List of variants in gene PMS2 reported as likely pathogenic by Invitae

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: 61

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.164-1G>A	rs763308607	0.00001
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu)	rs730881915	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.614A>C (p.Gln205Pro)	rs587779342	0.00001
NM_000535.7(PMS2):c.706-2A>G	rs745487791	0.00001
NC_000007.13:g.(?_6026380)_(6027261_?)dup
NC_000007.13:g.(?_6026384)_(6027257_?)dup
NC_000007.13:g.(?_6036951)_(6038912_?)dup
NC_000007.13:g.(?_6045513)_(6045672_?)dup
NC_000007.14:g.(?_5977578)_(5983001_?)dup
NM_000535.6(PMS2):c.1145-?_2174+?dup1030
NM_000535.6(PMS2):c.2007-?_2174+?del
NM_000535.7(PMS2):c.1144+5G>C	rs1783506726
NM_000535.7(PMS2):c.1144G>C (p.Gly382Arg)	rs779512948
NM_000535.7(PMS2):c.1145-2A>G	rs1325835006
NM_000535.7(PMS2):c.163+1G>T	rs1064795705
NM_000535.7(PMS2):c.164-1G>C	rs763308607
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+1G>C	rs1554297040
NM_000535.7(PMS2):c.2006_2006+4del	rs771928911
NM_000535.7(PMS2):c.2007-4_2007-1delinsACAC	rs1562616355
NM_000535.7(PMS2):c.2095G>C (p.Asp699His)	rs587781317
NM_000535.7(PMS2):c.2175-1G>C	rs1562605623
NM_000535.7(PMS2):c.2276-1G>C	rs2128676082
NM_000535.7(PMS2):c.23+1G>A	rs587782074
NM_000535.7(PMS2):c.23+2T>G	rs2128865814
NM_000535.7(PMS2):c.239_250+2del
NM_000535.7(PMS2):c.2445+1G>C	rs876661113
NM_000535.7(PMS2):c.250+1G>A
NM_000535.7(PMS2):c.251-1G>T	rs764171734
NM_000535.7(PMS2):c.2531C>A (p.Pro844His)	rs587782787
NM_000535.7(PMS2):c.2536G>T (p.Gly846Ter)	rs1583269216
NM_000535.7(PMS2):c.353+1G>A	rs113517055
NM_000535.7(PMS2):c.353+2T>A
NM_000535.7(PMS2):c.353+2T>C	rs111466480
NM_000535.7(PMS2):c.353+2T>G
NM_000535.7(PMS2):c.353G>A (p.Ser118Asn)	rs1394474494
NM_000535.7(PMS2):c.353G>C (p.Ser118Thr)
NM_000535.7(PMS2):c.354-41_514del	rs2128815961
NM_000535.7(PMS2):c.537+1G>A	rs863224450
NM_000535.7(PMS2):c.705+1G>A	rs267608147
NM_000535.7(PMS2):c.705+1G>C	rs267608147
NM_000535.7(PMS2):c.706-1G>A	rs1202370194
NM_000535.7(PMS2):c.706-1G>T
NM_000535.7(PMS2):c.706-2A>T	rs745487791
NM_000535.7(PMS2):c.706-73_748del
NM_000535.7(PMS2):c.803+5G>A	rs939641251
NM_000535.7(PMS2):c.804-10T>G	rs267608151
NM_000535.7(PMS2):c.811G>C (p.Gly271Arg)
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.904-1G>A	rs779064342
NM_000535.7(PMS2):c.904-2A>G	rs587781339
NM_000535.7(PMS2):c.988+1G>C	rs757110564
NM_000535.7(PMS2):c.988+1G>T	rs757110564
NM_000535.7(PMS2):c.9_23+7del	rs1562711587

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