ClinVar Miner

Variants with conflicting interpretations studied for Glycogen storage disease type III

Coded as:
Minimum review status of the submission for Glycogen storage disease type III: Y axis collection method of the submission for Glycogen storage disease type III:
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
301 44 9 45 16 0 5 67

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
Glycogen storage disease type III pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 9 19 2 0 0
likely pathogenic 22 0 4 0 0
uncertain significance 2 5 0 10 4
likely benign 0 0 7 0 10
benign 0 0 5 19 0

Condition to condition summary #

Total conditions: 5
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
Glycogen storage disease type III 349 23 6 25 8 0 4 40
not provided 0 25 8 22 7 0 1 33
not specified 0 13 0 21 9 0 0 29
Glycogen storage disease IIIa 0 2 4 6 0 0 0 9
Glycogen storage disease IIIb 0 0 4 3 0 0 0 4

All variants with conflicting interpretations #

Total variants: 67
Download table as spreadsheet
HGVS dbSNP
NM_000642.2(AGL):c.100C>T (p.Arg34Ter) rs781580050
NM_000642.2(AGL):c.1027C>T (p.Arg343Trp) rs1131691438
NM_000642.2(AGL):c.1065G>A (p.Thr355=) rs764914308
NM_000642.2(AGL):c.1078C>T (p.His360Tyr) rs763554006
NM_000642.2(AGL):c.112A>G (p.Thr38Ala) rs35278779
NM_000642.2(AGL):c.1155G>T (p.Lys385Asn) rs28730701
NM_000642.2(AGL):c.1160G>A (p.Arg387Gln) rs17121464
NM_000642.2(AGL):c.1185+15T>C rs17121466
NM_000642.2(AGL):c.118C>T (p.Gln40Ter) rs771961377
NM_000642.2(AGL):c.1222C>T (p.Arg408Ter) rs113994128
NM_000642.2(AGL):c.1319C>T (p.Ser440Phe) rs149771710
NM_000642.2(AGL):c.1384delG (p.Val462Terfs) rs786204678
NM_000642.2(AGL):c.1481G>A (p.Arg494His) rs141043166
NM_000642.2(AGL):c.1602C>T (p.His534=) rs563472929
NM_000642.2(AGL):c.16C>T (p.Gln6Ter) rs113994126
NM_000642.2(AGL):c.1735+1G>T rs199922945
NM_000642.2(AGL):c.1759C>T (p.His587Tyr) rs139488862
NM_000642.2(AGL):c.1875G>T (p.Thr625=) rs141944878
NM_000642.2(AGL):c.1885G>A (p.Glu629Lys) rs146041189
NM_000642.2(AGL):c.18_19delGA (p.Gln6Hisfs) rs113994127
NM_000642.2(AGL):c.1908A>G (p.Ser636=) rs144723143
NM_000642.2(AGL):c.2039G>A (p.Trp680Ter) rs113994129
NM_000642.2(AGL):c.207T>C (p.Asn69=) rs2230305
NM_000642.2(AGL):c.22delC (p.Arg8Glufs) rs1215043175
NM_000642.2(AGL):c.2309-1G>A rs786204481
NM_000642.2(AGL):c.2522C>T (p.Ser841Phe) rs150441555
NM_000642.2(AGL):c.2546+10T>C rs74551473
NM_000642.2(AGL):c.256C>T (p.Gln86Ter) rs193186112
NM_000642.2(AGL):c.2590C>T (p.Arg864Ter) rs113994130
NM_000642.2(AGL):c.261A>G (p.Gln87=) rs370304606
NM_000642.2(AGL):c.2802A>C (p.Ala934=) rs34230588
NM_000642.2(AGL):c.2883A>G (p.Arg961=) rs113625417
NM_000642.2(AGL):c.2929C>T (p.Arg977Ter) rs531425980
NM_000642.2(AGL):c.293+3A>G rs375459662
NM_000642.2(AGL):c.3199C>T (p.Pro1067Ser) rs3753494
NM_000642.2(AGL):c.3231G>A (p.Lys1077=) rs138063386
NM_000642.2(AGL):c.3343G>A (p.Gly1115Arg) rs2230307
NM_000642.2(AGL):c.3345A>T (p.Gly1115=) rs758265909
NM_000642.2(AGL):c.334A>G (p.Ile112Val) rs147024351
NM_000642.2(AGL):c.3384G>A (p.Ala1128=) rs149393587
NM_000642.2(AGL):c.3431T>A (p.Ile1144Asn) rs2230308
NM_000642.2(AGL):c.3554delC (p.Thr1185Lysfs) rs764318570
NM_000642.2(AGL):c.3682C>T (p.Arg1228Ter) rs113994131
NM_000642.2(AGL):c.3758G>A (p.Arg1253His) rs12043139
NM_000642.2(AGL):c.3792A>T (p.Gly1264=) rs148606237
NM_000642.2(AGL):c.3816_3817delAG (p.Gly1273Asnfs) rs867341758
NM_000642.2(AGL):c.3849T>C (p.Ala1283=) rs28730706
NM_000642.2(AGL):c.3911dupA (p.Asn1304Lysfs) rs745757264
NM_000642.2(AGL):c.3965delT (p.Val1322Alafs) rs113994132
NM_000642.2(AGL):c.3980G>A (p.Trp1327Ter) rs267606640
NM_000642.2(AGL):c.39C>T (p.Asn13=) rs138203039
NM_000642.2(AGL):c.4027G>A (p.Glu1343Lys) rs112795811
NM_000642.2(AGL):c.4162-11G>A rs184309460
NM_000642.2(AGL):c.4197delA (p.Ala1400Leufs) rs786204595
NM_000642.2(AGL):c.4221dupA (p.Leu1408Ilefs) rs786204655
NM_000642.2(AGL):c.4260-12A>G rs369973784
NM_000642.2(AGL):c.4322_4323dupAA (p.Gly1442Lysfs) rs1057516994
NM_000642.2(AGL):c.4331A>G (p.Asn1444Ser) rs143815159
NM_000642.2(AGL):c.4347+1G>A rs1553193463
NM_000642.2(AGL):c.4430C>G (p.Thr1477Ser) rs78348923
NM_000642.2(AGL):c.4456delT (p.Ser1486Profs) rs113994134
NM_000642.2(AGL):c.4459C>T (p.Arg1487Ter) rs12118058
NM_000642.2(AGL):c.4529dupA (p.Tyr1510Terfs) rs387906244
NM_000642.2(AGL):c.664+3A>G rs370792293
NM_000642.2(AGL):c.686A>G (p.Gln229Arg) rs17121403
NM_000642.2(AGL):c.772T>C (p.Ser258Pro) rs886039873
NM_000642.2(AGL):c.82+4A>C rs765098686

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