ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 58
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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.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.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.1221del (p.Thr408fs) rs587776715
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617
NM_000535.7(PMS2):c.1306dup (p.Ser436fs) rs63750106
NM_000535.7(PMS2):c.1730dup (p.Arg578fs) rs587779330
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter) rs267608169
NM_000535.7(PMS2):c.1768del (p.Ile590fs) rs63750477
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.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.2174+1G>A rs267608172
NM_000535.7(PMS2):c.217_218TG[3] (p.Gly74fs) rs587779336
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.2276-113_2445+1596del
NM_000535.7(PMS2):c.2276-91_2445+790del
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.400C>T (p.Arg134Ter) rs63750871
NM_000535.7(PMS2):c.538-478_705+456del
NM_000535.7(PMS2):c.543del (p.Glu180_Tyr181insTer) rs63751029
NM_000535.7(PMS2):c.593dup (p.Arg199fs) rs267608148
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.780del (p.Asp261fs) rs587779344
NM_000535.7(PMS2):c.802dup (p.Tyr268fs) rs267608149
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.943C>T (p.Arg315Ter) rs200640585
NM_000535.7(PMS2):c.949C>T (p.Gln317Ter) rs143277125
NM_000535.7(PMS2):c.989-296_1144+706del

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