ClinVar Miner

List of variants in gene APC reported as pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 149
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HGVS dbSNP
NM_000038.5(APC):c.1312+3_1312+4delAT rs730881228
NM_000038.5:c.5844_5845delTGAAAAGinsGGAAAA
NM_000038.6(APC):c.1048_1141del (p.Ser350fs) rs1554079988
NM_000038.6(APC):c.1192_1193del (p.Lys398fs) rs387906238
NM_000038.6(APC):c.1210del (p.Ile404fs) rs1064794225
NM_000038.6(APC):c.1213C>T (p.Arg405Ter) rs587779780
NM_000038.6(APC):c.1239dup (p.Arg414fs) rs879254088
NM_000038.6(APC):c.1263G>A (p.Trp421Ter) rs1554080106
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.1336del (p.Ile446fs) rs1554080688
NM_000038.6(APC):c.136-2A>G rs886039625
NM_000038.6(APC):c.1370C>G (p.Ser457Ter) rs1060503333
NM_000038.6(APC):c.1409-1G>T rs863225313
NM_000038.6(APC):c.1409-2A>C rs1064794163
NM_000038.6(APC):c.1409-2_1409del rs1554081631
NM_000038.6(APC):c.1431dup (p.Leu478fs) rs1554081640
NM_000038.6(APC):c.147_150del (p.Lys49fs) rs587781694
NM_000038.6(APC):c.1495C>T (p.Arg499Ter) rs137854580
NM_000038.6(APC):c.1526del (p.Thr509fs) rs1064794092
NM_000038.6(APC):c.1548G>C (p.Lys516Asn) rs879254090
NM_000038.6(APC):c.1620del (p.Leu540fs) rs1554081921
NM_000038.6(APC):c.1620dup (p.Gln541fs) rs1131691555
NM_000038.6(APC):c.1621C>T (p.Gln541Ter) rs137854572
NM_000038.6(APC):c.1652del (p.Leu551fs) rs1554082100
NM_000038.6(APC):c.1660C>T (p.Arg554Ter) rs137854573
NM_000038.6(APC):c.1690C>T (p.Arg564Ter) rs137854574
NM_000038.6(APC):c.1705del (p.Ser568_Val569insTer) rs1554082135
NM_000038.6(APC):c.1778G>A (p.Trp593Ter) rs1064794226
NM_000038.6(APC):c.1834_1838del (p.Ala612fs) rs1554083160
NM_000038.6(APC):c.1854_1869del (p.Thr619fs) rs1554083164
NM_000038.6(APC):c.1862del (p.Thr621fs) rs1064795792
NM_000038.6(APC):c.1866C>G (p.Tyr622Ter) rs876658355
NM_000038.6(APC):c.1873C>T (p.Gln625Ter) rs876659517
NM_000038.6(APC):c.1886del (p.Thr628_Leu629insTer) rs863224817
NM_000038.6(APC):c.1958+3A>G rs879254032
NM_000038.6(APC):c.1970_1971GA[1] (p.Glu658fs) rs863225322
NM_000038.6(APC):c.1987C>T (p.Gln663Ter) rs730881240
NM_000038.6(APC):c.2004del (p.His668_Leu669insTer) rs587782303
NM_000038.6(APC):c.2077A>T (p.Lys693Ter) rs773985321
NM_000038.6(APC):c.2083del (p.Gln695fs) rs1554083941
NM_000038.6(APC):c.221-2A>G rs786201291
NM_000038.6(APC):c.233_236del (p.Asp78fs) rs1064793020
NM_000038.6(APC):c.2365C>T (p.Gln789Ter) rs398123117
NM_000038.6(APC):c.2395del (p.Tyr799fs) rs879254110
NM_000038.6(APC):c.2395dup (p.Tyr799fs) rs879254110
NM_000038.6(APC):c.2483del (p.Thr828fs) rs886042600
NM_000038.6(APC):c.249del (p.Gly84fs) rs878853428
NM_000038.6(APC):c.2507_2511delinsG (p.Ser835_Ser836insTer) rs1554084228
NM_000038.6(APC):c.2527_2530del (p.Ser843fs) rs879254091
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) rs398123118
NM_000038.6(APC):c.2567dup (p.Gly857fs) rs1554084266
NM_000038.6(APC):c.2626C>T (p.Arg876Ter) rs121913333
NM_000038.6(APC):c.2677G>T (p.Glu893Ter) rs199740875
NM_000038.6(APC):c.2680_2686dup (p.Ala896fs) rs587781910
NM_000038.6(APC):c.271del (p.Met91fs) rs1554069710
NM_000038.6(APC):c.2804dup (p.Tyr935Ter) rs863225332
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.2805C>G (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.2853del (p.Pro950_Tyr951insTer) rs1554084541
NM_000038.6(APC):c.2859dup (p.Leu954fs) rs1554084547
NM_000038.6(APC):c.288T>A (p.Tyr96Ter) rs376213437
NM_000038.6(APC):c.2964_2965delinsT (p.Glu988fs) rs1064795724
NM_000038.6(APC):c.3088A>T (p.Lys1030Ter) rs587779786
NM_000038.6(APC):c.3123_3124del (p.Pro1043fs) rs1554084712
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.3202_3205del (p.Ser1068fs) rs587779353
NM_000038.6(APC):c.3293_3294GT[1] (p.Val1099fs) rs1064794228
NM_000038.6(APC):c.3306C>A (p.Tyr1102Ter) rs879254092
NM_000038.6(APC):c.3335_3336del (p.Thr1112fs) rs1064793778
NM_000038.6(APC):c.3391C>T (p.Gln1131Ter) rs878853438
NM_000038.6(APC):c.341del (p.Pro114fs) rs1064793021
NM_000038.6(APC):c.3427_3428TA[3] (p.Ser1144fs) rs879254148
NM_000038.6(APC):c.3472A>T (p.Arg1158Ter) rs587779790
NM_000038.6(APC):c.3473_3474insGA (p.Pro1159fs) rs730881272
NM_000038.6(APC):c.350C>A (p.Ser117Ter) rs1064793535
NM_000038.6(APC):c.3593C>G (p.Ser1198Ter) rs879254089
NM_000038.6(APC):c.3602C>G (p.Ser1201Ter) rs730881247
NM_000038.6(APC):c.3805_3806AT[1] (p.Ile1269fs) rs786203760
NM_000038.6(APC):c.3810T>A (p.Cys1270Ter) rs863225347
NM_000038.6(APC):c.3815C>G (p.Ser1272Ter) rs863225348
NM_000038.6(APC):c.3867T>A (p.Cys1289Ter) rs1554085355
NM_000038.6(APC):c.386_387insT (p.Glu129fs) rs1554069831
NM_000038.6(APC):c.3901dup (p.Thr1301fs) rs1554085382
NM_000038.6(APC):c.3904del (p.Leu1302fs) rs1064794042
NM_000038.6(APC):c.3920_3924del (p.Ile1307fs) rs1064794229
NM_000038.6(APC):c.3922_3926AAAGA[1] (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.3956del (p.Pro1319fs) rs1057517558
NM_000038.6(APC):c.3982C>T (p.Gln1328Ter) rs398123121
NM_000038.6(APC):c.4025dup (p.Leu1342fs) rs863225351
NM_000038.6(APC):c.4033G>T (p.Glu1345Ter) rs1211642532
NM_000038.6(APC):c.4059_4060insG (p.Phe1354fs) rs1064795861
NM_000038.6(APC):c.417_418AG[2] (p.Arg141fs) rs1554069850
NM_000038.6(APC):c.423-2A>T rs879254087
NM_000038.6(APC):c.426_427del (p.Leu143fs) rs587782557
NM_000038.6(APC):c.4319del (p.Pro1440fs) rs1131691145
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) rs121913332
NM_000038.6(APC):c.4385_4386AG[4] (p.Ser1465fs) rs387906234
NM_000038.6(APC):c.4468del (p.His1490fs) rs1554085898
NM_000038.6(APC):c.448A>T (p.Lys150Ter) rs878853444
NM_000038.6(APC):c.450_453del (p.Glu151fs) rs863225355
NM_000038.6(APC):c.453del (p.Glu152fs) rs863224820
NM_000038.6(APC):c.4585C>T (p.Gln1529Ter) rs1554085992
NM_000038.6(APC):c.4669_4670del (p.Thr1556_Ile1557insTer) rs786201118
NM_000038.6(APC):c.475dup (p.Tyr159fs) rs863225361
NM_000038.6(APC):c.476dup (p.Tyr159Ter) rs878853451
NM_000038.6(APC):c.4778_4779insT (p.Lys1593fs) rs1064795475
NM_000038.6(APC):c.4778del (p.Lys1593fs) rs1554086185
NM_000038.6(APC):c.477C>G (p.Tyr159Ter) rs863224281
NM_000038.6(APC):c.477del (p.Tyr158_Tyr159insTer) rs730880250
NM_000038.6(APC):c.4831C>T (p.Gln1611Ter) rs774847203
NM_000038.6(APC):c.4875del (p.Gln1625fs) rs587779794
NM_000038.6(APC):c.487C>T (p.Gln163Ter) rs863225362
NM_000038.6(APC):c.4969_4970insG (p.Leu1657fs) rs1554086338
NM_000038.6(APC):c.5145del (p.Asp1715fs) rs863225363
NM_000038.6(APC):c.531+1G>C rs876659973
NM_000038.6(APC):c.531+5G>A rs587779798
NM_000038.6(APC):c.531+5G>C rs587779798
NM_000038.6(APC):c.541C>T (p.Gln181Ter) rs863225366
NM_000038.6(APC):c.5490_5493del (p.Asn1830fs) rs730881273
NM_000038.6(APC):c.5562del (p.Cys1855fs) rs1064793363
NM_000038.6(APC):c.5572C>T (p.Arg1858Ter) rs1270783041
NM_000038.6(APC):c.5764C>T (p.Gln1922Ter) rs1064793024
NM_000038.6(APC):c.5804dup (p.Ser1936fs) rs863225367
NM_000038.6(APC):c.5822_5825CAGA[1] (p.Asp1942fs) rs864622228
NM_000038.6(APC):c.5839del (p.Thr1947fs) rs1064793969
NM_000038.6(APC):c.583C>T (p.Gln195Ter) rs749479682
NM_000038.6(APC):c.5936_5939del (p.Asn1979fs) rs587781330
NM_000038.6(APC):c.6281del (p.Pro2094fs) rs876660816
NM_000038.6(APC):c.637C>T (p.Arg213Ter) rs587781392
NM_000038.6(APC):c.6381del (p.Ala2128fs) rs1554087379
NM_000038.6(APC):c.6383del (p.Ala2128fs) rs587779803
NM_000038.6(APC):c.643C>T (p.Gln215Ter) rs137854577
NM_000038.6(APC):c.646C>T (p.Arg216Ter) rs62619935
NM_000038.6(APC):c.6510del (p.Glu2172fs) rs1554087474
NM_000038.6(APC):c.667C>T (p.Gln223Ter) rs1554074738
NM_000038.6(APC):c.6709C>T (p.Arg2237Ter) rs768922431
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.74_75del (p.Gln25fs) rs1554067124
NM_000038.6(APC):c.7946_7955del (p.Pro2649fs) rs1554088780
NM_000038.6(APC):c.7959_7962del (p.Thr2654fs) rs1554088793
NM_000038.6(APC):c.835-8A>G rs1064793022
NM_000038.6(APC):c.847C>T (p.Arg283Ter) rs786201856
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568
NM_000038.6(APC):c.931A>T (p.Lys311Ter) rs1064794114
NM_000038.6(APC):c.935dup (p.Glu313fs) rs587781451
NM_000038.6(APC):c.937_938del (p.Glu313fs) rs387906239
NM_000038.6(APC):c.956del (p.Leu319fs) rs1064793530
NM_000038.6(APC):c.994C>T (p.Arg332Ter) rs775126020

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