ClinVar Miner

List of variants in gene PMS2 reported as pathogenic by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 93
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HGVS dbSNP
NM_000535.6(PMS2):c.2182_2184delinsG (p.Thr728Alafs) rs1554294508
NM_000535.6(PMS2):c.736_741delCCCCCTins11 (p.?)
NM_000535.7(PMS2):c.1021del (p.Arg341fs) rs63750049
NM_000535.7(PMS2):c.1067del (p.Lys356fs) rs587781395
NM_000535.7(PMS2):c.1076dup (p.Leu359fs) rs267608156
NM_000535.7(PMS2):c.1164del (p.His388fs) rs1554298082
NM_000535.7(PMS2):c.1181del (p.Lys394fs) rs1554298067
NM_000535.7(PMS2):c.1196dup (p.Gln400fs) rs1554298056
NM_000535.7(PMS2):c.1198C>T (p.Gln400Ter) rs876658862
NM_000535.7(PMS2):c.119_122dup (p.Leu42fs) rs1554306391
NM_000535.7(PMS2):c.1239dup (p.Asp414fs) rs267608159
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617
NM_000535.7(PMS2):c.1345C>T (p.Gln449Ter) rs876661256
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.139_146del (p.Leu47fs) rs886039615
NM_000535.7(PMS2):c.1408delinsGTCTTCTAGCACTTCAGGTGCCATCTCTGACAAAGGCGTCCTGAGAT (p.Pro470delinsValPheTer) rs1554297781
NM_000535.7(PMS2):c.1411C>T (p.Gln471Ter) rs63751228
NM_000535.7(PMS2):c.1425_1428del (p.Ser476fs) rs1554297764
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter) rs1064794577
NM_000535.7(PMS2):c.1492_1502del (p.Ser498fs) rs876660459
NM_000535.7(PMS2):c.1571dup (p.Gly525fs) rs1554297534
NM_000535.7(PMS2):c.1579_1580del (p.Arg527fs) rs1064793234
NM_000535.7(PMS2):c.1606C>T (p.Gln536Ter) rs1554297488
NM_000535.7(PMS2):c.162_163insAATT (p.Asp55delinsAsnTer) rs1554306288
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.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.1912C>T (p.Gln638Ter) rs764342199
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.1981G>T (p.Glu661Ter) rs778531080
NM_000535.7(PMS2):c.1987G>T (p.Glu663Ter) rs1554297061
NM_000535.7(PMS2):c.1999_2000GA[1] (p.Glu667fs) rs1554297058
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.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter) rs876659900
NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter) rs876659480
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>A (p.Leu731Ter) rs1060503110
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.2296A>T (p.Lys766Ter) rs1554293991
NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs) rs267608160
NM_000535.7(PMS2):c.2382dup (p.Gly795fs) rs1231406078
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) rs63751466
NM_000535.7(PMS2):c.240del (p.Phe80fs) rs1554304957
NM_000535.7(PMS2):c.2413C>T (p.Gln805Ter) rs1554293810
NM_000535.7(PMS2):c.2445+1G>T rs876661113
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs) rs587781626
NM_000535.7(PMS2):c.2506G>T (p.Glu836Ter) rs786201039
NM_000535.7(PMS2):c.251-2A>C rs587779340
NM_000535.7(PMS2):c.251-2A>T rs587779340
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.2T>C (p.Met1Thr) 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.354-1G>A rs786203954
NM_000535.7(PMS2):c.354-2A>G rs786202098
NM_000535.7(PMS2):c.383C>A (p.Ser128Ter) rs116373169
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.535A>T (p.Lys179Ter) rs1554303861
NM_000535.7(PMS2):c.631C>T (p.Arg211Ter) rs760228510
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.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.746_753del (p.Asp249fs) rs587782710
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter) rs573125799
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.851C>G (p.Ser284Ter) rs587782898
NM_000535.7(PMS2):c.851del (p.Ser283_Ser284insTer) rs876658964
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.904-2A>G rs587781339
NM_000535.7(PMS2):c.922_933delinsA (p.Glu308fs) rs1554299430
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.989-1G>T rs587780064
NM_000535.7(PMS2):c.989-2A>G rs587779347

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