ClinVar Miner

List of variants reported as pathogenic for colonic neoplasm

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 95
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HGVS dbSNP
NC_000003.11:g.37035001_37041000del
NM_000038.6(APC):c.1660C>T (p.Arg554Ter) rs137854573
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.3867T>A (p.Cys1289Ter) rs1554085355
NM_000038.6(APC):c.3922_3926AAAGA[1] (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.4012C>T (p.Gln1338Ter) rs121913327
NM_000038.6(APC):c.4901del (p.Pro1634fs) rs1057518901
NM_000038.6(APC):c.637C>T (p.Arg213Ter) rs587781392
NM_000038.6(APC):c.646C>T (p.Arg216Ter) rs62619935
NM_000038.6(APC):c.694C>T (p.Arg232Ter) rs397515734
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630
NM_000038.6(APC):c.847C>T (p.Arg283Ter) rs786201856
NM_000038.6(APC):c.933+1G>A rs876660765
NM_000142.4(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.4(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.4(FGFR3):c.1949A>C (p.Lys650Thr) rs121913105
NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.4(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000142.4(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000142.4(FGFR3):c.850del (p.His284fs) rs587776836
NM_000142.4(FGFR3):c.964G>A (p.Glu322Lys) rs121913111
NM_000179.2(MSH6):c.1808dup (p.Glu604fs) rs1553413200
NM_000249.3(MLH1):c.1236_1237CA[1] (p.Thr413fs) rs1553651073
NM_000249.3(MLH1):c.1334_1335AG[1] (p.Ser446fs) rs1114167435
NM_000249.3(MLH1):c.1667+1G>A rs1434898623
NM_000249.3(MLH1):c.497dup (p.Leu166fs) rs587779018
NM_000249.3(MLH1):c.503dup (p.Asn168fs) rs63749959
NM_000249.3(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.3(MLH1):c.806C>G (p.Ser269Ter) rs63750691
NM_000249.3(MLH1):c.887T>G (p.Leu296Ter) rs63750547
NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.2(MSH2):c.1457_1460delATGA rs1114167806
NM_000251.2(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.2(MSH2):c.2382del (p.Pro795fs)
NM_000251.2(MSH2):c.892C>T (p.Gln298Ter) rs63750934
NM_000535.7(PMS2):c.1053del (p.Leu351fs) rs1554298756
NM_000546.5(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.5(TP53):c.559+1G>A rs1131691042
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.96+1G>T rs1131691003
NM_001040108.1(MLH3):c.2482G>T (p.Glu828Ter) rs587776622
NM_001085377.2(MCC):c.2087G>A (p.Arg696Gln) rs121917732
NM_001085377.2(MCC):c.2663C>T (p.Ala888Val) rs121917731
NM_001128425.1(MUTYH):c.1147del (p.Ala385fs) rs587778536
NM_001128425.1(MUTYH):c.1171C>T (p.Gln391Ter) rs587783057
NM_001128425.1(MUTYH):c.1187-2A>G rs587781628
NM_001128425.1(MUTYH):c.1187G>A (p.Gly396Asp) rs36053993
NM_001128425.1(MUTYH):c.1214C>T (p.Pro405Leu) rs529008617
NM_001128425.1(MUTYH):c.1227_1228dup (p.Glu410fs) rs587780078
NM_001128425.1(MUTYH):c.536A>G (p.Tyr179Cys) rs34612342
NM_001128425.1(MUTYH):c.55C>T (p.Arg19Ter) rs587780088
NM_001211.5(BUB1B):c.119C>T (p.Thr40Met) rs56079734
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter) rs137853038
NM_001429.4(EP300):c.2983G>T (p.Glu995Ter) rs1555909666
NM_001429.4(EP300):c.6662C>A (p.Pro2221Gln) rs28937578
NM_001904.4(CTNNB1):c.133_135del (p.Ser45del) rs587776850
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter) rs775104326
NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) rs121913400
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002835.4(PTPN12):c.182A>G (p.Lys61Arg) rs121434623
NM_002843.4(PTPRJ):c.640C>T (p.Arg214Cys) rs121434507
NM_002843.4(PTPRJ):c.827A>C (p.Gln276Pro) rs1566734
NM_003579.4(RAD54L):c.188C>A (p.Pro63His) rs121908688
NM_003921.5(BCL10):c.136dup (p.Ile46fs) rs387906351
NM_004333.6(BRAF):c.1385G>T (p.Arg462Ile) rs180177032
NM_004333.6(BRAF):c.1388T>G (p.Ile463Ser) rs180177033
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) rs121913364
NM_004336.5(BUB1):c.1475C>A (p.Ser492Tyr) rs121909055
NM_004336.5(BUB1):c.3069del (p.His1024fs) rs587776642
NM_004336.5(BUB1):c.422+1G>A rs794729661
NM_004655.4(AXIN2):c.1994del (p.Gly665fs) rs267606674
NM_004655.4(AXIN2):c.2116G>T (p.Glu706Ter) rs121908567
NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_005215.4(DCC):c.4124C>A (p.Pro1375His) rs387906555
NM_006207.2(PDGFRL):c.67C>T (p.His23Tyr) rs137853148
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_012415.3(RAD54B):c.1252G>T (p.Asp418Tyr) rs119490107
NM_138712.3(PPARG):c.472del (p.Ser158fs) rs587776687
NM_138712.3(PPARG):c.857A>C (p.Gln286Pro) rs121909242
NM_138712.3(PPARG):c.863G>A (p.Arg288His) rs28936407
NM_138712.3(PPARG):c.955A>T (p.Lys319Ter) rs121909243
NM_138761.4(BAX):c.121del (p.Glu41fs) rs398122840
NM_138761.4(BAX):c.121dup (p.Glu41fs) rs398122840
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter) rs879255678
NM_144997.7(FLCN):c.236C>G (p.Ser79Trp) rs137852930
NM_182643.3(DLC1):c.2875A>G (p.Thr959Ala) rs121908500
m.3308T>C rs28358582

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