ClinVar Miner

List of variants in gene PMS2 reported by International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

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Gene type:
ClinVar version:
Total variants: 134
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HGVS dbSNP
NM_000535.5(PMS2):c.(?_-87)_(*160_?)del
NM_000535.5(PMS2):c.1145-1350_*20545del
NM_000535.5(PMS2):c.164-518_803+252delinsCG
NM_000535.5(PMS2):c.804-60_804-59insJN866832.1
NM_000535.5:c.(1144+1_1145-1)_(2174+1_2715-1)dup
NM_000535.6(PMS2):c.(?_-87)_1144+?del
NM_000535.6(PMS2):c.(?_-87)_23+?del
NM_000535.6(PMS2):c.-101A>G rs587779325
NM_000535.6(PMS2):c.-154C>G rs3735296
NM_000535.6(PMS2):c.-195T>C rs2302336
NM_000535.6(PMS2):c.-93G>A rs6976537
NM_000535.6(PMS2):c.1145-?_2174+?del
NM_000535.6(PMS2):c.1145-?_2445+?del
NM_000535.6(PMS2):c.1169_1170ins20 (p.?)
NM_000535.6(PMS2):c.24-?_163+?del
NM_000535.6(PMS2):c.354-?_*(160_?)del
NM_000535.6(PMS2):c.354-?_803+?del
NM_000535.6(PMS2):c.706-?_803+?del
NM_000535.6(PMS2):c.804-?_2006+?del
NM_000535.6(PMS2):c.804-?_903+?del
NM_000535.6(PMS2):c.904-?_*(160_?)del
NM_000535.6(PMS2):c.904-?_1144+?del
NM_000535.6(PMS2):c.904-?_988+?del
NM_000535.6(PMS2):c.989-?_*(160_?)del
NM_000535.7(PMS2):c.*17G>C rs556089649
NM_000535.7(PMS2):c.*92dup rs267608145
NM_000535.7(PMS2):c.1021del (p.Arg341fs) rs63750049
NM_000535.7(PMS2):c.1076dup (p.Leu359fs) rs267608156
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs) rs587779326
NM_000535.7(PMS2):c.1144+2T>A rs267608158
NM_000535.7(PMS2):c.1145-5C>T rs267608157
NM_000535.7(PMS2):c.1221del (p.Thr408fs) rs587776715
NM_000535.7(PMS2):c.1237_1239del (p.Lys413del) rs267608159
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617
NM_000535.7(PMS2):c.1306dup (p.Ser436fs) rs63750106
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.1384A>C (p.Ile462Leu) rs200116037
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323
NM_000535.7(PMS2):c.1463C>T (p.Ala488Val) rs587779328
NM_000535.7(PMS2):c.1488C>T (p.His496=) rs1805320
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.1569C>G (p.Ser523=) rs141458772
NM_000535.7(PMS2):c.1621= (p.Lys541=) rs2228006
NM_000535.7(PMS2):c.163+2T>C rs587779329
NM_000535.7(PMS2):c.164-2A>G rs587779324
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000535.7(PMS2):c.1730dup (p.Arg578fs) rs587779330
NM_000535.7(PMS2):c.1732C>T (p.Arg578Cys) rs63750534
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter) rs267608169
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile) rs63750947
NM_000535.7(PMS2):c.1768del (p.Ile590fs) rs63750477
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585
NM_000535.7(PMS2):c.182del (p.Tyr61fs) rs63750793
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter) rs63750490
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.7(PMS2):c.1876G>C (p.Ala626Pro) rs587779331
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter) rs63750451
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter) rs63751422
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.1988A>C (p.Glu663Ala) rs587779332
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333
NM_000535.7(PMS2):c.2006+6G>A rs111905775
NM_000535.7(PMS2):c.2007-117C>T rs587779334
NM_000535.7(PMS2):c.2007-1G>A rs267608170
NM_000535.7(PMS2):c.2007-4G>A rs1805326
NM_000535.7(PMS2):c.2007-7C>T rs55954143
NM_000535.7(PMS2):c.2093T>G (p.Val698Gly) rs1085308060
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161
NM_000535.7(PMS2):c.2174+1G>A rs267608172
NM_000535.7(PMS2):c.217_218TG[3] (p.Gly74fs) rs587779336
NM_000535.7(PMS2):c.2184_2185TC[1] (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.2239_2242AGAA[1] (p.Lys748fs) rs267608173
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325
NM_000535.7(PMS2):c.2276-113_2445+1596del
NM_000535.7(PMS2):c.2276-91_2445+790del
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.2361_2364del (p.Phe788fs) rs267608160
NM_000535.7(PMS2):c.2390T>G (p.Met797Arg) rs267608152
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp) rs149202766
NM_000535.7(PMS2):c.24-12_107delinsAAAT rs1554306445
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) rs63751466
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338
NM_000535.7(PMS2):c.2446-25_2446-23del rs587779339
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000
NM_000535.7(PMS2):c.251-2A>G rs587779340
NM_000535.7(PMS2):c.251-72A>G rs117831773
NM_000535.7(PMS2):c.251-8T>C rs267608146
NM_000535.7(PMS2):c.2528G>A (p.Cys843Tyr) rs267608174
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683
NM_000535.7(PMS2):c.288C>A (p.Ala96=) rs12532895
NM_000535.7(PMS2):c.288C>T (p.Ala96=) rs12532895
NM_000535.7(PMS2):c.320G>A (p.Arg107Gln) rs63751284
NM_000535.7(PMS2):c.325G>A (p.Glu109Lys) rs63749862
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.538-223A>G rs2345060
NM_000535.7(PMS2):c.538-478_705+456del
NM_000535.7(PMS2):c.543del (p.Glu180_Tyr181insTer) rs63751029
NM_000535.7(PMS2):c.544G>A (p.Ala182Thr) rs587779341
NM_000535.7(PMS2):c.593dup (p.Arg199fs) rs267608148
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.697C>T (p.Gln233Ter) rs587779343
NM_000535.7(PMS2):c.703C>T (p.Gln235Ter) rs63750261
NM_000535.7(PMS2):c.705+17A>G rs62456182
NM_000535.7(PMS2):c.705+1G>T rs267608147
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.780C>G (p.Ser260=) rs1805319
NM_000535.7(PMS2):c.780del (p.Asp261fs) rs587779344
NM_000535.7(PMS2):c.787C>G (p.Leu263Val) rs587779345
NM_000535.7(PMS2):c.802dup (p.Tyr268fs) rs267608149
NM_000535.7(PMS2):c.804-10T>G rs267608151
NM_000535.7(PMS2):c.804-243G>A rs2286680
NM_000535.7(PMS2):c.853_856ACAG[2] (p.Arg287fs) rs267608154
NM_000535.7(PMS2):c.862_863del (p.Gln288fs) rs63750246
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_000535.7(PMS2):c.921T>G (p.Asn307Lys) rs587779346
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) rs200640585
NM_000535.7(PMS2):c.949C>T (p.Gln317Ter) rs143277125
NM_000535.7(PMS2):c.988+78G>A rs267608155
NM_000535.7(PMS2):c.989-296_1144+706del
NM_000535.7(PMS2):c.989-2A>G rs587779347

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