List of variants reported as pathogenic for Lynch syndrome by Invitae

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 88

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HGVS	dbSNP	gnomAD frequency
NC_000002.12:g.(?_47369148)_(47387028_?)del
NC_000002.12:g.(?_47377014)_(47377077_?)del
NC_000002.12:g.(?_47378953)_(47387028_?)del
NC_000002.12:g.(?_47403067)_(47403402_?)del
NC_000002.12:g.(?_47403067)_(47408555_?)del
NC_000002.12:g.(?_47403067)_(47483228_?)del
NC_000002.12:g.(?_47412414)_(47483228_?)del
NC_000002.12:g.(?_47790927)_(47791123_?)del
NC_000002.12:g.(?_47790927)_(47801155_?)del
NC_000002.12:g.(?_47803420)_(47805027_?)del
NC_000003.12:g.(?_36996619)_(37001053_?)del
NC_000007.14:g.(?_5991973)_(5999275_?)del
NC_000007.14:g.(?_5991973)_(6002636_?)del
NC_000007.14:g.(?_5991973)_(6006031_?)del
NC_000007.14:g.(?_5991973)_(6009106_?)del
NC_000007.14:g.(?_5997326)_(6004058_?)del
NC_000007.14:g.(?_6003690)_(6004058_?)del
NM_000179.2(MSH6):c.(?_-1)_457+?del
NM_000179.2(MSH6):c.261-3237_3735del
NM_000179.2(MSH6):c.458-?_3172+?del
NM_000179.2(MSH6):c.458-?_3556+?del
NM_000179.2(MSH6):c.458-?_4001+?del
NM_000179.3(MSH6):c.1570_1571insC (p.Tyr524fs)	rs878853709
NM_000179.3(MSH6):c.1746dup (p.Arg583Ter)	rs863224474
NM_000179.3(MSH6):c.1794dup (p.Gly599fs)	rs587780670
NM_000179.3(MSH6):c.2056_2060delinsCTTCTACCTCAAAAA (p.Gly686fs)	rs878853711
NM_000179.3(MSH6):c.2137del (p.Asp713fs)	rs864622257
NM_000179.3(MSH6):c.2147_2148del (p.Thr716fs)	rs786204048
NM_000179.3(MSH6):c.2308_2312delinsT (p.Gly770fs)	rs864622585
NM_000179.3(MSH6):c.3435del (p.Arg1145fs)	rs863224476
NM_000179.3(MSH6):c.3690del (p.Val1231fs)	rs730881829
NM_000179.3(MSH6):c.3717_3721dup (p.Cys1241Ter)	rs878853736
NM_000179.3(MSH6):c.741del (p.Lys247fs)	rs267608041
NM_000249.3(MLH1):c.(207+1_208-1)_(545+1_546-1)del (p.Lys70Valfs)
NM_000249.3(MLH1):c.(?_-198)_116+?del
NM_000249.3(MLH1):c.(?_-198)_1558+?del
NM_000249.3(MLH1):c.1039-?_1409+?del
NM_000249.3(MLH1):c.1410-?_1558+?del
NM_000249.3(MLH1):c.1559-?_1667+?del
NM_000249.3(MLH1):c.1732-?_(*193_?)del
NM_000249.3(MLH1):c.208-?_306+?del
NM_000249.3(MLH1):c.307-?_380+?del
NM_000249.3(MLH1):c.454-?_1409+?dup
NM_000249.3(MLH1):c.454-?_545+?del
NM_000249.4(MLH1):c.1441del (p.Met481fs)	rs878853777
NM_000249.4(MLH1):c.382del (p.Ala128fs)	rs63750865
NM_000249.4(MLH1):c.38dup (p.Thr14fs)	rs63750057
NM_000249.4(MLH1):c.665del (p.Asn222fs)	rs63750385
NM_000249.4(MLH1):c.706_725del (p.Lys236fs)	rs863224480
NM_000249.4(MLH1):c.826dup (p.Ile276fs)	rs878853792
NM_000249.4(MLH1):c.961_962dup (p.Ser321fs)	rs878853794
NM_000251.2(MSH2):c.(?_-1)_1076+?del
NM_000251.2(MSH2):c.-125_1076+?del
NM_000251.2(MSH2):c.-125_645+?del
NM_000251.2(MSH2):c.1077-?_1276+?del
NM_000251.2(MSH2):c.1277-?_1386+?del
NM_000251.2(MSH2):c.1277-?_1661+?del
NM_000251.2(MSH2):c.1277-?_2634+?del
NM_000251.2(MSH2):c.1387-?_1510+?del
NM_000251.2(MSH2):c.1387-?_1661+?del
NM_000251.2(MSH2):c.1662-?_*(1_?)del
NM_000251.2(MSH2):c.2006-?_2210+?del
NM_000251.2(MSH2):c.212-?_366+?del
NM_000251.2(MSH2):c.367-?_1076+?del
NM_000251.2(MSH2):c.367-?_1386+?del
NM_000251.2(MSH2):c.367-?_645+?del
NM_000251.3(MSH2):c.(211+1_212-1)_(1076+1_1077-1)del (p.Gly71Aspfs*2)
NM_000251.3(MSH2):c.(792+1_793-1)_(1076+1_1077-1)del (p.Val265Ilefs*29)
NM_000251.3(MSH2):c.1404_1410del (p.Phe468fs)	rs878853802
NM_000251.3(MSH2):c.141_154del (p.Glu48fs)	rs863224481
NM_000251.3(MSH2):c.1963_1964del (p.Val655fs)	rs864622121
NM_000251.3(MSH2):c.2150_2153del (p.Ser717fs)	rs878853809
NM_000251.3(MSH2):c.2283del (p.Gly761_Leu762insTer)	rs786204050
NM_000251.3(MSH2):c.264dup (p.Val89fs)	rs267607920
NM_000251.3(MSH2):c.782_783insA (p.Met261fs)	rs786204144
NM_000251.3(MSH2):c.819_821delinsTG (p.Ile274fs)	rs864622261
NM_000251.3(MSH2):c.912dup (p.Ala305fs)	rs863224833
NM_000535.5(PMS2):c.(?_-87)_23+?del
NM_000535.5(PMS2):c.538-?_903+?del
NM_000535.5(PMS2):c.804-?_2006+?del
NM_000535.5(PMS2):c.904-?_1144+?del
NM_000535.5(PMS2):c.989-?_1144+?del
NM_000535.6(PMS2):c.-87_537+?del
NM_000535.6(PMS2):c.164-?_2006+?del
NM_000535.6(PMS2):c.2276-?_*160+?del
NM_000535.6(PMS2):c.2276-?_2445+?del
NM_000535.7(PMS2):c.1185del (p.Met396fs)	rs786204104
NM_002354.2(EPCAM):c.859-?_*415del

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