ClinVar Miner

Variants in gene POLE with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
1698 671 0 91 98 2 9 187

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor
pathogenic 0 1 5 0 0 0 1
likely pathogenic 1 0 4 0 0 1 0
uncertain significance 5 4 0 98 12 1 0
likely benign 0 0 98 0 90 0 0
benign 0 0 12 90 0 0 0
drug response 0 1 1 0 0 0 0
risk factor 1 0 0 0 0 0 0

All variants with conflicting interpretations #

Total variants: 187
Download table as spreadsheet
HGVS dbSNP
NM_006231.3(POLE):c.-6G>A rs534524789
NM_006231.3(POLE):c.1007A>G (p.Asn336Ser) rs5744760
NM_006231.3(POLE):c.1015G>A (p.Asp339Asn) rs149029910
NM_006231.3(POLE):c.1021G>T (p.Ala341Ser) rs137860861
NM_006231.3(POLE):c.1051G>A (p.Val351Ile) rs759414746
NM_006231.3(POLE):c.1106+7C>A rs369889926
NM_006231.3(POLE):c.123G>A (p.Thr41=) rs5744734
NM_006231.3(POLE):c.1242C>T (p.Asp414=) rs775213170
NM_006231.3(POLE):c.1270C>G (p.Leu424Val) rs483352909
NM_006231.3(POLE):c.1282G>A (p.Ala428Thr) rs150032060
NM_006231.3(POLE):c.1288G>A (p.Ala430Thr) rs140566004
NM_006231.3(POLE):c.1323G>A (p.Pro441=) rs116573514
NM_006231.3(POLE):c.1347G>A (p.Thr449=) rs142373951
NM_006231.3(POLE):c.1359+18C>T rs5744775
NM_006231.3(POLE):c.1359+9G>A rs75135381
NM_006231.3(POLE):c.1360-6C>T rs139836643
NM_006231.3(POLE):c.139C>T (p.Arg47Trp) rs143626223
NM_006231.3(POLE):c.1405C>T (p.Leu469=) rs368303888
NM_006231.3(POLE):c.1420G>A (p.Val474Ile) rs980578884
NM_006231.3(POLE):c.1470C>T (p.Asp490=) rs5744777
NM_006231.3(POLE):c.1534G>A (p.Ala512Thr) rs113998091
NM_006231.3(POLE):c.155G>A (p.Arg52Gln) rs372459649
NM_006231.3(POLE):c.1560A>G (p.Gln520=) rs201841065
NM_006231.3(POLE):c.1608T>C (p.Ser536=) rs763078534
NM_006231.3(POLE):c.1687-4C>T rs375705244
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_006231.3(POLE):c.1707C>G (p.Phe569Leu) rs147438050
NM_006231.3(POLE):c.1740C>T (p.His580=) rs114972594
NM_006231.3(POLE):c.1794+5C>T rs200095915
NM_006231.3(POLE):c.1924-23_1927del27 rs1064795679
NM_006231.3(POLE):c.1924-5C>T rs878854846
NM_006231.3(POLE):c.1924-6T>C rs755311168
NM_006231.3(POLE):c.1924-6del rs758112633
NM_006231.3(POLE):c.1A>T (p.Met1Leu) rs878854847
NM_006231.3(POLE):c.2016G>A (p.Arg672=) rs991583405
NM_006231.3(POLE):c.2026+9C>T rs373790607
NM_006231.3(POLE):c.2049C>G (p.Tyr683Ter)
NM_006231.3(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_006231.3(POLE):c.2089C>G (p.Pro697Ala) rs5744800
NM_006231.3(POLE):c.2089C>T (p.Pro697Ser) rs5744800
NM_006231.3(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.3(POLE):c.2106G>T (p.Gly702=) rs5744801
NM_006231.3(POLE):c.2172G>A (p.Ala724=) rs372240734
NM_006231.3(POLE):c.2174-11G>A rs111570840
NM_006231.3(POLE):c.2174-8G>A rs117409343
NM_006231.3(POLE):c.2262C>T (p.Tyr754=) rs145337550
NM_006231.3(POLE):c.2271C>T (p.Thr757=) rs765532123
NM_006231.3(POLE):c.2292G>A (p.Arg764=) rs1555227097
NM_006231.3(POLE):c.2340G>A (p.Ser780=) rs5744822
NM_006231.3(POLE):c.2463C>T (p.Arg821=) rs751392565
NM_006231.3(POLE):c.2468+10C>T rs5744823
NM_006231.3(POLE):c.2510T>C (p.Phe837Ser) rs139182500
NM_006231.3(POLE):c.2550C>T (p.Ile850=) rs5744834
NM_006231.3(POLE):c.2561+6T>C rs116231808
NM_006231.3(POLE):c.2602C>T (p.Leu868=) rs115830215
NM_006231.3(POLE):c.2682C>T (p.Gly894=) rs757453683
NM_006231.3(POLE):c.2707-9G>A rs1057521516
NM_006231.3(POLE):c.2781C>T (p.Asn927=) rs775486303
NM_006231.3(POLE):c.2864+3G>A rs1060500856
NM_006231.3(POLE):c.2928C>T (p.Arg976=) rs5744845
NM_006231.3(POLE):c.2932G>T (p.Glu978Ter) rs1555225958
NM_006231.3(POLE):c.2935C>T (p.Leu979=) rs56081968
NM_006231.3(POLE):c.2964G>A (p.Ser988=) rs200080353
NM_006231.3(POLE):c.296C>T (p.Pro99Leu) rs5744739
NM_006231.3(POLE):c.2974G>A (p.Ala992Thr) rs115193764
NM_006231.3(POLE):c.2982C>T (p.Leu994=) rs771463033
NM_006231.3(POLE):c.3019G>C (p.Ala1007Pro) rs747692201
NM_006231.3(POLE):c.3046G>A (p.Val1016Met) rs147692158
NM_006231.3(POLE):c.3090C>T (p.Phe1030=) rs766306895
NM_006231.3(POLE):c.3126G>A (p.Lys1042=) rs5744856
NM_006231.3(POLE):c.3219G>T (p.Gly1073=) rs760636704
NM_006231.3(POLE):c.3265_3275+15dup rs1555225627
NM_006231.3(POLE):c.3270G>A (p.Thr1090=) rs758258927
NM_006231.3(POLE):c.3275+16A>G rs5744858
NM_006231.3(POLE):c.330+3G>A rs369152225
NM_006231.3(POLE):c.3373C>T (p.Arg1125Ter) rs139603739
NM_006231.3(POLE):c.3378+10A>G rs193075152
NM_006231.3(POLE):c.3378+7G>T rs755370377
NM_006231.3(POLE):c.3379-5T>C rs5744886
NM_006231.3(POLE):c.3582+6G>A rs113307290
NM_006231.3(POLE):c.3718G>A (p.Glu1240Lys) rs113594027
NM_006231.3(POLE):c.3747G>A (p.Val1249=) rs80290414
NM_006231.3(POLE):c.3763T>C (p.Leu1255=) rs745838504
NM_006231.3(POLE):c.3851G>A (p.Arg1284Gln) rs149462407
NM_006231.3(POLE):c.3862G>A (p.Ala1288Thr) rs200398117
NM_006231.3(POLE):c.3881G>A (p.Arg1294His) rs115455318
NM_006231.3(POLE):c.3904C>T (p.Leu1302Phe) rs1555223949
NM_006231.3(POLE):c.3913G>A (p.Gly1305Arg) rs563990655
NM_006231.3(POLE):c.391G>T (p.Val131Leu) rs745601745
NM_006231.3(POLE):c.3939G>A (p.Thr1313=) rs150282789
NM_006231.3(POLE):c.4047G>A (p.Ala1349=) rs201746181
NM_006231.3(POLE):c.4057A>G (p.Ser1353Gly) rs141619382
NM_006231.3(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933
NM_006231.3(POLE):c.4236C>T (p.Asn1412=) rs377245595
NM_006231.3(POLE):c.4237G>A (p.Glu1413Lys) rs372901803
NM_006231.3(POLE):c.4246G>A (p.Ala1416Thr) rs146711942
NM_006231.3(POLE):c.4259C>T (p.Ala1420Val) rs41561818
NM_006231.3(POLE):c.4290+5C>T rs5744936
NM_006231.3(POLE):c.4370G>T (p.Gly1457Val) rs776534749
NM_006231.3(POLE):c.4371C>T (p.Gly1457=) rs771489059
NM_006231.3(POLE):c.4461C>T (p.Ile1487=) rs536917758
NM_006231.3(POLE):c.4494G>A (p.Ala1498=) rs777611171
NM_006231.3(POLE):c.4523G>A (p.Arg1508His) rs142508245
NM_006231.3(POLE):c.4534G>A (p.Val1512Ile) rs147354120
NM_006231.3(POLE):c.4541T>C (p.Val1514Ala) rs116742454
NM_006231.3(POLE):c.4551T>G (p.Thr1517=) rs1033333357
NM_006231.3(POLE):c.461G>A (p.Arg154Lys) rs769882912
NM_006231.3(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006231.3(POLE):c.4680C>T (p.Asp1560=) rs774425403
NM_006231.3(POLE):c.4719C>T (p.Leu1573=) rs115219846
NM_006231.3(POLE):c.4730A>C (p.Glu1577Ala) rs5744948
NM_006231.3(POLE):c.4731G>A (p.Glu1577=) rs772361606
NM_006231.3(POLE):c.4941C>T (p.Phe1647=) rs145639967
NM_006231.3(POLE):c.4952+17_4952+19dupCGT rs571641918
NM_006231.3(POLE):c.5124C>T (p.Phe1708=) rs114891564
NM_006231.3(POLE):c.5130C>T (p.Asp1710=) rs1340452589
NM_006231.3(POLE):c.5135C>T (p.Ala1712Val) rs5744950
NM_006231.3(POLE):c.5174-6G>C rs770466844
NM_006231.3(POLE):c.51C>G (p.Gly17=) rs780436496
NM_006231.3(POLE):c.5265del (p.Ile1756Serfs) rs1555222342
NM_006231.3(POLE):c.5278G>A (p.Val1760Met) rs373272795
NM_006231.3(POLE):c.5334C>T (p.Ala1778=) rs11146986
NM_006231.3(POLE):c.5379-5T>C rs761910924
NM_006231.3(POLE):c.546C>T (p.His182=) rs115257501
NM_006231.3(POLE):c.5478G>T (p.Arg1826=) rs537648186
NM_006231.3(POLE):c.5496T>C (p.Leu1832=) rs147543146
NM_006231.3(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006231.3(POLE):c.5583A>C (p.Ser1861=) rs5744972
NM_006231.3(POLE):c.561C>T (p.Tyr187=) rs143938822
NM_006231.3(POLE):c.5636G>A (p.Arg1879His) rs145621558
NM_006231.3(POLE):c.5659G>A (p.Val1887Met) rs114119067
NM_006231.3(POLE):c.5678+4C>T rs5744973
NM_006231.3(POLE):c.5769C>T (p.Gly1923=) rs375198950
NM_006231.3(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991
NM_006231.3(POLE):c.5811+13C>T rs150195182
NM_006231.3(POLE):c.5811+16T>C rs115381003
NM_006231.3(POLE):c.5812-4A>G rs377036606
NM_006231.3(POLE):c.5912A>G (p.Asn1971Ser) rs772127913
NM_006231.3(POLE):c.6004+5G>T rs372169366
NM_006231.3(POLE):c.6012C>T (p.Ile2004=) rs147806951
NM_006231.3(POLE):c.602T>C (p.Ile201Thr) rs375209004
NM_006231.3(POLE):c.6135C>T (p.Pro2045=) rs368662693
NM_006231.3(POLE):c.6156G>A (p.Gln2052=) rs149841283
NM_006231.3(POLE):c.6271C>T (p.Pro2091Ser) rs572252265
NM_006231.3(POLE):c.6331-8C>T rs769766403
NM_006231.3(POLE):c.6334C>T (p.Leu2112=) rs373443211
NM_006231.3(POLE):c.6405C>T (p.Val2135=) rs139607077
NM_006231.3(POLE):c.6408C>T (p.Gly2136=) rs1057524549
NM_006231.3(POLE):c.6418G>A (p.Glu2140Lys) rs5745066
NM_006231.3(POLE):c.6453C>T (p.Tyr2151=) rs116076060
NM_006231.3(POLE):c.6494G>A (p.Arg2165His) rs5745068
NM_006231.3(POLE):c.6495C>T (p.Arg2165=) rs114778730
NM_006231.3(POLE):c.6531+6G>T rs774747998
NM_006231.3(POLE):c.6539C>T (p.Ala2180Val) rs552452448
NM_006231.3(POLE):c.6597C>A (p.Ile2199=) rs147611144
NM_006231.3(POLE):c.6597C>T (p.Ile2199=) rs147611144
NM_006231.3(POLE):c.6623delA (p.Gln2208Argfs) rs1555301070
NM_006231.3(POLE):c.664C>T (p.Arg222Cys)
NM_006231.3(POLE):c.6658-7C>A rs531482240
NM_006231.3(POLE):c.6668A>G (p.Lys2223Arg) rs367970442
NM_006231.3(POLE):c.6675C>T (p.Arg2225=) rs149973644
NM_006231.3(POLE):c.6714C>T (p.Cys2238=) rs200082120
NM_006231.3(POLE):c.6716C>T (p.Ala2239Val) rs190813054
NM_006231.3(POLE):c.6763A>T (p.Ile2255Phe) rs73155056
NM_006231.3(POLE):c.6766G>A (p.Gly2256Arg) rs116323660
NM_006231.3(POLE):c.6777G>C (p.Arg2259=) rs540203276
NM_006231.3(POLE):c.6777G>T (p.Arg2259=) rs540203276
NM_006231.3(POLE):c.6795C>T (p.Tyr2265=) rs142222159
NM_006231.3(POLE):c.6817A>T (p.Thr2273Ser) rs73481453
NM_006231.3(POLE):c.6820C>G (p.Leu2274Val) rs148788180
NM_006231.3(POLE):c.6831G>T (p.Leu2277=) rs145427269
NM_006231.3(POLE):c.720+6T>C rs751448342
NM_006231.3(POLE):c.721-4G>T rs765420775
NM_006231.3(POLE):c.721-9_721-8delGT rs752682384
NM_006231.3(POLE):c.776G>A (p.Arg259His) rs61732929
NM_006231.3(POLE):c.779G>A (p.Arg260Gln) rs5744752
NM_006231.3(POLE):c.844C>T (p.Pro282Ser) rs138207610
NM_006231.3(POLE):c.846C>T (p.Pro282=) rs5744758
NM_006231.3(POLE):c.84A>T (p.Ser28=) rs774280853
NM_006231.3(POLE):c.857C>G (p.Pro286Arg) rs1057519943
NM_006231.3(POLE):c.861T>A (p.Asp287Glu) rs139075637
NM_006231.3(POLE):c.90G>A (p.Ser30=) rs369224511
NM_006231.3(POLE):c.912C>T (p.Gly304=) rs1064794932
NM_006231.3(POLE):c.91G>T (p.Ala31Ser) rs34047482
NM_006231.3(POLE):c.940T>G (p.Ser314Ala) rs770403791
NM_006231.3(POLE):c.941C>G (p.Ser314Ter) rs869312803
NM_006231.3(POLE):c.942A>C (p.Ser314=) rs548933169

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