ClinVar Miner

List of variants reported as pathogenic for Lynch syndrome by Invitae

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 152
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HGVS dbSNP
NC_000002.11:g.38121110_47669522inv
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.1295_1296insAA (p.Phe432fs) rs1060502946
NM_000179.2(MSH6):c.1333_1334del (p.Val444_Ser445insTer) rs1060502940
NM_000179.2(MSH6):c.1367G>A (p.Trp456Ter) rs587780538
NM_000179.2(MSH6):c.1570_1571insC (p.Tyr524fs) rs878853709
NM_000179.2(MSH6):c.1746dup (p.Arg583Ter) rs863224474
NM_000179.2(MSH6):c.1794dup (p.Gly599fs) rs587780670
NM_000179.2(MSH6):c.1805C>A (p.Ser602Ter) rs730881816
NM_000179.2(MSH6):c.1842del (p.Cys615fs) rs730881825
NM_000179.2(MSH6):c.2137del (p.Asp713fs) rs864622257
NM_000179.2(MSH6):c.2294dup (p.Cys765fs) rs1553413673
NM_000179.2(MSH6):c.261-3237_3735del
NM_000179.2(MSH6):c.2680C>T (p.Gln894Ter) rs878853718
NM_000179.2(MSH6):c.3149del (p.Ala1050fs) rs1060502882
NM_000179.2(MSH6):c.3435del (p.Arg1145fs) rs863224476
NM_000179.2(MSH6):c.3690del (p.Val1231fs) rs730881829
NM_000179.2(MSH6):c.3717_3721dup (p.Cys1241Ter) rs878853736
NM_000179.2(MSH6):c.3850_3857dup (p.Tyr1287fs) rs1553333432
NM_000179.2(MSH6):c.3864dup (p.Phe1289fs) rs878853739
NM_000179.2(MSH6):c.3973A>T (p.Lys1325Ter) rs1060502937
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_000179.2(MSH6):c.741del (p.Lys247fs) rs267608041
NM_000179.2(MSH6):c.989C>A (p.Ser330Ter) rs786202848
NM_000179.2(MSH6):c.999del (p.Lys334fs) rs1060502932
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.1441del (p.Met481fs) rs878853777
NM_000249.3(MLH1):c.1559-2A>G rs267607836
NM_000249.3(MLH1):c.1559-?_1667+?del
NM_000249.3(MLH1):c.1624C>T (p.Gln542Ter) rs63750192
NM_000249.3(MLH1):c.1667+2_1667+8delinsATTT rs587778938
NM_000249.3(MLH1):c.1732-?_(*193_?)del
NM_000249.3(MLH1):c.1790G>A (p.Trp597Ter) rs63750604
NM_000249.3(MLH1):c.1912G>T (p.Gly638Ter) rs63750549
NM_000249.3(MLH1):c.208-?_306+?del
NM_000249.3(MLH1):c.208-?_545+?del
NM_000249.3(MLH1):c.2136del (p.Ser711_Trp712insTer) rs1060500706
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_000249.3(MLH1):c.545+1G>A rs267607765
NM_000249.3(MLH1):c.699T>A (p.Cys233Ter) rs764085979
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.1120C>T (p.Gln374Ter) rs63750558
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.1404_1410del (p.Phe468fs) rs878853802
NM_000251.2(MSH2):c.1405del (p.Leu469_Val470insTer) rs1060502027
NM_000251.2(MSH2):c.1442T>A (p.Leu481Ter) rs786203036
NM_000251.2(MSH2):c.1470_1473delinsAAA (p.Met492fs) rs1060502029
NM_000251.2(MSH2):c.1528C>T (p.Gln510Ter) rs587779097
NM_000251.2(MSH2):c.1662-?_*(1_?)del
NM_000251.2(MSH2):c.1667dup (p.Leu556fs) rs267607694
NM_000251.2(MSH2):c.1700_1704del (p.Lys567fs) rs63750474
NM_000251.2(MSH2):c.1963_1964del (p.Val655fs) rs864622121
NM_000251.2(MSH2):c.2006-?_2210+?del
NM_000251.2(MSH2):c.2089T>C (p.Cys697Arg) rs63750961
NM_000251.2(MSH2):c.2096C>G (p.Ser699Ter) rs587779136
NM_000251.2(MSH2):c.212-?_1076+?del
NM_000251.2(MSH2):c.212-?_366+?del
NM_000251.2(MSH2):c.2150_2153del (p.Ser717fs) rs878853809
NM_000251.2(MSH2):c.2161G>T (p.Gly721Ter) rs1060502032
NM_000251.2(MSH2):c.2283del (p.Gly761_Leu762insTer) rs786204050
NM_000251.2(MSH2):c.2446C>T (p.Gln816Ter) rs63749917
NM_000251.2(MSH2):c.2579C>A (p.Ser860Ter) rs63750849
NM_000251.2(MSH2):c.264dup (p.Val89fs) rs267607920
NM_000251.2(MSH2):c.301G>T (p.Glu101Ter) rs63750318
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_000251.2(MSH2):c.388C>T (p.Gln130Ter) rs1060501989
NM_000251.2(MSH2):c.510dup (p.Arg171fs) rs1553350787
NM_000251.2(MSH2):c.782_783insA (p.Met261fs) rs786204144
NM_000251.2(MSH2):c.793-?_1076+?del
NM_000251.2(MSH2):c.819_821delinsTG (p.Ile274fs) rs864622261
NM_000251.2(MSH2):c.85A>T (p.Lys29Ter) rs1060502001
NM_000251.2(MSH2):c.912dup (p.Ala305fs) rs863224833
NM_000535.6(PMS2):c.(?_-87)_23+?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_000535.6(PMS2):c.538-?_903+?del
NM_000535.6(PMS2):c.804-?_2006+?del
NM_000535.6(PMS2):c.904-?_1144+?del
NM_000535.6(PMS2):c.989-?_1144+?del
NM_000535.7(PMS2):c.1185del (p.Met396fs) rs786204104
NM_000535.7(PMS2):c.121G>T (p.Glu41Ter) rs3209663
NM_000535.7(PMS2):c.1221del (p.Thr408fs) rs587776715
NM_000535.7(PMS2):c.1297A>T (p.Lys433Ter) rs863224496
NM_000535.7(PMS2):c.129del (p.Glu44fs) rs1060503148
NM_000535.7(PMS2):c.1376C>A (p.Ser459Ter) rs587780724
NM_000535.7(PMS2):c.1576del (p.Asp526fs) rs863224497
NM_000535.7(PMS2):c.1591G>T (p.Glu531Ter) rs878854037
NM_000535.7(PMS2):c.1750dup (p.Ile584fs) rs864622600
NM_000535.7(PMS2):c.1891C>T (p.Gln631Ter) rs1060503138
NM_000535.7(PMS2):c.1912C>T (p.Gln638Ter) rs764342199
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.779_780delinsAG (p.Ser260Ter) rs730881920
NM_000535.7(PMS2):c.859dup (p.Arg287fs) rs1554300763
NM_001167617.2(MLH1):c.-161dup rs63750867
NM_001167617.2(MLH1):c.-22del rs1060500688
NM_001167617.2(MLH1):c.-479dup rs63750057
NM_001167618.2(MLH1):c.-18_2del (p.Met1fs) rs863224480
NM_001167618.2(MLH1):c.-320_-317del rs587779014
NM_001167618.2(MLH1):c.-342del rs63750865
NM_001167618.2(MLH1):c.-59del rs63750385
NM_001258281.1(MSH2):c.-30-28_-30-15del rs863224481
NM_001258281.1(MSH2):c.-30-82_-30-79del rs1060502000
NM_001258281.1(MSH2):c.810del (p.Gln271fs) rs879253899
NM_001281492.1(MSH6):c.1666_1670delinsCTTCTACCTCAAAAA (p.Gly556fs) rs878853711
NM_001281492.1(MSH6):c.1755_1756CA[1] (p.Thr586fs) rs786204048
NM_001281492.1(MSH6):c.1918_1922delinsT (p.Gly640fs) rs864622585
NM_001354621.1(MLH1):c.-139-2736_-139-2735del rs63750034
NM_001354621.1(MLH1):c.-139-2769dup rs878853792
NM_001354621.1(MLH1):c.-65_-64AG[3] rs878853794
NM_001354621.1(MLH1):c.-7del rs63750339
NM_001354624.1(MLH1):c.-28dup rs1060500707
NM_001354624.1(MLH1):c.-32del rs1060500703
NM_001354624.1(MLH1):c.-3_4del (p.Met1fs) rs1060500692
NM_001354630.1(MLH1):c.1732-877dup rs1060500687
NM_002354.2(EPCAM):c.133C>T (p.Gln45Ter) rs878854485
NM_002354.2(EPCAM):c.523C>T (p.Gln175Ter) rs878854491
NM_002354.2(EPCAM):c.859-?_*415del

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