List of variants in gene PMS2 reported as pathogenic by Department of Pathology and Laboratory Medicine, Sinai Health System

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

Total variants: 41

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	rs121434629	0.00018
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)	rs587778617	0.00001
NM_000535.7(PMS2):c.251-2A>T	rs587779340	0.00001
NM_000535.7(PMS2):c.538-1G>C	rs988423880	0.00001
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)	rs200640585	0.00001
NM_000535.7(PMS2):c.1119_1122del (p.Gln374fs)	rs757679199
NM_000535.7(PMS2):c.1144+1del	rs2128746842
NM_000535.7(PMS2):c.1145-1_2006+2del	rs2128719778
NM_000535.7(PMS2):c.1145-982_2006+2del
NM_000535.7(PMS2):c.1181del (p.Lys394fs)	rs1554298067
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter)	rs587778618
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs)	rs1057515572
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)	rs63750250
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter)	rs63750490
NM_000535.7(PMS2):c.1A>T (p.Met1Leu)	rs587779333
NM_000535.7(PMS2):c.2117del (p.Lys706fs)	rs587782704
NM_000535.7(PMS2):c.2156del (p.Gln719fs)	rs786201062
NM_000535.7(PMS2):c.2175-1335_2445+4del
NM_000535.7(PMS2):c.2184del (p.Leu729fs)	rs1554294505
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)	rs587779335
NM_000535.7(PMS2):c.2276-1_2445+2del	rs2128671526
NM_000535.7(PMS2):c.2445+1601_*3del
NM_000535.7(PMS2):c.2445+1763_*2del
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.2446-170_*3del	rs2128656455
NM_000535.7(PMS2):c.2446-440_*2del	rs2128656484
NM_000535.7(PMS2):c.2446_2589del (p.Val816_Ter863del)	rs1554292684
NM_000535.7(PMS2):c.2458dup (p.Thr820fs)	rs1554292880
NM_000535.7(PMS2):c.2492_2493del (p.Ile831fs)	rs2128658402
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs)	rs587781626
NM_000535.7(PMS2):c.2506del (p.Glu836fs)	rs2128658092
NM_000535.7(PMS2):c.368del (p.Ser123fs)	rs2128819251
NM_000535.7(PMS2):c.538-41_538-40insATTCCTATAATA	rs2128802890
NM_000535.7(PMS2):c.655G>T (p.Gly219Ter)	rs1064796190
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.804-267_903+2del	rs2128774241
NM_000535.7(PMS2):c.904-199_988+2del	rs2128754923
NM_000535.7(PMS2):c.989-1_1144+2del	rs2128746824

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