ClinVar Miner

List of variants in gene GLDC reported as likely benign 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: 102
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HGVS dbSNP
NM_000170.2(GLDC):c.*257G>A rs111326356
NM_000170.2(GLDC):c.*557C>G rs73639311
NM_000170.2(GLDC):c.-186del rs140030144
NM_000170.2(GLDC):c.1156-7C>G rs150095531
NM_000170.2(GLDC):c.1229G>A (p.Arg410Lys) rs144090917
NM_000170.2(GLDC):c.1278G>A (p.Gly426=) rs1554647023
NM_000170.2(GLDC):c.1331G>A (p.Cys444Tyr) rs142099123
NM_000170.2(GLDC):c.1453T>C (p.Leu485=) rs760562478
NM_000170.2(GLDC):c.1483-6C>T rs1442788186
NM_000170.2(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000170.2(GLDC):c.1581-5C>T rs184463452
NM_000170.2(GLDC):c.1618A>C (p.Lys540Gln) rs140516872
NM_000170.2(GLDC):c.1665+7A>T rs759573888
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.1707+8G>A rs144666843
NM_000170.2(GLDC):c.1752T>C (p.Pro584=) rs150647379
NM_000170.2(GLDC):c.190G>T (p.Ala64Ser) rs141601131
NM_000170.2(GLDC):c.1927-4G>A rs576723612
NM_000170.2(GLDC):c.1927-9A>G rs41281773
NM_000170.2(GLDC):c.1932C>T (p.Cys644=) rs111348076
NM_000170.2(GLDC):c.2024A>C (p.Asn675Thr)
NM_000170.2(GLDC):c.2053-5C>G rs140877566
NM_000170.2(GLDC):c.2126A>G (p.Asn709Ser) rs150943866
NM_000170.2(GLDC):c.2203G>T (p.Val735Leu) rs143119940
NM_000170.2(GLDC):c.2244G>A (p.Ser748=) rs372693840
NM_000170.2(GLDC):c.2283A>G (p.Gly761=) rs1554643744
NM_000170.2(GLDC):c.2304G>A (p.Gly768=) rs533775952
NM_000170.2(GLDC):c.2316-13dup rs3215923
NM_000170.2(GLDC):c.2352C>T (p.Pro784=) rs367781728
NM_000170.2(GLDC):c.2409C>T (p.Ala803=) rs1554643608
NM_000170.2(GLDC):c.2487C>T (p.Ala829=) rs141806715
NM_000170.2(GLDC):c.2490G>T (p.Thr830=) rs145407593
NM_000170.2(GLDC):c.2665+10T>C rs774684209
NM_000170.2(GLDC):c.2683A>G (p.Met895Val) rs141152043
NM_000170.2(GLDC):c.2748G>A (p.Leu916=) rs139982267
NM_000170.2(GLDC):c.2832G>A (p.Pro944=) rs764242927
NM_000170.2(GLDC):c.2964G>A (p.Arg988=) rs146045718
NM_000170.2(GLDC):c.2964G>C (p.Arg988=) rs146045718
NM_000170.2(GLDC):c.327C>T (p.Asp109=) rs1181706015
NM_000170.2(GLDC):c.40C>A (p.Arg14Ser) rs182760732
NM_000170.2(GLDC):c.52G>T (p.Gly18Cys) rs535143891
NM_000170.2(GLDC):c.619C>G (p.Leu207Val) rs142181803
NM_000170.2(GLDC):c.642C>T (p.Asn214=) rs775546889
NM_000170.2(GLDC):c.671G>A (p.Arg224His) rs28617412
NM_000170.2(GLDC):c.678C>T (p.His226=) rs12006003
NM_000170.3(GLDC):c.*229C>G
NM_000170.3(GLDC):c.*236G>T
NM_000170.3(GLDC):c.103C>A (p.Arg35=)
NM_000170.3(GLDC):c.1080G>T (p.Val360=)
NM_000170.3(GLDC):c.1149A>G (p.Thr383=)
NM_000170.3(GLDC):c.114C>T (p.Ser38=)
NM_000170.3(GLDC):c.1155+9C>G
NM_000170.3(GLDC):c.1161C>A (p.Leu387=)
NM_000170.3(GLDC):c.1167G>C (p.Ala389=)
NM_000170.3(GLDC):c.1210C>T (p.Leu404=)
NM_000170.3(GLDC):c.1242C>T (p.Ala414=)
NM_000170.3(GLDC):c.1262-4G>A
NM_000170.3(GLDC):c.1332C>T (p.Cys444=)
NM_000170.3(GLDC):c.1359C>T (p.Ala453=)
NM_000170.3(GLDC):c.1401+9A>G
NM_000170.3(GLDC):c.147C>T (p.Ala49=)
NM_000170.3(GLDC):c.1554G>A (p.Pro518=)
NM_000170.3(GLDC):c.1554G>C (p.Pro518=)
NM_000170.3(GLDC):c.1791G>C (p.Glu597Asp)
NM_000170.3(GLDC):c.1851-9C>G
NM_000170.3(GLDC):c.1851C>T (p.Ser617=)
NM_000170.3(GLDC):c.1893C>T (p.Ala631=)
NM_000170.3(GLDC):c.190G>A (p.Ala64Thr)
NM_000170.3(GLDC):c.1926+6T>C
NM_000170.3(GLDC):c.1941G>A (p.Pro647=)
NM_000170.3(GLDC):c.1953T>C (p.His651=)
NM_000170.3(GLDC):c.1974C>A (p.Ala658=)
NM_000170.3(GLDC):c.2097C>T (p.Tyr699=)
NM_000170.3(GLDC):c.2160T>C (p.His720=)
NM_000170.3(GLDC):c.2175C>T (p.Tyr725=)
NM_000170.3(GLDC):c.2202+8C>A
NM_000170.3(GLDC):c.2229C>T (p.Phe743=)
NM_000170.3(GLDC):c.2271C>T (p.Cys757=)
NM_000170.3(GLDC):c.2307C>T (p.Pro769=)
NM_000170.3(GLDC):c.2328C>T (p.Leu776=)
NM_000170.3(GLDC):c.2352C>G (p.Pro784=)
NM_000170.3(GLDC):c.2406G>A (p.Ala802=)
NM_000170.3(GLDC):c.255+8C>T
NM_000170.3(GLDC):c.2565A>C (p.Ala855=)
NM_000170.3(GLDC):c.258C>T (p.Ser86=)
NM_000170.3(GLDC):c.2601G>A (p.Thr867=)
NM_000170.3(GLDC):c.261T>C (p.Ile87=)
NM_000170.3(GLDC):c.2703G>C (p.Gly901=)
NM_000170.3(GLDC):c.2821A>C (p.Arg941=)
NM_000170.3(GLDC):c.2838+10C>T
NM_000170.3(GLDC):c.2863G>A (p.Val955Ile)
NM_000170.3(GLDC):c.2874C>T (p.Ser958=)
NM_000170.3(GLDC):c.3002C>A (p.Thr1001Asn)
NM_000170.3(GLDC):c.489A>G (p.Pro163=)
NM_000170.3(GLDC):c.576C>G (p.Ala192=)
NM_000170.3(GLDC):c.609C>T (p.Ala203=)
NM_000170.3(GLDC):c.78G>C (p.Ser26=)
NM_000170.3(GLDC):c.81G>A (p.Gly27=)
NM_000170.3(GLDC):c.831G>A (p.Thr277=)
NM_000170.3(GLDC):c.84G>T (p.Pro28=)
NM_000170.3(GLDC):c.96G>T (p.Pro32=)
NM_000170.3(GLDC):c.972G>A (p.Leu324=)

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