ClinVar Miner

Variants with conflicting interpretations studied for Non-ketotic hyperglycinemia

Coded as:
Minimum review status of the submission for Non-ketotic hyperglycinemia: Y axis collection method of the submission for Non-ketotic hyperglycinemia:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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 Variants with at least 2 submissions 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 kind of conflict
330 34 21 46 16 0 14 79

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.

All conditions
Non-ketotic hyperglycinemia pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 5 26 4 0 0
likely pathogenic 26 16 7 1 1
uncertain significance 5 7 0 9 10
likely benign 0 0 8 0 12
benign 0 1 12 19 0

Condition to condition summary #

Total conditions: 7
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Non-ketotic hyperglycinemia 348 27 19 37 13 0 10 68
not provided 0 9 2 14 6 0 2 19
not specified 0 9 0 6 4 0 0 9
Inborn genetic diseases 0 0 0 1 0 0 2 3
Abnormality of brain morphology 0 0 0 0 0 0 1 1
Obesity; Global developmental delay; Generalized epilepsy 0 0 1 1 0 0 0 1
Smith-Magenis Syndrome-like 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 79
Download table as spreadsheet
HGVS dbSNP
NM_000170.2(GLDC):c.1009C>T (p.Arg337Ter) rs386833517
NM_000170.2(GLDC):c.1054delA (p.Thr352Glnfs) 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.1166C>T (p.Ala389Val) rs121964979
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.1382G>A (p.Arg461Gln) rs386833524
NM_000170.2(GLDC):c.1384C>G (p.Leu462Val) rs73400312
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.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.1723G>T (p.Glu575Ter) rs1554646529
NM_000170.2(GLDC):c.1786C>T (p.Arg596Ter) rs386833531
NM_000170.2(GLDC):c.1815C>T (p.Leu605=) rs74461075
NM_000170.2(GLDC):c.1926+5G>A rs1554644678
NM_000170.2(GLDC):c.1927-9A>G rs41281773
NM_000170.2(GLDC):c.1940C>T (p.Pro647Leu) rs201135624
NM_000170.2(GLDC):c.1952A>G (p.His651Arg) rs386833536
NM_000170.2(GLDC):c.2053-5C>G rs140877566
NM_000170.2(GLDC):c.2186delC (p.Ala729Glufs) rs386833543
NM_000170.2(GLDC):c.2203-2A>G rs386833545
NM_000170.2(GLDC):c.2203G>T (p.Val735Leu) rs143119940
NM_000170.2(GLDC):c.2267_2269delTCT (p.Phe756del) rs121964975
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.2316-1G>A rs386833554
NM_000170.2(GLDC):c.2352C>T (p.Pro784=) rs367781728
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_2426dupGTTC (p.Ile810Phefs) rs755313904
NM_000170.2(GLDC):c.2489C>T (p.Thr830Met) rs386833560
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.2665+1G>C rs149070244
NM_000170.2(GLDC):c.2683A>G (p.Met895Val) rs141152043
NM_000170.2(GLDC):c.2730G>A (p.Ser910=) rs144937031
NM_000170.2(GLDC):c.2838+2T>C rs1554641887
NM_000170.2(GLDC):c.2891dupA (p.Tyr964Terfs) rs386833572
NM_000170.2(GLDC):c.28delC (p.Leu10Cysfs) rs386833574
NM_000170.2(GLDC):c.2919+1G>A rs386833575
NM_000170.2(GLDC):c.2919+3A>G rs73639325
NM_000170.2(GLDC):c.2938A>G (p.Asn980Asp) rs772574530
NM_000170.2(GLDC):c.319A>G (p.Met107Val) rs138454333
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.52G>T (p.Gly18Cys) rs535143891
NM_000170.2(GLDC):c.666T>C (p.Asp222=) rs12004164
NM_000170.2(GLDC):c.671G>A (p.Arg224His) rs28617412
NM_000170.2(GLDC):c.793delC (p.Gln265Serfs) rs386833586
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.871T>G (p.Cys291Gly) rs141014950
NM_000481.3(AMT):c.1145G>A (p.Arg382Gln) rs141246107
NM_000481.3(AMT):c.125A>G (p.His42Arg) rs121964983
NM_000481.3(AMT):c.139G>A (p.Gly47Arg) rs121964982
NM_000481.3(AMT):c.153G>A (p.Ala51=) rs768510463
NM_000481.3(AMT):c.217C>T (p.Arg73Cys) rs386833679
NM_000481.3(AMT):c.230C>T (p.Ser77Leu) rs386833680
NM_000481.3(AMT):c.350C>T (p.Ser117Leu) rs769468125
NM_000481.3(AMT):c.471+2T>C rs386833684
NM_000481.3(AMT):c.574C>T (p.Gln192Ter) rs121964986
NM_000481.3(AMT):c.631G>A (p.Glu211Lys) rs116192290
NM_000481.3(AMT):c.826G>C (p.Asp276His) rs121964984
NM_000481.3(AMT):c.84C>T (p.Cys28=) rs763223038
NM_000481.3(AMT):c.878-1G>A rs181134220
NM_000481.3(AMT):c.887G>A (p.Arg296His) rs386833690
NM_000481.3(AMT):c.898A>G (p.Met300Val) rs144971200
NM_000481.3(AMT):c.958C>T (p.Arg320Cys) rs866625610
NM_000481.3(AMT):c.959G>A (p.Arg320His) rs121964985
NM_000481.3(AMT):c.982dup (p.Ala328Glyfs) rs1553638266

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