ClinVar Miner

List of variants reported as likely pathogenic for Hereditary nonpolyposis colon cancer

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ClinVar version:
Total variants: 174
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HGVS dbSNP
NC_000002.11:g.(?_47641398)_(47657090_?)dup
NC_000003.11:g.(?_37048476)_(37050402_?)del
NC_000003.11:g.(?_37053301)_(37053600_?)del
NC_000003.11:g.(?_37053301)_(37083832_?)dup
NC_000003.11:g.(?_37053305)_(37083828_?)dup
NC_000007.13:g.(?_6026380)_(6027261_?)dup
NC_000007.13:g.(?_6026384)_(6027257_?)dup
NC_000007.13:g.(?_6036951)_(6038912_?)dup
NC_000007.13:g.(?_6038729)_(6038916_?)del
NC_000007.13:g.(?_6045513)_(6045672_?)dup
NM_000179.2(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.2(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.2(MSH6):c.1316A>G (p.Asp439Gly) rs786202363
NM_000179.2(MSH6):c.136_260+1875del
NM_000179.2(MSH6):c.2057G>A (p.Gly686Asp) rs587779227
NM_000179.2(MSH6):c.2080T>C (p.Cys694Arg) rs587779228
NM_000179.2(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.2(MSH6):c.260+2_260+3delinsAG rs1064794075
NM_000179.2(MSH6):c.2906A>G (p.Tyr969Cys) rs63749919
NM_000179.2(MSH6):c.3173-1_3173del rs587779256
NM_000179.2(MSH6):c.3173-2A>C rs1553331242
NM_000179.2(MSH6):c.3439-2A>T rs267608098
NM_000179.2(MSH6):c.3556+1G>C
NM_000179.2(MSH6):c.3557-1G>T rs1114167723
NM_000179.2(MSH6):c.3557-2A>T rs1558390582
NM_000179.2(MSH6):c.3646+1dup rs1553332768
NM_000179.2(MSH6):c.3646+2T>C rs1553332776
NM_000179.2(MSH6):c.3724C>A (p.Arg1242Ser) rs587779285
NM_000179.2(MSH6):c.3798_3801+9del rs1553333168
NM_000179.2(MSH6):c.3801+1G>T rs876660943
NM_000179.2(MSH6):c.3801+1_3801+5del rs1553333175
NM_000179.2(MSH6):c.3801+1del rs1553333185
NM_000179.2(MSH6):c.3996_3999dup (p.Arg1334fs) rs1553333753
NM_000179.2(MSH6):c.3996_4000dup (p.Arg1334fs) rs587779301
NM_000179.2(MSH6):c.3G>T (p.Met1Ile) rs876660095
NM_000179.2(MSH6):c.4001+2T>C rs267608131
NM_000179.2(MSH6):c.4002-2A>G rs878853745
NM_000179.2(MSH6):c.458-1G>T
NM_000179.2(MSH6):c.627+1G>A
NM_000179.2(MSH6):c.628-2A>G rs1114167725
NM_000249.3(MLH1):c.1024_1038+1del rs1553648201
NM_000249.3(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.3(MLH1):c.116+1G>T rs267607709
NM_000249.3(MLH1):c.122A>T (p.Asp41Val) rs63751094
NM_000249.3(MLH1):c.1409+1G>T rs267607825
NM_000249.3(MLH1):c.1410-2A>G rs746536721
NM_000249.3(MLH1):c.1517T>C (p.Val506Ala) rs63749909
NM_000249.3(MLH1):c.1559-1G>T rs267607837
NM_000249.3(MLH1):c.1731+1G>C rs267607853
NM_000249.3(MLH1):c.1731+1G>T rs267607853
NM_000249.3(MLH1):c.1731+2T>C rs267607856
NM_000249.3(MLH1):c.1731+2T>G rs267607856
NM_000249.3(MLH1):c.1757C>A (p.Ala586Asp) rs63750587
NM_000249.3(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.3(MLH1):c.1897-2A>G rs267607871
NM_000249.3(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.3(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000249.3(MLH1):c.1984A>C (p.Thr662Pro) rs587778964
NM_000249.3(MLH1):c.1989+1G>A rs267607879
NM_000249.3(MLH1):c.1989+1G>T rs267607879
NM_000249.3(MLH1):c.1989G>A (p.Glu663=) rs63751662
NM_000249.3(MLH1):c.1989G>C (p.Glu663Asp)
NM_000249.3(MLH1):c.1989_1989+8del
NM_000249.3(MLH1):c.207+1G>A rs267607718
NM_000249.3(MLH1):c.208-3C>G rs267607720
NM_000249.3(MLH1):c.2103G>A (p.Gln701=) rs63750603
NM_000249.3(MLH1):c.2103G>C (p.Gln701His) rs63750603
NM_000249.3(MLH1):c.2104-1_2104delinsTCTTATGACATCTAAT rs1553665467
NM_000249.3(MLH1):c.2246T>C (p.Leu749Pro) rs267607894
NM_000249.3(MLH1):c.245C>T (p.Thr82Ile) rs63750005
NM_000249.3(MLH1):c.27G>A (p.Arg9=) rs759680369
NM_000249.3(MLH1):c.292G>A (p.Gly98Ser) rs267607725
NM_000249.3(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.3(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.3(MLH1):c.332C>T (p.Ala111Val) rs63750539
NM_000249.3(MLH1):c.380+1G>A rs267607745
NM_000249.3(MLH1):c.380G>A (p.Arg127Lys) rs63751595
NM_000249.3(MLH1):c.380G>T (p.Arg127Ile) rs63751595
NM_000249.3(MLH1):c.381-1G>A rs267607744
NM_000249.3(MLH1):c.3G>A (p.Met1Ile) rs72481822
NM_000249.3(MLH1):c.453+1G>T rs267607750
NM_000249.3(MLH1):c.454-13A>G rs267607749
NM_000249.3(MLH1):c.454-1G>C rs193922370
NM_000249.3(MLH1):c.546-1G>C
NM_000249.3(MLH1):c.588+2T>A rs587779024
NM_000249.3(MLH1):c.588+2T>G
NM_000249.3(MLH1):c.62C>A (p.Ala21Glu) rs63750706
NM_000249.3(MLH1):c.677+2T>C rs1553644277
NM_000249.3(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.3(MLH1):c.678-3T>A rs267607785
NM_000249.3(MLH1):c.739T>C (p.Ser247Pro) rs63750948
NM_000249.3(MLH1):c.791-1G>A rs267607795
NM_000249.3(MLH1):c.791-2A>G rs267607794
NM_000249.3(MLH1):c.882C>T (p.Leu294=) rs63751707
NM_000249.3(MLH1):c.884G>C (p.Ser295Thr) rs63750144
NM_000249.3(MLH1):c.885-1G>A rs1553647894
NM_000249.3(MLH1):c.885-1G>C rs1553647894
NM_000249.3(MLH1):c.885-2A>T
NM_000249.3(MLH1):c.910G>T (p.Asp304Tyr) rs1482654951
NM_000251.2(MSH2):c.1046C>T (p.Pro349Leu) rs587779067
NM_000251.2(MSH2):c.106_212-1229del
NM_000251.2(MSH2):c.1076G>C (p.Arg359Thr) rs63751604
NM_000251.2(MSH2):c.1077-2A>G rs267607943
NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.2(MSH2):c.1661+2T>C rs1553366680
NM_000251.2(MSH2):c.1661G>A (p.Ser554Asn) rs63750597
NM_000251.2(MSH2):c.1759+1G>A rs587779108
NM_000251.2(MSH2):c.1759+1G>T
NM_000251.2(MSH2):c.1759+2T>C rs267607976
NM_000251.2(MSH2):c.1759G>A (p.Gly587Ser) rs63751140
NM_000251.2(MSH2):c.1759G>C (p.Gly587Arg) rs63751140
NM_000251.2(MSH2):c.1760-1G>A rs587779110
NM_000251.2(MSH2):c.1760-2_1783del rs1064795329
NM_000251.2(MSH2):c.2060T>C (p.Leu687Pro) rs587779133
NM_000251.2(MSH2):c.2074G>C (p.Gly692Arg) rs63750232
NM_000251.2(MSH2):c.207_211+42del rs1553348901
NM_000251.2(MSH2):c.2090G>A (p.Cys697Tyr) rs63750398
NM_000251.2(MSH2):c.211+2T>C rs1060501993
NM_000251.2(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.2(MSH2):c.212-1G>A rs267607914
NM_000251.2(MSH2):c.2210+1G>A rs267608002
NM_000251.2(MSH2):c.2211-2A>G rs267608001
NM_000251.2(MSH2):c.2458+1G>A rs267608010
NM_000251.2(MSH2):c.2458+1G>T rs267608010
NM_000251.2(MSH2):c.2459-1G>C
NM_000251.2(MSH2):c.2459-6_2459-2del rs1114167841
NM_000251.2(MSH2):c.2634+1G>A rs267608019
NM_000251.2(MSH2):c.2634G>C (p.Glu878Asp) rs63751624
NM_000251.2(MSH2):c.484G>A (p.Gly162Arg) rs63750624
NM_000251.2(MSH2):c.491G>A (p.Gly164Glu) rs786204082
NM_000251.2(MSH2):c.493T>G (p.Tyr165Asp) rs587779163
NM_000251.2(MSH2):c.560T>G (p.Leu187Arg) rs63751444
NM_000251.2(MSH2):c.571_573delCTC rs587779165
NM_000251.2(MSH2):c.645+2T>A
NM_000251.2(MSH2):c.645+2T>G rs876658996
NM_000251.2(MSH2):c.646-2A>G rs587779169
NM_000251.2(MSH2):c.792+1delG rs1064794155
NM_000251.2(MSH2):c.793-1G>A rs863225397
NM_000251.2(MSH2):c.942+1G>T rs587779193
NM_000251.2(MSH2):c.943-1G>C rs12476364
NM_000251.2(MSH2):c.943-2A>G rs587779198
NM_000251.2(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.7(PMS2):c.164-1G>C rs763308607
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val) rs869320619
NM_000535.7(PMS2):c.2006+1G>A rs1554297040
NM_000535.7(PMS2):c.2006+1G>C rs1554297040
NM_000535.7(PMS2):c.2007-4_2007-1delinsACAC rs1562616355
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161
NM_000535.7(PMS2):c.2175-1G>C rs1562605623
NM_000535.7(PMS2):c.2275+1G>C
NM_000535.7(PMS2):c.2275+1G>T rs1554294393
NM_000535.7(PMS2):c.2275+2T>C rs1562604682
NM_000535.7(PMS2):c.23+1G>T rs587782074
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338
NM_000535.7(PMS2):c.251-1G>T
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646
NM_000535.7(PMS2):c.2522G>A (p.Trp841Ter) rs876661203
NM_000535.7(PMS2):c.2T>C (p.Met1Thr) rs587780059
NM_000535.7(PMS2):c.353+1G>A rs113517055
NM_000535.7(PMS2):c.353+2T>C rs111466480
NM_000535.7(PMS2):c.354-2A>G rs786202098
NM_000535.7(PMS2):c.538-2A>G rs758304323
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342
NM_000535.7(PMS2):c.705+1G>C
NM_000535.7(PMS2):c.803+1G>T rs1562669585
NM_000535.7(PMS2):c.804-1G>A rs1562664845
NM_000535.7(PMS2):c.825A>G (p.Gln275=) rs876659736
NM_000535.7(PMS2):c.903+1G>C rs1554300689
NM_000535.7(PMS2):c.903+2T>C rs878854059
NM_000535.7(PMS2):c.903G>A (p.Lys301=) rs267608153
NM_000535.7(PMS2):c.904-2A>G rs587781339
NM_000535.7(PMS2):c.9_23+7del rs1562711587
Single allele

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