ClinVar Miner

Variants with conflicting interpretations studied for Congenital disorder of glycosylation

Coded as:
Minimum review status of the submission for Congenital disorder of glycosylation: Y axis collection method of the submission for Congenital disorder of glycosylation:
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
867 105 0 84 128 0 1 212

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
Congenital disorder of glycosylation pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0 0
uncertain significance 1 0 0 109 40
likely benign 0 0 0 0 74
benign 0 0 1 9 0

Condition to condition summary #

Total conditions: 33
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 specified 0 35 0 73 108 0 0 181
not provided 0 35 0 12 11 0 1 24
Congenital disorder of glycosylation type 1I; Myasthenic syndrome, congenital, 14 0 3 0 3 4 0 0 7
Congenital disorder of glycosylation type 2B 0 1 0 2 5 0 0 7
Congenital disorder of glycosylation type 1M 0 0 0 0 6 0 0 6
Congenital disorder of glycosylation type 1t 0 29 0 6 0 0 0 6
Congenital disorder of glycosylation type 1B 0 4 0 2 3 0 0 5
Congenital disorder of glycosylation type 1H 0 2 0 1 4 0 0 5
Congenital disorder of glycosylation type 1E 0 2 0 1 3 0 0 4
Acute intermittent porphyria 0 3 0 1 2 0 0 3
Carbohydrate-deficient glycoprotein syndrome type I 0 0 0 1 2 0 0 3
Congenital disorder of glycosylation type 1C 0 0 0 1 2 0 0 3
Congenital disorder of glycosylation type 1F 0 0 0 2 1 0 0 3
Congenital disorder of glycosylation type 2L; Shaheen syndrome 0 0 0 2 1 0 0 3
Congenital disorder of glycosylation type 2i 0 1 0 1 2 0 0 3
Parkinson Disease, Recessive 0 16 0 3 0 0 0 3
ALG12-congenital disorder of glycosylation 0 0 0 2 0 0 0 2
Congenital disorder of glycosylation type 1P 0 0 0 2 0 0 0 2
Congenital disorder of glycosylation type 1u 0 2 0 1 1 0 0 2
Congenital disorder of glycosylation type 2C 0 0 0 0 2 0 0 2
Congenital disorder of glycosylation type 2J 0 1 0 1 1 0 0 2
Congenital disorder of glycosylation type Ir 0 0 0 0 2 0 0 2
Carbohydrate-deficient glycoprotein syndrome type II 0 0 0 1 0 0 0 1
Congenital disorder of glycosylation type 1D 0 0 0 0 1 0 0 1
Congenital disorder of glycosylation type 1J; Congenital myasthenic syndrome 13 0 1 0 0 1 0 0 1
Congenital disorder of glycosylation type 1K 0 0 0 1 0 0 0 1
Congenital disorder of glycosylation type 1O 0 0 0 0 1 0 0 1
Congenital disorder of glycosylation type 1Q 0 0 0 0 1 0 0 1
Finnish congenital nephrotic syndrome 0 0 0 1 0 0 0 1
History of neurodevelopmental disorder 0 1 0 0 1 0 0 1
Mental retardation, autosomal recessive 7 0 0 0 1 0 0 0 1
Pontoneocerebellar hypoplasia 0 6 0 0 1 0 0 1
Wilson disease 0 1 0 1 1 0 0 1

All variants with conflicting interpretations #

Total variants: 212
Download table as spreadsheet
HGVS dbSNP
NM_000053.3(ATP7B):c.-123_-119dupCGCCG rs148013251
NM_000190.4(HMBS):c.606G>T (p.Val202=) rs1131488
NM_000303.2(PMM2):c.*10G>A rs200930493
NM_000303.2(PMM2):c.*17G>A rs9936097
NM_000303.2(PMM2):c.110A>T (p.Gln37Leu) rs2304472
NM_000303.2(PMM2):c.324G>A (p.Ala108=) rs62031146
NM_000303.2(PMM2):c.447+4C>T rs537238935
NM_000303.2(PMM2):c.590A>C (p.Glu197Ala) rs34258285
NM_000303.2(PMM2):c.597C>T (p.Asp199=) rs376412367
NM_000303.2(PMM2):c.90C>G (p.Asp30Glu) rs201556985
NM_000303.2(PMM2):c.93C>T (p.Phe31=) rs61730638
NM_001004127.2(ALG11):c.323A>G (p.Asn108Ser) rs17480245
NM_001004127.2(ALG11):c.933G>A (p.Pro311=) rs61958802
NM_001007027.2(ALG8):c.1316T>C (p.Ile439Thr) rs17825668
NM_001007027.2(ALG8):c.803G>A (p.Arg268Gln) rs61995925
NM_001007027.2(ALG8):c.96-6G>C rs199911532
NM_001382.3(DPAGT1):c.*265A>G rs28990974
NM_001382.3(DPAGT1):c.*427T>G rs28990975
NM_001382.3(DPAGT1):c.918-4G>A rs201656540
NM_001497.3(B4GALT1):c.1050A>G (p.Glu350=) rs147070468
NM_001497.3(B4GALT1):c.412+11G>T rs73472943
NM_001497.3(B4GALT1):c.597C>T (p.His199=) rs1065765
NM_001497.3(B4GALT1):c.621G>A (p.Leu207=) rs145241128
NM_001497.3(B4GALT1):c.960-12T>C rs200943121
NM_002408.3(MGAT2):c.1233A>T (p.Leu411=) rs563513161
NM_002408.3(MGAT2):c.261G>T (p.Leu87=) rs2228449
NM_002408.3(MGAT2):c.360G>A (p.Leu120=) rs148802016
NM_002408.3(MGAT2):c.63C>T (p.Gly21=) rs146729850
NM_002435.2(MPI):c.1049C>T (p.Thr350Met) rs116933453
NM_002435.2(MPI):c.10C>T (p.Pro4Ser) rs143982014
NM_002435.2(MPI):c.684C>T (p.Asn228=) rs139190144
NM_002435.2(MPI):c.762C>T (p.Ile254=) rs12440159
NM_002435.2(MPI):c.982C>T (p.Arg328Trp) rs117089191
NM_002633.2(PGM1):c.*22C>T rs8294
NM_002633.2(PGM1):c.1028+11C>A rs541069522
NM_002633.2(PGM1):c.1144+10A>G rs886046482
NM_002633.2(PGM1):c.1145-7C>G rs72922609
NM_002633.2(PGM1):c.1280+7C>T rs72922610
NM_002633.2(PGM1):c.1500C>T (p.Ile500=) rs61737416
NM_002633.2(PGM1):c.1501G>A (p.Val501Ile) rs6676290
NM_002633.2(PGM1):c.1599+9C>T rs115864084
NM_002633.2(PGM1):c.262A>G (p.Ile88Val) rs855314
NM_002633.2(PGM1):c.399T>C (p.Ile133=) rs1126727
NM_002633.2(PGM1):c.420A>G (p.Pro140=) rs141007881
NM_002633.2(PGM1):c.661C>T (p.Arg221Cys) rs1126728
NM_002633.2(PGM1):c.900T>C (p.His300=) rs145807501
NM_003859.2(DPM1):c.161+10C>T rs779869066
NM_003859.2(DPM1):c.22C>T (p.Arg8Cys) rs201392536
NM_003859.2(DPM1):c.40C>T (p.Arg14Trp) rs117175017
NM_003859.2(DPM1):c.679-7A>T rs60224379
NM_003859.2(DPM1):c.679-7_679-6insT rs11480415
NM_003859.2(DPM1):c.679-7_679-6insTT rs11480415
NM_003859.2(DPM1):c.84G>A (p.Ser28=) rs16995639
NM_003859.2(DPM1):c.84G>C (p.Ser28=) rs16995639
NM_003863.3(DPM2):c.177C>T (p.Leu59=) rs35334863
NM_003863.3(DPM2):c.183G>A (p.Leu61=) rs11552794
NM_004870.3(MPDU1):c.393C>T (p.Val131=) rs79286384
NM_004870.3(MPDU1):c.403G>C (p.Ala135Pro) rs137983973
NM_004870.3(MPDU1):c.411C>T (p.Tyr137=) rs142551371
NM_004870.3(MPDU1):c.43C>T (p.Pro15Ser) rs148935720
NM_004870.3(MPDU1):c.673G>A (p.Gly225Ser) rs16956808
NM_004870.3(MPDU1):c.685G>A (p.Ala229Thr) rs10852891
NM_004870.4(MPDU1):c.-36C>T rs370389790
NM_005216.4(DDOST):c.*462A>G rs559542
NM_005216.4(DDOST):c.*566_*577delTAAATAAATAAA rs78039244
NM_005216.4(DDOST):c.1050C>T (p.Gly350=) rs190780604
NM_005216.4(DDOST):c.117G>A (p.Ala39=) rs17837938
NM_005216.4(DDOST):c.199C>T (p.Leu67=) rs143421115
NM_005216.4(DDOST):c.219G>A (p.Glu73=) rs747449468
NM_005216.4(DDOST):c.403+9G>A rs367895981
NM_005216.4(DDOST):c.40A>C (p.Arg14=) rs61739382
NM_005216.4(DDOST):c.508-14T>A rs373001976
NM_005216.4(DDOST):c.714G>A (p.Gly238=) rs41307775
NM_005216.4(DDOST):c.827C>T (p.Ala276Val) rs138061134
NM_005216.4(DDOST):c.882C>T (p.Ala294=) rs6692016
NM_005216.4(DDOST):c.944G>A (p.Arg315Gln) rs117925699
NM_005787.5(ALG3):c.*50T>G rs706584
NM_005787.5(ALG3):c.1271C>T (p.Pro424Leu) rs79144888
NM_005787.5(ALG3):c.222C>T (p.Tyr74=) rs200875721
NM_005787.5(ALG3):c.319A>G (p.Ile107Val) rs2233463
NM_005787.5(ALG3):c.51A>G (p.Ala17=) rs763727038
NM_005787.5(ALG3):c.591T>C (p.Gly197=) rs2233464
NM_005787.5(ALG3):c.777C>T (p.Ser259=) rs142901178
NM_005787.5(ALG3):c.933-4C>T rs190571910
NM_006302.2(MOGS):c.1509A>C (p.Leu503=) rs759481390
NM_006302.2(MOGS):c.1587C>T (p.Asp529=) rs190772368
NM_006302.2(MOGS):c.1838G>A (p.Arg613Gln) rs142032474
NM_006302.2(MOGS):c.184G>A (p.Val62Met) rs79181168
NM_006302.2(MOGS):c.2032C>T (p.Arg678Trp) rs13405869
NM_006302.2(MOGS):c.2055T>C (p.Tyr685=) rs202094225
NM_006302.2(MOGS):c.2353G>A (p.Gly785Ser) rs35533773
NM_006302.2(MOGS):c.85C>G (p.Arg29Gly) rs369653963
NM_006302.2(MOGS):c.881C>T (p.Pro294Leu) rs184209905
NM_006348.3(COG5):c.-6G>A rs55840928
NM_006348.3(COG5):c.1093A>G (p.Ile365Val) rs34087251
NM_006348.3(COG5):c.1350A>G (p.Leu450=) rs74443110
NM_006348.3(COG5):c.1355A>G (p.His452Arg) rs35393416
NM_006348.3(COG5):c.1383C>A (p.Phe461Leu) rs184902233
NM_006348.3(COG5):c.1782T>G (p.Val594=) rs17349904
NM_006348.3(COG5):c.1869T>C (p.Ala623=) rs142970891
NM_006348.3(COG5):c.1920C>T (p.Ile640=) rs35581984
NM_006348.3(COG5):c.357A>G (p.Ala119=) rs113660545
NM_006348.3(COG5):c.440+4C>A rs2066735
NM_006348.3(COG5):c.544A>G (p.Ile182Val) rs79413133
NM_006348.3(COG5):c.64G>A (p.Ala22Thr) rs73419464
NM_006348.3(COG5):c.828T>A (p.Ile276=) rs116603307
NM_006348.3(COG5):c.888C>T (p.Asp296=) rs372226278
NM_006348.3(COG5):c.969T>G (p.Thr323=) rs74522314
NM_006416.4(SLC35A1):c.*240G>T rs9450722
NM_006416.4(SLC35A1):c.-21G>A rs886061815
NM_006416.4(SLC35A1):c.887-14T>C rs56136150
NM_006765.3(TUSC3):c.309-6T>C rs1035972
NM_006765.3(TUSC3):c.768T>C (p.Tyr256=) rs149033081
NM_006765.3(TUSC3):c.912G>A (p.Ser304=) rs17121892
NM_006765.3(TUSC3):c.992C>A (p.Ser331Ter) rs200667343
NM_013339.4(ALG6):c.-207-12T>C rs183861757
NM_013339.4(ALG6):c.-221C>G rs886046470
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=) rs116660078
NM_013339.4(ALG6):c.156G>A (p.Pro52=) rs751004049
NM_013339.4(ALG6):c.167+7T>C rs374146302
NM_013339.4(ALG6):c.495A>G (p.Gln165=) rs886046471
NM_013339.4(ALG6):c.726C>T (p.Phe242=) rs59848367
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe) rs4630153
NM_013339.4(ALG6):c.981T>C (p.Phe327=) rs75451833
NM_014908.3(DOLK):c.-49A>G rs116439010
NM_014908.3(DOLK):c.1314C>T (p.Leu438=) rs148118523
NM_014908.3(DOLK):c.1446G>A (p.Ala482=) rs201027607
NM_014908.3(DOLK):c.186G>A (p.Arg62=) rs148171062
NM_014908.3(DOLK):c.513T>C (p.Leu171=) rs886063514
NM_014908.3(DOLK):c.579G>A (p.Glu193=) rs28365522
NM_014908.3(DOLK):c.631C>T (p.Arg211Cys) rs145310298
NM_014908.3(DOLK):c.633C>T (p.Arg211=) rs147647278
NM_015386.2(COG4):c.1195+8C>T rs80034177
NM_015386.2(COG4):c.1605A>C (p.Thr535=) rs751237267
NM_015386.2(COG4):c.1759C>A (p.Gln587Lys) rs113455884
NM_015386.2(COG4):c.1827+12G>C rs372162273
NM_015386.2(COG4):c.2142G>A (p.Ser714=) rs11054
NM_015386.2(COG4):c.2163G>A (p.Thr721=) rs150547677
NM_015386.2(COG4):c.2278T>C (p.Leu760=) rs113010015
NM_015386.2(COG4):c.485C>T (p.Thr162Ile) rs3931036
NM_015386.2(COG4):c.592C>T (p.Arg198Cys) rs118183032
NM_015386.2(COG4):c.646C>T (p.Leu216=) rs3762171
NM_018389.4(SLC35C1):c.-3A>G rs3808976
NM_018389.4(SLC35C1):c.1054C>T (p.Pro352Ser) rs145613857
NM_018389.4(SLC35C1):c.522C>T (p.Cys174=) rs141379070
NM_018389.4(SLC35C1):c.718A>G (p.Ile240Val) rs7130656
NM_018389.4(SLC35C1):c.747C>T (p.Leu249=) rs567642788
NM_018475.4(TMEM165):c.433+15C>A rs370138167
NM_018714.2(COG1):c.1357G>C (p.Glu453Gln) rs62621249
NM_018714.2(COG1):c.1473C>T (p.Ser491=) rs1551036
NM_018714.2(COG1):c.2620-10T>G rs144989249
NM_018714.2(COG1):c.401C>T (p.Ser134Leu) rs146066919
NM_019109.4(ALG1):c.773C>T (p.Ser258Leu) rs28939378
NM_020320.4(RARS2):c.1704A>G (p.Lys568=) rs8802
NM_020751.2(COG6):c.-17dupG rs67765306
NM_020751.2(COG6):c.-21_-20insC rs746938820
NM_020751.2(COG6):c.1009+9A>G rs4129745
NM_020751.2(COG6):c.1075-12A>C rs370228676
NM_020751.2(COG6):c.1340T>C (p.Met447Thr) rs41286961
NM_020751.2(COG6):c.1693-4delA rs66629036
NM_020751.2(COG6):c.1693-6A>T rs78336861
NM_020751.2(COG6):c.1693-7_1693-6delTA rs1491507046
NM_020751.2(COG6):c.1947G>A (p.Pro649=) rs147311831
NM_020751.2(COG6):c.320A>T (p.Asp107Val) rs146229425
NM_020751.2(COG6):c.624-3dupT rs397756552
NM_020751.2(COG6):c.69G>A (p.Gly23=) rs372786424
NM_020751.2(COG6):c.729C>T (p.Asp243=) rs117688574
NM_020751.2(COG6):c.898C>T (p.His300Tyr) rs34555836
NM_024079.4(ALG8):c.665A>G (p.Asn222Ser) rs665278
NM_024079.4(ALG8):c.896T>C (p.Ile299Thr) rs61995922
NM_024105.3(ALG12):c.1029G>A (p.Ala343=) rs62233155
NM_024105.3(ALG12):c.1177A>G (p.Ile393Val) rs3922872
NM_024105.3(ALG12):c.469+13C>T rs78916708
NM_024105.3(ALG12):c.664+12A>G rs9616204
NM_024105.3(ALG12):c.664+9G>C rs9616368
NM_024105.3(ALG12):c.99G>A (p.Val33=) rs76707654
NM_024592.4(SRD5A3):c.-40G>A rs111568566
NM_024592.4(SRD5A3):c.566A>C (p.Tyr189Ser) rs35496669
NM_024592.4(SRD5A3):c.925C>G (p.His309Asp) rs61733673
NM_032382.4(COG8):c.1591C>T (p.Pro531Ser) rs76253513
NM_032382.4(COG8):c.1620A>C (p.Leu540=) rs189199610
NM_032382.4(COG8):c.42A>G (p.Thr14=) rs11542583
NM_032382.4(COG8):c.585+8C>T rs562484375
NM_032382.4(COG8):c.597C>T (p.Asn199=) rs113642086
NM_032382.4(COG8):c.903C>G (p.Pro301=) rs140736262
NM_032409.2(PINK1):c.*265G>T rs512550
NM_032409.2(PINK1):c.1562A>C (p.Asn521Thr) rs1043424
NM_033087.3(ALG2):c.1100T>C (p.Val367Ala) rs35626507
NM_033087.3(ALG2):c.129C>G (p.Arg43=) rs35055733
NM_033087.3(ALG2):c.159C>T (p.His53=) rs527683080
NM_033087.3(ALG2):c.17G>C (p.Gly6Ala) rs180849348
NM_033087.3(ALG2):c.304C>T (p.Leu102=) rs749236548
NM_033087.3(ALG2):c.30C>G (p.Asp10Glu) rs7023652
NM_033087.3(ALG2):c.31T>C (p.Ser11Pro) rs11545137
NM_033087.3(ALG2):c.760T>C (p.Leu254=) rs62562374
NM_033087.3(ALG2):c.84C>G (p.Gly28=) rs61744789
NM_052859.3(RFT1):c.303C>G (p.Gly101=) rs148576979
NM_052859.3(RFT1):c.553G>A (p.Ala185Thr) rs35221142
NM_052859.3(RFT1):c.64-14C>T rs78419624
NM_052859.3(RFT1):c.924G>A (p.Leu308=) rs140603849
NM_153603.3(COG7):c.1137+11A>C rs74012174
NM_153603.3(COG7):c.1455C>T (p.Phe485=) rs116153163
NM_153603.3(COG7):c.1814C>T (p.Thr605Met) rs16940094
NM_153603.3(COG7):c.1890C>A (p.Ile630=) rs199904223
NM_153603.3(COG7):c.1971C>T (p.His657=) rs114458562
NM_153603.3(COG7):c.2052G>A (p.Ser684=) rs142744907
NM_153603.3(COG7):c.2103T>C (p.Pro701=) rs8057712
NM_153603.3(COG7):c.2283C>T (p.Thr761=) rs144814374
NM_153603.3(COG7):c.75C>G (p.Ser25=) rs149481813
NM_153603.3(COG7):c.810+6delA rs150104389
NM_153603.3(COG7):c.900C>T (p.Asn300=) rs112611398
NM_153741.1(DPM3):c.249C>A (p.Ala83=) rs193215070

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