List of variants reported as likely pathogenic for colorectal cancer by International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

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

Total variants: 197

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	rs121434629	0.00018
NM_000535.7(PMS2):c.1A>G (p.Met1Val)	rs587779333	0.00004
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)	rs63750617	0.00002
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)	rs587779338	0.00002
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)	rs587779227	0.00001
NM_000249.4(MLH1):c.207+1G>A	rs267607718	0.00001
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)	rs587778998	0.00001
NM_000179.3(MSH6):c.1252T>C (p.Ser418Pro)	rs1251033858
NM_000179.3(MSH6):c.1445G>C (p.Arg482Pro)	rs773226008
NM_000179.3(MSH6):c.1621A>C (p.Ser541Arg)	rs587779778
NM_000179.3(MSH6):c.2117T>C (p.Phe706Ser)	rs587779231
NM_000179.3(MSH6):c.2234T>A (p.Ile745Asn)	rs1558664787
NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys)	rs63749919
NM_000179.3(MSH6):c.3163G>C (p.Ala1055Pro)	rs587779254
NM_000179.3(MSH6):c.3172+1G>T	rs587779255
NM_000179.3(MSH6):c.3172G>C (p.Asp1058His)	rs863225404
NM_000179.3(MSH6):c.3438+1G>A	rs267608096
NM_000179.3(MSH6):c.3439-1G>T	rs587779263
NM_000179.3(MSH6):c.3439-2A>G	rs267608098
NM_000179.3(MSH6):c.3646_3646+3del	rs267608106
NM_000179.3(MSH6):c.3647-6_3647-1del	rs267608112
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del)	rs63749942
NM_000179.3(MSH6):c.3G>T (p.Met1Ile)	rs876660095
NM_000179.3(MSH6):c.458-1G>A	rs267608035
NM_000249.4(MLH1):c.1038+1G>C	rs267607816
NM_000249.4(MLH1):c.1039-2A>G	rs267607815
NM_000249.4(MLH1):c.1039-2A>T	rs267607815
NM_000249.4(MLH1):c.114C>A (p.Asn38Lys)	rs267607706
NM_000249.4(MLH1):c.116+1G>A	rs267607709
NM_000249.4(MLH1):c.117-1G>T	rs587779950
NM_000249.4(MLH1):c.1409+1G>A	rs267607825
NM_000249.4(MLH1):c.1409+2T>G	rs587778911
NM_000249.4(MLH1):c.143A>C (p.Gln48Pro)	rs587778914
NM_000249.4(MLH1):c.1558+2T>G	rs267607831
NM_000249.4(MLH1):c.1559-1G>A	rs267607837
NM_000249.4(MLH1):c.1559-1G>C	rs267607837
NM_000249.4(MLH1):c.1559-2A>C	rs267607836
NM_000249.4(MLH1):c.1664T>C (p.Leu555Pro)	rs587778937
NM_000249.4(MLH1):c.1668-1G>A	rs267607845
NM_000249.4(MLH1):c.1668-1G>T	rs267607845
NM_000249.4(MLH1):c.1668-3C>A	rs267607844
NM_000249.4(MLH1):c.1676T>C (p.Leu559Pro)	rs63750059
NM_000249.4(MLH1):c.1721T>C (p.Leu574Pro)	rs63751608
NM_000249.4(MLH1):c.1731+1G>C	rs267607853
NM_000249.4(MLH1):c.1731+1G>T	rs267607853
NM_000249.4(MLH1):c.1731+2T>G	rs267607856
NM_000249.4(MLH1):c.1731+3A>T	rs267607851
NM_000249.4(MLH1):c.1732-2A>G	rs267607852
NM_000249.4(MLH1):c.1766C>A (p.Ala589Asp)	rs63750016
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del)	rs63750486
NM_000249.4(MLH1):c.1855G>C (p.Ala619Pro)	rs267607866
NM_000249.4(MLH1):c.1896+1G>A	rs267607867
NM_000249.4(MLH1):c.1896+1G>T	rs267607867
NM_000249.4(MLH1):c.1896+1del	rs267607868
NM_000249.4(MLH1):c.1896+2T>C	rs267607869
NM_000249.4(MLH1):c.1897-2A>G	rs267607871
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser)	rs63749792
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu)	rs63750610
NM_000249.4(MLH1):c.194G>A (p.Gly65Asp)	rs63751465
NM_000249.4(MLH1):c.1958T>G (p.Leu653Arg)	rs63751202
NM_000249.4(MLH1):c.1984A>C (p.Thr662Pro)	rs587778964
NM_000249.4(MLH1):c.1989+1G>C	rs267607879
NM_000249.4(MLH1):c.1990-16_1990-2del	rs267607881
NM_000249.4(MLH1):c.1990-1G>T	rs267607884
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg)	rs63750809
NM_000249.4(MLH1):c.203T>A (p.Ile68Asn)	rs63750281
NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser)	rs587778972
NM_000249.4(MLH1):c.207+1G>T	rs267607718
NM_000249.4(MLH1):c.207+1_207+2del	rs267607719
NM_000249.4(MLH1):c.207+2T>C	rs267607722
NM_000249.4(MLH1):c.208-3C>G	rs267607720
NM_000249.4(MLH1):c.2103+1G>C	rs267607888
NM_000249.4(MLH1):c.2103+1G>T	rs267607888
NM_000249.4(MLH1):c.2104-1G>T	rs587778978
NM_000249.4(MLH1):c.2104-2A>G	rs267607889
NM_000249.4(MLH1):c.2153A>C (p.His718Pro)	rs587778983
NM_000249.4(MLH1):c.238T>G (p.Phe80Val)	rs63749990
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu)	rs63750641
NM_000249.4(MLH1):c.293_304del (p.Gly98_Gly101del)	rs63751691
NM_000249.4(MLH1):c.301G>A (p.Gly101Ser)	rs267607726
NM_000249.4(MLH1):c.302G>A (p.Gly101Asp)	rs267607727
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)	rs63750453
NM_000249.4(MLH1):c.307-1G>C	rs267607736
NM_000249.4(MLH1):c.307-2A>C	rs267607732
NM_000249.4(MLH1):c.332C>T (p.Ala111Val)	rs63750539
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg)	rs63750781
NM_000249.4(MLH1):c.380+1G>A	rs267607745
NM_000249.4(MLH1):c.380+2T>C	rs267607742
NM_000249.4(MLH1):c.381-2A>G	rs267607743
NM_000249.4(MLH1):c.440G>A (p.Gly147Glu)	rs1060500702
NM_000249.4(MLH1):c.453+1G>T	rs267607750
NM_000249.4(MLH1):c.454-13A>G	rs267607749
NM_000249.4(MLH1):c.454-1G>T	rs193922370
NM_000249.4(MLH1):c.454-2A>G	rs267607753
NM_000249.4(MLH1):c.543C>G (p.Gly181=)	rs1481129490
NM_000249.4(MLH1):c.545+1G>A	rs267607765
NM_000249.4(MLH1):c.546-1G>A	rs587779022
NM_000249.4(MLH1):c.574_588+2del	rs587779023
NM_000249.4(MLH1):c.588+1del	rs267607773
NM_000249.4(MLH1):c.588+2T>A	rs587779024
NM_000249.4(MLH1):c.589-1G>T	rs587779027
NM_000249.4(MLH1):c.677+1G>A	rs267607778
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu)	rs63751711
NM_000249.4(MLH1):c.677_677+1insT	rs587779033
NM_000249.4(MLH1):c.678-1G>T	rs267607784
NM_000249.4(MLH1):c.678-2A>G	rs587779035
NM_000249.4(MLH1):c.73A>T (p.Ile25Phe)	rs63749838
NM_000249.4(MLH1):c.790+1G>C	rs267607789
NM_000249.4(MLH1):c.791-1G>T	rs267607795
NM_000249.4(MLH1):c.791-2A>G	rs267607794
NM_000249.4(MLH1):c.791-7T>A	rs587779042
NM_000249.4(MLH1):c.794G>C (p.Arg265Pro)	rs63751448
NM_000249.4(MLH1):c.884+2T>C	rs267607806
NM_000249.4(MLH1):c.885-2A>G	rs267607805
NM_000249.4(MLH1):c.911A>T (p.Asp304Val)	rs63750993
NM_000249.4(MLH1):c.923A>C (p.His308Pro)	rs1559543768
NM_000249.4(MLH1):c.931A>G (p.Lys311Glu)	rs876658657
NM_000249.4(MLH1):c.988_990del (p.Ile330del)	rs63751197
NM_000251.2(MSH2):c.-78_-77del	rs587779182
NM_000251.3(MSH2):c.1022T>C (p.Leu341Pro)	rs63751147
NM_000251.3(MSH2):c.1046_1047delinsGC (p.Pro349Arg)	rs1558466685
NM_000251.3(MSH2):c.1076+1G>T	rs267607940
NM_000251.3(MSH2):c.1077-1G>C	rs267607944
NM_000251.3(MSH2):c.1077-1G>T	rs267607944
NM_000251.3(MSH2):c.1077-2A>G	rs267607943
NM_000251.3(MSH2):c.1077-2A>T	rs267607943
NM_000251.3(MSH2):c.1276+1G>C	rs267607950
NM_000251.3(MSH2):c.1276+1G>T	rs267607950
NM_000251.3(MSH2):c.1276+2T>A	rs267607953
NM_000251.3(MSH2):c.1277-1G>A	rs267607948
NM_000251.3(MSH2):c.1277-1G>C	rs267607948
NM_000251.3(MSH2):c.1277-2A>C	rs267607949
NM_000251.3(MSH2):c.1386+1G>A	rs267607957
NM_000251.3(MSH2):c.1386+1G>C	rs267607957
NM_000251.3(MSH2):c.1386+1G>T	rs267607957
NM_000251.3(MSH2):c.1387-1G>T	rs267607956
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro)	rs63751207
NM_000251.3(MSH2):c.1661+1G>A	rs267607969
NM_000251.3(MSH2):c.1661+1G>T	rs267607969
NM_000251.3(MSH2):c.1662-2A>G	rs267607971
NM_000251.3(MSH2):c.1667T>G (p.Leu556Trp)	rs587779101
NM_000251.3(MSH2):c.1759+1G>A	rs587779108
NM_000251.3(MSH2):c.1759+2T>C	rs267607976
NM_000251.3(MSH2):c.1760-1G>A	rs587779110
NM_000251.3(MSH2):c.1808A>G (p.Asp603Gly)	rs267607985
NM_000251.3(MSH2):c.1955C>A (p.Pro652His)	rs267607983
NM_000251.3(MSH2):c.1979A>G (p.Asp660Gly)	rs1085308057
NM_000251.3(MSH2):c.2005+1G>A	rs267607986
NM_000251.3(MSH2):c.2005+1G>C	rs267607986
NM_000251.3(MSH2):c.2005+1G>T	rs267607986
NM_000251.3(MSH2):c.2005+2_2005+12del	rs587779123
NM_000251.3(MSH2):c.2005+2del	rs587779124
NM_000251.3(MSH2):c.2006-1G>C	rs267607988
NM_000251.3(MSH2):c.2006-2A>G	rs267607991
NM_000251.3(MSH2):c.2020G>C (p.Gly674Arg)	rs63750234
NM_000251.3(MSH2):c.2021G>A (p.Gly674Asp)	rs267607996
NM_000251.3(MSH2):c.2074G>C (p.Gly692Arg)	rs63750232
NM_000251.3(MSH2):c.2075G>T (p.Gly692Val)	rs63751432
NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr)	rs63750398
NM_000251.3(MSH2):c.212-2A>G	rs267607917
NM_000251.3(MSH2):c.2210+1G>A	rs267608002
NM_000251.3(MSH2):c.2210+1G>C	rs267608002
NM_000251.3(MSH2):c.2211-1G>T	rs267607979
NM_000251.3(MSH2):c.2211-2A>C	rs267608001
NM_000251.3(MSH2):c.2211-2A>T	rs267608001
NM_000251.3(MSH2):c.2245G>A (p.Glu749Lys)	rs63751477
NM_000251.3(MSH2):c.2251G>C (p.Gly751Arg)	rs63751119
NM_000251.3(MSH2):c.2458+1G>A	rs267608010
NM_000251.3(MSH2):c.2634+1G>A	rs267608019
NM_000251.3(MSH2):c.2634+1G>T	rs267608019
NM_000251.3(MSH2):c.2635-1G>T	rs267608020
NM_000251.3(MSH2):c.2635-2A>G	rs1114167818
NM_000251.3(MSH2):c.277C>T (p.Leu93Phe)	rs63751429
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del)	rs587779157
NM_000251.3(MSH2):c.366+1G>T	rs267607924
NM_000251.3(MSH2):c.367-1G>A	rs267607925
NM_000251.3(MSH2):c.491G>A (p.Gly164Glu)	rs786204082
NM_000251.3(MSH2):c.493T>G (p.Tyr165Asp)	rs587779163
NM_000251.3(MSH2):c.645+1G>T	rs267607689
NM_000251.3(MSH2):c.646-2A>G	rs587779169
NM_000251.3(MSH2):c.646-3_654del	rs267607929
NM_000251.3(MSH2):c.793-2A>C	rs267607933
NM_000251.3(MSH2):c.942+1G>T	rs587779193
NM_000251.3(MSH2):c.942+2T>G	rs587779195
NM_000251.3(MSH2):c.942+2del	rs587779194
NM_000251.3(MSH2):c.943-1G>A	rs12476364
NM_000251.3(MSH2):c.943-1G>C	rs12476364
NM_000251.3(MSH2):c.943-2A>G	rs587779198
NM_000251.3(MSH2):c.[2635-3C>T;2635-5T>C]
NM_000535.7(PMS2):c.1144+2T>A	rs267608158
NM_000535.7(PMS2):c.163+2T>C	rs587779329
NM_000535.7(PMS2):c.164-2A>G	rs587779324
NM_000535.7(PMS2):c.2007-1G>A	rs267608170
NM_000535.7(PMS2):c.251-2A>G	rs587779340
NM_000535.7(PMS2):c.705+1G>T	rs267608147
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)	rs267608153
NM_000535.7(PMS2):c.989-2A>G	rs587779347

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