ClinVar Miner

List of variants reported as uncertain significance for colonic neoplasm

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 116
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HGVS dbSNP
NM_000038.5(APC):c.-30226A>G rs189807660
NM_000038.5(APC):c.-30354G>C rs543098847
NM_000038.5(APC):c.-30430A>G rs554351451
NM_000038.6(APC):c.10G>C (p.Ala4Pro) rs774219012
NM_000038.6(APC):c.1463T>C (p.Leu488Pro) rs368434773
NM_000038.6(APC):c.1553C>T (p.Thr518Met) rs371453363
NM_000038.6(APC):c.1606G>A (p.Glu536Lys) rs138098808
NM_000038.6(APC):c.1762G>A (p.Val588Ile) rs372416031
NM_000038.6(APC):c.1803G>C (p.Glu601Asp) rs1447250546
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys) rs186641437
NM_000038.6(APC):c.2986A>G (p.Ser996Gly) rs1554084628
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg) rs149353082
NM_000038.6(APC):c.3381G>C (p.Gln1127His) rs1554084977
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995
NM_000038.6(APC):c.3716G>A (p.Arg1239Lys) rs754067085
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828
NM_000038.6(APC):c.4847A>T (p.Lys1616Ile) rs1554086241
NM_000038.6(APC):c.5026_5028del (p.Arg1676del) rs768369050
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu) rs769273526
NM_000038.6(APC):c.5267C>T (p.Ser1756Phe) rs773178712
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075
NM_000038.6(APC):c.5478G>C (p.Lys1826Asn) rs768922376
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600
NM_000038.6(APC):c.6257C>G (p.Pro2086Arg) rs786202975
NM_000038.6(APC):c.6553A>G (p.Ser2185Gly) rs1060503292
NM_000038.6(APC):c.6639G>A (p.Met2213Ile) rs35540155
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478
NM_000038.6(APC):c.6736G>A (p.Val2246Ile) rs1055180096
NM_000038.6(APC):c.6893C>T (p.Ala2298Val) rs1554087829
NM_000038.6(APC):c.6994G>A (p.Gly2332Ser) rs1389311736
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935
NM_000038.6(APC):c.7166G>A (p.Ser2389Asn) rs779287035
NM_000038.6(APC):c.7172T>G (p.Ile2391Ser) rs747797803
NM_000038.6(APC):c.757G>A (p.Gly253Ser) rs772806807
NM_000038.6(APC):c.7832C>T (p.Thr2611Ile) rs587778037
NM_000038.6(APC):c.791A>G (p.Gln264Arg) rs369345931
NM_000038.6(APC):c.8276G>A (p.Arg2759His) rs538289470
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) rs147287751
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly) rs780049836
NM_000142.4(FGFR3):c.1993G>T (p.Ala665Ser) rs764892330
NM_000142.4(FGFR3):c.200G>A (p.Gly67Asp) rs369232922
NM_000142.4(FGFR3):c.2153A>G (p.Asn718Ser) rs139773438
NM_000546.5(TP53):c.1060C>A (p.Gln354Lys) rs755394212
NM_000546.5(TP53):c.461G>A (p.Gly154Asp) rs762846821
NM_000546.5(TP53):c.466C>T (p.Arg156Cys) rs563378859
NM_000546.5(TP53):c.760A>G (p.Ile254Val) rs746601313
NM_000546.5(TP53):c.843C>A (p.Asp281Glu) rs1057519984
NM_000546.5(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_001128425.1(MUTYH):c.1090C>T (p.Arg364Cys) rs151316420
NM_001128425.1(MUTYH):c.1276C>T (p.Arg426Cys) rs150792276
NM_001128425.1(MUTYH):c.1420C>T (p.Arg474Cys) rs200229669
NM_001128425.1(MUTYH):c.933+3A>C rs587780751
NM_001211.5(BUB1B):c.1001C>T (p.Pro334Leu) rs141953425
NM_001211.5(BUB1B):c.1361A>G (p.Lys454Arg) rs373256667
NM_001211.5(BUB1B):c.1453G>A (p.Glu485Lys) rs770704003
NM_001211.5(BUB1B):c.1478C>T (p.Thr493Ile) rs146795655
NM_001211.5(BUB1B):c.1630C>T (p.Pro544Ser) rs138332995
NM_001211.5(BUB1B):c.737G>A (p.Gly246Glu) rs1407334063
NM_001211.5(BUB1B):c.805A>G (p.Asn269Asp) rs148159407
NM_001256849.1(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_001429.4(EP300):c.1540A>G (p.Met514Val) rs765266179
NM_001429.4(EP300):c.2348C>T (p.Ala783Val) rs755619355
NM_002019.4(FLT1):c.2439_2466del (p.Tyr815fs) rs796052115
NM_002253.3(KDR):c.2380G>A (p.Gly794Arg) rs795902896
NM_002253.3(KDR):c.2509+20T>A rs795902897
NM_002253.3(KDR):c.2510-27del rs795902898
NM_002253.3(KDR):c.2544G>T (p.Val848=) rs795902899
NM_002253.3(KDR):c.2598A>C (p.Ala866=) rs795939486
NM_002253.3(KDR):c.2615-23C>T rs778886056
NM_002253.3(KDR):c.2656C>A (p.Leu886Ile) rs794729676
NM_002253.3(KDR):c.2676T>A (p.Ile892=) rs794729677
NM_002253.3(KDR):c.2705T>A (p.Leu902Gln) rs794729678
NM_002253.3(KDR):c.2721G>C (p.Lys907Asn) rs200773668
NM_002253.3(KDR):c.3405-4C>T rs370501217
NM_002253.3(KDR):c.3441C>G (p.Pro1147=) rs795939487
NM_002253.3(KDR):c.3465G>A (p.Glu1155=) rs795939488
NM_002253.3(KDR):c.3487C>T (p.Leu1163Phe) rs761176323
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590
NM_004655.4(AXIN2):c.1093G>A (p.Val365Met) rs761901627
NM_004655.4(AXIN2):c.1222G>A (p.Glu408Lys) rs749846538
NM_004655.4(AXIN2):c.1363C>G (p.Pro455Ala) rs779863826
NM_004655.4(AXIN2):c.1553A>G (p.Tyr518Cys) rs368289818
NM_004655.4(AXIN2):c.1651T>C (p.Cys551Arg) rs730881398
NM_004655.4(AXIN2):c.1708T>G (p.Phe570Val) rs373442399
NM_004655.4(AXIN2):c.1744A>G (p.Asn582Asp) rs567511335
NM_004655.4(AXIN2):c.2000G>A (p.Ser667Asn) rs878854724
NM_004655.4(AXIN2):c.2182G>A (p.Ala728Thr) rs141260153
NM_004655.4(AXIN2):c.2216A>G (p.Asn739Ser) rs547630327
NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly) rs61762969
NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg) rs113613074
NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile) rs755969956
NM_006231.3(POLE):c.1396A>G (p.Thr466Ala) rs761765763
NM_144997.7(FLCN):c.1309G>C (p.Val437Leu) rs772207015
NM_144997.7(FLCN):c.134C>G (p.Ala45Gly) rs556510460
NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln) rs748878853
NM_144997.7(FLCN):c.451G>A (p.Val151Met) rs147164515
NM_182925.5(FLT4):c.2407-6C>G rs796052107
NM_182925.5(FLT4):c.2407-7C>T rs796052108
NM_182925.5(FLT4):c.2414A>C (p.His805Pro) rs796052106
NM_182925.5(FLT4):c.2433C>A (p.Gly811=) rs796052105
NM_182925.5(FLT4):c.2470C>A (p.Leu824Met) rs796052104
NM_182925.5(FLT4):c.2496C>G (p.Ser832=) rs796052103
NM_182925.5(FLT4):c.2498A>C (p.Tyr833Ser) rs796052102
NM_182925.5(FLT4):c.2502T>A (p.Asp834Glu) rs796052101
NM_182925.5(FLT4):c.2507G>A (p.Ser836Asn) rs796052100
NM_182925.5(FLT4):c.2519del (p.Phe840fs) rs796052099
NM_182925.5(FLT4):c.2542+12A>G rs751737827
NM_182925.5(FLT4):c.2542+18del rs796052098
NM_182925.5(FLT4):c.2542+20del rs796052097
NM_182925.5(FLT4):c.2647+31del rs796052109
NM_182925.5(FLT4):c.3002-9A>C rs796052114
NM_182925.5(FLT4):c.3056del (p.Phe1019fs) rs796052113
NM_182925.5(FLT4):c.3064del (p.Ala1022fs) rs796052112
NM_182925.5(FLT4):c.3065C>T (p.Ala1022Val) rs56364366
NM_182925.5(FLT4):c.3072del (p.Met1025fs) rs796052111
NM_182925.5(FLT4):c.3076del (p.Glu1026fs) rs796052110

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