ClinVar Miner

Variants in gene GLDC with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
611 65 15 64 43 0 20 121

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 2 42 10 0 0
likely pathogenic 42 13 11 1 1
uncertain significance 10 11 0 36 13
likely benign 0 1 36 0 22
benign 0 1 13 22 0

All variants with conflicting interpretations #

Total variants: 121
Download table as spreadsheet
HGVS dbSNP
NM_000170.2(GLDC):c.1009C>T (p.Arg337Ter) rs386833517
NM_000170.2(GLDC):c.1033C>A (p.Pro345Thr) rs373263202
NM_000170.2(GLDC):c.1054del (p.Thr352fs) rs386833518
NM_000170.2(GLDC):c.1117C>T (p.Arg373Trp) rs150171524
NM_000170.2(GLDC):c.1156-7C>G rs150095531
NM_000170.2(GLDC):c.1229G>A (p.Arg410Lys) rs144090917
NM_000170.2(GLDC):c.1270C>T (p.Arg424Ter) rs386833521
NM_000170.2(GLDC):c.128del (p.Asp43fs) rs1251443902
NM_000170.2(GLDC):c.1382G>A (p.Arg461Gln) rs386833524
NM_000170.2(GLDC):c.1444dup (p.Asp482fs) rs386833526
NM_000170.2(GLDC):c.1453T>C (p.Leu485=) rs760562478
NM_000170.2(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.2(GLDC):c.1581-5C>T rs184463452
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.1665+7A>T rs759573888
NM_000170.2(GLDC):c.1691G>T (p.Ser564Ile) rs121964974
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.1707+8G>A rs144666843
NM_000170.2(GLDC):c.1738C>G (p.His580Asp) rs1164241828
NM_000170.2(GLDC):c.1742C>G (p.Pro581Arg) rs772871471
NM_000170.2(GLDC):c.176G>C (p.Arg59Thr) rs386833530
NM_000170.2(GLDC):c.1786C>T (p.Arg596Ter) rs386833531
NM_000170.2(GLDC):c.190G>T (p.Ala64Ser) rs141601131
NM_000170.2(GLDC):c.1926+5G>A rs1554644678
NM_000170.2(GLDC):c.1927-4G>A rs576723612
NM_000170.2(GLDC):c.1927-9A>G rs41281773
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.2024A>C (p.Asn675Thr) rs749513146
NM_000170.2(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000170.2(GLDC):c.2053-5C>G rs140877566
NM_000170.2(GLDC):c.2113G>A (p.Val705Met) rs147275962
NM_000170.2(GLDC):c.2186del (p.Ala729fs) rs386833543
NM_000170.2(GLDC):c.2196T>A (p.Asn732Lys) rs386833544
NM_000170.2(GLDC):c.2203-2A>G rs386833545
NM_000170.2(GLDC):c.2203G>T (p.Val735Leu) rs143119940
NM_000170.2(GLDC):c.2216G>A (p.Arg739His) rs121964980
NM_000170.2(GLDC):c.2238T>A (p.Asp746Glu) rs749882600
NM_000170.2(GLDC):c.2267_2269del (p.Phe756del) rs121964975
NM_000170.2(GLDC):c.2281G>A (p.Gly761Arg) rs386833549
NM_000170.2(GLDC):c.2284G>A (p.Gly762Arg) rs386833550
NM_000170.2(GLDC):c.2293C>T (p.Pro765Ser) rs386833551
NM_000170.2(GLDC):c.2311G>A (p.Gly771Arg) rs386833553
NM_000170.2(GLDC):c.2316-13dup rs3215923
NM_000170.2(GLDC):c.2316-1G>A rs386833554
NM_000170.2(GLDC):c.2368C>T (p.Arg790Trp) rs386833556
NM_000170.2(GLDC):c.2380G>A (p.Ala794Thr) rs141933811
NM_000170.2(GLDC):c.2423_2426dup (p.Ile810fs) rs755313904
NM_000170.2(GLDC):c.245T>C (p.Leu82Ser) rs386833559
NM_000170.2(GLDC):c.2481_2484del (p.Gln828fs) rs766762760
NM_000170.2(GLDC):c.2487C>T (p.Ala829=) rs141806715
NM_000170.2(GLDC):c.2489C>T (p.Thr830Met) rs386833560
NM_000170.2(GLDC):c.2490G>T (p.Thr830=) rs145407593
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.2527C>T (p.Arg843Ter) rs1554643360
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.262G>A (p.Asp88Asn) rs770826242
NM_000170.2(GLDC):c.2665+1G>C rs149070244
NM_000170.2(GLDC):c.2730G>A (p.Ser910=) rs144937031
NM_000170.2(GLDC):c.2748G>A (p.Leu916=) rs139982267
NM_000170.2(GLDC):c.2798T>C (p.Ile933Thr) rs758029533
NM_000170.2(GLDC):c.2838+2T>C rs1554641887
NM_000170.2(GLDC):c.2838+5G>A rs386833568
NM_000170.2(GLDC):c.2891dup (p.Tyr964Ter) rs386833572
NM_000170.2(GLDC):c.28del (p.Leu10fs) rs386833574
NM_000170.2(GLDC):c.2919+1G>A rs386833575
NM_000170.2(GLDC):c.2919+3A>G rs73639325
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.2980G>A (p.Gly994Arg) rs1406713104
NM_000170.2(GLDC):c.2988G>C (p.Gln996His) rs138640017
NM_000170.2(GLDC):c.482A>G (p.Tyr161Cys) rs386833580
NM_000170.2(GLDC):c.498T>C (p.Pro166=) rs150193069
NM_000170.2(GLDC):c.499G>T (p.Glu167Ter) rs191905539
NM_000170.2(GLDC):c.4C>T (p.Gln2Ter) rs1554652870
NM_000170.2(GLDC):c.63C>A (p.Arg21=) rs372141443
NM_000170.2(GLDC):c.671G>A (p.Arg224His) rs28617412
NM_000170.2(GLDC):c.678C>T (p.His226=) rs12006003
NM_000170.2(GLDC):c.706C>T (p.Arg236Ter) rs386833585
NM_000170.2(GLDC):c.793del (p.Gln265fs) rs386833586
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.806C>T (p.Thr269Met) rs386833587
NM_000170.2(GLDC):c.847G>C (p.Ala283Pro) rs386833589
NM_000170.2(GLDC):c.911C>T (p.Pro304Leu) rs1207147043
NM_000170.3(GLDC):c.1210C>T (p.Leu404=) rs781450542
NM_000170.3(GLDC):c.1367G>A (p.Arg456Gln)
NM_000170.3(GLDC):c.1554G>C (p.Pro518=) rs377219563
NM_000170.3(GLDC):c.1734C>T (p.Asn578=)
NM_000170.3(GLDC):c.1791G>C (p.Glu597Asp)
NM_000170.3(GLDC):c.1828C>T (p.Gln610Ter)
NM_000170.3(GLDC):c.1830G>A (p.Gln610=)
NM_000170.3(GLDC):c.1868_1869dup (p.Ala624fs) rs772068893
NM_000170.3(GLDC):c.1926+6T>C rs200007891
NM_000170.3(GLDC):c.1974C>A (p.Ala658=) rs534062853
NM_000170.3(GLDC):c.2028C>T (p.Ile676=)
NM_000170.3(GLDC):c.2052+1G>A rs765906340
NM_000170.3(GLDC):c.2307C>T (p.Pro769=) rs565834029
NM_000170.3(GLDC):c.2310C>T (p.Ile770=) rs765661419
NM_000170.3(GLDC):c.2328C>T (p.Leu776=) rs149600380
NM_000170.3(GLDC):c.250C>T (p.Leu84=) rs746606221
NM_000170.3(GLDC):c.258C>T (p.Ser86=) rs562000292
NM_000170.3(GLDC):c.2683A>G rs141152043
NM_000170.3(GLDC):c.2863G>A (p.Val955Ile) rs148540696
NM_000170.3(GLDC):c.2874C>T (p.Ser958=) rs146339375
NM_000170.3(GLDC):c.3002C>A (p.Thr1001Asn) rs555776146
NM_000170.3(GLDC):c.319A>G rs138454333
NM_000170.3(GLDC):c.489A>G (p.Pro163=) rs770044310
NM_000170.3(GLDC):c.52G>T rs535143891
NM_000170.3(GLDC):c.576C>G (p.Ala192=) rs768514155
NM_000170.3(GLDC):c.609C>T (p.Ala203=) rs201699152
NM_000170.3(GLDC):c.632A>G (p.Tyr211Cys)
NM_000170.3(GLDC):c.78G>C (p.Ser26=) rs915226152
NM_000170.3(GLDC):c.96G>T (p.Pro32=) rs1430526811

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