List of variants reported as likely pathogenic for Lynch syndrome 4

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 166

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	rs121434629	0.00018
NM_000535.7(PMS2):c.1A>G (p.Met1Val)	rs587779333	0.00004
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)	rs267608161	0.00003
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)	rs587779338	0.00002
NM_000535.7(PMS2):c.1144+1G>A	rs373885654	0.00001
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)	rs587778617	0.00001
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter)	rs1064794577	0.00001
NM_000535.7(PMS2):c.164-1G>A	rs763308607	0.00001
NM_000535.7(PMS2):c.2007-2A>C	rs587782336	0.00001
NM_000535.7(PMS2):c.2174+1G>A	rs267608172	0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)	rs587779337	0.00001
NM_000535.7(PMS2):c.23+1G>T	rs587782074	0.00001
NM_000535.7(PMS2):c.251-2A>T	rs587779340	0.00001
NM_000535.7(PMS2):c.2T>C (p.Met1Thr)	rs587780059	0.00001
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp)	rs188006077	0.00001
NM_000535.7(PMS2):c.506G>A (p.Arg169His)	rs730881917	0.00001
NM_000535.7(PMS2):c.538-1G>C	rs988423880	0.00001
NM_000535.7(PMS2):c.538-2A>G	rs758304323	0.00001
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)	rs587779342	0.00001
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter)	rs1458321358	0.00001
NM_000535.7(PMS2):c.804-2A>G	rs1307026290	0.00001
NM_000535.7(PMS2):c.825A>G (p.Gln275=)	rs876659736	0.00001
NM_000321.3(RB1):c.273T>A (p.Tyr91Ter)	rs750136284
NM_000535.7(PMS2):c.1111_1112del (p.Asn371fs)	rs1583334346
NM_000535.7(PMS2):c.1112A>T (p.Asn371Ile)	rs1783517960
NM_000535.7(PMS2):c.1144+1G>C	rs373885654
NM_000535.7(PMS2):c.1144+1G>T	rs373885654
NM_000535.7(PMS2):c.1144+1del	rs2128746842
NM_000535.7(PMS2):c.1144+2T>A	rs267608158
NM_000535.7(PMS2):c.1144+2T>G
NM_000535.7(PMS2):c.1145-2A>G	rs1325835006
NM_000535.7(PMS2):c.1151T>A (p.Leu384Ter)
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
NM_000535.7(PMS2):c.1366del (p.Ser456fs)	rs1583320992
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn)	rs121434629
NM_000535.7(PMS2):c.1418_1419del (p.Glu473fs)	rs1783098862
NM_000535.7(PMS2):c.1552G>T (p.Glu518Ter)
NM_000535.7(PMS2):c.155dup (p.Thr52_Asn53insTer)
NM_000535.7(PMS2):c.1588C>T (p.Gln530Ter)
NM_000535.7(PMS2):c.162_163insAATT (p.Asp55delinsAsnTer)	rs1554306288
NM_000535.7(PMS2):c.163+1G>A	rs1064795705
NM_000535.7(PMS2):c.163+1G>T	rs1064795705
NM_000535.7(PMS2):c.163+5G>C
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs)	rs863224498
NM_000535.7(PMS2):c.164-1G>C	rs763308607
NM_000535.7(PMS2):c.164-1G>T
NM_000535.7(PMS2):c.1675G>T (p.Gly559Ter)
NM_000535.7(PMS2):c.1709dup (p.Asn570fs)	rs1783004175
NM_000535.7(PMS2):c.1721del (p.Pro574fs)	rs1583316404
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs)	rs1057515572
NM_000535.7(PMS2):c.1778del (p.Lys593fs)	rs766389591
NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter)	rs63750456
NM_000535.7(PMS2):c.1810C>T (p.Gln604Ter)	rs1064793426
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)	rs63750250
NM_000535.7(PMS2):c.1859_1860insAT (p.Phe620fs)	rs756358866
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter)	rs1554297125
NM_000535.7(PMS2):c.1938del (p.Lys647fs)	rs2128720948
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val)	rs869320619
NM_000535.7(PMS2):c.2006+1G>A	rs1554297040
NM_000535.7(PMS2):c.2006_2006+4del	rs771928911
NM_000535.7(PMS2):c.2007-1G>A	rs267608170
NM_000535.7(PMS2):c.2007-1G>C
NM_000535.7(PMS2):c.2007-1_2009del
NM_000535.7(PMS2):c.2007-2A>G	rs587782336
NM_000535.7(PMS2):c.2007-4_2007-1delinsACAC	rs1562616355
NM_000535.7(PMS2):c.2039G>A (p.Gly680Asp)
NM_000535.7(PMS2):c.2095G>C (p.Asp699His)	rs587781317
NM_000535.7(PMS2):c.211_214del (p.Asn71fs)
NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter)	rs876659900
NM_000535.7(PMS2):c.2174+1G>C	rs267608172
NM_000535.7(PMS2):c.2174+1G>T
NM_000535.7(PMS2):c.2175-1G>A
NM_000535.7(PMS2):c.2175-1G>C	rs1562605623
NM_000535.7(PMS2):c.2175-2A>G
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)	rs587779335
NM_000535.7(PMS2):c.220G>C (p.Gly74Arg)	rs1554304979
NM_000535.7(PMS2):c.2212_2213del (p.Val738fs)
NM_000535.7(PMS2):c.221G>A (p.Gly74Glu)
NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys)	rs200824831
NM_000535.7(PMS2):c.2247T>G (p.Asn749Lys)
NM_000535.7(PMS2):c.2275+1G>A	rs1554294393
NM_000535.7(PMS2):c.2275+1G>C	rs1554294393
NM_000535.7(PMS2):c.2275+1G>T	rs1554294393
NM_000535.7(PMS2):c.2275+2T>C	rs1562604682
NM_000535.7(PMS2):c.2276-2A>C	rs1554294019
NM_000535.7(PMS2):c.23+1G>A	rs587782074
NM_000535.7(PMS2):c.2397_2400dup (p.Ser801fs)	rs2128672594
NM_000535.7(PMS2):c.24-12_107delinsAAAT	rs1554306445
NM_000535.7(PMS2):c.24-1G>A	rs1785723689
NM_000535.7(PMS2):c.2410A>T (p.Lys804Ter)	rs2128672286
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)	rs730881919
NM_000535.7(PMS2):c.2445+1G>A	rs876661113
NM_000535.7(PMS2):c.2445+1G>C	rs876661113
NM_000535.7(PMS2):c.2445+1G>T	rs876661113
NM_000535.7(PMS2):c.2465T>C (p.Leu822Pro)	rs587781636
NM_000535.7(PMS2):c.2489T>C (p.Leu830Pro)	rs1781502574
NM_000535.7(PMS2):c.2501T>C (p.Met834Thr)
NM_000535.7(PMS2):c.2506del (p.Glu836fs)	rs2128658092
NM_000535.7(PMS2):c.251-1G>C
NM_000535.7(PMS2):c.251-1G>T	rs764171734
NM_000535.7(PMS2):c.251-2A>C	rs587779340
NM_000535.7(PMS2):c.2528G>C (p.Cys843Ser)
NM_000535.7(PMS2):c.2529del (p.His845fs)
NM_000535.7(PMS2):c.2531C>A (p.Pro844His)	rs587782787
NM_000535.7(PMS2):c.2533del (p.His845fs)	rs1064796500
NM_000535.7(PMS2):c.2534A>G (p.His845Arg)	rs1554292741
NM_000535.7(PMS2):c.2535T>G (p.His845Gln)
NM_000535.7(PMS2):c.2549T>G (p.Met850Arg)	rs1781486223
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs)	rs1554304745
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)	rs587780059
NM_000535.7(PMS2):c.304del (p.Glu102fs)
NM_000535.7(PMS2):c.353+1G>A	rs113517055
NM_000535.7(PMS2):c.353+2T>C	rs111466480
NM_000535.7(PMS2):c.353G>A (p.Ser118Asn)	rs1394474494
NM_000535.7(PMS2):c.354-1G>A	rs786203954
NM_000535.7(PMS2):c.354-2A>G	rs786202098
NM_000535.7(PMS2):c.452_457delinsCCCCC (p.Arg151fs)
NM_000535.7(PMS2):c.457del (p.Arg153fs)	rs1785207289
NM_000535.7(PMS2):c.485T>A (p.Leu162Ter)	rs1785199575
NM_000535.7(PMS2):c.520C>T (p.Gln174Ter)	rs1221485925
NM_000535.7(PMS2):c.537+1G>A	rs863224450
NM_000535.7(PMS2):c.537+1del	rs1064793868
NM_000535.7(PMS2):c.538-1G>A	rs988423880
NM_000535.7(PMS2):c.538-2A>C	rs758304323
NM_000535.7(PMS2):c.538-2A>T
NM_000535.7(PMS2):c.538-65_589delinsGCAACATCCAATTGGT
NM_000535.7(PMS2):c.538G>T (p.Glu180Ter)
NM_000535.7(PMS2):c.564dup (p.His189fs)
NM_000535.7(PMS2):c.573C>A (p.Tyr191Ter)
NM_000535.7(PMS2):c.641_644dup (p.Cys216fs)	rs1784802468
NM_000535.7(PMS2):c.705+1G>A	rs267608147
NM_000535.7(PMS2):c.705+1G>T	rs267608147
NM_000535.7(PMS2):c.705+2T>C	rs1784783734
NM_000535.7(PMS2):c.706-2A>T	rs745487791
NM_000535.7(PMS2):c.746_753del (p.Asp249fs)	rs587782710
NM_000535.7(PMS2):c.746_755del (p.Asp249fs)
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer)	rs1064794905
NM_000535.7(PMS2):c.790_803+5del
NM_000535.7(PMS2):c.793_803+7del
NM_000535.7(PMS2):c.79del (p.Cys27fs)
NM_000535.7(PMS2):c.803+1G>A	rs1562669585
NM_000535.7(PMS2):c.803+1G>T	rs1562669585
NM_000535.7(PMS2):c.803+2T>G
NM_000535.7(PMS2):c.804-10T>G	rs267608151
NM_000535.7(PMS2):c.804-11A>G
NM_000535.7(PMS2):c.804-1G>A	rs1562664845
NM_000535.7(PMS2):c.804-1G>C
NM_000535.7(PMS2):c.804-1G>T
NM_000535.7(PMS2):c.841G>T (p.Gly281Ter)
NM_000535.7(PMS2):c.873del (p.Phe291fs)	rs1261282733
NM_000535.7(PMS2):c.903+1G>A	rs1554300689
NM_000535.7(PMS2):c.903+1G>C	rs1554300689
NM_000535.7(PMS2):c.903+1G>T	rs1554300689
NM_000535.7(PMS2):c.903+2T>C	rs878854059
NM_000535.7(PMS2):c.903G>A (p.Lys301=)	rs267608153
NM_000535.7(PMS2):c.903G>C (p.Lys301Asn)
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)	rs267608153
NM_000535.7(PMS2):c.904-1G>A	rs779064342
NM_000535.7(PMS2):c.904-2A>C	rs587781339
NM_000535.7(PMS2):c.904-2A>G	rs587781339
NM_000535.7(PMS2):c.917T>A (p.Val306Glu)	rs786201878
NM_000535.7(PMS2):c.939T>A (p.Tyr313Ter)	rs1562651617
NM_000535.7(PMS2):c.988+1G>C	rs757110564
NM_000535.7(PMS2):c.988+1G>T	rs757110564
NM_000535.7(PMS2):c.989-1G>C
NM_000535.7:c.(1144+1_1145-1)_(2174+1_2175-1)dup

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.