ClinVar Miner

List of variants in gene PMS2 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 208
Download table as spreadsheet
HGVS dbSNP
NM_000535.7(PMS2):c.1008T>G (p.Val336=) rs1057521429
NM_000535.7(PMS2):c.1011T>C (p.Thr337=) rs1353232685
NM_000535.7(PMS2):c.1026A>G (p.Gln342=) rs561993366
NM_000535.7(PMS2):c.1032G>A (p.Leu344=) rs1554298791
NM_000535.7(PMS2):c.1041G>A (p.Glu347=) rs150515238
NM_000535.7(PMS2):c.1051T>C (p.Leu351=) rs1554298759
NM_000535.7(PMS2):c.1059A>G (p.Ala353=) rs876660930
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met) rs567102013
NM_000535.7(PMS2):c.1095T>C (p.Ser365=) rs763278132
NM_000535.7(PMS2):c.1096G>C (p.Asp366His) rs141769057
NM_000535.7(PMS2):c.1104C>T (p.Asn368=) rs1554298686
NM_000535.7(PMS2):c.1116C>T (p.Val372=) rs876659729
NM_000535.7(PMS2):c.1125G>A (p.Gln375=) rs1060504838
NM_000535.7(PMS2):c.1128A>C (p.Pro376=) rs367774545
NM_000535.7(PMS2):c.1134G>T (p.Leu378=) rs754576828
NM_000535.7(PMS2):c.1145-10G>A rs533551639
NM_000535.7(PMS2):c.1145-7T>G rs1554298099
NM_000535.7(PMS2):c.114G>A (p.Ala38=) rs558032755
NM_000535.7(PMS2):c.1167A>G (p.Ala389=) rs748920792
NM_000535.7(PMS2):c.1170G>A (p.Ala390=) rs755578413
NM_000535.7(PMS2):c.1191A>G (p.Val397=) rs864622595
NM_000535.7(PMS2):c.1197G>A (p.Lys399=) rs757730609
NM_000535.7(PMS2):c.1203T>C (p.Asp401=) rs1057522327
NM_000535.7(PMS2):c.1209C>G (p.Ser403=) rs147399413
NM_000535.7(PMS2):c.1209C>T (p.Ser403=) rs147399413
NM_000535.7(PMS2):c.120G>A (p.Lys40=) rs1060504843
NM_000535.7(PMS2):c.1248C>A (p.Ser416=) rs780709321
NM_000535.7(PMS2):c.1260G>A (p.Leu420=) rs1554297974
NM_000535.7(PMS2):c.1278T>G (p.Leu426=) rs1554297963
NM_000535.7(PMS2):c.12T>G (p.Ala4=) rs776136427
NM_000535.7(PMS2):c.1305C>T (p.His435=) rs763954903
NM_000535.7(PMS2):c.1320A>G (p.Pro440=) rs138697590
NM_000535.7(PMS2):c.1326A>G (p.Pro442=) rs878854034
NM_000535.7(PMS2):c.1338T>C (p.Pro446=) rs786203033
NM_000535.7(PMS2):c.1368T>C (p.Ser456=) rs587780723
NM_000535.7(PMS2):c.1371C>T (p.Ser457=) rs1060504840
NM_000535.7(PMS2):c.1386C>T (p.Ile462=) rs750448069
NM_000535.7(PMS2):c.1398C>G (p.Gly466=) rs752666485
NM_000535.7(PMS2):c.1398C>T (p.Gly466=) rs752666485
NM_000535.7(PMS2):c.1402C>T (p.Leu468=) rs759306219
NM_000535.7(PMS2):c.1422A>C (p.Ala474=) rs1057522125
NM_000535.7(PMS2):c.1437C>T (p.His479=) rs63750685
NM_000535.7(PMS2):c.1458C>T (p.Asp486=) rs1554297734
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853
NM_000535.7(PMS2):c.1476G>A (p.Lys492=) rs766309532
NM_000535.7(PMS2):c.1482G>A (p.Ser494=) rs864622398
NM_000535.7(PMS2):c.1494C>T (p.Ser498=) rs770181766
NM_000535.7(PMS2):c.1500C>T (p.Ser500=) rs116094787
NM_000535.7(PMS2):c.1533G>A (p.Thr511=) rs542520309
NM_000535.7(PMS2):c.1533G>C (p.Thr511=) rs542520309
NM_000535.7(PMS2):c.1539T>C (p.Ser513=) rs786202950
NM_000535.7(PMS2):c.1542C>T (p.His514=) rs763694602
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649
NM_000535.7(PMS2):c.1560G>A (p.Ala520=) rs201167814
NM_000535.7(PMS2):c.1569C>T (p.Ser523=) rs141458772
NM_000535.7(PMS2):c.1572A>G (p.Pro524=) rs1488622375
NM_000535.7(PMS2):c.1578C>T (p.Asp526=) rs63750236
NM_000535.7(PMS2):c.1584C>T (p.Gly528=) rs1554297515
NM_000535.7(PMS2):c.1587G>A (p.Ser529=) rs786201709
NM_000535.7(PMS2):c.1587G>T (p.Ser529=) rs786201709
NM_000535.7(PMS2):c.1617G>A (p.Ala539=) rs776931237
NM_000535.7(PMS2):c.1629C>T (p.Asp543=) rs111673299
NM_000535.7(PMS2):c.1632C>T (p.Asp544=) rs786203439
NM_000535.7(PMS2):c.164-4C>A rs876658444
NM_000535.7(PMS2):c.164-6T>C rs1060504837
NM_000535.7(PMS2):c.1656T>C (p.His552=) rs113726095
NM_000535.7(PMS2):c.1668A>G (p.Glu556=) rs876659780
NM_000535.7(PMS2):c.166C>G (p.Leu56Val) rs371011390
NM_000535.7(PMS2):c.1674C>T (p.Thr558=) rs876658134
NM_000535.7(PMS2):c.1680T>C (p.Cys560=) rs752143026
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln) rs63750668
NM_000535.7(PMS2):c.1688_1689delinsAG (p.Arg563Gln) rs587780725
NM_000535.7(PMS2):c.1689A>G (p.Arg563=) rs551226281
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp) rs115670442
NM_000535.7(PMS2):c.1713C>T (p.Leu571=) rs745774944
NM_000535.7(PMS2):c.171G>A (p.Lys57=) rs760031402
NM_000535.7(PMS2):c.1790C>G (p.Thr597Ser) rs878854038
NM_000535.7(PMS2):c.1803A>G (p.Ser601=) rs864622203
NM_000535.7(PMS2):c.1806C>G (p.Ala602=) rs376046767
NM_000535.7(PMS2):c.1851C>T (p.Pro617=) rs1554297171
NM_000535.7(PMS2):c.1854G>C (p.Leu618=) rs876660784
NM_000535.7(PMS2):c.1864A>G (p.Met622Val) rs370853512
NM_000535.7(PMS2):c.189G>A (p.Val63=) rs786203074
NM_000535.7(PMS2):c.1902T>C (p.His634=) rs376335675
NM_000535.7(PMS2):c.1926A>G (p.Glu642=) rs765262682
NM_000535.7(PMS2):c.1936A>C (p.Arg646=) rs369582237
NM_000535.7(PMS2):c.1944T>C (p.Phe648=) rs144011908
NM_000535.7(PMS2):c.1980C>T (p.Ala660=) rs368928783
NM_000535.7(PMS2):c.1995A>G (p.Arg665=) rs781780543
NM_000535.7(PMS2):c.2007-10C>T rs878854042
NM_000535.7(PMS2):c.2007-6C>G rs376018314
NM_000535.7(PMS2):c.2013G>A (p.Thr671=) rs771513870
NM_000535.7(PMS2):c.2085C>T (p.Ile695=) rs757157176
NM_000535.7(PMS2):c.2103T>C (p.His701=) rs1554295826
NM_000535.7(PMS2):c.2106C>T (p.Ala702=) rs786202273
NM_000535.7(PMS2):c.2112C>T (p.Asp704=) rs764735061
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.2154C>T (p.Leu718=) rs749554813
NM_000535.7(PMS2):c.2160G>A (p.Gly720=) rs546441038
NM_000535.7(PMS2):c.2166G>A (p.Arg722=) rs863224367
NM_000535.7(PMS2):c.2199T>C (p.Ala733=) rs876658952
NM_000535.7(PMS2):c.21G>C (p.Ser7=) rs587780726
NM_000535.7(PMS2):c.2202T>C (p.Val734=) rs878854044
NM_000535.7(PMS2):c.2217G>A (p.Leu739=) rs752718686
NM_000535.7(PMS2):c.2265C>T (p.Ile755=) rs145646046
NM_000535.7(PMS2):c.2275+8A>G rs878854046
NM_000535.7(PMS2):c.2276-10A>G rs573900018
NM_000535.7(PMS2):c.23+7G>A rs878854047
NM_000535.7(PMS2):c.23+7G>C rs878854047
NM_000535.7(PMS2):c.23+9G>A rs1046717239
NM_000535.7(PMS2):c.2343G>A (p.Gln781=) rs786202531
NM_000535.7(PMS2):c.2358G>C (p.Leu786=) rs535056715
NM_000535.7(PMS2):c.2373C>T (p.Ser791=) rs864622765
NM_000535.7(PMS2):c.2385G>T (p.Gly795=) rs372868520
NM_000535.7(PMS2):c.2388C>T (p.Val796=) rs876660875
NM_000535.7(PMS2):c.240C>T (p.Phe80=) rs143162541
NM_000535.7(PMS2):c.2415G>A (p.Gln805=) rs780866508
NM_000535.7(PMS2):c.243A>G (p.Glu81=) rs1057521802
NM_000535.7(PMS2):c.2445+9del rs1064793472
NM_000535.7(PMS2):c.2446-5C>T rs864622279
NM_000535.7(PMS2):c.2469C>T (p.Asn823=) rs878854048
NM_000535.7(PMS2):c.2538A>G (p.Gly846=) rs863224368
NM_000535.7(PMS2):c.2559C>T (p.Ile853=) rs371673459
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279
NM_000535.7(PMS2):c.2562C>T (p.Ala854=) rs1060504841
NM_000535.7(PMS2):c.2565C>T (p.Asn855=) rs864622494
NM_000535.7(PMS2):c.267A>G (p.Thr89=) rs876659181
NM_000535.7(PMS2):c.279A>G (p.Gln93=) rs1554304728
NM_000535.7(PMS2):c.27A>C (p.Thr9=) rs1060504842
NM_000535.7(PMS2):c.321G>A (p.Arg107=) rs756420858
NM_000535.7(PMS2):c.321G>T (p.Arg107=) rs756420858
NM_000535.7(PMS2):c.327A>G (p.Glu109=) rs1554304637
NM_000535.7(PMS2):c.339A>T (p.Ser113=) rs951573893
NM_000535.7(PMS2):c.33T>C (p.Pro11=) rs780178572
NM_000535.7(PMS2):c.348A>C (p.Ala116=) rs763057312
NM_000535.7(PMS2):c.348A>G (p.Ala116=) rs763057312
NM_000535.7(PMS2):c.353+10T>C rs1554304568
NM_000535.7(PMS2):c.353+7C>A rs1057520512
NM_000535.7(PMS2):c.353+7C>G rs1057520512
NM_000535.7(PMS2):c.354-5C>G rs200591010
NM_000535.7(PMS2):c.360C>T (p.Val120=) rs767313783
NM_000535.7(PMS2):c.372C>T (p.Thr124=) rs1060504836
NM_000535.7(PMS2):c.378C>T (p.His126=) rs768488890
NM_000535.7(PMS2):c.381A>G (p.Ala127=) rs1060504835
NM_000535.7(PMS2):c.387G>A (p.Ala129=) rs876658275
NM_000535.7(PMS2):c.396A>C (p.Gly132=) rs786201073
NM_000535.7(PMS2):c.396A>G (p.Gly132=) rs786201073
NM_000535.7(PMS2):c.465C>A (p.Thr155=) rs863224369
NM_000535.7(PMS2):c.474C>T (p.Ser158=) rs767414243
NM_000535.7(PMS2):c.477G>A (p.Val159=) rs147701251
NM_000535.7(PMS2):c.495A>G (p.Thr165=) rs1057520513
NM_000535.7(PMS2):c.496C>T (p.Leu166=) rs876659249
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687
NM_000535.7(PMS2):c.501T>C (p.Pro167=) rs1554303891
NM_000535.7(PMS2):c.504G>A (p.Val168=) rs878854053
NM_000535.7(PMS2):c.537+9A>G rs759013264
NM_000535.7(PMS2):c.538-5_538-4del rs1060504839
NM_000535.7(PMS2):c.538-8T>C rs922948916
NM_000535.7(PMS2):c.54T>C (p.Ile18=) rs878854054
NM_000535.7(PMS2):c.555C>T (p.Val185=) rs759078497
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386
NM_000535.7(PMS2):c.576T>C (p.Cys192=) rs1554302497
NM_000535.7(PMS2):c.618T>C (p.Leu206=) rs1554302439
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000535.7(PMS2):c.630A>G (p.Lys210=) rs765847615
NM_000535.7(PMS2):c.639T>C (p.Pro213=) rs1210294498
NM_000535.7(PMS2):c.663C>T (p.Pro221=) rs878854057
NM_000535.7(PMS2):c.681C>T (p.Ile227=) rs188813057
NM_000535.7(PMS2):c.684C>T (p.Gly228=) rs371876208
NM_000535.7(PMS2):c.687T>C (p.Ser229=) rs786201508
NM_000535.7(PMS2):c.690G>T (p.Val230=) rs749871098
NM_000535.7(PMS2):c.705+10G>A rs770203880
NM_000535.7(PMS2):c.706-10T>C rs1554301593
NM_000535.7(PMS2):c.706-4T>C rs769605987
NM_000535.7(PMS2):c.706-5T>C rs1203452929
NM_000535.7(PMS2):c.706-7T>G rs1459714978
NM_000535.7(PMS2):c.706-7_706-6insG rs570998668
NM_000535.7(PMS2):c.723T>A (p.Pro241=) rs1554301521
NM_000535.7(PMS2):c.735G>T (p.Leu245=) rs373366661
NM_000535.7(PMS2):c.738C>G (p.Pro246=) rs202094399
NM_000535.7(PMS2):c.738C>T (p.Pro246=) rs202094399
NM_000535.7(PMS2):c.750C>T (p.Ser250=) rs200439295
NM_000535.7(PMS2):c.753G>A (p.Val251=) rs762836049
NM_000535.7(PMS2):c.753G>T (p.Val251=) rs762836049
NM_000535.7(PMS2):c.765C>T (p.Tyr255=) rs573125799
NM_000535.7(PMS2):c.780C>A (p.Ser260=) rs1805319
NM_000535.7(PMS2):c.780C>T (p.Ser260=) rs1805319
NM_000535.7(PMS2):c.789G>A (p.Leu263=) rs755394319
NM_000535.7(PMS2):c.823C>G (p.Gln275Glu) rs587780062
NM_000535.7(PMS2):c.831G>A (p.Thr277=) rs116481522
NM_000535.7(PMS2):c.879C>T (p.Asn293=) rs1208421007
NM_000535.7(PMS2):c.87G>A (p.Gly29=) rs876659642
NM_000535.7(PMS2):c.885G>A (p.Arg295=) rs786201615
NM_000535.7(PMS2):c.885G>T (p.Arg295=) rs786201615
NM_000535.7(PMS2):c.903+4T>A rs753803330
NM_000535.7(PMS2):c.903+4T>C rs753803330
NM_000535.7(PMS2):c.903+8A>T rs1554300686
NM_000535.7(PMS2):c.909C>T (p.Cys303=) rs1199497563
NM_000535.7(PMS2):c.915C>T (p.Leu305=) rs767392742
NM_000535.7(PMS2):c.930C>T (p.Tyr310=) rs1405625567
NM_000535.7(PMS2):c.935T>C (p.Met312Thr) rs530021751
NM_000535.7(PMS2):c.96A>G (p.Val32=) rs746089731
NM_000535.7(PMS2):c.97C>T (p.Leu33=) rs878854061
NM_000535.7(PMS2):c.988+10A>G rs372554253
NM_000535.7(PMS2):c.989-13dup rs1333503820
NM_000535.7(PMS2):c.989-5C>T rs1401221727
NM_000535.7(PMS2):c.993C>T (p.Cys331=) rs186577215

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.