ClinVar Miner

List of variants in gene GLDC reported as pathogenic

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Gene type:
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Total variants: 104
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HGVS dbSNP
GLDC, 2607C-A
GLDC, 30-KB DEL
GRCh37/hg19 9p24.1(chr9:6523010-6708344)x1
GRCh37/hg19 9p24.1(chr9:6542329-6611763)x1
GRCh37/hg19 9p24.1(chr9:6548392-6620059)x1
GRCh37/hg19 9p24.1(chr9:6556947-6679992)x1
GRCh37/hg19 9p24.1(chr9:6611112-6677371)x1
GRCh37/hg19 9p24.1(chr9:6631701-6679992)x1
NC_000009.11:g.(?_6565334)_(6565449_?)dup
NC_000009.12:g.(?_6533007)_(6610366_?)del
NC_000009.12:g.(?_6558539)_(6565449_?)del
NC_000009.12:g.(?_6558539)_(6645519_?)del
NC_000009.12:g.(?_6558549)_(6645509_?)del
NC_000009.12:g.(?_6587121)_(6606689_?)del
NC_000009.12:g.(?_6587121)_(6645519_?)del
NC_000009.12:g.(?_6587131)_(6606679_?)del
NC_000009.12:g.(?_6592841)_(6620329_?)del
NC_000009.12:g.(?_6594994)_(6620339_?)del
NC_000009.12:g.(?_6595004)_(6620329_?)del
NC_000009.12:g.(?_6604568)_(6645519_?)del
NC_000009.12:g.(?_6606572)_(6606689_?)del
NC_000009.12:g.(?_6606582)_(6606679_?)del
NC_000009.12:g.(?_6610172)_(6645519_?)del
NC_000009.12:g.(?_6620164)_(6620339_?)del
NC_000009.12:g.(?_6620174)_(6620329_?)del
NC_000009.12:g.(?_6620174)_(6645509_?)del
NC_000009.12:g.(?_6644594)_(6645519_?)del
NC_000009.12:g.(?_6644604)_(6645509_?)del
NM_000170.2(GLDC):c.1009C>T (p.Arg337Ter) rs386833517
NM_000170.2(GLDC):c.1054del (p.Thr352fs) rs386833518
NM_000170.2(GLDC):c.1058+2T>A rs1587959976
NM_000170.2(GLDC):c.1117C>T (p.Arg373Trp) rs150171524
NM_000170.2(GLDC):c.1145G>A (p.Cys382Tyr) rs759133707
NM_000170.2(GLDC):c.1166C>T (p.Ala389Val) rs121964979
NM_000170.2(GLDC):c.1270C>T (p.Arg424Ter) rs386833521
NM_000170.2(GLDC):c.128del (p.Asp43fs) rs1251443902
NM_000170.2(GLDC):c.1337del (p.Val446fs) rs1587951033
NM_000170.2(GLDC):c.1382G>A (p.Arg461Gln) rs386833524
NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.2(GLDC):c.1580+2T>G rs1554646710
NM_000170.2(GLDC):c.1580G>C (p.Ser527Thr) rs1247180998
NM_000170.2(GLDC):c.1652G>T (p.Ser551Ile) rs751822565
NM_000170.2(GLDC):c.1654A>G (p.Met552Val) rs386833529
NM_000170.2(GLDC):c.1691G>T (p.Ser564Ile) rs121964974
NM_000170.2(GLDC):c.1723G>T (p.Glu575Ter) rs1554646529
NM_000170.2(GLDC):c.1786C>T (p.Arg596Ter) rs386833531
NM_000170.2(GLDC):c.1866_1867AT[3] (p.Ala624fs) rs772068893
NM_000170.2(GLDC):c.1888C>T (p.Arg630Ter) rs751025203
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.2177T>A (p.Leu726Gln) rs1114167353
NM_000170.2(GLDC):c.2186del (p.Ala729fs) rs386833543
NM_000170.2(GLDC):c.2203-2A>G rs386833545
NM_000170.2(GLDC):c.2216G>A (p.Arg739His) rs121964980
NM_000170.2(GLDC):c.2267_2269del (p.Phe756del) rs121964975
NM_000170.2(GLDC):c.2278dup (p.His760fs) rs1563834980
NM_000170.2(GLDC):c.2281G>A (p.Gly761Arg) rs386833549
NM_000170.2(GLDC):c.2281G>C (p.Gly761Arg) rs386833549
NM_000170.2(GLDC):c.2284G>A (p.Gly762Arg) rs386833550
NM_000170.2(GLDC):c.2311G>A (p.Gly771Arg) rs386833553
NM_000170.2(GLDC):c.2316-1G>A rs386833554
NM_000170.2(GLDC):c.2368C>T (p.Arg790Trp) rs386833556
NM_000170.2(GLDC):c.2405C>T (p.Ala802Val) rs121964977
NM_000170.2(GLDC):c.2423_2426dup (p.Ile810fs) rs755313904
NM_000170.2(GLDC):c.2455A>G (p.Lys819Glu) rs1587922096
NM_000170.2(GLDC):c.2489C>T (p.Thr830Met) rs386833560
NM_000170.2(GLDC):c.24G>A (p.Trp8Ter) rs1163356968
NM_000170.2(GLDC):c.2527C>T (p.Arg843Ter) rs1554643360
NM_000170.2(GLDC):c.2544C>G (p.Tyr848Ter) rs1554643354
NM_000170.2(GLDC):c.2584G>A (p.Glu862Lys) rs925908885
NM_000170.2(GLDC):c.2607C>A (p.Pro869=) rs386833565
NM_000170.2(GLDC):c.2614A>T (p.Lys872Ter) rs1430968530
NM_000170.2(GLDC):c.2665+1G>C rs149070244
NM_000170.2(GLDC):c.2714T>G (p.Val905Gly) rs188269735
NM_000170.2(GLDC):c.2798T>C (p.Ile933Thr) rs758029533
NM_000170.2(GLDC):c.2838+2T>C rs1554641887
NM_000170.2(GLDC):c.2919+1G>A rs386833575
NM_000170.2(GLDC):c.2919+1G>C rs386833575
NM_000170.2(GLDC):c.2962C>T (p.Arg988Trp) rs1288008254
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg) rs1406713104
NM_000170.2(GLDC):c.2T>C (p.Met1Thr) rs121964978
NM_000170.2(GLDC):c.334+1G>T rs978795483
NM_000170.2(GLDC):c.411_412insAATA (p.Tyr138fs) rs1563864784
NM_000170.2(GLDC):c.499G>T (p.Glu167Ter) rs191905539
NM_000170.2(GLDC):c.538C>T (p.Gln180Ter) rs762989914
NM_000170.2(GLDC):c.793del (p.Gln265fs) rs386833586
NM_000170.2(GLDC):c.806C>T (p.Thr269Met) rs386833587
NM_000170.3(GLDC):c.1059-1G>T rs1587958061
NM_000170.3(GLDC):c.1629del (p.Asn543fs) rs1345599468
NM_000170.3(GLDC):c.1636del (p.Ile546fs)
NM_000170.3(GLDC):c.1765C>T (p.Gln589Ter)
NM_000170.3(GLDC):c.1828C>T (p.Gln610Ter)
NM_000170.3(GLDC):c.1862del (p.Gly621fs)
NM_000170.3(GLDC):c.2052+1G>A rs765906340
NM_000170.3(GLDC):c.2225_2232del (p.Asp742fs)
NM_000170.3(GLDC):c.2315+1G>T
NM_000170.3(GLDC):c.2531T>G (p.Leu844Ter)
NM_000170.3(GLDC):c.2755T>A (p.Phe919Ile)
NM_000170.3(GLDC):c.2838+1G>A rs542056100
NM_000170.3(GLDC):c.2879G>A (p.Trp960Ter)
NM_000170.3(GLDC):c.395C>T (p.Ser132Leu)
NM_000170.3(GLDC):c.492C>G (p.Tyr164Ter)
NM_000170.3(GLDC):c.89G>A (p.Trp30Ter)
NM_000170.3(GLDC):c.969_970dup (p.Leu324fs)

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