ClinVar Miner

Variants in gene AGL 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
905 109 9 59 24 0 4 84

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 9 43 3 0 0
likely pathogenic 43 0 4 0 0
uncertain significance 3 4 0 21 7
likely benign 0 0 21 0 16
benign 0 0 7 16 0

All variants with conflicting interpretations #

Total variants: 84
Download table as spreadsheet
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050
NM_000642.3(AGL):c.104T>G (p.Leu35Ter) rs1057516567
NM_000642.3(AGL):c.1065G>A (p.Thr355=) rs764914308
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701
NM_000642.3(AGL):c.118C>T (p.Gln40Ter) rs771961377
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter) rs113994128
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter) rs766536350
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) rs113994126
NM_000642.3(AGL):c.1735+1G>T rs199922945
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) rs139488862
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.1908A>G (p.Ser636=) rs144723143
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129
NM_000642.3(AGL):c.22C>T (p.Arg8Ter) rs1057516870
NM_000642.3(AGL):c.22del (p.Arg8fs) rs1215043175
NM_000642.3(AGL):c.2309-1G>A rs786204481
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs) rs1553187237
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) rs150441555
NM_000642.3(AGL):c.2546+10T>C rs74551473
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter) rs113994130
NM_000642.3(AGL):c.2682-7T>C rs375256646
NM_000642.3(AGL):c.2802A>C (p.Ala934=) rs34230588
NM_000642.3(AGL):c.289C>T (p.Gln97Ter) rs1553183220
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter) rs531425980
NM_000642.3(AGL):c.3011del (p.Pro1004fs) rs1057516306
NM_000642.3(AGL):c.3084-8T>C rs186402161
NM_000642.3(AGL):c.318C>T (p.Tyr106=) rs376885398
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.3231G>A (p.Lys1077=) rs138063386
NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter) rs1553188849
NM_000642.3(AGL):c.3260-19G>A rs140333425
NM_000642.3(AGL):c.3260-20T>C rs17121560
NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter) rs786204490
NM_000642.3(AGL):c.3345A>T (p.Gly1115=) rs758265909
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351
NM_000642.3(AGL):c.3362+1G>A rs1553189468
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn) rs2230308
NM_000642.3(AGL):c.344T>C (p.Val115Ala) rs567992352
NM_000642.3(AGL):c.348_373del (p.Ala117fs) rs1057516308
NM_000642.3(AGL):c.3554del (p.Thr1185fs) rs764318570
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter) rs775498547
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr) rs11807956
NM_000642.3(AGL):c.3668G>A (p.Gly1223Asp) rs202046937
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter) rs113994131
NM_000642.3(AGL):c.3738A>T (p.Gly1246=) rs780617757
NM_000642.3(AGL):c.3758G>A (p.Arg1253His) rs12043139
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs) rs867341758
NM_000642.3(AGL):c.3849T>C (p.Ala1283=) rs28730706
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.3965del (p.Val1322fs) rs113994132
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640
NM_000642.3(AGL):c.39C>T (p.Asn13=) rs138203039
NM_000642.3(AGL):c.4027G>A (p.Glu1343Lys) rs112795811
NM_000642.3(AGL):c.4162-11G>A rs184309460
NM_000642.3(AGL):c.4165_4166del (p.Ala1388_Pro1389insTer) rs1293077915
NM_000642.3(AGL):c.4197del (p.Ala1400fs) rs786204595
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_000642.3(AGL):c.4260-12A>G rs369973784
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser) rs143815159
NM_000642.3(AGL):c.4347+1G>A rs1553193463
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys) rs775685508
NM_000642.3(AGL):c.4422del (p.Ala1475fs)
NM_000642.3(AGL):c.443G>A (p.Arg148Lys) rs542885983
NM_000642.3(AGL):c.4456del (p.Ser1486fs) rs113994134
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244
NM_000642.3(AGL):c.4575T>A (p.Ile1525=) rs372116308
NM_000642.3(AGL):c.500dup (p.Leu168fs) rs1443902661
NM_000642.3(AGL):c.609A>G (p.Lys203=) rs186709388
NM_000642.3(AGL):c.64del (p.Leu22fs) rs1057517057
NM_000642.3(AGL):c.664+3A>G rs370792293
NM_000642.3(AGL):c.684C>T (p.Ile228=) rs961563586
NM_000642.3(AGL):c.772T>C (p.Ser258Pro) rs886039873
NM_000642.3(AGL):c.82+4A>C rs765098686
NM_000642.3(AGL):c.854del (p.Arg285fs) rs1553184620
NM_000642.3(AGL):c.94C>T (p.Gln32Ter) rs786204489
NM_000642.3(AGL):c.968G>A (p.Arg323Gln) rs139399527

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