019

14 SubmittersRCV000166792 RCV000546078 RCV000997136 RCV002053989 RCV002267920 RCV002291583 RCV001357296

NM_000251.3(MSH2):c.606C>G (p.Pro202=)

SNV
Germline

Chr2:47410333

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021556

rs_63750600

13 SubmittersRCV000162431 RCV000281902 RCV000423282 RCV001079211 RCV000524416 RCV003995195 RCV004535052 RCV005394568

NM_000251.3(MSH2):c.2043A>G (p.Gln681=)

SNV
Germline

Chr2:47476404

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA019883

rs_730881763

10 SubmittersRCV000163402 RCV000679301 RCV001085062 RCV005246690 RCV003149999 RCV003995254 RCV005394586

NM_000251.3(MSH2):c.2528G>A (p.Cys843Tyr)

SNV
Germline

Chr2:47480765

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020680

rs_747700106

10 SubmittersRCV000166329 RCV000232782 RCV005246733 RCV001194027 RCV003995501 RCV001594863 RCV005396487

NM_000249.4(MLH1):c.415C>G (p.Pro139Ala)

SNV
Germline

Chr3:37007025

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010313

rs_779562531

10 SubmittersRCV000166916 RCV000204264 RCV000521531 RCV000524299 RCV000662504 RCV005365091

NM_000249.4(MLH1):c.454G>A (p.Val152Met)

SNV
Germline

Chr3:37008814

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010615

rs_748417604

7 SubmittersRCV000163977 RCV000222401 RCV000540116 RCV003447510 RCV003995305

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

SNV
Germline

Chr3:37025715

Conflicting classifications of pathogenicity

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
Lynch syndrome
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA004380

rs_766904735

15 SubmittersRCV000166495 RCV000226857 RCV000484742 RCV000662540 RCV000764487 RCV000708919 RCV005230017 RCV005361016

NM_000249.4(MLH1):c.1136A>C (p.Tyr379Ser)

SNV
Germline

Chr3:37025734

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA004428

rs_143009528

9 SubmittersRCV000166929 RCV000481402 RCV000805743 RCV004596094 RCV003491912 RCV005361028 RCV005425778

NM_000249.4(MLH1):c.1236C>T (p.Val412=)

SNV
Germline

Chr3:37025834

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA004803

rs_369576099

8 SubmittersRCV000163670 RCV001147917 RCV000943642 RCV001704174 RCV005359434 RCV003995269

NM_000249.4(MLH1):c.1415G>A (p.Arg472Lys)

SNV
Germline

Chr3:37028789

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA005379

rs_63750498

9 SubmittersRCV000162406 RCV000541695 RCV000588918 RCV003998540 RCV004748609 RCV003467275 RCV005359389

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

Criteria Provided
Conflicting Classifications

CA005977

rs_587779953

9 SubmittersRCV000167029 RCV000521886 RCV000663082 RCV000764494 RCV003995549 RCV000459950 RCV003987389

NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr)

SNV
Germline

Chr3:37040294

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA006285

rs_63751596

9 SubmittersRCV000164556 RCV000822496 RCV002463655 RCV005237615 RCV005359479 RCV003477610 RCV004806133

NM_000249.4(MLH1):c.1690C>T (p.Leu564Phe)

SNV
Germline

Chr3:37042290

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA006418

rs_786202693

13 SubmittersRCV000165630 RCV000478918 RCV000229336 RCV000662425 RCV001800495 RCV003995440 RCV005396484

NM_000249.4(MLH1):c.1743G>A (p.Pro581=)

SNV
Germline

Chr3:37047530

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA006676

rs_567838745

13 SubmittersRCV000165449 RCV000662457 RCV000420605 RCV000759810 RCV001084862 RCV003975235 RCV003995418 RCV005359508

NM_000249.4(MLH1):c.1770A>C (p.Leu590Phe)

SNV
Germline

Chr3:37047557

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA006853

rs_769239969

7 SubmittersRCV000164192 RCV000685901 RCV003441761 RCV005420634 RCV003995322 RCV005396467

NM_000249.4(MLH1):c.319A>G (p.Ile107Val)

SNV
Germline

Chr3:37004413

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009774

rs_572906317

8 SubmittersRCV000167889 RCV000586116 RCV000583427 RCV001357822 RCV005031688

NM_000249.4(MLH1):c.1359G>C (p.Lys453Asn)

SNV
Germline

Chr3:37025957

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA005076

rs_756099600

10 SubmittersRCV000167968 RCV000214998 RCV000590046 RCV004567360 RCV003995601 RCV005361046

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
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Condition: not provided
not specified
Lynch syndrome
MSH2-related disorder
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA027308

rs_751431238

10 SubmittersRCV000200127 RCV000564423 RCV000765666 RCV001589078 RCV003155118 RCV003997012 RCV004528987 RCV003316110

NM_000251.3(MSH2):c.1813G>T (p.Val605Phe)

SNV
Germline

Chr2:47475078

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA031537

rs_730881777

11 SubmittersRCV000199035 RCV000235488 RCV000412070 RCV000566201 RCV003323451 RCV005361147 RCV003997014

NM_000251.3(MSH2):c.2048G>T (p.Gly683Val)

SNV
Germline

Chr2:47476409

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA339026

rs_755920849

17 SubmittersRCV000199994 RCV000410314 RCV000485278 RCV000767061 RCV000490871 RCV005031745 RCV003997017

NM_000251.3(MSH2):c.2072T>C (p.Ile691Thr)

SNV
Germline

Chr2:47476433

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA033486

rs_754824872

7 SubmittersRCV000195748 RCV000579733 RCV002307442 RCV003997018 RCV005031746

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
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA035098

rs_757268664

10 SubmittersRCV000196465 RCV000560982 RCV000589091 RCV001140258 RCV002500622 RCV003997019

NM_000251.3(MSH2):c.793-1G>A

SNV
Germline

Chr2:47414268

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA279694

rs_863225397

7 SubmittersRCV000202050 RCV000491505 RCV000703166 RCV001257468 RCV005365134

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
not specified
Condition: not provided
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA039073

rs_63750843

11 SubmittersRCV000214137 RCV000204442 RCV003320603 RCV000759837 RCV002485345 RCV003315420 RCV003997618

NM_000251.3(MSH2):c.641G>T (p.Arg214Ile)

SNV
Germline

Chr2:47410368

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA039588

rs_763298811

8 SubmittersRCV000204214 RCV000565649 RCV001556775 RCV003315421 RCV005361190 RCV003997641

NM_000251.3(MSH2):c.812C>G (p.Ser271Cys)

SNV
Germline

Chr2:47414288

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA349912

rs_139891783

9 SubmittersRCV000205795 RCV000657148 RCV001180058 RCV000481152 RCV005396638 RCV003997604

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
Condition: not provided
not specified
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA031443

rs_779447213

7 SubmittersRCV000205243 RCV000567614 RCV003477681 RCV002469065 RCV000765669 RCV004806198

NM_000251.3(MSH2):c.1898T>C (p.Ile633Thr)

SNV
Germline

Chr2:47475163

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA350189

rs_864622093

9 SubmittersRCV000206123 RCV000562458 RCV000519579 RCV003997560 RCV004567449 RCV001201177 RCV005396632

NM_000251.3(MSH2):c.2525A>T (p.Glu842Val)

SNV
Germline

Chr2:47480762

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA349143

rs_373393954

10 SubmittersRCV000204953 RCV000662576 RCV000565136 RCV001558974 RCV003997640 RCV005396648

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

SNV
Germline

Chr3:37012072

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
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 RCV000566399 RCV000478892 RCV001357243 RCV002494528 RCV003468950

NM_000249.4(MLH1):c.1270G>A (p.Ala424Thr)

SNV
Germline

Chr3:37025868

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA028060

rs_377433038

12 SubmittersRCV000485106 RCV000206553 RCV000562644 RCV000987172 RCV000657001 RCV005396641 RCV003997623

NM_000249.4(MLH1):c.1876T>C (p.Phe626Leu)

SNV
Germline

Chr3:37047663

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA031166

rs_377241633

11 SubmittersRCV000214440 RCV000708930 RCV000216958 RCV000462112 RCV003330588 RCV005365155 RCV003475015

NM_000251.3(MSH2):c.-82G>C

SNV
Germline

Chr2:47403110

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10577908

rs_866991159

7 SubmittersRCV000219414 RCV001267894 RCV001549839 RCV005361286 RCV005090087 RCV003491972

NM_000251.3(MSH2):c.149C>A (p.Ala50Glu)

SNV
Germline

Chr2:47403340

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10577920

rs_876658582

5 SubmittersRCV000215229 RCV000554733 RCV002264919 RCV005365149

NM_000251.3(MSH2):c.160G>A (p.Ala54Thr)

SNV
Germline

Chr2:47403351

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10577921

rs_749212640

8 SubmittersRCV000220104 RCV000814579 RCV000679293 RCV003997771 RCV005025356

NM_000251.3(MSH2):c.183G>T (p.Gln61His)

SNV
Germline

Chr2:47403374

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

Criteria Provided
Conflicting Classifications

CA031694

rs_751082926

6 SubmittersRCV000216596 RCV000537297 RCV001753678 RCV005396726

NM_000251.3(MSH2):c.938T>C (p.Phe313Ser)

SNV
Germline

Chr2:47414414

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA041188

rs_780656204

6 SubmittersRCV000219588 RCV000461288 RCV003469076 RCV003998553 RCV005365167

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
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA028810

rs_55653533

8 SubmittersRCV000219106 RCV000475338 RCV001589154 RCV002485427 RCV003998020 RCV003462508

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
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
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
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome
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.2515C>G (p.His839Asp)

SNV
Germline

Chr2:47480752

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10578009

rs_876659466

5 SubmittersRCV000218052 RCV000629882 RCV001175264 RCV003997937 RCV005361306

NM_000251.3(MSH2):c.2580G>A (p.Ser860=)

SNV
Germline

Chr2:47480817

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA036718

rs_752428475

12 SubmittersRCV000217383 RCV000229354 RCV001142095 RCV001722191 RCV003330590 RCV003997953 RCV004532792 RCV005361310

NM_000249.4(MLH1):c.1348G>T (p.Asp450Tyr)

SNV
Germline

Chr3:37025946

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA028262

rs_752622244

8 SubmittersRCV000216865 RCV000230653 RCV001770179 RCV004748665 RCV003997928 RCV005396719

NM_000249.4(MLH1):c.1451A>G (p.Asp484Gly)

SNV
Germline

Chr3:37028825

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10578251

rs_876659795

13 SubmittersRCV000213760 RCV000522050 RCV000560187 RCV003226256 RCV005361319 RCV003997978 RCV004748666 RCV005246839

NM_000249.4(MLH1):c.1698T>C (p.Tyr566=)

SNV
Germline

Chr3:37042298

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10578260

rs_876658915

9 SubmittersRCV000220192 RCV000287269 RCV000925925 RCV001668387 RCV004806222 RCV005365153

NM_000251.3(MSH2):c.211+9C>A

SNV
Germline

Chr2:47403411

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA034025

rs_2303426

5 SubmittersRCV000230066 RCV000580355 RCV000614752 RCV005246884 RCV005361390

NM_000251.3(MSH2):c.431C>G (p.Ser144Cys)

SNV
Germline

Chr2:47410158

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10581996

rs_878853818

4 SubmittersRCV001305761 RCV001525207 RCV005361391

NM_000251.3(MSH2):c.843A>T (p.Ser281=)

SNV
Germline

Chr2:47414319

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA040882

rs_150197753

14 SubmittersRCV000232025 RCV000422592 RCV000573521 RCV000986654 RCV001705241 RCV003998767 RCV004541371 RCV005396746

NM_000251.3(MSH2):c.1077-7A>G

SNV
Germline

Chr2:47429735

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA026935

rs_370807334

11 SubmittersRCV000232807 RCV000417988 RCV003998749 RCV001705240 RCV002258835 RCV004541370 RCV005361388 RCV005246879

NM_000251.3(MSH2):c.1378A>G (p.Met460Val)

SNV
Germline

Chr2:47445649

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Breast and/or ovarian cancer
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA028135

rs_575905950

10 SubmittersRCV000225970 RCV000573569 RCV000985795 RCV003338475 RCV003150132 RCV003998755 RCV005361389

NM_000251.3(MSH2):c.2699C>G (p.Ser900Ter)

SNV
Germline

Chr2:47482843

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10582029

rs_878853814

3 SubmittersRCV001305492 RCV005025381 RCV005365179

NM_000249.4(MLH1):c.226G>A (p.Val76Ile)

SNV
Germline

Chr3:37000973

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
Malignant tumor of breast
Breast and/or ovarian cancer
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10582156

rs_878853788

12 SubmittersRCV000233829 RCV000485354 RCV000568460 RCV000765730 RCV001358259 RCV001798730 RCV001800589 RCV003463647 RCV003998742

NM_000249.4(MLH1):c.318C>T (p.Ser106=)

SNV
Germline

Chr3:37004412

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10582157

rs_63750297

6 SubmittersRCV000561338 RCV001469190 RCV003998743 RCV005246874 RCV005361385

NM_000249.4(MLH1):c.928A>G (p.Thr310Ala)

SNV
Germline

Chr3:37020353

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA039074

rs_779581111

11 SubmittersRCV000234748 RCV000581030 RCV000759816 RCV000780417 RCV001147025 RCV003998746 RCV005025380

NM_000251.3(MSH2):c.2224G>A (p.Asp742Asn)

SNV
Germline

Chr2:47478285

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10584222

rs_879254183

7 SubmittersRCV000236064 RCV000556812 RCV000564620 RCV003998917 RCV005365200 RCV003469187

NM_000249.4(MLH1):c.2070C>T (p.Tyr690=)

SNV
Germline

Chr3:37048984

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA032561

rs_550890395

9 SubmittersRCV000382809 RCV000524273 RCV000571723 RCV001088398 RCV003969994 RCV005355664

NM_000251.3(MSH2):c.-9G>A

SNV
Germline

Chr2:47403183

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16604252

rs_547444746

5 SubmittersRCV000444608 RCV000586531 RCV000580503 RCV001865336 RCV005355735

NM_000251.3(MSH2):c.668T>C (p.Leu223Pro)

SNV
Germline

Chr2:47412436

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16610792

rs_1060501992

7 SubmittersRCV000473169 RCV000571885 RCV001526843 RCV004000772 RCV005398618 RCV005600929

NM_000251.3(MSH2):c.439G>A (p.Val147Ile)

SNV
Germline

Chr2:47410166

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA038750

rs_773125415

9 SubmittersRCV000458857 RCV000568213 RCV000759835 RCV004000775 RCV003449128 RCV005398619

NM_000251.3(MSH2):c.726C>G (p.Asn242Lys)

SNV
Germline

Chr2:47412494

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
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

CA16611006

rs_748427458

8 SubmittersRCV000457050 RCV000775712 RCV000519119 RCV004568017 RCV004806311 RCV005027512

NM_000251.3(MSH2):c.2321T>C (p.Ile774Thr)

SNV
Germline

Chr2:47478382

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16611051

rs_878853811

11 SubmittersRCV000473566 RCV000761089 RCV001015184 RCV001284505 RCV003315429 RCV005027511

NM_000249.4(MLH1):c.1331A>G (p.Asn444Ser)

SNV
Germline

Chr3:37025929

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA028235

rs_763189331

8 SubmittersRCV000587089 RCV001088444 RCV001190846 RCV004002034 RCV005247065 RCV005355875

NM_000249.4(MLH1):c.1667+4A>G

SNV
Germline

Chr3:37040298

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16611233

rs_983986337

10 SubmittersRCV000464057 RCV001354080 RCV000777682 RCV002254696 RCV004000655 RCV005033966

NM_000249.4(MLH1):c.2020G>A (p.Glu674Lys)

SNV
Germline

Chr3:37048934

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA032265

rs_755577490

9 SubmittersRCV000456564 RCV001189202 RCV003409613 RCV001354280 RCV004022567 RCV005230373 RCV004000665 RCV005033967

NM_000249.4(MLH1):c.1457C>T (p.Ser486Phe)

SNV
Germline

Chr3:37028831

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA028856

rs_532873141

9 SubmittersRCV000460169 RCV000574118 RCV000481335 RCV003153588 RCV004000656 RCV005355793 RCV005600914

NM_000249.4(MLH1):c.1554T>C (p.His518=)

SNV
Germline

Chr3:37028928

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16611265

rs_1060504010

5 SubmittersRCV001443027 RCV002402315 RCV003478003 RCV005355876 RCV005247066

NM_000249.4(MLH1):c.652T>C (p.Ser218Pro)

SNV
Germline

Chr3:37012074

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA037512

rs_750650349

8 SubmittersRCV000564654 RCV000475778 RCV000987155 RCV001280631 RCV004000657 RCV005365304

NM_000249.4(MLH1):c.2135G>T (p.Trp712Leu)

SNV
Germline

Chr3:37050517

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA033478

rs_63750561

5 SubmittersRCV001180389 RCV003153597 RCV005398572 RCV005426015

NM_000251.3(MSH2):c.100G>A (p.Val34Met)

SNV
Germline

Chr2:47403291

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16617548

rs_1064793541

7 SubmittersRCV000484906 RCV001037181 RCV001016981 RCV004002277 RCV005365347

NM_000251.3(MSH2):c.103C>G (p.Arg35Gly)

SNV
Germline

Chr2:47403294

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16617549

rs_1060502034

6 SubmittersRCV000483915 RCV000579393 RCV000629871 RCV005398701 RCV004806367

NM_000251.3(MSH2):c.440T>G (p.Val147Gly)

SNV
Germline

Chr2:47410167

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA038774

rs_760851623

9 SubmittersRCV000588981 RCV000771216 RCV001051880 RCV004535515 RCV005355946 RCV004003339

NM_000251.3(MSH2):c.942+3A>G

SNV
Germline

Chr2:47414421

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16617570

rs_193922376

8 SubmittersRCV000479341 RCV000530947 RCV001019334 RCV003463979 RCV005355921 RCV003387853

NM_000251.3(MSH2):c.1315C>G (p.Pro439Ala)

SNV
Germline

Chr2:47445586

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16617576

rs_786203116

7 SubmittersRCV001851231 RCV001030709 RCV000487340 RCV001010926 RCV004003373 RCV005027555

NM_000251.3(MSH2):c.1910C>G (p.Ser637Cys)

SNV
Germline

Chr2:47475175

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16617596

rs_1064795992

5 SubmittersRCV001013660 RCV000482793 RCV000816301 RCV005027557

NM_000249.4(MLH1):c.-11C>T

SNV
Germline

Chr3:36993537

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Malignant tumor of breast
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
not specified
Inherited MMR deficiency (Lynch syndrome)

Criteria Provided
Conflicting Classifications

CA16617877

rs_776898290

11 SubmittersRCV000588982 RCV000774690 RCV001057484 RCV003464015 RCV001357773 RCV002063755 RCV004596227 RCV004691784

NM_000249.4(MLH1):c.188A>G (p.Asp63Gly)

SNV
Germline

Chr3:36996690

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16617887

rs_1064795693

7 SubmittersRCV000478087 RCV000570212 RCV001070471 RCV004722822 RCV005239069 RCV005365357

NM_000249.4(MLH1):c.563C>T (p.Ala188Val)

SNV
Germline

Chr3:37011837

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA036814

rs_777971431

11 SubmittersRCV000484514 RCV000542526 RCV000574007 RCV003476160 RCV004526688 RCV005034014 RCV004003315

NM_000249.4(MLH1):c.2054C>T (p.Ser685Phe)

SNV
Germline

Chr3:37048968

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16617937

rs_1064796101

6 SubmittersRCV000629826 RCV000487318 RCV005355965 RCV002420236 RCV003317238

NM_000251.3(MSH2):c.940C>T (p.Gln314Ter)

SNV
Germline

Chr2:47414416

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346733020

rs_1114167845

6 SubmittersRCV000491147 RCV000693833 RCV003449366 RCV004701554 RCV005355987

NM_000251.3(MSH2):c.2228C>T (p.Ser743Leu)

SNV
Germline/somatic

Chr2:47478289

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA346729718

rs_63751155

6 SubmittersRCV000507559 RCV003449448 RCV001219215 RCV001250042 RCV002431464 RCV005356029

NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn)

SNV
Germline/somatic

Chr3:37040294

Pathogenic/Likely pathogenic

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

CA352060789

rs_63751596

8 SubmittersRCV000520479 RCV001046224 RCV001249931 RCV001012628 RCV001093684 RCV003470652 RCV005398752

NM_000251.3(MSH2):c.70C>G (p.Gln24Glu)

SNV
Germline

Chr2:47403261

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA346728646

rs_587779976

4 SubmittersRCV000560638 RCV000777268 RCV005398773

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
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46660139

rs_267607954

6 SubmittersRCV000556329 RCV000567928 RCV002476086 RCV003478112 RCV004003731

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

SNV
Germline

Chr2:47475157

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA346728562

rs_1361816581

8 SubmittersRCV000547904 RCV000568306 RCV001572130 RCV002481753 RCV004003740 RCV004568718

NM_000249.4(MLH1):c.46G>C (p.Val16Leu)

SNV
Germline

Chr3:36993593

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA036168

rs_776643257

8 SubmittersRCV000554111 RCV000565039 RCV001821471 RCV003156248 RCV004003722 RCV004568713 RCV004787841

NM_000249.4(MLH1):c.844G>A (p.Ala282Thr)

SNV
Germline

Chr3:37017559

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA038533

rs_774689817

5 SubmittersRCV000534514 RCV000580834 RCV000764483 RCV001355010

NM_000249.4(MLH1):c.670G>A (p.Val224Ile)

SNV
Germline

Chr3:37012092

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA352042844

rs_1553644251

7 SubmittersRCV000545737 RCV000583889 RCV001553068 RCV003330748 RCV003470709 RCV004003724

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

SNV
Germline

Chr2:47410191

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA346730530

rs_876658188

7 SubmittersRCV000566316 RCV000764422 RCV000808811 RCV001551071 RCV003459360 RCV004001041

NM_000251.3(MSH2):c.1601G>T (p.Arg534Leu)

SNV
Germline

Chr2:47466748

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA029754

rs_587778523

8 SubmittersRCV000567489 RCV000662462 RCV001039308 RCV003153734 RCV004000846 RCV005367407

NM_000251.3(MSH2):c.1229G>T (p.Gly410Val)

SNV
Germline

Chr2:47429894

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA346734113

rs_1354753753

4 SubmittersRCV000567171 RCV000812381 RCV004001031 RCV005357689

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

SNV
Germline

Chr2:47466808

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA030195

rs_63750597

5 SubmittersRCV000570315 RCV000802215 RCV001310202 RCV002497211

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

SNV
Germline

Chr2:47416345

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA042047

rs_779673318

7 SubmittersRCV000572560 RCV000629913 RCV000708829 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
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346726967

rs_1553365763

4 SubmittersRCV000573636 RCV001043758 RCV002497215 RCV004001118

NM_000251.3(MSH2):c.1626A>G (p.Val542=)

SNV
Germline

Chr2:47466773

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA425965615

rs_1553366635

7 SubmittersRCV000574526 RCV000630249 RCV004000848 RCV005243300 RCV005248230 RCV005398877

NM_000251.3(MSH2):c.1619G>C (p.Ser540Thr)

SNV
Germline

Chr2:47466766

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA346727934

rs_1553366622

4 SubmittersRCV000566684 RCV000795919 RCV003465283 RCV005398923

NM_000251.3(MSH2):c.1217G>T (p.Arg406Leu)

SNV
Germline

Chr2:47429882

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA346734041

rs_146567853

5 SubmittersRCV000580175 RCV000696098 RCV005398926 RCV004001255

NM_000251.3(MSH2):c.2649T>G (p.Ile883Met)

SNV
Germline

Chr2:47482793

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA037199

rs_768983827

7 SubmittersRCV000580301 RCV001193286 RCV000629841 RCV002245022 RCV004001259 RCV005398927

NM_000249.4(MLH1):c.978G>A (p.Val326=)

SNV
Germline

Chr3:37020403

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA433077631

rs_1553648104

5 SubmittersRCV000584596 RCV002061830 RCV005392130 RCV005248374

NM_000249.4(MLH1):c.116+14C>G

SNV
Germline

Chr3:36993677

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA027279

rs_773103242

4 SubmittersRCV000612716 RCV000771294 RCV001356919 RCV002066700 RCV005367455

NM_000251.3(MSH2):c.2621A>G (p.Tyr874Cys)

SNV
Germline

Chr2:47480858

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA036876

rs_775390721

8 SubmittersRCV000630014 RCV000776212 RCV000781567 RCV003478344 RCV005392197 RCV004533306

NM_000251.3(MSH2):c.1810G>A (p.Ala604Thr)

SNV
Germline

Chr2:47475075

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA346728336

rs_1553368568

6 SubmittersRCV000629723 RCV004002772 RCV001013211 RCV001731820 RCV005357831

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

SNV
Germline

Chr3:37025649

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA352052043

rs_1437454428

7 SubmittersRCV000629849 RCV001017137 RCV000985774 RCV002492942 RCV003459491 RCV004002777

NM_000251.3(MSH2):c.2645A>C (p.Lys882Thr)

SNV
Germline

Chr2:47482789

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA346731362

rs_1284087975

5 SubmittersRCV000691943 RCV001525887 RCV005027855 RCV004807090

NM_000251.3(MSH2):c.2326G>A (p.Ala776Thr)

SNV
Germline

Chr2:47478387

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA346729904

rs_1558521842

3 SubmittersRCV000686668 RCV005357909 RCV002458205

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

CA346728230

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

Criteria Provided
Multiple Submitters
No Conflicts

CA352048326

rs_1553647894

3 SubmittersRCV000703589 RCV000763101 RCV002442522

NM_000251.3(MSH2):c.1071G>A (p.Glu357=)

SNV
Germline/somatic

Chr2:47416424

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA425973309

rs_587781617

5 SubmittersRCV000758661 RCV003768276 RCV004027162 RCV005249033 RCV005367534

NM_000251.3(MSH2):c.2095T>C (p.Ser699Pro)

SNV
Germline/somatic

Chr2:47476456

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA346729226

rs_1428704795

3 SubmittersRCV000758655 RCV004027161 RCV005392353

NM_000249.4(MLH1):c.790+5G>A

SNV
Germline/somatic

Chr3:37014549

Pathogenic/Likely pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA645534150

rs_267607771

4 SubmittersRCV000758644 RCV003453553 RCV004027160 RCV005357985

NM_000251.3(MSH2):c.2268C>G (p.Thr756=)

SNV
Germline

Chr2:47478329

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA426120149

rs_1404389752

7 SubmittersRCV000776917 RCV001054859 RCV003456428 RCV005249064 RCV005367547

NM_000251.3(MSH2):c.2083G>A (p.Val695Met)

SNV
Germline

Chr2:47476444

Pathogenic

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

Reviewed By Expert Panel

CA346729205

rs_772491283

5 SubmittersRCV000781997 RCV001014369 RCV004789180 RCV005092336 RCV005359523

NM_000251.3(MSH2):c.198C>A (p.Tyr66Ter)

SNV
Germline/somatic

Chr2:47403389

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346729043

rs_730881784

6 SubmittersRCV000799705 RCV001250031 RCV001013932 RCV005623369 RCV003453663 RCV005367566

NM_000249.4(MLH1):c.2050T>G (p.Tyr684Asp)

SNV
Germline

Chr3:37048964

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA352068119

rs_1386031101

2 SubmittersRCV000821078 RCV005036215

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

SNV
Germline

Chr3:37048984

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
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

CA352068231

rs_550890395

5 SubmittersRCV000796222 RCV001014284 RCV001269507 RCV002507374 RCV003453648

NM_000251.3(MSH2):c.1635G>A (p.Gln545=)

SNV
Germline

Chr2:47466782

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA425965626

rs_1558511163

4 SubmittersRCV000866579 RCV002390773 RCV005249163 RCV005359627

NM_000251.3(MSH2):c.177G>C (p.Lys59Asn)

SNV
Germline

Chr2:47403368

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA346729001

rs_1449905909

4 SubmittersRCV001013128 RCV001312301 RCV005029571

NM_000251.3(MSH2):c.809T>C (p.Leu270Pro)

SNV
Germline

Chr2:47414285

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346732763

rs_1573451078

4 SubmittersRCV001066735 RCV001027174 RCV003455140 RCV005394651

NM_000251.3(MSH2):c.1276G>C (p.Gly426Arg)

SNV
Germline

Chr2:47429941

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA346734314

rs_879254234

5 SubmittersRCV001010702 RCV003336230 RCV003594068 RCV005367667

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
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729172

rs_914610419

4 SubmittersRCV001014220 RCV001061882 RCV002481821 RCV004569928

NM_000251.3(MSH2):c.942+1G>A

SNV
Germline

Chr2:47414419

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346733027

rs_587779193

4 SubmittersRCV001019333 RCV001210828 RCV003455107 RCV005359774

NM_000251.3(MSH2):c.190A>G (p.Ile64Val)

SNV
Germline

Chr2:47403381

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA346729023

rs_1166747167

7 SubmittersRCV001062343 RCV001806007 RCV002268425 RCV004000125 RCV003467816 RCV005359833

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
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome 1
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728089

rs_63751054

6 SubmittersRCV001062181 RCV001183388 RCV004000124 RCV002479368 RCV004570256

NM_000251.3(MSH2):c.338A>G (p.Lys113Arg)

SNV
Germline

Chr2:47408527

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA346730031

rs_1672561938

4 SubmittersRCV001184619 RCV001876145 RCV005359910

NM_000251.3(MSH2):c.1259C>T (p.Ala420Val)

SNV
Germline

Chr2:47429924

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA346734276

rs_1673951633

3 SubmittersRCV001205969 RCV002411758 RCV005359937

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

SNV
Germline

Chr3:37012010

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
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA352042282

rs_587779027

5 SubmittersRCV001210948 RCV002497722 RCV002356902 RCV003449664

NM_000251.3(MSH2):c.211+1G>C

SNV
Germline

Chr2:47403403

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346729067

rs_1114167883

4 SubmittersRCV001241243 RCV001806078 RCV003449751 RCV005359988

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

SNV
Germline

Chr3:37011827

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA352041896

rs_63750012

3 SubmittersRCV001347505 RCV002493790 RCV003169700

NM_000251.3(MSH2):c.933C>A (p.Asn311Lys)

SNV
Germline

Chr2:47414409

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA346733005

rs_1060504424

3 SubmittersRCV001806154 RCV001369959 RCV005394993

NM_000249.4(MLH1):c.381-5A>G

SNV
Germline

Chr3:37006986

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA2499216678

rs_1060504016

4 SubmittersRCV001439646 RCV001799084 RCV005246022 RCV005361611

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

SNV
Unknown

Chr3:36996659

Pathogenic

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

Criteria Provided
Single Submitter

CA72786636

rs_63751199

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

CA346731152

rs_2104441416

2 SubmittersRCV001809176 RCV002440888

NM_000249.4(MLH1):c.2146G>T (p.Val716Leu)

SNV
Germline

Chr3:37050528

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA033554

rs_35831931

3 SubmittersRCV002046121 RCV002425435 RCV005397284

NM_000251.3(MSH2):c.2707A>T (p.Asn903Tyr)

SNV
Germline

Chr2:47482851

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA037273

rs_748318462

3 SubmittersRCV001963445 RCV002425334 RCV005370084

NM_000251.3(MSH2):c.793-2A>T

SNV
Germline

Chr2:47414267

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346732733

rs_267607933

3 SubmittersRCV002416800 RCV003454204 RCV005356110

NM_000249.4(MLH1):c.887T>A (p.Leu296Ter)

SNV
Germline

Chr3:37020312

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA352048354

rs_63750547

4 SubmittersRCV002375977 RCV003103537 RCV003454222 RCV005397406

NM_000249.4(MLH1):c.1667+1G>T

SNV
Germline

Chr3:37040295

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA352060813

rs_1434898623

3 SubmittersRCV002403902 RCV003454267 RCV005356117

NM_000251.3(MSH2):c.1739A>C (p.Glu580Ala)

SNV
Germline

Chr2:47471042

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA346728198

rs_2528833324