List of variants reported as uncertain significance for PGM1-congenital disorder of glycosylation

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 137

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HGVS	dbSNP	gnomAD frequency
NM_002633.3(PGM1):c.1400C>A (p.Thr467Asn)	rs150266274	0.00137
NM_002633.3(PGM1):c.*236T>C	rs534628770	0.00128
NM_002633.3(PGM1):c.572C>T (p.Ser191Leu)	rs147971989	0.00072
NM_002633.3(PGM1):c.-39C>G	rs370035290	0.00060
NM_002633.3(PGM1):c.1143C>T (p.Thr381=)	rs140035988	0.00045
NM_002633.3(PGM1):c.1103C>T (p.Ala368Val)	rs145972303	0.00026
NM_002633.3(PGM1):c.734C>T (p.Ala245Val)	rs929270819	0.00025
NM_002633.3(PGM1):c.420A>G (p.Pro140=)	rs141007881	0.00021
NM_002633.3(PGM1):c.371A>G (p.Asn124Ser)	rs367689770	0.00018
NM_002633.3(PGM1):c.1600-3C>T	rs375450688	0.00016
NM_002633.3(PGM1):c.900T>C (p.His300=)	rs145807501	0.00016
NM_002633.3(PGM1):c.529T>G (p.Leu177Val)	rs112293909	0.00014
NM_002633.3(PGM1):c.1028G>A (p.Arg343Gln)	rs370265239	0.00013
NM_002633.3(PGM1):c.1028+11C>A	rs541069522	0.00011
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg)	rs200407907	0.00010
NM_002633.3(PGM1):c.253C>T (p.Arg85Cys)	rs150286818	0.00009
NM_002633.3(PGM1):c.*72A>G	rs761043925	0.00006
NM_002633.3(PGM1):c.442T>G (p.Phe148Val)	rs755467080	0.00006
NM_002633.3(PGM1):c.975G>T (p.Gln325His)	rs574355735	0.00006
NM_002633.3(PGM1):c.1048A>G (p.Ile350Val)	rs751121095	0.00004
NM_002633.3(PGM1):c.1160G>A (p.Arg387His)	rs548040301	0.00004
NM_002633.3(PGM1):c.1336G>A (p.Glu446Lys)	rs199918985	0.00004
NM_002633.3(PGM1):c.1355G>A (p.Arg452His)	rs147763516	0.00004
NM_002633.3(PGM1):c.178G>C (p.Gly60Arg)	rs1287963513	0.00004
NM_002633.3(PGM1):c.650G>A (p.Arg217Gln)	rs188291855	0.00004
NM_002633.3(PGM1):c.708C>G (p.Ile236Met)	rs200237046	0.00004
NM_002633.3(PGM1):c.1144+10A>G	rs886046482	0.00003
NM_002633.3(PGM1):c.1195C>G (p.Leu399Val)	rs200065327	0.00003
NM_002633.3(PGM1):c.138C>A (p.Thr46=)	rs767357022	0.00003
NM_002633.3(PGM1):c.318C>G (p.Ile106Met)	rs781551165	0.00003
NM_002633.3(PGM1):c.1311C>T (p.Gly437=)	rs774957793	0.00002
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp)	rs775651976	0.00002
NM_002633.3(PGM1):c.254G>A (p.Arg85His)	rs200225686	0.00002
NM_002633.3(PGM1):c.602G>A (p.Ser201Asn)	rs139241922	0.00002
NM_002633.3(PGM1):c.*348G>A	rs58522038	0.00001
NM_002633.3(PGM1):c.*357A>G	rs886046484	0.00001
NM_002633.3(PGM1):c.1102G>A (p.Ala368Thr)	rs748252747	0.00001
NM_002633.3(PGM1):c.1367G>T (p.Gly456Val)	rs777570538	0.00001
NM_002633.3(PGM1):c.1577C>G (p.Ala526Gly)	rs757573887	0.00001
NM_002633.3(PGM1):c.160G>A (p.Glu54Lys)	rs772628932	0.00001
NM_002633.3(PGM1):c.187G>T (p.Gly63Cys)	rs759782258	0.00001
NM_002633.3(PGM1):c.265G>A (p.Gly89Arg)	rs377500536	0.00001
NM_002633.3(PGM1):c.327T>C (p.Ile109=)	rs770271653	0.00001
NM_002633.3(PGM1):c.356A>G (p.Asn119Ser)	rs1213089649	0.00001
NM_002633.3(PGM1):c.425C>T (p.Ala142Val)	rs1276461747	0.00001
NM_002633.3(PGM1):c.76G>A (p.Val26Met)	rs1300863085	0.00001
NM_002633.3(PGM1):c.783C>T (p.His261=)	rs886046481	0.00001
NM_002633.3(PGM1):c.873+6T>C	rs368068987	0.00001
NM_002633.3(PGM1):c.878G>A (p.Arg293Gln)	rs1466885233	0.00001
NM_002633.3(PGM1):c.985C>T (p.Arg329Cys)	rs778199808	0.00001
NM_002633.3(PGM1):c.986G>A (p.Arg329His)	rs747394265	0.00001
NC_000001.10:g.(?_64059160)_(64059425_?)dup
NM_002633.3(PGM1):c.*231C>T	rs886046483
NM_002633.3(PGM1):c.*388T>G	rs1650077445
NM_002633.3(PGM1):c.*484G>A	rs755055776
NM_002633.3(PGM1):c.*484G>C	rs755055776
NM_002633.3(PGM1):c.1014T>A (p.Ser338Arg)	rs1553121290
NM_002633.3(PGM1):c.1019C>G (p.Ala340Gly)
NM_002633.3(PGM1):c.1029-8C>G	rs752232600
NM_002633.3(PGM1):c.1058A>G (p.Tyr353Cys)
NM_002633.3(PGM1):c.1065C>A (p.Thr355=)	rs773677629
NM_002633.3(PGM1):c.1067C>T (p.Pro356Leu)
NM_002633.3(PGM1):c.107C>A (p.Ala36Glu)	rs146477640
NM_002633.3(PGM1):c.107C>T (p.Ala36Val)
NM_002633.3(PGM1):c.1081T>A (p.Phe361Ile)
NM_002633.3(PGM1):c.1083T>C (p.Phe361=)
NM_002633.3(PGM1):c.1106G>A (p.Ser369Asn)
NM_002633.3(PGM1):c.1115C>T (p.Ser372Phe)
NM_002633.3(PGM1):c.1138G>A (p.Gly380Arg)
NM_002633.3(PGM1):c.1141A>G (p.Thr381Ala)
NM_002633.3(PGM1):c.1144G>A (p.Gly382Ser)
NM_002633.3(PGM1):c.119T>C (p.Ile40Thr)
NM_002633.3(PGM1):c.1201A>G (p.Ile401Val)	rs760318393
NM_002633.3(PGM1):c.1204C>G (p.Leu402Val)
NM_002633.3(PGM1):c.120C>G (p.Ile40Met)
NM_002633.3(PGM1):c.1213C>A (p.Arg405Ser)	rs754131603
NM_002633.3(PGM1):c.1234A>C (p.Ile412Leu)	rs567337429
NM_002633.3(PGM1):c.125G>A (p.Ser42Asn)	rs374207269
NM_002633.3(PGM1):c.1291G>A (p.Glu431Lys)
NM_002633.3(PGM1):c.1312G>A (p.Ala438Thr)
NM_002633.3(PGM1):c.134C>T (p.Ser45Phe)
NM_002633.3(PGM1):c.1358C>G (p.Ser453Cys)
NM_002633.3(PGM1):c.1394T>A (p.Val465Asp)
NM_002633.3(PGM1):c.1411G>A (p.Ala471Thr)	rs148979330
NM_002633.3(PGM1):c.1464+14_1464+15delinsTA
NM_002633.3(PGM1):c.1464+19G>C
NM_002633.3(PGM1):c.1523G>A (p.Gly508Glu)
NM_002633.3(PGM1):c.152A>G (p.Gln51Arg)
NM_002633.3(PGM1):c.1538C>T (p.Thr513Ile)
NM_002633.3(PGM1):c.1540A>G (p.Ile514Val)	rs1649904020
NM_002633.3(PGM1):c.1555G>A (p.Asp519Asn)
NM_002633.3(PGM1):c.155G>A (p.Arg52Gln)	rs377179134
NM_002633.3(PGM1):c.1573G>A (p.Val525Ile)
NM_002633.3(PGM1):c.1585A>T (p.Asn529Tyr)
NM_002633.3(PGM1):c.1599+5C>T
NM_002633.3(PGM1):c.1599+6G>A
NM_002633.3(PGM1):c.1599+6G>T
NM_002633.3(PGM1):c.1600-523G>A
NM_002633.3(PGM1):c.1664G>A (p.Arg555His)
NM_002633.3(PGM1):c.1678G>A (p.Val560Ile)	rs1650066188
NM_002633.3(PGM1):c.184G>C (p.Asp62His)	rs587777403
NM_002633.3(PGM1):c.199A>G (p.Met67Val)	rs561236041
NM_002633.3(PGM1):c.203A>T (p.Lys68Met)
NM_002633.3(PGM1):c.216G>C (p.Gln72His)	rs1280037054
NM_002633.3(PGM1):c.244G>T (p.Gly82Trp)	rs199928376
NM_002633.3(PGM1):c.246+20_246+21delinsAA
NM_002633.3(PGM1):c.246G>A (p.Gly82=)
NM_002633.3(PGM1):c.247-5C>T	rs1649127861
NM_002633.3(PGM1):c.24G>T (p.Lys8Asn)
NM_002633.3(PGM1):c.265_266delinsTT (p.Gly89Leu)
NM_002633.3(PGM1):c.322G>A (p.Ala108Thr)	rs1356647959
NM_002633.3(PGM1):c.326T>C (p.Ile109Thr)
NM_002633.3(PGM1):c.38A>C (p.Gln13Pro)
NM_002633.3(PGM1):c.409+6T>C	rs2100982034
NM_002633.3(PGM1):c.460A>G (p.Ile154Val)
NM_002633.3(PGM1):c.463G>A (p.Glu155Lys)
NM_002633.3(PGM1):c.512G>A (p.Gly171Glu)
NM_002633.3(PGM1):c.556+3A>G
NM_002633.3(PGM1):c.574G>A (p.Val192Ile)
NM_002633.3(PGM1):c.5T>G (p.Val2Gly)
NM_002633.3(PGM1):c.602G>T (p.Ser201Ile)
NM_002633.3(PGM1):c.606C>G (p.Ile202Met)
NM_002633.3(PGM1):c.696T>C (p.Tyr232=)	rs886046480
NM_002633.3(PGM1):c.741G>A (p.Ser247=)	rs142222746
NM_002633.3(PGM1):c.770T>C (p.Phe257Ser)
NM_002633.3(PGM1):c.794A>G (p.Asn265Ser)
NM_002633.3(PGM1):c.821A>G (p.Glu274Gly)
NM_002633.3(PGM1):c.827T>G (p.Met276Arg)	rs1649325171
NM_002633.3(PGM1):c.836G>A (p.Gly279Glu)
NM_002633.3(PGM1):c.838G>C (p.Glu280Gln)
NM_002633.3(PGM1):c.873+5G>T
NM_002633.3(PGM1):c.91A>G (p.Ser31Gly)	rs2100947698
NM_002633.3(PGM1):c.929T>C (p.Val310Ala)
NM_002633.3(PGM1):c.973C>A (p.Gln325Lys)
NM_002633.3(PGM1):c.97G>C (p.Ala33Pro)
NM_002633.3(PGM1):c.980G>C (p.Gly327Ala)
NM_002633.3(PGM1):c.980G>T (p.Gly327Val)

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