ClinVar Miner

Variants with conflicting interpretations studied for Glycogen storage disease, type II

Coded as:
Minimum review status of the submission for Glycogen storage disease, type II: Y axis collection method of the submission for Glycogen storage disease, type II:
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
312 107 5 81 56 4 18 148

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 II pathogenic likely pathogenic uncertain significance likely benign benign risk factor other
pathogenic 5 33 6 0 0 1 0
likely pathogenic 47 0 7 2 0 0 0
uncertain significance 5 7 0 18 6 0 0
likely benign 3 2 35 0 15 0 2
benign 1 0 6 28 0 0 1
other 1 0 0 3 3 0 0

Condition to condition summary #

Total conditions: 14
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
not provided 0 86 3 48 36 3 14 97
Glycogen storage disease, type II 473 34 5 42 6 2 7 60
not specified 0 45 0 33 22 3 1 54
Glycogen storage disease II, adult form 0 2 1 1 0 0 1 3
Glycogen storage disease type II, infantile 0 0 1 2 0 0 0 3
Acid alpha-glucosidase, allele 2 0 0 0 0 0 1 0 1
Acid alpha-glucosidase, allele 4 0 0 0 0 0 1 1 1
Ciliary dyskinesia 0 12 0 1 0 0 0 1
Coronary heart disease 7 0 0 0 0 0 1 0 1
Deafness, autosomal recessive 63 0 0 0 1 0 0 0 1
Glycogen storage disease 0 1 1 0 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 0 1
Limb-girdle muscular dystrophy, type 2B 0 0 0 1 0 0 0 1
Muscular Diseases 0 0 1 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 148
Download table as spreadsheet
HGVS dbSNP
Multiple alleles
NM_000152.3(GAA):c.1099T>C (p.Trp367Arg) rs1555600061
NM_000152.3(GAA):c.1195-15G>A rs373840229
NM_000152.3(GAA):c.1378G>A (p.Glu460Lys) rs771213237
NM_000152.3(GAA):c.1392G>C (p.Arg464Ser) rs372786811
NM_000152.3(GAA):c.1437+8G>A rs779194427
NM_000152.3(GAA):c.1441T>C (p.Trp481Arg) rs772883420
NM_000152.3(GAA):c.1548G>A (p.Trp516Ter) rs140826989
NM_000152.3(GAA):c.1552-13G>A rs111261964
NM_000152.3(GAA):c.1552-3C>G rs375470378
NM_000152.3(GAA):c.1843G>A (p.Gly615Arg) rs549029029
NM_000152.3(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.3(GAA):c.1978C>T (p.Arg660Cys) rs759518659
NM_000152.3(GAA):c.1979G>A (p.Arg660His) rs374143224
NM_000152.3(GAA):c.2014C>T (p.Arg672Trp) rs757111744
NM_000152.3(GAA):c.2015G>A (p.Arg672Gln) rs778418246
NM_000152.3(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.3(GAA):c.2105G>A (p.Arg702His) rs398123172
NM_000152.3(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.3(GAA):c.2316G>T (p.Trp772Cys) rs1057524664
NM_000152.3(GAA):c.2501_2502delCA (p.Thr834Argfs) rs886043343
NM_000152.3(GAA):c.2560C>T (p.Arg854Ter) rs121907943
NM_000152.3(GAA):c.2561G>A (p.Arg854Gln) rs149968110
NM_000152.3(GAA):c.257C>G (p.Pro86Arg) rs2229222
NM_000152.3(GAA):c.2608C>T (p.Arg870Ter) rs780321415
NM_000152.3(GAA):c.271G>A (p.Asp91Asn) rs1800299
NM_000152.3(GAA):c.32G>A (p.Arg11Gln) rs138812846
NM_000152.3(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000152.3(GAA):c.525delT (p.Glu176Argfs) rs386834235
NM_000152.3(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.3(GAA):c.655G>A (p.Gly219Arg) rs370950728
NM_000152.3(GAA):c.670C>T (p.Arg224Trp) rs757700700
NM_000152.3(GAA):c.752C>T (p.Ser251Leu) rs200856561
NM_000152.3(GAA):c.761C>T (p.Ser254Leu) rs577915581
NM_000152.3(GAA):c.784G>A (p.Glu262Lys) rs201896815
NM_000152.3(GAA):c.853C>T (p.Pro285Ser) rs886042086
NM_000152.3(GAA):c.875A>G (p.Tyr292Cys) rs1057516600
NM_000152.3(GAA):c.925G>A (p.Gly309Arg) rs543300039
NM_000152.3(GAA):c.953T>C (p.Met318Thr) rs121907936
NM_000152.3(GAA):c.971C>T (p.Pro324Leu) rs750030887
NM_000152.4(GAA):c.*223C>T rs8132
NM_000152.4(GAA):c.*3G>A rs1800317
NM_000152.4(GAA):c.-312C>T rs574326920
NM_000152.4(GAA):c.-32-13T>G rs386834236
NM_000152.4(GAA):c.1051delG (p.Val351Cysfs) rs786204507
NM_000152.4(GAA):c.1075+12T>G rs370842677
NM_000152.4(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.4(GAA):c.1128_1129delGGinsC (p.Trp376Cysfs) rs786204646
NM_000152.4(GAA):c.1143C>T (p.Thr381=) rs111832449
NM_000152.4(GAA):c.1143delC (p.Ala382Leufs) rs757458607
NM_000152.4(GAA):c.1193delT (p.Leu398Argfs) rs1057517286
NM_000152.4(GAA):c.1265G>A (p.Arg422Gln) rs2229224
NM_000152.4(GAA):c.1285C>G (p.Gln429Glu) rs528369909
NM_000152.4(GAA):c.1286A>G (p.Gln429Arg) rs200294882
NM_000152.4(GAA):c.1327-18A>G rs2278619
NM_000152.4(GAA):c.1343G>C (p.Ser448Thr) rs145712232
NM_000152.4(GAA):c.1374C>T (p.Tyr458=) rs1800305
NM_000152.4(GAA):c.1416C>T (p.Thr472=) rs368492669
NM_000152.4(GAA):c.1425G>A (p.Pro475=) rs753140491
NM_000152.4(GAA):c.1438-1G>C rs147804176
NM_000152.4(GAA):c.1438-2A>G rs1555600730
NM_000152.4(GAA):c.1438-9G>A rs202211401
NM_000152.4(GAA):c.1447G>A (p.Gly483Arg) rs770590394
NM_000152.4(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.4(GAA):c.1482A>G (p.Thr494=) rs202064115
NM_000152.4(GAA):c.1536C>T (p.Phe512=) rs143491365
NM_000152.4(GAA):c.1556T>C (p.Met519Thr) rs786204720
NM_000152.4(GAA):c.1561G>A (p.Glu521Lys) rs121907937
NM_000152.4(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.4(GAA):c.1581G>A (p.Arg527=) rs1042396
NM_000152.4(GAA):c.1593C>T (p.Asp531=) rs138732016
NM_000152.4(GAA):c.1599C>T (p.Cys533=) rs142766716
NM_000152.4(GAA):c.1629C>T (p.Tyr543=) rs372193105
NM_000152.4(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.4(GAA):c.1726G>A (p.Gly576Ser) rs1800307
NM_000152.4(GAA):c.1754+12G>A rs2304840
NM_000152.4(GAA):c.1758G>A (p.Ala586=) rs79795428
NM_000152.4(GAA):c.1799G>A (p.Arg600His) rs377544304
NM_000152.4(GAA):c.1827delC (p.Tyr609Terfs) rs781088002
NM_000152.4(GAA):c.1830C>T (p.Ala610=) rs61736896
NM_000152.4(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.4(GAA):c.1842G>A (p.Thr614=) rs373955374
NM_000152.4(GAA):c.1848C>T (p.Asp616=) rs377175810
NM_000152.4(GAA):c.1884G>C (p.Val628=) rs780130036
NM_000152.4(GAA):c.1920T>G (p.Pro640=) rs144090460
NM_000152.4(GAA):c.1935C>A (p.Asp645Glu) rs28940868
NM_000152.4(GAA):c.1941C>G (p.Cys647Trp) rs776948121
NM_000152.4(GAA):c.1942G>A (p.Gly648Ser) rs536906561
NM_000152.4(GAA):c.197G>A (p.Arg66Gln) rs200202628
NM_000152.4(GAA):c.2052G>A (p.Pro684=) rs546463058
NM_000152.4(GAA):c.2109C>T (p.Tyr703=) rs150728610
NM_000152.4(GAA):c.2133A>G (p.Thr711=) rs1800310
NM_000152.4(GAA):c.2140delC (p.His714Thrfs) rs786204549
NM_000152.4(GAA):c.2151C>T (p.His717=) rs758725073
NM_000152.4(GAA):c.2152G>A (p.Val718Ile) rs141017311
NM_000152.4(GAA):c.2157G>A (p.Ala719=) rs201523530
NM_000152.4(GAA):c.216C>T (p.Pro72=) rs753287841
NM_000152.4(GAA):c.2173C>T (p.Arg725Trp) rs121907938
NM_000152.4(GAA):c.2190-4G>A rs759974338
NM_000152.4(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.4(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.4(GAA):c.2242dup (p.Glu748Glyfs) rs777275355
NM_000152.4(GAA):c.2253C>T (p.Leu751=) rs140441758
NM_000152.4(GAA):c.2332-10C>G rs373606162
NM_000152.4(GAA):c.2400C>T (p.Ser800=) rs115705591
NM_000152.4(GAA):c.2415G>A (p.Val805=) rs150536507
NM_000152.4(GAA):c.2446G>A (p.Val816Ile) rs1800314
NM_000152.4(GAA):c.2478G>A (p.Leu826=) rs201183207
NM_000152.4(GAA):c.2482_2646del165 (p.Gly828_Asn882del) rs1555603048
NM_000152.4(GAA):c.249C>T (p.Asp83=) rs377351519
NM_000152.4(GAA):c.2571G>T (p.Leu857=) rs17853996
NM_000152.4(GAA):c.2580C>T (p.Asp860=) rs61736894
NM_000152.4(GAA):c.258C>A (p.Pro86=) rs146615896
NM_000152.4(GAA):c.2647-8C>T rs139201641
NM_000152.4(GAA):c.2652G>A (p.Thr884=) rs143642048
NM_000152.4(GAA):c.2668G>C (p.Val890Leu) rs377286472
NM_000152.4(GAA):c.2736G>A (p.Ala912=) rs142472738
NM_000152.4(GAA):c.2739C>G (p.Pro913=) rs370765733
NM_000152.4(GAA):c.2780C>T (p.Thr927Ile) rs1800315
NM_000152.4(GAA):c.2800-11C>G rs374571499
NM_000152.4(GAA):c.318C>T (p.Arg106=) rs762542246
NM_000152.4(GAA):c.351G>A (p.Leu117=) rs574947353
NM_000152.4(GAA):c.368G>A (p.Gly123Glu) rs138034915
NM_000152.4(GAA):c.510C>T (p.Asp170=) rs564758226
NM_000152.4(GAA):c.546+8G>A rs200107080
NM_000152.4(GAA):c.546G>A (p.Thr182=) rs143523371
NM_000152.4(GAA):c.600C>T (p.Val200=) rs150895924
NM_000152.4(GAA):c.642C>T (p.Ser214=) rs1800301
NM_000152.4(GAA):c.658G>T (p.Val220Leu) rs530478036
NM_000152.4(GAA):c.663C>T (p.Ile221=) rs142878958
NM_000152.4(GAA):c.664G>A (p.Val222Met) rs374569672
NM_000152.4(GAA):c.668G>A (p.Arg223His) rs1042395
NM_000152.4(GAA):c.693-4G>T rs200088236
NM_000152.4(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000152.4(GAA):c.711G>A (p.Ala237=) rs368328598
NM_000152.4(GAA):c.726G>A (p.Ala242=) rs148578399
NM_000152.4(GAA):c.736delC (p.Leu246Phefs) rs886043920
NM_000152.4(GAA):c.766_785del20insC (p.Tyr256Argfs) rs786204532
NM_000152.4(GAA):c.858+7_858+8insAGCAGGC rs3071247
NM_000152.4(GAA):c.858+8G>A rs5822325
NM_000152.4(GAA):c.861C>T (p.Pro287=) rs778580823
NM_000152.4(GAA):c.915G>A (p.Gly305=) rs150343359
NM_000152.4(GAA):c.917C>T (p.Ser306Leu) rs138097673
NM_000152.4(GAA):c.921A>T (p.Ala307=) rs1800303
NM_000152.4(GAA):c.955+14C>A rs756921041
NM_000152.5(GAA):c.1826dup (p.Tyr609Terfs) rs786204727
NM_017950.3(CCDC40):c.3340G>A (p.Val1114Met) rs61740509

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