List of variants in gene PMS2 reported as likely pathogenic by Quest Diagnostics Nichols Institute San Juan Capistrano

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: 36

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu)	rs730881915	0.00001
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp)	rs188006077	0.00001
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter)	rs1458321358	0.00001
NM_000535.7(PMS2):c.1017_1018insG (p.Lys340fs)	rs2535938248
NM_000535.7(PMS2):c.1144+1G>C	rs373885654
NM_000535.7(PMS2):c.116del (p.Val39fs)	rs1064794152
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del)	rs863224676
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn)	rs121434629
NM_000535.7(PMS2):c.163+1G>A	rs1064795705
NM_000535.7(PMS2):c.164-9_178delinsGATCC	rs1583410952
NM_000535.7(PMS2):c.1778del (p.Lys593fs)	rs766389591
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter)	rs1554297125
NM_000535.7(PMS2):c.1924del (p.Glu642fs)	rs2128721171
NM_000535.7(PMS2):c.1938del (p.Lys647fs)	rs2128720948
NM_000535.7(PMS2):c.1970del (p.Asn657fs)	rs1064794566
NM_000535.7(PMS2):c.1998dup (p.Glu667fs)
NM_000535.7(PMS2):c.1A>C (p.Met1Leu)	rs587779333
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val)	rs869320619
NM_000535.7(PMS2):c.2095G>C (p.Asp699His)	rs587781317
NM_000535.7(PMS2):c.214_215insAAGTTTCA (p.Gly72fs)	rs1785419483
NM_000535.7(PMS2):c.220G>C (p.Gly74Arg)	rs1554304979
NM_000535.7(PMS2):c.2275+1G>T	rs1554294393
NM_000535.7(PMS2):c.2444_2445insTT (p.Val816fs)	rs2128671557
NM_000535.7(PMS2):c.2446-2A>G	rs886039709
NM_000535.7(PMS2):c.2506G>T (p.Glu836Ter)	rs786201039
NM_000535.7(PMS2):c.2536G>T (p.Gly846Ter)	rs1583269216
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs)	rs1554304745
NM_000535.7(PMS2):c.353G>A (p.Ser118Asn)	rs1394474494
NM_000535.7(PMS2):c.375C>A (p.Cys125Ter)	rs1562690527
NM_000535.7(PMS2):c.452del (p.Arg151fs)	rs745763201
NM_000535.7(PMS2):c.726del (p.Phe242fs)	rs1583375132
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer)	rs1064794905
NM_000535.7(PMS2):c.803+1G>A	rs1562669585
NM_000535.7(PMS2):c.804-10T>G	rs267608151
NM_000535.7(PMS2):c.903+1G>A	rs1554300689
NM_000535.7(PMS2):c.960del (p.Phe320fs)	rs2536008648

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