ClinVar Miner

List of variants in gene PMS2 reported as pathogenic for Hereditary nonpolyposis colon cancer

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 159
Download table as spreadsheet
HGVS dbSNP
NC_000007.13:g.(?_6013020)_(6013183_?)del
NC_000007.13:g.(?_6013020)_(6022632_?)del
NC_000007.13:g.(?_6013024)_(6013179_?)del
NC_000007.13:g.(?_6013024)_(6022628_?)del
NC_000007.13:g.(?_6017209)_(6017398_?)del
NC_000007.13:g.(?_6017209)_(6022632_?)del
NC_000007.13:g.(?_6017213)_(6017394_?)del
NC_000007.13:g.(?_6026380)_(6027261_?)del
NC_000007.13:g.(?_6026380)_(6029596_?)del
NC_000007.13:g.(?_6026380)_(6031698_?)del
NC_000007.13:g.(?_6026380)_(6035274_?)del
NC_000007.13:g.(?_6026380)_(6037064_?)del
NC_000007.13:g.(?_6026380)_(6048660_?)del
NC_000007.13:g.(?_6026384)_(6027257_?)del
NC_000007.13:g.(?_6026384)_(6031694_?)del
NC_000007.13:g.(?_6026384)_(6037060_?)del
NC_000007.13:g.(?_6026384)_(6042273_?)del
NC_000007.13:g.(?_6026384)_(6048656_?)del
NC_000007.13:g.(?_6029421)_(6029596_?)del
NC_000007.13:g.(?_6029421)_(6031698_?)del
NC_000007.13:g.(?_6031594)_(6031698_?)del
NC_000007.13:g.(?_6031594)_(6042277_?)del
NC_000007.13:g.(?_6031594)_(6048660_?)del
NC_000007.13:g.(?_6031598)_(6037060_?)del
NC_000007.13:g.(?_6035155)_(6035274_?)del
NC_000007.13:g.(?_6035155)_(6038916_?)del
NC_000007.13:g.(?_6035159)_(6035270_?)del
NC_000007.13:g.(?_6036947)_(6037064_?)del
NC_000007.13:g.(?_6036947)_(6038916_?)del
NC_000007.13:g.(?_6036947)_(6043699_?)del
NC_000007.13:g.(?_6038729)_(6045672_?)del
NC_000007.13:g.(?_6038733)_(6048656_?)del
NC_000007.13:g.(?_6042074)_(6043699_?)del
NC_000007.13:g.(?_6042078)_(6043695_?)del
NC_000007.13:g.(?_6045513)_(6045672_?)del
NC_000007.13:g.(?_6045517)_(6045668_?)del
NC_000007.13:g.(?_6048618)_(6048660_?)del
NM_000535.5(PMS2):c.904-10_*10del
NM_000535.6(PMS2):c.2182_2184delinsG (p.Thr728Alafs) rs1554294508
NM_000535.7(PMS2):c.1021del (p.Arg341fs) rs63750049
NM_000535.7(PMS2):c.1027del (p.Ile343fs) rs1562644987
NM_000535.7(PMS2):c.1036C>T (p.Gln346Ter) rs1554298786
NM_000535.7(PMS2):c.1068del (p.Thr357fs) rs1554298741
NM_000535.7(PMS2):c.1076dup (p.Leu359fs) rs267608156
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs) rs587779326
NM_000535.7(PMS2):c.1115_1118TCAG[1] (p.Gln374fs)
NM_000535.7(PMS2):c.1151T>G (p.Leu384Ter) rs1554298087
NM_000535.7(PMS2):c.1177G>T (p.Glu393Ter)
NM_000535.7(PMS2):c.1181del (p.Lys394fs) rs1554298067
NM_000535.7(PMS2):c.1206del (p.Gln402fs) rs1562636427
NM_000535.7(PMS2):c.1239_1240insT (p.Asp414Ter) rs1562635799
NM_000535.7(PMS2):c.1239dup (p.Asp414fs) rs267608159
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617
NM_000535.7(PMS2):c.1264G>T (p.Glu422Ter) rs587782175
NM_000535.7(PMS2):c.1313dup (p.Thr439fs) rs1562634737
NM_000535.7(PMS2):c.1332del (p.Ser445fs) rs1554297877
NM_000535.7(PMS2):c.1348A>T (p.Lys450Ter) rs1060503142
NM_000535.7(PMS2):c.1366del (p.Ser456fs)
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter) rs587780724
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1425_1428del (p.Ser476fs) rs1554297764
NM_000535.7(PMS2):c.142del (p.Asp48fs) rs1064794173
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter) rs1064794577
NM_000535.7(PMS2):c.1472_1485del (p.Glu491fs) rs1562632035
NM_000535.7(PMS2):c.1481C>A (p.Ser494Ter)
NM_000535.7(PMS2):c.1492_1502del (p.Ser498fs) rs876660459
NM_000535.7(PMS2):c.1500del (p.Val501fs) rs759151952
NM_000535.7(PMS2):c.1500dup (p.Val501fs) rs759151952
NM_000535.7(PMS2):c.1532del (p.Thr511fs) rs1554297636
NM_000535.7(PMS2):c.1553del (p.Glu518fs)
NM_000535.7(PMS2):c.1559del (p.Ala520fs) rs1554297564
NM_000535.7(PMS2):c.1579_1580del (p.Arg527fs) rs1064793234
NM_000535.7(PMS2):c.1579del (p.Arg527fs) rs1554297523
NM_000535.7(PMS2):c.162_163insAATT (p.Asp55delinsAsnTer) rs1554306288
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs) rs863224498
NM_000535.7(PMS2):c.1653C>A (p.Cys551Ter) rs876659162
NM_000535.7(PMS2):c.1672del (p.Thr558fs) rs1562629003
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter) rs587778618
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter) rs267608169
NM_000535.7(PMS2):c.1743del (p.Glu582fs) rs1057517801
NM_000535.7(PMS2):c.1746del (p.Glu583fs) rs1554297285
NM_000535.7(PMS2):c.1778del (p.Lys593fs) rs766389591
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter) rs63750490
NM_000535.7(PMS2):c.1864_1865del (p.Met622fs) rs1060503137
NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer) rs786203073
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter) rs63750451
NM_000535.7(PMS2):c.1892_1902delinsTAAA (p.Gln631fs) rs1562626204
NM_000535.7(PMS2):c.1912del (p.Gln638fs) rs1562626070
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.1959T>A (p.Cys653Ter) rs1554297082
NM_000535.7(PMS2):c.1970del (p.Asn657fs) rs1064794566
NM_000535.7(PMS2):c.1970dup (p.Asn657fs) rs1064794566
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333
NM_000535.7(PMS2):c.1A>T (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.2007-2A>C rs587782336
NM_000535.7(PMS2):c.2016del (p.Met672fs) rs1554295967
NM_000535.7(PMS2):c.2023G>T (p.Glu675Ter)
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.2123del (p.Asn708fs) rs781078805
NM_000535.7(PMS2):c.2128_2142delinsTCGTATA (p.Glu710fs) rs1562614946
NM_000535.7(PMS2):c.2140C>T (p.Gln714Ter) rs1057524433
NM_000535.7(PMS2):c.2156del (p.Gln719fs) rs786201062
NM_000535.7(PMS2):c.2174+1G>A rs267608172
NM_000535.7(PMS2):c.2184_2185TC[1] (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2192T>G (p.Leu731Ter) rs1060503110
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.223del (p.Gly74_Val75insTer) rs1554304974
NM_000535.7(PMS2):c.2249del (p.Gly750fs)
NM_000535.7(PMS2):c.2324_2328delinsGCTGA (p.Asn775_Trp776delinsSerTer) rs1554293959
NM_000535.7(PMS2):c.2353G>T (p.Glu785Ter) rs1554293920
NM_000535.7(PMS2):c.2357_2445+510del rs1562598658
NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs) rs267608160
NM_000535.7(PMS2):c.24-12_107delinsAAAT rs1554306445
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) rs63751466
NM_000535.7(PMS2):c.2413C>T (p.Gln805Ter) rs1554293810
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter) rs730881919
NM_000535.7(PMS2):c.2445+1G>T rs876661113
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter) rs1064794083
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs) rs587781626
NM_000535.7(PMS2):c.251-2A>T rs587779340
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.2T>G (p.Met1Arg) rs587780059
NM_000535.7(PMS2):c.325del (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.325dup (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.3G>A (p.Met1Ile) rs1554309086
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871
NM_000535.7(PMS2):c.445del (p.Tyr149fs) rs769742496
NM_000535.7(PMS2):c.478C>T (p.Gln160Ter)
NM_000535.7(PMS2):c.538-1G>C rs988423880
NM_000535.7(PMS2):c.631C>T (p.Arg211Ter) rs760228510
NM_000535.7(PMS2):c.634C>T (p.Gln212Ter) rs1562678257
NM_000535.7(PMS2):c.648C>A (p.Cys216Ter)
NM_000535.7(PMS2):c.655G>T (p.Gly219Ter) rs1064796190
NM_000535.7(PMS2):c.684_685CT[1] (p.Ser229fs) rs746766787
NM_000535.7(PMS2):c.688_689GT[1] (p.Phe231fs) rs1064795447
NM_000535.7(PMS2):c.697C>T (p.Gln233Ter) rs587779343
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter) rs1458321358
NM_000535.7(PMS2):c.717_723dup (p.Phe242fs)
NM_000535.7(PMS2):c.746_753del (p.Asp249fs) rs587782710
NM_000535.7(PMS2):c.748_749del (p.Ser250fs) rs1554301486
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter) rs573125799
NM_000535.7(PMS2):c.802dup (p.Tyr268fs) rs267608149
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter) rs786201047
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter) rs587780062
NM_000535.7(PMS2):c.828C>A (p.Cys276Ter) rs757324104
NM_000535.7(PMS2):c.851C>G (p.Ser284Ter) rs587782898
NM_000535.7(PMS2):c.853_856ACAG[1] (p.Asp286fs) rs267608154
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.88C>T (p.Gln30Ter) rs141577476
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) rs200640585
NM_000535.7(PMS2):c.945_946AC[1] (p.His316fs) rs878854060
NM_000535.7(PMS2):c.949C>T (p.Gln317Ter) rs143277125
NM_000535.7(PMS2):c.989-1G>T rs587780064
NM_000535.7(PMS2):c.989-2A>G rs587779347
Single allele

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.