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 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
1068 633 36 109 164 0 15 262

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 32 6 0 0
likely pathogenic 32 0 13 0 0
uncertain significance 6 13 11 160 35
likely benign 0 0 160 0 77
benign 0 0 35 77 25

All variants with conflicting interpretations #

Total variants: 262
Download table as spreadsheet
HGVS dbSNP
NM_000535.5(PMS2):c.*17G>C rs556089649
NM_000535.5(PMS2):c.1080A>G (p.Ile360Met) rs567102013
NM_000535.5(PMS2):c.1144+1G>A rs373885654
NM_000535.5(PMS2):c.1170G>A (p.Ala390=) rs755578413
NM_000535.5(PMS2):c.1261C>T (p.Arg421Ter) rs587778617
NM_000535.5(PMS2):c.1288A>G (p.Thr430Ala) rs587781382
NM_000535.5(PMS2):c.1398C>T (p.Gly466=) rs752666485
NM_000535.5(PMS2):c.139_146delCTGGATGC (p.Leu47Trpfs) rs886039615
NM_000535.5(PMS2):c.1454C>T (p.Thr485Met) rs1805323
NM_000535.5(PMS2):c.1587G>A (p.Ser529=) rs786201709
NM_000535.5(PMS2):c.1778delA (p.Lys593Serfs) rs766389591
NM_000535.5(PMS2):c.2007-6C>G rs376018314
NM_000535.5(PMS2):c.2013G>A (p.Thr671=) rs771513870
NM_000535.5(PMS2):c.2085C>T (p.Ile695=) rs757157176
NM_000535.5(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000535.5(PMS2):c.2109G>A (p.Thr703=) rs775355718
NM_000535.5(PMS2):c.2182A>G (p.Thr728Ala) rs141893001
NM_000535.5(PMS2):c.2186_2187delTC (p.Leu729Glnfs) rs587779335
NM_000535.5(PMS2):c.2192_2196delTAACT (p.Leu731Cysfs) rs63750695
NM_000535.5(PMS2):c.21G>C (p.Ser7=) rs587780726
NM_000535.5(PMS2):c.2249G>A (p.Gly750Asp) rs587779337
NM_000535.5(PMS2):c.2264T>C (p.Ile755Thr) rs386833410
NM_000535.5(PMS2):c.2275+1G>A rs1554294393
NM_000535.5(PMS2):c.23+1G>T rs587782074
NM_000535.5(PMS2):c.2444C>T (p.Ser815Leu) rs587779338
NM_000535.5(PMS2):c.250+8G>A rs1057520511
NM_000535.5(PMS2):c.2506G>T (p.Glu836Ter) rs786201039
NM_000535.5(PMS2):c.2521delT (p.Trp841Glyfs) rs886039646
NM_000535.5(PMS2):c.2T>C (p.Met1Thr) rs587780059
NM_000535.5(PMS2):c.30A>G (p.Glu10=) rs876660608
NM_000535.5(PMS2):c.353+3G>A rs766373982
NM_000535.5(PMS2):c.384G>A (p.Ser128=) rs371342884
NM_000535.5(PMS2):c.695G>A (p.Gly232Glu) rs201811667
NM_000535.5(PMS2):c.733C>A (p.Leu245Met) rs201375580
NM_000535.5(PMS2):c.756_757delTG (p.Cys252Terfs) rs1064794905
NM_000535.5(PMS2):c.804-1G>A
NM_000535.5(PMS2):c.851delC (p.Ser284Terfs) rs876658964
NM_000535.6(PMS2):c.-18G>C rs200624125
NM_000535.6(PMS2):c.-7T>C rs199660792
NM_000535.6(PMS2):c.1004A>G (p.Asn335Ser) rs200513014
NM_000535.6(PMS2):c.1096G>C (p.Asp366His) rs141769057
NM_000535.6(PMS2):c.1113T>C (p.Asn371=) rs989130272
NM_000535.6(PMS2):c.1144+2T>A rs267608158
NM_000535.6(PMS2):c.1145-10G>A rs533551639
NM_000535.6(PMS2):c.1145-16G>T rs576825560
NM_000535.6(PMS2):c.1145-17C>T rs587781110
NM_000535.6(PMS2):c.1145-8T>G rs1554298100
NM_000535.6(PMS2):c.1197G>A (p.Lys399=) rs757730609
NM_000535.6(PMS2):c.1199A>C (p.Gln400Pro) rs148069478
NM_000535.6(PMS2):c.1209C>T (p.Ser403=) rs147399413
NM_000535.6(PMS2):c.1224T>C (p.Thr408=) rs1554298007
NM_000535.6(PMS2):c.1237_1239del (p.Lys413del) rs267608159
NM_000535.6(PMS2):c.123_131delGTTAGTAGA (p.Leu42_Glu44del) rs863224676
NM_000535.6(PMS2):c.1242C>T (p.Asp414=) rs142839559
NM_000535.6(PMS2):c.1243G>A (p.Val415Met) rs138387687
NM_000535.6(PMS2):c.1266G>A (p.Glu422=) rs138049175
NM_000535.6(PMS2):c.1309C>T (p.Pro437Ser) rs200726484
NM_000535.6(PMS2):c.1320A>G (p.Pro440=) rs138697590
NM_000535.6(PMS2):c.1357A>G (p.Met453Val) rs587780722
NM_000535.6(PMS2):c.1361T>C (p.Leu454Pro) rs772659239
NM_000535.6(PMS2):c.1364C>T (p.Ser455Phe) rs748698776
NM_000535.6(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.6(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.6(PMS2):c.1399G>A (p.Val467Ile) rs373611083
NM_000535.6(PMS2):c.1408C>T (p.Pro470Ser) rs1805321
NM_000535.6(PMS2):c.1435C>G (p.His479Asp) rs376344586
NM_000535.6(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.6(PMS2):c.1454C>A (p.Thr485Lys) rs1805323
NM_000535.6(PMS2):c.1455G>A (p.Thr485=) rs752665758
NM_000535.6(PMS2):c.1463C>T (p.Ala488Val) rs587779328
NM_000535.6(PMS2):c.1488C>T (p.His496=) rs1805320
NM_000535.6(PMS2):c.1490G>A (p.Gly497Asp) rs199739859
NM_000535.6(PMS2):c.1501G>A (p.Val501Met) rs540287433
NM_000535.6(PMS2):c.1531A>G (p.Thr511Ala) rs2228007
NM_000535.6(PMS2):c.1532C>T (p.Thr511Met) rs74902811
NM_000535.6(PMS2):c.1533G>A (p.Thr511=) rs542520309
NM_000535.6(PMS2):c.1557T>C (p.Tyr519=) rs6972869
NM_000535.6(PMS2):c.1560G>A (p.Ala520=) rs201167814
NM_000535.6(PMS2):c.1567T>A (p.Ser523Thr) rs63751132
NM_000535.6(PMS2):c.1569C>G (p.Ser523=) rs141458772
NM_000535.6(PMS2):c.1609G>A (p.Glu537Lys) rs115052399
NM_000535.6(PMS2):c.1616C>T (p.Ala539Val) rs138222146
NM_000535.6(PMS2):c.1621A= (p.Lys541=) rs2228006
NM_000535.6(PMS2):c.1629C>T (p.Asp543=) rs111673299
NM_000535.6(PMS2):c.1668A>G (p.Glu556=) rs876659780
NM_000535.6(PMS2):c.166C>G (p.Leu56Val) rs371011390
NM_000535.6(PMS2):c.1674C>T (p.Thr558=) rs876658134
NM_000535.6(PMS2):c.1679G>A (p.Cys560Tyr) rs757989905
NM_000535.6(PMS2):c.1687C>A (p.Arg563=) rs587778618
NM_000535.6(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.6(PMS2):c.1708A>G (p.Asn570Asp) rs115670442
NM_000535.6(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000535.6(PMS2):c.1717A>T (p.Thr573Ser) rs63751211
NM_000535.6(PMS2):c.1720C>T (p.Pro574Ser) rs758018736
NM_000535.6(PMS2):c.1731_1732delGCinsAGT (p.Arg578Valfs) rs1057515572
NM_000535.6(PMS2):c.1753C>A (p.Leu585Ile) rs63750947
NM_000535.6(PMS2):c.1760G>A (p.Ser587Asn) rs762100304
NM_000535.6(PMS2):c.1771T>C (p.Cys591Arg)
NM_000535.6(PMS2):c.1789A>T (p.Thr597Ser) rs1805318
NM_000535.6(PMS2):c.1806C>G (p.Ala602=) rs376046767
NM_000535.6(PMS2):c.1831dup (p.Ile611Asnfs) rs63750250
NM_000535.6(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.6(PMS2):c.1936A>C (p.Arg646=) rs369582237
NM_000535.6(PMS2):c.1944T>C (p.Phe648=) rs144011908
NM_000535.6(PMS2):c.1980C>T (p.Ala660=) rs368928783
NM_000535.6(PMS2):c.1A>G (p.Met1Val) rs587779333
NM_000535.6(PMS2):c.2002A>G (p.Ile668Val) rs869320619
NM_000535.6(PMS2):c.2006+6G>A rs111905775
NM_000535.6(PMS2):c.2007-4G>A rs1805326
NM_000535.6(PMS2):c.2007-7C>T rs55954143
NM_000535.6(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.6(PMS2):c.2113G>A (p.Glu705Lys) rs267608161
NM_000535.6(PMS2):c.2127C>T (p.Phe709=) rs199943748
NM_000535.6(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.6(PMS2):c.2160G>A (p.Gly720=) rs546441038
NM_000535.6(PMS2):c.2166G>A (p.Arg722=) rs863224367
NM_000535.6(PMS2):c.2175A>T (p.Ala725=) rs769116749
NM_000535.6(PMS2):c.2187C>G (p.Leu729=) rs373630535
NM_000535.6(PMS2):c.220G>C (p.Gly74Arg) rs1554304979
NM_000535.6(PMS2):c.2253T>C (p.Phe751=) rs1805325
NM_000535.6(PMS2):c.2276-10A>G rs573900018
NM_000535.6(PMS2):c.23+10G>C rs192027828
NM_000535.6(PMS2):c.23+7G>T rs878854047
NM_000535.6(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000535.6(PMS2):c.232_234delGAA (p.Glu78del) rs386833411
NM_000535.6(PMS2):c.2340C>T (p.Pro780=) rs142230276
NM_000535.6(PMS2):c.2346C>T (p.Asp782=) rs139031103
NM_000535.6(PMS2):c.2347G>A (p.Val783Ile) rs553286217
NM_000535.6(PMS2):c.2356C>A (p.Leu786Met) rs576055272
NM_000535.6(PMS2):c.2399C>T (p.Pro800Leu) rs200629542
NM_000535.6(PMS2):c.24-4C>G rs2345056
NM_000535.6(PMS2):c.240C>T (p.Phe80=) rs143162541
NM_000535.6(PMS2):c.241G>T (p.Glu81Ter) rs730881919
NM_000535.6(PMS2):c.243A>G (p.Glu81=) rs1057521802
NM_000535.6(PMS2):c.2466T>C (p.Leu822=) rs10000
NM_000535.6(PMS2):c.2500_2501delATinsG (p.Met834Glyfs) rs587781626
NM_000535.6(PMS2):c.251-12A>C rs562762722
NM_000535.6(PMS2):c.251-20T>G rs149343081
NM_000535.6(PMS2):c.251-2A>T rs587779340
NM_000535.6(PMS2):c.2534A>T (p.His845Leu) rs1554292741
NM_000535.6(PMS2):c.2559C>T (p.Ile853=) rs371673459
NM_000535.6(PMS2):c.255G>A (p.Leu85=) rs200491279
NM_000535.6(PMS2):c.2570G>C (p.Gly857Ala) rs1802683
NM_000535.6(PMS2):c.288C>T (p.Ala96=) rs12532895
NM_000535.6(PMS2):c.319C>T (p.Arg107Trp) rs188006077
NM_000535.6(PMS2):c.321G>A (p.Arg107=) rs756420858
NM_000535.6(PMS2):c.348A>C (p.Ala116=) rs763057312
NM_000535.6(PMS2):c.353+6A>G rs376449640
NM_000535.6(PMS2):c.353+9A>C rs139990791
NM_000535.6(PMS2):c.354-7C>T rs758471869
NM_000535.6(PMS2):c.354C>T (p.Ser118=) rs760615315
NM_000535.6(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000535.6(PMS2):c.477G>A (p.Val159=) rs147701251
NM_000535.6(PMS2):c.497T>C (p.Leu166Pro) rs116349687
NM_000535.6(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.6(PMS2):c.537+17C>T rs548285941
NM_000535.6(PMS2):c.537+4C>T rs864622272
NM_000535.6(PMS2):c.537+6G>A rs1358613918
NM_000535.6(PMS2):c.538-1G>C rs988423880
NM_000535.6(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.6(PMS2):c.572A>G (p.Tyr191Cys) rs375289386
NM_000535.6(PMS2):c.591C>T (p.Gly197=) rs748518694
NM_000535.6(PMS2):c.595C>T (p.Arg199Cys) rs372297364
NM_000535.6(PMS2):c.59G>A (p.Arg20Gln) rs10254120
NM_000535.6(PMS2):c.614A>C (p.Gln205Pro) rs587779342
NM_000535.6(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000535.6(PMS2):c.681C>T (p.Ile227=) rs188813057
NM_000535.6(PMS2):c.682G>A (p.Gly228Ser) rs376258383
NM_000535.6(PMS2):c.687T>C (p.Ser229=) rs786201508
NM_000535.6(PMS2):c.705+12C>T rs368486366
NM_000535.6(PMS2):c.705+17A>G rs62456182
NM_000535.6(PMS2):c.706-3C>T rs1229860023
NM_000535.6(PMS2):c.706-4T>C rs769605987
NM_000535.6(PMS2):c.706-4delT rs60794673
NM_000535.6(PMS2):c.706-4dup rs60794673
NM_000535.6(PMS2):c.706-5_706-4delTT rs60794673
NM_000535.6(PMS2):c.709C>T (p.Gln237Ter) rs1458321358
NM_000535.6(PMS2):c.711A>G (p.Gln237=) rs368608818
NM_000535.6(PMS2):c.738C>G (p.Pro246=) rs202094399
NM_000535.6(PMS2):c.750C>T (p.Ser250=) rs200439295
NM_000535.6(PMS2):c.765C>T (p.Tyr255=) rs573125799
NM_000535.6(PMS2):c.780C>A (p.Ser260=) rs1805319
NM_000535.6(PMS2):c.780C>G (p.Ser260=) rs1805319
NM_000535.6(PMS2):c.780C>T (p.Ser260=) rs1805319
NM_000535.6(PMS2):c.7C>A (p.Arg3=) rs763939668
NM_000535.6(PMS2):c.828C>T (p.Cys276=) rs757324104
NM_000535.6(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000535.6(PMS2):c.831G>A (p.Thr277=) rs116481522
NM_000535.6(PMS2):c.86G>C (p.Gly29Ala) rs146176004
NM_000535.6(PMS2):c.953A>G (p.Tyr318Cys) rs139438201
NM_000535.6(PMS2):c.988+4A>G rs763959308
NM_000535.6(PMS2):c.989-21_989-20delAT rs745927005
NM_000535.6(PMS2):c.989-2A>G rs587779347
NM_000535.6(PMS2):c.989-5C>T rs1401221727
NM_000535.6(PMS2):c.993C>T (p.Cys331=) rs186577215
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.1076dup (p.Leu359Phefs) rs267608156
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile) rs746889239
NM_000535.7(PMS2):c.114G>A (p.Ala38=) rs558032755
NM_000535.7(PMS2):c.1169C>T (p.Ala390Val) rs587780039
NM_000535.7(PMS2):c.1225G>C (p.Gly409Arg) rs864622553
NM_000535.7(PMS2):c.1238_1239delAAinsGG (p.Lys413Arg) rs587780041
NM_000535.7(PMS2):c.1248C>A (p.Ser416=) rs780709321
NM_000535.7(PMS2):c.1280G>A (p.Arg427His) rs112902065
NM_000535.7(PMS2):c.1344A>T (p.Gly448=) rs759192470
NM_000535.7(PMS2):c.1354G>A (p.Gly452Ser) rs569947936
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462
NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg) rs141084758
NM_000535.7(PMS2):c.139C>G (p.Leu47Val) rs766203500
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.1438G>A (p.Gly480Arg) rs146848345
NM_000535.7(PMS2):c.1438G>C (p.Gly480Arg) rs146848345
NM_000535.7(PMS2):c.1444A>G (p.Ser482Gly) rs786203510
NM_000535.7(PMS2):c.1489G>A (p.Gly497Ser) rs749826312
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln) rs368516768
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.1559C>T (p.Ala520Val) rs63751300
NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly) rs143235330
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln) rs63750668
NM_000535.7(PMS2):c.1688_1689delGAinsAG (p.Arg563Gln) rs587780725
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr) rs63751023
NM_000535.7(PMS2):c.1723A>G (p.Asn575Asp) rs142506484
NM_000535.7(PMS2):c.1765G>C (p.Asp589His) rs749727182
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585
NM_000535.7(PMS2):c.1819G>A (p.Val607Ile) rs786204109
NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu) rs199700509
NM_000535.7(PMS2):c.1864A>G (p.Met622Val) rs370853512
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.1952A>G (p.Lys651Arg) rs267608167
NM_000535.7(PMS2):c.2049C>T (p.Asn683=) rs752950007
NM_000535.7(PMS2):c.2112C>T (p.Asp704=) rs764735061
NM_000535.7(PMS2):c.23+7G>C rs878854047
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522
NM_000535.7(PMS2):c.24-3T>C rs749485884
NM_000535.7(PMS2):c.251-2A>C rs587779340
NM_000535.7(PMS2):c.251-9C>G rs1064793639
NM_000535.7(PMS2):c.2538A>G (p.Gly846=) rs863224368
NM_000535.7(PMS2):c.354-2A>G rs786202098
NM_000535.7(PMS2):c.354-3C>T rs587782632
NM_000535.7(PMS2):c.354-5C>G rs200591010
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343
NM_000535.7(PMS2):c.468A>T (p.Thr156=)
NM_000535.7(PMS2):c.538-16T>G rs763941291
NM_000535.7(PMS2):c.538-2A>G rs758304323
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.779_780delCCinsTG (p.Ser260Leu) rs730881920
NM_000535.7(PMS2):c.823C>G (p.Gln275Glu) rs587780062
NM_000535.7(PMS2):c.858C>A (p.Asp286Glu) rs201921616
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg) rs56203955
NM_000535.7(PMS2):c.903+4T>A rs753803330
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
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.961G>A (p.Val321Ile) rs377043696

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