List of variants reported as uncertain significance for Glycogen storage disease IXa1

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 113

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HGVS	dbSNP	gnomAD frequency
NM_000292.3(PHKA2):c.785T>G (p.Ile262Ser)	rs145406549	0.00055
NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu)	rs199792389	0.00011
NM_000292.3(PHKA2):c.1927G>C (p.Asp643His)	rs369400689	0.00011
NM_000292.3(PHKA2):c.1060G>A (p.Ala354Thr)	rs746875668	0.00007
NM_000292.3(PHKA2):c.2665G>A (p.Val889Ile)	rs199948654	0.00007
NM_000292.3(PHKA2):c.3289G>A (p.Gly1097Ser)	rs145952475	0.00007
NM_000292.3(PHKA2):c.1657T>C (p.Cys553Arg)	rs140703161	0.00006
NM_000292.3(PHKA2):c.2848G>A (p.Asp950Asn)	rs747153540	0.00006
NM_000292.3(PHKA2):c.1618G>A (p.Val540Met)	rs368594655	0.00005
NM_000292.3(PHKA2):c.2137+5G>A	rs372314504	0.00005
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly)	rs140014925	0.00005
NM_000292.3(PHKA2):c.1384G>A (p.Val462Ile)	rs1389980232	0.00004
NM_000292.3(PHKA2):c.1561A>G (p.Thr521Ala)	rs137958637	0.00004
NM_000292.3(PHKA2):c.2203T>G (p.Ser735Ala)	rs199904295	0.00004
NM_000292.3(PHKA2):c.2971G>A (p.Gly991Arg)	rs750628677	0.00004
NM_000292.3(PHKA2):c.3326C>A (p.Thr1109Lys)	rs780391791	0.00004
NM_000292.3(PHKA2):c.1576G>A (p.Asp526Asn)	rs778051353	0.00003
NM_000292.3(PHKA2):c.1603G>A (p.Asp535Asn)	rs756254299	0.00003
NM_000292.3(PHKA2):c.200G>A (p.Arg67His)	rs768524028	0.00003
NM_000292.3(PHKA2):c.1724G>A (p.Gly575Asp)	rs757718008	0.00002
NM_000292.3(PHKA2):c.308A>G (p.Lys103Arg)	rs2048680804	0.00002
NM_000292.3(PHKA2):c.3111+5C>T	rs756217257	0.00002
NM_000292.3(PHKA2):c.448G>A (p.Ala150Thr)	rs750886848	0.00002
NM_000292.3(PHKA2):c.869G>A (p.Arg290His)	rs186632999	0.00002
NM_000292.3(PHKA2):c.1099C>T (p.Arg367Cys)	rs1287580250	0.00001
NM_000292.3(PHKA2):c.1499G>A (p.Arg500Gln)	rs753412659	0.00001
NM_000292.3(PHKA2):c.2161A>G (p.Lys721Glu)	rs368123691	0.00001
NM_000292.3(PHKA2):c.2407G>A (p.Val803Ile)	rs766866500	0.00001
NM_000292.3(PHKA2):c.2443G>A (p.Gly815Ser)	rs747280022	0.00001
NM_000292.3(PHKA2):c.2462G>T (p.Gly821Val)	rs373884791	0.00001
NM_000292.3(PHKA2):c.2686G>T (p.Val896Phe)	rs2047817433	0.00001
NM_000292.3(PHKA2):c.2789G>A (p.Arg930Gln)	rs201611776	0.00001
NM_000292.3(PHKA2):c.3127T>C (p.Ser1043Pro)	rs757379156	0.00001
NM_000292.3(PHKA2):c.535G>A (p.Ala179Thr)	rs749441642	0.00001
NM_000292.3(PHKA2):c.721A>G (p.Ile241Val)	rs367696431	0.00001
NC_000023.10:g.(?_17393881)_(20284750_?)dup
NC_000023.11:g.18905859_18905861del	rs2047801126
NM_000292.3(PHKA2):c.1081A>G (p.Arg361Gly)
NM_000292.3(PHKA2):c.1121C>T (p.Ala374Val)
NM_000292.3(PHKA2):c.1153A>G (p.Lys385Glu)
NM_000292.3(PHKA2):c.1168G>A (p.Val390Ile)
NM_000292.3(PHKA2):c.1462C>T (p.Arg488Trp)
NM_000292.3(PHKA2):c.1490G>A (p.Arg497Gln)	rs2048199652
NM_000292.3(PHKA2):c.1492C>A (p.Pro498Thr)
NM_000292.3(PHKA2):c.1519A>G (p.Thr507Ala)
NM_000292.3(PHKA2):c.1569+3G>A
NM_000292.3(PHKA2):c.1655C>T (p.Thr552Ile)
NM_000292.3(PHKA2):c.167G>A (p.Gly56Asp)	rs2147995267
NM_000292.3(PHKA2):c.1757T>G (p.Ile586Ser)
NM_000292.3(PHKA2):c.1775G>T (p.Gly592Val)	rs370965746
NM_000292.3(PHKA2):c.1794-8_1794-6del
NM_000292.3(PHKA2):c.1964-3C>T	rs1035866155
NM_000292.3(PHKA2):c.1975G>A (p.Glu659Lys)
NM_000292.3(PHKA2):c.218A>G (p.Lys73Arg)
NM_000292.3(PHKA2):c.2381A>G (p.Asn794Ser)	rs886801187
NM_000292.3(PHKA2):c.2401G>T (p.Val801Phe)
NM_000292.3(PHKA2):c.2470C>T (p.Arg824Cys)	rs2047851598
NM_000292.3(PHKA2):c.2471G>C (p.Arg824Pro)	rs1569298640
NM_000292.3(PHKA2):c.2503G>A (p.Glu835Lys)	rs1234436850
NM_000292.3(PHKA2):c.2517+5G>A	rs2047850403
NM_000292.3(PHKA2):c.2597+2dup	rs2047830748
NM_000292.3(PHKA2):c.2598G>T (p.Ala866=)
NM_000292.3(PHKA2):c.2600C>T (p.Pro867Leu)
NM_000292.3(PHKA2):c.272G>A (p.Cys91Tyr)	rs2147991232
NM_000292.3(PHKA2):c.2735T>C (p.Met912Thr)	rs1158193880
NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro)	rs1324893950
NM_000292.3(PHKA2):c.286-10del	rs766261786
NM_000292.3(PHKA2):c.2864T>C (p.Leu955Pro)	rs2147851573
NM_000292.3(PHKA2):c.2894G>A (p.Gly965Asp)
NM_000292.3(PHKA2):c.2969C>T (p.Thr990Ile)
NM_000292.3(PHKA2):c.3028A>G (p.Met1010Val)	rs1601700586
NM_000292.3(PHKA2):c.3064T>A (p.Ser1022Thr)	rs773766679
NM_000292.3(PHKA2):c.3121A>G (p.Thr1041Ala)
NM_000292.3(PHKA2):c.3174C>G (p.Ile1058Met)
NM_000292.3(PHKA2):c.3205C>T (p.Arg1069Cys)
NM_000292.3(PHKA2):c.3262G>A (p.Val1088Met)
NM_000292.3(PHKA2):c.3284G>A (p.Cys1095Tyr)
NM_000292.3(PHKA2):c.3287A>G (p.His1096Arg)
NM_000292.3(PHKA2):c.3336G>C (p.Glu1112Asp)
NM_000292.3(PHKA2):c.3344C>T (p.Pro1115Leu)
NM_000292.3(PHKA2):c.3356A>G (p.Lys1119Arg)	rs2047493147
NM_000292.3(PHKA2):c.3373G>A (p.Glu1125Lys)	rs1555988071
NM_000292.3(PHKA2):c.3388C>T (p.Arg1130Cys)
NM_000292.3(PHKA2):c.3409C>T (p.Arg1137Trp)
NM_000292.3(PHKA2):c.3410G>C (p.Arg1137Pro)
NM_000292.3(PHKA2):c.3422T>A (p.Val1141Glu)
NM_000292.3(PHKA2):c.3424G>A (p.Glu1142Lys)
NM_000292.3(PHKA2):c.346T>A (p.Tyr116Asn)	rs1601776489
NM_000292.3(PHKA2):c.3491T>A (p.Val1164Glu)	rs2147802543
NM_000292.3(PHKA2):c.3516T>G (p.Ser1172Arg)
NM_000292.3(PHKA2):c.3557A>C (p.Asp1186Ala)
NM_000292.3(PHKA2):c.3590G>T (p.Cys1197Phe)	rs1569286164
NM_000292.3(PHKA2):c.3628G>A (p.Gly1210Arg)	rs1601685360
NM_000292.3(PHKA2):c.3645_3646dup (p.Thr1216fs)	rs2147799052
NM_000292.3(PHKA2):c.3708G>C (p.Ter1236Tyr)	rs2047465246
NM_000292.3(PHKA2):c.395A>G (p.His132Arg)	rs137852291
NM_000292.3(PHKA2):c.44C>T (p.Ala15Val)
NM_000292.3(PHKA2):c.473C>T (p.Thr158Ile)	rs2147981456
NM_000292.3(PHKA2):c.488C>T (p.Ala163Val)
NM_000292.3(PHKA2):c.509T>C (p.Phe170Ser)
NM_000292.3(PHKA2):c.538G>A (p.Asp180Asn)
NM_000292.3(PHKA2):c.547A>G (p.Met183Val)
NM_000292.3(PHKA2):c.555G>C (p.Glu185Asp)	rs774250532
NM_000292.3(PHKA2):c.586G>A (p.Glu196Lys)
NM_000292.3(PHKA2):c.721A>C (p.Ile241Leu)
NM_000292.3(PHKA2):c.740C>G (p.Pro247Arg)	rs2147963178
NM_000292.3(PHKA2):c.749C>T (p.Ser250Leu)	rs2048489995
NM_000292.3(PHKA2):c.772G>A (p.Gly258Arg)	rs2147962993
NM_000292.3(PHKA2):c.7A>C (p.Ser3Arg)	rs2049222511
NM_000292.3(PHKA2):c.893G>C (p.Arg298Pro)	rs1359540820
NM_000292.3(PHKA2):c.898G>A (p.Gly300Ser)	rs2147958526
NM_000292.3(PHKA2):c.959T>C (p.Leu320Pro)
NM_000292.3(PHKA2):c.977G>A (p.Cys326Tyr)	rs1601758342

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