ClinVar Miner

Variants in gene PMS2 with conflicting interpretations

See also:
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 per condition Variants with at least 2 submissions on the same condition 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 conflict
2032 480 27 64 106 0 10 172

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
pathogenic 0 11 2 0 0
likely pathogenic 10 0 9 0 0
uncertain significance 2 10 9 98 20
likely benign 0 0 98 0 53
benign 0 0 20 53 18

All variants with conflicting interpretations #

Total variants: 172
Download table as spreadsheet
HGVS dbSNP
NM_000535.7(PMS2):c.*17G>C rs556089649
NM_000535.7(PMS2):c.-1C>A rs369681753
NM_000535.7(PMS2):c.-2C>T rs876658209
NM_000535.7(PMS2):c.-4A>G rs544503598
NM_000535.7(PMS2):c.-5C>A rs786202272
NM_000535.7(PMS2):c.-7T>C rs199660792
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014
NM_000535.7(PMS2):c.1076dup (p.Leu359fs) rs267608156
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met) rs567102013
NM_000535.7(PMS2):c.1096G>C (p.Asp366His) rs141769057
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile) rs746889239
NM_000535.7(PMS2):c.1145-10G>A rs533551639
NM_000535.7(PMS2):c.1169C>T (p.Ala390Val) rs587780039
NM_000535.7(PMS2):c.1199A>C (p.Gln400Pro) rs148069478
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly) rs745361721
NM_000535.7(PMS2):c.1209C>T (p.Ser403=) rs147399413
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del) rs863224676
NM_000535.7(PMS2):c.1248C>A (p.Ser416=) rs780709321
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175
NM_000535.7(PMS2):c.1280G>A (p.Arg427His) rs112902065
NM_000535.7(PMS2):c.1288A>G (p.Thr430Ala) rs587781382
NM_000535.7(PMS2):c.1309C>T (p.Pro437Ser) rs200726484
NM_000535.7(PMS2):c.1320A>G (p.Pro440=) rs138697590
NM_000535.7(PMS2):c.1344A>T (p.Gly448=) rs759192470
NM_000535.7(PMS2):c.1357A>G (p.Met453Val) rs587780722
NM_000535.7(PMS2):c.1361T>C (p.Leu454Pro) rs772659239
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg) rs141084758
NM_000535.7(PMS2):c.1399G>A (p.Val467Ile) rs373611083
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321
NM_000535.7(PMS2):c.1420G>T (p.Ala474Ser) rs373114291
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly) rs144389038
NM_000535.7(PMS2):c.1435C>G (p.His479Asp) rs376344586
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg) rs146848345
NM_000535.7(PMS2):c.1438G>C (p.Gly480Arg) rs146848345
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323
NM_000535.7(PMS2):c.1454C>T (p.Thr485Met) rs1805323
NM_000535.7(PMS2):c.1463C>T (p.Ala488Val) rs587779328
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853
NM_000535.7(PMS2):c.1488C>T (p.His496=) rs1805320
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859
NM_000535.7(PMS2):c.1501G>A (p.Val501Met) rs540287433
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln) rs368516768
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811
NM_000535.7(PMS2):c.1533G>A (p.Thr511=) rs542520309
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys) rs376142390
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His) rs370236216
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=) rs6972869
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300
NM_000535.7(PMS2):c.1560G>A (p.Ala520=) rs201167814
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772
NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly) rs143235330
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399
NM_000535.7(PMS2):c.1621= (p.Lys541=) rs2228006
NM_000535.7(PMS2):c.1629C>T (p.Asp543=) rs111673299
NM_000535.7(PMS2):c.1656T>C (p.His552=) rs113726095
NM_000535.7(PMS2):c.166C>G (p.Leu56Val) rs371011390
NM_000535.7(PMS2):c.1679G>A (p.Cys560Tyr) rs757989905
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln) rs63750668
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1688_1689delinsAG (p.Arg563Gln) rs587780725
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr) rs63751023
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser) rs63751211
NM_000535.7(PMS2):c.1720C>T (p.Pro574Ser) rs758018736
NM_000535.7(PMS2):c.1723A>G (p.Asn575Asp) rs142506484
NM_000535.7(PMS2):c.1733G>A (p.Arg578His) rs63750770
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile) rs63750947
NM_000535.7(PMS2):c.1765G>C (p.Asp589His) rs749727182
NM_000535.7(PMS2):c.1768A>G (p.Ile590Val) rs63750476
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318
NM_000535.7(PMS2):c.1798A>G (p.Met600Val) rs1304634005
NM_000535.7(PMS2):c.1806C>G (p.Ala602=) rs376046767
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585
NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu) rs199700509
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.7(PMS2):c.187G>A (p.Val63Met) rs772216832
NM_000535.7(PMS2):c.1883G>A (p.Arg628Gln) rs587780044
NM_000535.7(PMS2):c.1906G>A (p.Ala636Thr) rs876658863
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg) rs760629688
NM_000535.7(PMS2):c.1980C>T (p.Ala660=) rs368928783
NM_000535.7(PMS2):c.2006+6G>A rs111905775
NM_000535.7(PMS2):c.2007-7C>T rs55954143
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.7(PMS2):c.2049C>T (p.Asn683=) rs752950007
NM_000535.7(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161
NM_000535.7(PMS2):c.2127C>T (p.Phe709=) rs199943748
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915
NM_000535.7(PMS2):c.2160G>A (p.Gly720=) rs546441038
NM_000535.7(PMS2):c.2184_2185TC[1] (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr) rs386833410
NM_000535.7(PMS2):c.2276-10A>G rs573900018
NM_000535.7(PMS2):c.23+10G>C rs192027828
NM_000535.7(PMS2):c.23+7G>C rs878854047
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp) rs149202766
NM_000535.7(PMS2):c.24-3T>C rs749485884
NM_000535.7(PMS2):c.24-4C>G rs2345056
NM_000535.7(PMS2):c.240C>T (p.Phe80=) rs143162541
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000
NM_000535.7(PMS2):c.251-20T>G rs149343081
NM_000535.7(PMS2):c.251-2A>C rs587779340
NM_000535.7(PMS2):c.251-2A>T rs587779340
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp) rs188006077
NM_000535.7(PMS2):c.321G>C (p.Arg107=) rs756420858
NM_000535.7(PMS2):c.353+3G>A rs766373982
NM_000535.7(PMS2):c.353+6A>G rs376449640
NM_000535.7(PMS2):c.353+9A>C rs139990791
NM_000535.7(PMS2):c.354-3C>T rs587782632
NM_000535.7(PMS2):c.354-5C>G rs200591010
NM_000535.7(PMS2):c.354C>T (p.Ser118=) rs760615315
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884
NM_000535.7(PMS2):c.477G>A (p.Val159=) rs147701251
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.538-2A>G rs758304323
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386
NM_000535.7(PMS2):c.591C>T (p.Gly197=) rs748518694
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys) rs372297364
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000535.7(PMS2):c.652G>A (p.Gly218Ser) rs878854055
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser) rs376258383
NM_000535.7(PMS2):c.687T>C (p.Ser229=) rs786201508
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu) rs201811667
NM_000535.7(PMS2):c.705+17A>G rs62456182
NM_000535.7(PMS2):c.706-20dup rs60794673
NM_000535.7(PMS2):c.706-3C>T rs1229860023
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.733C>A (p.Leu245Met) rs201375580
NM_000535.7(PMS2):c.752_753TG[2] (p.Cys252_Glu253delinsTer) rs1064794905
NM_000535.7(PMS2):c.765C>T (p.Tyr255=) rs573125799
NM_000535.7(PMS2):c.780C>G (p.Ser260=) rs1805319
NM_000535.7(PMS2):c.795T>C (p.Asn265=) rs766667186
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000535.7(PMS2):c.831G>A (p.Thr277=) rs116481522
NM_000535.7(PMS2):c.852A>G (p.Ser284=) rs766177007
NM_000535.7(PMS2):c.858C>A (p.Asp286Glu) rs201921616
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg) rs56203955
NM_000535.7(PMS2):c.903+4T>A rs753803330
NM_000535.7(PMS2):c.903+4T>C rs753803330
NM_000535.7(PMS2):c.904-2A>G rs587781339
NM_000535.7(PMS2):c.935T>C (p.Met312Thr) rs530021751
NM_000535.7(PMS2):c.936G>A (p.Met312Ile) rs139194813
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201
NM_000535.7(PMS2):c.961G>A (p.Val321Ile) rs377043696
NM_000535.7(PMS2):c.988+4A>G rs763959308
Single allele

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