ClinVar Miner

List of variants in gene PMS2 reported as uncertain significance by Integrated Genetics/Laboratory Corporation of America

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Gene type:
ClinVar version:
Total variants: 162
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HGVS dbSNP
NM_000535.6(PMS2):c.2175-?_2445+?del
NM_000535.6(PMS2):c.904-?_988+?dup
NM_000535.7(PMS2):c.*3G>A rs776493195
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014
NM_000535.7(PMS2):c.101G>T (p.Ser34Ile) rs370612538
NM_000535.7(PMS2):c.1096G>C (p.Asp366His) rs141769057
NM_000535.7(PMS2):c.1113T>C (p.Asn371=) rs989130272
NM_000535.7(PMS2):c.1121_1123AGC[1] (p.Gln375del)
NM_000535.7(PMS2):c.1145-17delinsGGAG rs1562637330
NM_000535.7(PMS2):c.114G>A (p.Ala38=) rs558032755
NM_000535.7(PMS2):c.1170G>A (p.Ala390=) rs755578413
NM_000535.7(PMS2):c.1177G>A (p.Glu393Lys) rs1243063129
NM_000535.7(PMS2):c.1197G>A (p.Lys399=) rs757730609
NM_000535.7(PMS2):c.1224T>C (p.Thr408=) rs1554298007
NM_000535.7(PMS2):c.1240G>T (p.Asp414Tyr) rs370752614
NM_000535.7(PMS2):c.1243G>A (p.Val415Met) rs138387687
NM_000535.7(PMS2):c.1243G>T (p.Val415Leu) rs138387687
NM_000535.7(PMS2):c.1264G>A (p.Glu422Lys) rs587782175
NM_000535.7(PMS2):c.1270T>C (p.Phe424Leu) rs1562635229
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.1360_1361delinsTC (p.Leu454Ser) rs587778615
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462
NM_000535.7(PMS2):c.1389T>C (p.Ser463=) rs1554297811
NM_000535.7(PMS2):c.142G>A (p.Asp48Asn) rs755665894
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.1465G>A (p.Glu489Lys) rs876660060
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859
NM_000535.7(PMS2):c.149G>A (p.Gly50Asp) rs539285592
NM_000535.7(PMS2):c.1501G>A (p.Val501Met) rs540287433
NM_000535.7(PMS2):c.1507T>G (p.Ser503Ala) rs864622497
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln) rs368516768
NM_000535.7(PMS2):c.1515G>A (p.Gly505=) rs753856135
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.1559C>T (p.Ala520Val) rs63751300
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132
NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly) rs143235330
NM_000535.7(PMS2):c.1587G>A (p.Ser529=) rs786201709
NM_000535.7(PMS2):c.1631A>T (p.Asp544Val) rs1562629531
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.1703C>A (p.Pro568Gln) rs869312801
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp) rs115670442
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.1732C>A (p.Arg578Ser) rs63750534
NM_000535.7(PMS2):c.1760G>T (p.Ser587Ile) rs762100304
NM_000535.7(PMS2):c.1806C>G (p.Ala602=) rs376046767
NM_000535.7(PMS2):c.1841A>G (p.Lys614Arg) rs771892867
NM_000535.7(PMS2):c.1864A>G (p.Met622Val) rs370853512
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.1999G>A (p.Glu667Lys) rs587780045
NM_000535.7(PMS2):c.2003T>G (p.Ile668Arg) rs1562624877
NM_000535.7(PMS2):c.2006+67del rs1159879425
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.7(PMS2):c.2013G>A (p.Thr671=) rs771513870
NM_000535.7(PMS2):c.2017T>C (p.Phe673Leu) rs1562616167
NM_000535.7(PMS2):c.2036T>C (p.Ile679Thr) rs778251286
NM_000535.7(PMS2):c.2049C>T (p.Asn683=) rs752950007
NM_000535.7(PMS2):c.2085C>T (p.Ile695=) rs757157176
NM_000535.7(PMS2):c.2092G>A (p.Val698Met) rs751551006
NM_000535.7(PMS2):c.20C>T (p.Ser7Leu) rs587780048
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met) rs370196722
NM_000535.7(PMS2):c.2109G>A (p.Thr703=) rs775355718
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.2160G>C (p.Gly720=) rs546441038
NM_000535.7(PMS2):c.2166G>A (p.Arg722=) rs863224367
NM_000535.7(PMS2):c.2174+6T>C rs587780050
NM_000535.7(PMS2):c.2174C>T (p.Ala725Val) rs150630090
NM_000535.7(PMS2):c.2175-65_2175-61del rs1417472000
NM_000535.7(PMS2):c.2175A>G (p.Ala725=) rs769116749
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala) rs141893001
NM_000535.7(PMS2):c.2185C>G (p.Leu729Val) rs1554294503
NM_000535.7(PMS2):c.21G>C (p.Ser7=) rs587780726
NM_000535.7(PMS2):c.2217G>C (p.Leu739=) rs752718686
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr) rs587782671
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr) rs386833410
NM_000535.7(PMS2):c.2276-10A>G rs573900018
NM_000535.7(PMS2):c.2276-4T>C rs1562602173
NM_000535.7(PMS2):c.2287G>A (p.Glu763Lys) rs587780051
NM_000535.7(PMS2):c.23+7G>C rs878854047
NM_000535.7(PMS2):c.2317A>G (p.Ser773Gly) rs587781489
NM_000535.7(PMS2):c.2346C>T (p.Asp782=) rs139031103
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522
NM_000535.7(PMS2):c.2385G>A (p.Gly795=) rs372868520
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp) rs149202766
NM_000535.7(PMS2):c.240C>T (p.Phe80=) rs143162541
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys) rs730881919
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp) rs375968016
NM_000535.7(PMS2):c.243A>G (p.Glu81=) rs1057521802
NM_000535.7(PMS2):c.2445+9A>G rs1562600132
NM_000535.7(PMS2):c.2446-19C>T rs1390101876
NM_000535.7(PMS2):c.2446-5C>G rs864622279
NM_000535.7(PMS2):c.244G>A (p.Gly82Ser) rs754191682
NM_000535.7(PMS2):c.251-10T>A rs1554304817
NM_000535.7(PMS2):c.251-9C>G rs1064793639
NM_000535.7(PMS2):c.251C>G (p.Thr84Ser) rs864622274
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter) rs587780057
NM_000535.7(PMS2):c.2538A>G (p.Gly846=) rs863224368
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met) rs371673459
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.283T>C (p.Phe95Leu) rs1554304717
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp) rs188006077
NM_000535.7(PMS2):c.321G>A (p.Arg107=) rs756420858
NM_000535.7(PMS2):c.32C>T (p.Pro11Leu) rs1291217267
NM_000535.7(PMS2):c.348A>C (p.Ala116=) rs763057312
NM_000535.7(PMS2):c.353+3G>A rs766373982
NM_000535.7(PMS2):c.353+6A>G rs376449640
NM_000535.7(PMS2):c.354-7C>T rs758471869
NM_000535.7(PMS2):c.354C>T (p.Ser118=) rs760615315
NM_000535.7(PMS2):c.355G>A (p.Asp119Asn) rs587781913
NM_000535.7(PMS2):c.406A>T (p.Met136Leu) rs35690297
NM_000535.7(PMS2):c.433C>A (p.Gln145Lys) rs786204133
NM_000535.7(PMS2):c.468A>T (p.Thr156=) rs1364918195
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.7(PMS2):c.58C>T (p.Arg20Trp) rs573374779
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln) rs587781934
NM_000535.7(PMS2):c.647G>T (p.Cys216Phe) rs730881908
NM_000535.7(PMS2):c.681C>T (p.Ile227=) rs188813057
NM_000535.7(PMS2):c.683G>T (p.Gly228Val) rs1554302319
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.71A>C (p.His24Pro) rs139233015
NM_000535.7(PMS2):c.738C>G (p.Pro246=) rs202094399
NM_000535.7(PMS2):c.750C>T (p.Ser250=) rs200439295
NM_000535.7(PMS2):c.751G>A (p.Val251Met) rs142434011
NM_000535.7(PMS2):c.755G>A (p.Cys252Tyr) rs775445157
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser) rs587782633
NM_000535.7(PMS2):c.792T>A (p.His264Gln) rs1554301398
NM_000535.7(PMS2):c.7C>A (p.Arg3=) rs763939668
NM_000535.7(PMS2):c.803+7A>G rs1562669544
NM_000535.7(PMS2):c.804-10T>G rs267608151
NM_000535.7(PMS2):c.830C>T (p.Thr277Met) rs1805322
NM_000535.7(PMS2):c.833A>G (p.His278Arg) rs1562664434
NM_000535.7(PMS2):c.855A>G (p.Thr285=) rs1554300771
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608
NM_000535.7(PMS2):c.858C>A (p.Asp286Glu) rs201921616
NM_000535.7(PMS2):c.865T>C (p.Phe289Leu) rs771787834
NM_000535.7(PMS2):c.869T>C (p.Phe290Ser) rs1031512870
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004
NM_000535.7(PMS2):c.917T>C (p.Val306Ala) rs786201878
NM_000535.7(PMS2):c.922G>A (p.Glu308Lys) rs587781358
NM_000535.7(PMS2):c.929A>T (p.Tyr310Phe) rs372172981
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.944G>A (p.Arg315Gln) rs116314131
NM_000535.7(PMS2):c.962T>C (p.Val321Ala) rs186448384
NM_000535.7(PMS2):c.964G>A (p.Val322Ile) rs587782208
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly) rs587782852
NM_000535.7(PMS2):c.994G>A (p.Val332Ile) rs1236095389

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