ClinVar Miner

List of variants in gene GLDC reported as uncertain significance for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 195
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HGVS dbSNP
NC_000009.11:g.(?_6620164)_(6645519_?)dup
NC_000009.12:g.(?_6532997)_(6540166_?)dup
NM_000170.2(GLDC):c.*115A>T rs148273307
NM_000170.2(GLDC):c.*188C>T rs577665662
NM_000170.2(GLDC):c.*235T>G rs749941145
NM_000170.2(GLDC):c.*505_*506del rs3215922
NM_000170.2(GLDC):c.*546C>T rs768890473
NM_000170.2(GLDC):c.*5C>G rs764814250
NM_000170.2(GLDC):c.-168G>A rs891076552
NM_000170.2(GLDC):c.-173T>G rs1039584725
NM_000170.2(GLDC):c.-21C>T rs1057515609
NM_000170.2(GLDC):c.1000T>C (p.Phe334Leu) rs149133229
NM_000170.2(GLDC):c.1010G>A (p.Arg337Gln) rs138129131
NM_000170.2(GLDC):c.1033C>A (p.Pro345Thr) rs373263202
NM_000170.2(GLDC):c.106G>C (p.Asp36His) rs573883784
NM_000170.2(GLDC):c.1084C>T (p.Arg362Cys) rs10975674
NM_000170.2(GLDC):c.110G>A (p.Ser37Asn) rs763471932
NM_000170.2(GLDC):c.1117C>T (p.Arg373Trp) rs150171524
NM_000170.2(GLDC):c.1156-7C>G rs150095531
NM_000170.2(GLDC):c.1183T>C (p.Phe395Leu) rs767200188
NM_000170.2(GLDC):c.1229G>A (p.Arg410Lys) rs144090917
NM_000170.2(GLDC):c.1264C>A (p.Leu422Ile) rs1554647026
NM_000170.2(GLDC):c.1319T>C (p.Ile440Thr) rs386833523
NM_000170.2(GLDC):c.1357G>T (p.Ala453Ser) rs1057515607
NM_000170.2(GLDC):c.1381C>T (p.Arg461Trp) rs761957837
NM_000170.2(GLDC):c.1424C>T (p.Thr475Ile) rs750883330
NM_000170.2(GLDC):c.142G>T (p.Gly48Trp) rs1057515608
NM_000170.2(GLDC):c.1433A>C (p.Glu478Ala) rs751588571
NM_000170.2(GLDC):c.1453T>C (p.Leu485=) rs760562478
NM_000170.2(GLDC):c.1483-15G>C rs371777070
NM_000170.2(GLDC):c.1483G>C (p.Glu495Gln) rs1554646734
NM_000170.2(GLDC):c.1484_1489del6 rs778109389
NM_000170.2(GLDC):c.150G>A (p.Ser50=) rs768354829
NM_000170.2(GLDC):c.1517G>C (p.Arg506Thr) rs754119942
NM_000170.2(GLDC):c.1525C>G (p.Pro509Ala) rs557412758
NM_000170.2(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000170.2(GLDC):c.1553C>A (p.Pro518Gln) rs761064507
NM_000170.2(GLDC):c.1553C>G (p.Pro518Arg)
NM_000170.2(GLDC):c.156_167del (p.Glu54_Leu57del) rs1554652793
NM_000170.2(GLDC):c.1570G>C (p.Val524Leu) rs751362463
NM_000170.2(GLDC):c.1580+5G>T rs764790596
NM_000170.2(GLDC):c.1580G>C (p.Ser527Thr) rs1247180998
NM_000170.2(GLDC):c.1606C>T (p.Arg536Trp) rs1286882965
NM_000170.2(GLDC):c.160_171del (p.Glu54_Leu57del) rs1554652791
NM_000170.2(GLDC):c.1626A>G (p.Glu542=) rs779537709
NM_000170.2(GLDC):c.1640C>G (p.Ser547Cys) rs1320151906
NM_000170.2(GLDC):c.1664T>G (p.Leu555Arg) rs765384489
NM_000170.2(GLDC):c.1665+7A>T rs759573888
NM_000170.2(GLDC):c.1676C>A (p.Thr559Asn) rs1554646634
NM_000170.2(GLDC):c.1679T>C (p.Met560Thr)
NM_000170.2(GLDC):c.1707+5G>C
NM_000170.2(GLDC):c.1722A>C (p.Lys574Asn) rs1554646530
NM_000170.2(GLDC):c.1738C>G (p.His580Asp) rs1164241828
NM_000170.2(GLDC):c.1762G>C (p.Ala588Pro)
NM_000170.2(GLDC):c.176G>A (p.Arg59Lys)
NM_000170.2(GLDC):c.1819G>A (p.Gly607Ser) rs1554646517
NM_000170.2(GLDC):c.181_183GAC[1] (p.Asp62del) rs1554652789
NM_000170.2(GLDC):c.1853G>A (p.Gly618Glu) rs1563839743
NM_000170.2(GLDC):c.190G>T (p.Ala64Ser) rs141601131
NM_000170.2(GLDC):c.1925C>T (p.Thr642Met)
NM_000170.2(GLDC):c.1926+3G>T rs1563839674
NM_000170.2(GLDC):c.1926+5G>A rs1554644678
NM_000170.2(GLDC):c.1926G>A (p.Thr642=)
NM_000170.2(GLDC):c.1927-4G>A rs576723612
NM_000170.2(GLDC):c.1931G>A (p.Cys644Tyr)
NM_000170.2(GLDC):c.1940C>T (p.Pro647Leu) rs201135624
NM_000170.2(GLDC):c.1970G>A (p.Ser657Asn) rs1301895668
NM_000170.2(GLDC):c.197_198delinsAA (p.Arg66Lys) rs1554652780
NM_000170.2(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000170.2(GLDC):c.2113G>A (p.Val705Met) rs147275962
NM_000170.2(GLDC):c.2124_2126dup (p.Asn709_Ile710insLys) rs1554643929
NM_000170.2(GLDC):c.2137G>A (p.Val713Met) rs912659426
NM_000170.2(GLDC):c.2147T>A (p.Leu716His) rs145018304
NM_000170.2(GLDC):c.2149A>G (p.Ile717Val) rs117460214
NM_000170.2(GLDC):c.2161G>A (p.Gly721Arg)
NM_000170.2(GLDC):c.2230G>A (p.Gly744Arg)
NM_000170.2(GLDC):c.2238T>A (p.Asp746Glu) rs749882600
NM_000170.2(GLDC):c.2240T>A (p.Val747Asp) rs1563835004
NM_000170.2(GLDC):c.2297G>T (p.Gly766Val) rs750384225
NM_000170.2(GLDC):c.2305C>A (p.Pro769Thr) rs751114163
NM_000170.2(GLDC):c.2310C>A (p.Ile770=) rs765661419
NM_000170.2(GLDC):c.2332C>G (p.Pro778Ala) rs1476838990
NM_000170.2(GLDC):c.2333C>G (p.Pro778Arg)
NM_000170.2(GLDC):c.2333C>T (p.Pro778Leu)
NM_000170.2(GLDC):c.234G>C (p.Met78Ile)
NM_000170.2(GLDC):c.2368C>T (p.Arg790Trp) rs386833556
NM_000170.2(GLDC):c.2383T>A (p.Cys795Ser) rs567167527
NM_000170.2(GLDC):c.2446G>A (p.Ala816Thr) rs775834004
NM_000170.2(GLDC):c.2458A>G (p.Met820Val) rs781682244
NM_000170.2(GLDC):c.245T>C (p.Leu82Ser) rs386833559
NM_000170.2(GLDC):c.2487C>T (p.Ala829=) rs141806715
NM_000170.2(GLDC):c.2518A>G (p.Met840Val) rs781693346
NM_000170.2(GLDC):c.2519T>A (p.Met840Lys) rs386833561
NM_000170.2(GLDC):c.2521G>C (p.Ala841Pro) rs386833562
NM_000170.2(GLDC):c.2537C>T (p.Thr846Ile) rs747336541
NM_000170.2(GLDC):c.2545A>G (p.Arg849Gly) rs778000679
NM_000170.2(GLDC):c.2564C>T (p.Ala855Val) rs764251972
NM_000170.2(GLDC):c.2570G>A (p.Gly857Asp)
NM_000170.2(GLDC):c.2578G>C (p.Gly860Arg) rs753759723
NM_000170.2(GLDC):c.2593T>A (p.Leu865Met)
NM_000170.2(GLDC):c.2612A>G (p.Lys871Arg)
NM_000170.2(GLDC):c.262G>A (p.Asp88Asn) rs770826242
NM_000170.2(GLDC):c.2631_2639del (p.Glu877_Val879del) rs1554642294
NM_000170.2(GLDC):c.2650A>G (p.Arg884Gly) rs1057515606
NM_000170.2(GLDC):c.2684T>C (p.Met895Thr) rs769606225
NM_000170.2(GLDC):c.270G>C (p.Leu90Phe) rs747736821
NM_000170.2(GLDC):c.2729C>T (p.Ser910Leu) rs759933539
NM_000170.2(GLDC):c.2730G>A (p.Ser910=) rs144937031
NM_000170.2(GLDC):c.2798T>A (p.Ile933Asn) rs758029533
NM_000170.2(GLDC):c.2798T>C (p.Ile933Thr) rs758029533
NM_000170.2(GLDC):c.2818C>T (p.Pro940Ser)
NM_000170.2(GLDC):c.2841G>A (p.Met947Ile) rs1214310966
NM_000170.2(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391
NM_000170.2(GLDC):c.2919C>T (p.Leu973=) rs113736090
NM_000170.2(GLDC):c.2926G>A (p.Val976Met)
NM_000170.2(GLDC):c.2936A>C (p.Glu979Ala) rs550514750
NM_000170.2(GLDC):c.2938A>G (p.Asn980Asp) rs772574530
NM_000170.2(GLDC):c.2947T>C (p.Trp983Arg) rs1057515605
NM_000170.2(GLDC):c.2948G>A (p.Trp983Ter) rs1554641519
NM_000170.2(GLDC):c.2955G>A (p.Thr985=) rs142004524
NM_000170.2(GLDC):c.2962C>T (p.Arg988Trp) rs1288008254
NM_000170.2(GLDC):c.2963G>A (p.Arg988Gln) rs749512886
NM_000170.2(GLDC):c.2964G>A (p.Arg988=) rs146045718
NM_000170.2(GLDC):c.2983G>A (p.Asp995Asn) rs1554641505
NM_000170.2(GLDC):c.2983G>T (p.Asp995Tyr)
NM_000170.2(GLDC):c.2986C>T (p.Gln996Ter) rs1296191006
NM_000170.2(GLDC):c.2988G>C (p.Gln996His) rs138640017
NM_000170.2(GLDC):c.2991C>A (p.His997Gln) rs757398632
NM_000170.2(GLDC):c.3040G>T (p.Glu1014Ter) rs1444245039
NM_000170.2(GLDC):c.329C>A (p.Pro110His) rs371491621
NM_000170.2(GLDC):c.422G>A (p.Cys141Tyr) rs1563864774
NM_000170.2(GLDC):c.439_441dup (p.Ile147dup) rs1157234920
NM_000170.2(GLDC):c.498T>C (p.Pro166=) rs150193069
NM_000170.2(GLDC):c.4C>A (p.Gln2Lys)
NM_000170.2(GLDC):c.544A>G (p.Met182Val) rs541691467
NM_000170.2(GLDC):c.578A>G (p.Asn193Ser) rs555919940
NM_000170.2(GLDC):c.589C>G (p.Leu197Val) rs1461615694
NM_000170.2(GLDC):c.637C>A (p.His213Asn) rs1210682949
NM_000170.2(GLDC):c.639_641CAA[1] (p.Asn214del) rs1222749984
NM_000170.2(GLDC):c.63C>A (p.Arg21=) rs372141443
NM_000170.2(GLDC):c.646A>G (p.Arg216Gly) rs140411475
NM_000170.2(GLDC):c.698T>C (p.Val233Ala) rs140013612
NM_000170.2(GLDC):c.701A>G (p.Gln234Arg) rs776639131
NM_000170.2(GLDC):c.71G>A (p.Gly24Glu) rs967983950
NM_000170.2(GLDC):c.790T>C (p.Phe264Leu)
NM_000170.2(GLDC):c.799C>G (p.Pro267Ala) rs1554648117
NM_000170.2(GLDC):c.800C>T (p.Pro267Leu) rs138484426
NM_000170.2(GLDC):c.811G>A (p.Gly271Arg) rs1554648113
NM_000170.2(GLDC):c.851A>C (p.His284Pro) rs1210767970
NM_000170.2(GLDC):c.861+5G>C rs192663616
NM_000170.2(GLDC):c.862-10T>A rs1264036061
NM_000170.2(GLDC):c.886C>T (p.Leu296Phe) rs200413149
NM_000170.2(GLDC):c.913C>A (p.Pro305Thr) rs370964168
NM_000170.3(GLDC):c.*345G>T
NM_000170.3(GLDC):c.*378G>T
NM_000170.3(GLDC):c.*410G>A
NM_000170.3(GLDC):c.*496T>G
NM_000170.3(GLDC):c.1041A>C (p.Arg347Ser)
NM_000170.3(GLDC):c.1075G>A (p.Glu359Lys)
NM_000170.3(GLDC):c.1261+3G>A
NM_000170.3(GLDC):c.1402-14T>G
NM_000170.3(GLDC):c.1430A>G (p.Asn477Ser)
NM_000170.3(GLDC):c.1530G>A (p.Gly510=)
NM_000170.3(GLDC):c.1554G>C (p.Pro518=)
NM_000170.3(GLDC):c.1817C>T (p.Thr606Ile)
NM_000170.3(GLDC):c.1830G>A (p.Gln610=)
NM_000170.3(GLDC):c.183C>G (p.Asp61Glu)
NM_000170.3(GLDC):c.1926+6T>C
NM_000170.3(GLDC):c.2028C>T (p.Ile676=)
NM_000170.3(GLDC):c.2060A>T (p.Lys687Met)
NM_000170.3(GLDC):c.209C>A (p.Pro70His)
NM_000170.3(GLDC):c.20C>T (p.Ala7Val)
NM_000170.3(GLDC):c.2145C>T (p.Asp715=)
NM_000170.3(GLDC):c.2148C>T (p.Leu716=)
NM_000170.3(GLDC):c.2166A>G (p.Gly722=)
NM_000170.3(GLDC):c.2202+6A>G
NM_000170.3(GLDC):c.2328C>T (p.Leu776=)
NM_000170.3(GLDC):c.2335T>C (p.Phe779Leu)
NM_000170.3(GLDC):c.2402G>A (p.Ser801Asn)
NM_000170.3(GLDC):c.2561G>A (p.Gly854Asp)
NM_000170.3(GLDC):c.2570-10T>C
NM_000170.3(GLDC):c.2697G>A (p.Val899=)
NM_000170.3(GLDC):c.2742A>T (p.Ala914=)
NM_000170.3(GLDC):c.2874C>T (p.Ser958=)
NM_000170.3(GLDC):c.2901G>C (p.Glu967Asp)
NM_000170.3(GLDC):c.2925C>T (p.Phe975=)
NM_000170.3(GLDC):c.2991C>G (p.His997Gln)
NM_000170.3(GLDC):c.700C>G (p.Gln234Glu)
NM_000170.3(GLDC):c.78G>C (p.Ser26=)
NM_000170.3(GLDC):c.861+11C>G
NM_000170.3(GLDC):c.861+5G>A
NM_000170.3(GLDC):c.886C>A (p.Leu296Ile)
NM_000170.3(GLDC):c.94C>T (p.Pro32Ser)
NM_000170.3(GLDC):c.961G>C (p.Gly321Arg)
NM_000170.3(GLDC):c.96G>T (p.Pro32=)

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