List of variants in gene PMS2 reported as uncertain significance by Mendelics

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: 51

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter)	rs587780057	0.00174
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp)	rs149202766	0.00142
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)	rs146176004	0.00059
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys)	rs375289386	0.00029
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)	rs139438201	0.00022
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)	rs587780046	0.00017
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)	rs201343342	0.00016
NM_000535.7(PMS2):c.2445G>A (p.Ser815=)	rs753199796	0.00012
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His)	rs370236216	0.00011
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)	rs116788608	0.00011
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg)	rs151251082	0.00010
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)	rs199739859	0.00008
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly)	rs144389038	0.00005
NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg)	rs536111818	0.00004
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile)	rs553286217	0.00004
NM_000535.7(PMS2):c.475G>A (p.Val159Met)	rs142416537	0.00004
NM_000535.7(PMS2):c.611A>G (p.Asn204Ser)	rs777903002	0.00004
NM_000535.7(PMS2):c.917T>C (p.Val306Ala)	rs786201878	0.00003
NM_000535.7(PMS2):c.113C>T (p.Ala38Val)	rs148270248	0.00002
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr)	rs386833410	0.00002
NM_000535.7(PMS2):c.2062A>G (p.Ile688Val)	rs1060503144	0.00001
NM_000535.7(PMS2):c.2405G>A (p.Arg802Gln)	rs1060503143	0.00001
NM_000535.7(PMS2):c.451C>T (p.Arg151Cys)	rs758561884	0.00001
NM_000535.7(PMS2):c.825A>T (p.Gln275His)	rs876659736	0.00001
NM_000535.7(PMS2):c.881G>A (p.Arg294Gln)	rs373239341	0.00001
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg)	rs56203955	0.00001
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly)	rs587782852	0.00001
NM_000535.7(PMS2):c.1171G>C (p.Asp391His)	rs1064795020
NM_000535.7(PMS2):c.1180A>G (p.Lys394Glu)	rs1583323711
NM_000535.7(PMS2):c.1219A>G (p.Arg407Gly)	rs776725795
NM_000535.7(PMS2):c.1271T>C (p.Phe424Ser)	rs876661186
NM_000535.7(PMS2):c.134A>G (p.Asn45Ser)	rs1554306353
NM_000535.7(PMS2):c.1354G>C (p.Gly452Arg)	rs569947936
NM_000535.7(PMS2):c.1473G>C (p.Glu491Asp)	rs530105089
NM_000535.7(PMS2):c.1511A>G (p.Glu504Gly)	rs1254121331
NM_000535.7(PMS2):c.1534G>A (p.Gly512Ser)	rs1060503127
NM_000535.7(PMS2):c.1564A>G (p.Ser522Gly)	rs1554297553
NM_000535.7(PMS2):c.1593_1610dup (p.His532_Glu537dup)	rs587780043
NM_000535.7(PMS2):c.1633T>C (p.Ser545Pro)	rs1247571278
NM_000535.7(PMS2):c.1700A>G (p.Gln567Arg)	rs112104877
NM_000535.7(PMS2):c.1759A>C (p.Ser587Arg)	rs1554297277
NM_000535.7(PMS2):c.194T>G (p.Leu65Arg)	rs749141001
NM_000535.7(PMS2):c.2167C>G (p.Leu723Val)	rs1456057054
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)	rs587779335
NM_000535.7(PMS2):c.2502G>T (p.Met834Ile)	rs1554292818
NM_000535.7(PMS2):c.439A>C (p.Thr147Pro)	rs1583403496
NM_000535.7(PMS2):c.446A>C (p.Tyr149Ser)	rs1554304003
NM_000535.7(PMS2):c.552G>T (p.Met184Ile)	rs764853641
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe)	rs201395630
NM_000535.7(PMS2):c.948C>A (p.His316Gln)	rs1219573982
NM_000535.7(PMS2):c.989-3T>C	rs1156325177

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