List of variants in gene AGL reported as pathogenic for carbohydrate metabolism disease

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: 167

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HGVS	dbSNP
AGL, EcoRI FRAGMENT INS
NC_000001.10:g.(?_100340233)_(100343394_?)del
NC_000001.10:g.(?_100366308)_(100367832_?)del
NC_000001.10:g.(?_100366308_100367832del
NC_000001.11:g.(?_99862247)_(99862433_?)del
NC_000001.11:g.(?_99892422)_(99892617_?)del
NC_000001.11:g.(?_99902663)_(99902814_?)del
NC_000001.11:g.(?_99910692)_(99910867_?)del
NC_000001.11:g.(?_99910692)_(99913758_?)del
NM_000642.2(AGL):c.[1283G>A];[611T>A]
NM_000642.3(AGL):c.100C>T (p.Arg34Ter)	rs781580050
NM_000642.3(AGL):c.1020del (p.Glu340fs)
NM_000642.3(AGL):c.1041dup (p.Val348fs)
NM_000642.3(AGL):c.104T>G (p.Leu35Ter)	rs1057516567
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)	rs763554006
NM_000642.3(AGL):c.1083-2A>G	rs1570433472
NM_000642.3(AGL):c.1102del (p.Glu368fs)	rs1553185403
NM_000642.3(AGL):c.1180G>T (p.Glu394Ter)	rs1570433686
NM_000642.3(AGL):c.118C>T (p.Gln40Ter)	rs771961377
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter)	rs113994128
NM_000642.3(AGL):c.1230_1233del (p.Gly411fs)	rs1553185474
NM_000642.3(AGL):c.1375_1378del (p.Asn459fs)
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer)	rs786204678
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter)	rs766536350
NM_000642.3(AGL):c.1423+1G>C
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter)	rs140095668
NM_000642.3(AGL):c.1497_1500dup (p.Asp501fs)
NM_000642.3(AGL):c.1505_1514del (p.Cys502fs)
NM_000642.3(AGL):c.1533dup (p.Tyr512fs)	rs776733170
NM_000642.3(AGL):c.1537_1538del (p.Tyr512_Thr513insTer)
NM_000642.3(AGL):c.1565del (p.Gly522fs)	rs1570438459
NM_000642.3(AGL):c.1571G>A (p.Arg524His)
NM_000642.3(AGL):c.1589C>G (p.Ser530Ter)	rs1553185905
NM_000642.3(AGL):c.158del (p.Pro53fs)
NM_000642.3(AGL):c.1614C>G (p.Tyr538Ter)	rs1188310172
NM_000642.3(AGL):c.1639C>T (p.Gln547Ter)
NM_000642.3(AGL):c.1688delinsGA (p.Leu563fs)
NM_000642.3(AGL):c.1692del (p.Asp564fs)
NM_000642.3(AGL):c.16C>T (p.Gln6Ter)	rs113994126
NM_000642.3(AGL):c.1717dup (p.Ile573fs)
NM_000642.3(AGL):c.1735+1G>T	rs199922945
NM_000642.3(AGL):c.1735+1_1735+15del
NM_000642.3(AGL):c.1783C>T (p.Arg595Ter)	rs765367405
NM_000642.3(AGL):c.1788T>G (p.Tyr596Ter)
NM_000642.3(AGL):c.18_19del (p.Gln6fs)	rs113994127
NM_000642.3(AGL):c.1900-2A>G
NM_000642.3(AGL):c.1942dup (p.Ser648fs)
NM_000642.3(AGL):c.2001+5G>A	rs1553186489
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs)
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)	rs113994129
NM_000642.3(AGL):c.2083C>T (p.Gln695Ter)	rs1570445130
NM_000642.3(AGL):c.2144del (p.Lys715fs)
NM_000642.3(AGL):c.214_215del (p.Glu72fs)
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter)
NM_000642.3(AGL):c.22C>T (p.Arg8Ter)	rs1057516870
NM_000642.3(AGL):c.22del (p.Arg8fs)	rs1215043175
NM_000642.3(AGL):c.2309-1G>A	rs786204481
NM_000642.3(AGL):c.2346del (p.Ile782fs)
NM_000642.3(AGL):c.2384C>A (p.Ser795Ter)	rs1206517501
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs)	rs1553187237
NM_000642.3(AGL):c.2497C>T (p.Gln833Ter)
NM_000642.3(AGL):c.24_25del (p.Ile9fs)
NM_000642.3(AGL):c.251dup (p.Asn84fs)	rs756175624
NM_000642.3(AGL):c.256C>T (p.Gln86Ter)	rs193186112
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter)	rs113994130
NM_000642.3(AGL):c.2670del (p.Pro891fs)	rs764591009
NM_000642.3(AGL):c.2681+1G>A	rs201201443
NM_000642.3(AGL):c.2681+1G>T	rs201201443
NM_000642.3(AGL):c.2717_2721del (p.Gln906fs)	rs1553187957
NM_000642.3(AGL):c.2727C>G (p.Tyr909Ter)	rs1239498701
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter)	rs773095419
NM_000642.3(AGL):c.276del (p.Gln92fs)	rs1057517243
NM_000642.3(AGL):c.2793del (p.Lys932fs)
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter)
NM_000642.3(AGL):c.2823dup (p.Val942fs)
NM_000642.3(AGL):c.289C>T (p.Gln97Ter)	rs1553183220
NM_000642.3(AGL):c.2905dup (p.Tyr969fs)
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)	rs531425980
NM_000642.3(AGL):c.2950-2A>G	rs770438130
NM_000642.3(AGL):c.2960G>A (p.Trp987Ter)
NM_000642.3(AGL):c.2963del (p.Leu988fs)
NM_000642.3(AGL):c.2996del (p.Pro999fs)
NM_000642.3(AGL):c.3011del (p.Pro1004fs)	rs1057516306
NM_000642.3(AGL):c.3014del (p.Cys1005fs)
NM_000642.3(AGL):c.3179C>G (p.Ser1060Ter)	rs774926455
NM_000642.3(AGL):c.3204_3205del (p.Tyr1068_Arg1069delinsTer)	rs1553188832
NM_000642.3(AGL):c.3214G>T (p.Glu1072Ter)
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs)	rs771069887
NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter)	rs1553188849
NM_000642.3(AGL):c.328del (p.Asp110fs)
NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter)	rs786204490
NM_000642.3(AGL):c.3362+1G>A	rs1553189468
NM_000642.3(AGL):c.3439A>G (p.Arg1147Gly)	rs267606639
NM_000642.3(AGL):c.3441del (p.Arg1147fs)
NM_000642.3(AGL):c.3444C>A (p.Tyr1148Ter)	rs776977863
NM_000642.3(AGL):c.3465G>A (p.Trp1155Ter)
NM_000642.3(AGL):c.3481_3589-405del
NM_000642.3(AGL):c.3481_3589-407del
NM_000642.3(AGL):c.348_373del (p.Ala117fs)	rs1057516308
NM_000642.3(AGL):c.3492C>G (p.Tyr1164Ter)	rs370202718
NM_000642.3(AGL):c.3554del (p.Thr1185fs)	rs764318570
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter)	rs775498547
NM_000642.3(AGL):c.3637C>T (p.Gln1213Ter)	rs1570487381
NM_000642.3(AGL):c.3652C>T (p.Arg1218Ter)	rs771853367
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter)	rs113994131
NM_000642.3(AGL):c.3747dup (p.Gly1250fs)
NM_000642.3(AGL):c.3756dup (p.Arg1253fs)
NM_000642.3(AGL):c.378T>A (p.Cys126Ter)	rs1553183359
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs)	rs867341758
NM_000642.3(AGL):c.3836+1G>A	rs780883601
NM_000642.3(AGL):c.3837-1G>A	rs1570508240
NM_000642.3(AGL):c.3911dup (p.Asn1304fs)	rs745757264
NM_000642.3(AGL):c.3928G>T (p.Glu1310Ter)
NM_000642.3(AGL):c.3965del (p.Val1322fs)	rs113994132
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)	rs267606640
NM_000642.3(AGL):c.4027G>T (p.Glu1343Ter)
NM_000642.3(AGL):c.4043T>G (p.Leu1348Ter)
NM_000642.3(AGL):c.4087A>T (p.Lys1363Ter)
NM_000642.3(AGL):c.4100del (p.Gly1367fs)
NM_000642.3(AGL):c.4115G>A (p.Trp1372Ter)
NM_000642.3(AGL):c.4126C>T (p.Gln1376Ter)
NM_000642.3(AGL):c.4165_4166del (p.Ala1388_Pro1389insTer)	rs1293077915
NM_000642.3(AGL):c.4193G>A (p.Trp1398Ter)
NM_000642.3(AGL):c.4197del (p.Ala1400fs)	rs786204595
NM_000642.3(AGL):c.4220_4221del (p.Lys1407fs)
NM_000642.3(AGL):c.4221del (p.Lys1407fs)	rs786204655
NM_000642.3(AGL):c.4221dup (p.Leu1408fs)	rs786204655
NM_000642.3(AGL):c.4258_4259insGGAGATTCCTTAAAGAACTAAAAGTAGGCTCNNNNNAAAAAGAAAACTTTAGATCCAG (p.Asp1420fs)
NM_000642.3(AGL):c.4260-12A>G	rs369973784
NM_000642.3(AGL):c.4270dup (p.Tyr1424fs)
NM_000642.3(AGL):c.4342G>C (p.Gly1448Arg)	rs118203964
NM_000642.3(AGL):c.4347+1G>A	rs1553193463
NM_000642.3(AGL):c.4347+1G>C
NM_000642.3(AGL):c.4352G>A (p.Trp1451Ter)
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys)	rs775685508
NM_000642.3(AGL):c.4371T>G (p.Tyr1457Ter)
NM_000642.3(AGL):c.4385_4389dup (p.Tyr1464fs)	rs1557794150
NM_000642.3(AGL):c.4422del (p.Ala1475fs)
NM_000642.3(AGL):c.4456del (p.Ser1486fs)	rs113994134
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)	rs12118058
NM_000642.3(AGL):c.4525C>T (p.Gln1509Ter)	rs1480850606
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)	rs387906244
NM_000642.3(AGL):c.500dup (p.Leu168fs)	rs1443902661
NM_000642.3(AGL):c.525del (p.Ala176fs)	rs1571232214
NM_000642.3(AGL):c.576T>G (p.Tyr192Ter)	rs1571232325
NM_000642.3(AGL):c.582del (p.Thr193_Trp194insTer)
NM_000642.3(AGL):c.595C>T (p.Gln199Ter)
NM_000642.3(AGL):c.609del (p.Lys203fs)	rs1571232404
NM_000642.3(AGL):c.634del (p.Cys212fs)
NM_000642.3(AGL):c.64del (p.Leu22fs)	rs1057517057
NM_000642.3(AGL):c.664+3A>G	rs370792293
NM_000642.3(AGL):c.671del (p.Asn224fs)
NM_000642.3(AGL):c.685C>T (p.Gln229Ter)
NM_000642.3(AGL):c.716dup (p.Asn240fs)
NM_000642.3(AGL):c.753_756del (p.Asp251fs)	rs748789700
NM_000642.3(AGL):c.853C>T (p.Arg285Ter)	rs755747010
NM_000642.3(AGL):c.854del (p.Arg285fs)	rs1553184620
NM_000642.3(AGL):c.861_864del (p.Ile288fs)	rs1571243699
NM_000642.3(AGL):c.907C>T (p.Gln303Ter)
NM_000642.3(AGL):c.939del (p.Phe313fs)	rs760589837
NM_000642.3(AGL):c.947_948del (p.Leu316fs)
NM_000642.3(AGL):c.94C>T (p.Gln32Ter)	rs786204489
NM_000642.3(AGL):c.955C>T (p.Gln319Ter)
NM_000642.3(AGL):c.958+1G>A	rs1553184657
NM_000642.3(AGL):c.958+1G>T
NM_000642.3(AGL):c.966dup (p.Arg323fs)
NM_000642.3(AGL):c.967C>T (p.Arg323Ter)	rs757987101

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