ClinVar Miner

Variants in gene GCDH with conflicting interpretations

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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
504 56 0 73 16 0 36 112

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 0 67 25 0 0
likely pathogenic 67 0 22 0 1
uncertain significance 25 22 0 13 4
likely benign 0 0 13 0 6
benign 0 1 4 6 0

All variants with conflicting interpretations #

Total variants: 112
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000159.4(GCDH):c.852+223C>T rs11085825 0.30906
NM_000159.4(GCDH):c.1085C>A (p.Ala362Asp) rs114759170 0.00453
NM_000159.4(GCDH):c.642G>A (p.Thr214=) rs142806397 0.00170
NM_000159.4(GCDH):c.271+3G>A rs75430014 0.00167
NM_000159.4(GCDH):c.1197C>T (p.His399=) rs139344943 0.00131
NM_000159.4(GCDH):c.1143C>T (p.Ile381=) rs142553521 0.00128
NM_000159.4(GCDH):c.1011A>G (p.Ala337=) rs2229460 0.00093
NM_000159.4(GCDH):c.471C>T (p.Ser157=) rs146682905 0.00081
NM_000159.4(GCDH):c.738G>A (p.Ser246=) rs188548539 0.00023
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_000159.4(GCDH):c.1213A>G (p.Met405Val) rs141437721 0.00018
NM_000159.4(GCDH):c.572T>C (p.Met191Thr) rs149120354 0.00018
NM_000159.4(GCDH):c.627C>T (p.Thr209=) rs143172809 0.00016
NM_000159.4(GCDH):c.735C>T (p.Leu245=) rs372678445 0.00015
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372 0.00014
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn) rs200785120 0.00010
NM_000159.4(GCDH):c.886G>A (p.Gly296Ser) rs539505767 0.00009
NM_000159.4(GCDH):c.801C>T (p.Asp267=) rs141293881 0.00008
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys) rs150938052 0.00007
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg) rs372983141 0.00006
NM_000159.4(GCDH):c.885C>T (p.Tyr295=) rs139192015 0.00006
NM_000159.4(GCDH):c.1092C>T (p.Pro364=) rs146363703 0.00005
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln) rs775606471 0.00005
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys) rs781477694 0.00004
NM_000159.4(GCDH):c.428T>C (p.Val143Ala) rs141456457 0.00004
NM_000159.4(GCDH):c.848del (p.Leu283fs) rs761491320 0.00004
NM_000159.4(GCDH):c.945C>T (p.Tyr315=) rs138133019 0.00004
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) rs567564095 0.00003
NM_000159.4(GCDH):c.1148G>A (p.Arg383His) rs764608975 0.00003
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu) rs1057516344 0.00003
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp) rs766518430 0.00003
NM_000159.4(GCDH):c.876C>T (p.Asn292=) rs1438245420 0.00003
NM_000159.4(GCDH):c.1083-10C>T rs756372984 0.00002
NM_000159.4(GCDH):c.536T>G (p.Leu179Arg) rs774526353 0.00002
NM_000159.4(GCDH):c.641C>T (p.Thr214Met) rs1131692030 0.00002
NM_000159.4(GCDH):c.658G>A (p.Asp220Asn) rs375357230 0.00002
NM_000159.4(GCDH):c.892G>A (p.Ala298Thr) rs761765983 0.00002
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp) rs779315456 0.00002
NM_000159.4(GCDH):c.938G>A (p.Arg313Gln) rs746220312 0.00002
NM_000159.4(GCDH):c.1015A>G (p.Met339Val) rs752234195 0.00001
NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser) rs768925619 0.00001
NM_000159.4(GCDH):c.1082+8C>T rs199627852 0.00001
NM_000159.4(GCDH):c.1169G>C (p.Gly390Ala) rs778153326 0.00001
NM_000159.4(GCDH):c.1199dup (p.Ile401fs) rs1970722328 0.00001
NM_000159.4(GCDH):c.1213dup (p.Met405fs) rs1377352983 0.00001
NM_000159.4(GCDH):c.300G>A (p.Met100Ile) rs759838598 0.00001
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu) rs886043840 0.00001
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys) rs780976048 0.00001
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln) rs755586631 0.00001
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln) rs200639270 0.00001
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890 0.00001
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg) rs1176799813 0.00001
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln) rs777201305 0.00001
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg) rs749452002 0.00001
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu) rs1449724176 0.00001
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu) rs758503371 0.00001
NM_000159.4(GCDH):c.826G>T (p.Val276Leu) rs763300541 0.00001
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser) rs751742575 0.00001
NM_000159.4(GCDH):c.852+5G>A rs886054243 0.00001
NM_000159.4(GCDH):c.873C>A (p.Asn291Lys) rs1328059662 0.00001
NM_000159.4(GCDH):c.910G>A (p.Ala304Thr) rs373203481 0.00001
NM_000159.4(GCDH):c.997C>T (p.Gln333Ter) rs794726972 0.00001
NM_000159.4(GCDH):c.1031C>T (p.Thr344Ile) rs869025299
NM_000159.4(GCDH):c.1082+2T>C rs2145954110
NM_000159.4(GCDH):c.1115G>A (p.Arg372Lys) rs1555751240
NM_000159.4(GCDH):c.1124G>A (p.Cys375Tyr) rs1568429153
NM_000159.4(GCDH):c.1157G>C (p.Arg386Pro) rs398123190
NM_000159.4(GCDH):c.1167G>A (p.Leu389=) rs398123191
NM_000159.4(GCDH):c.1169G>T (p.Gly390Val) rs778153326
NM_000159.4(GCDH):c.1173del (p.Asn392fs) rs754002357
NM_000159.4(GCDH):c.1173dup (p.Asn392fs) rs754002357
NM_000159.4(GCDH):c.1175A>G (p.Asn392Ser) rs2145955095
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln) rs786204626
NM_000159.4(GCDH):c.1207C>T (p.His403Tyr) rs1599619080
NM_000159.4(GCDH):c.1220T>C (p.Leu407Pro) rs1555751379
NM_000159.4(GCDH):c.1228G>A (p.Val410Met) rs760155287
NM_000159.4(GCDH):c.262C>A (p.Arg88Ser) rs142967670
NM_000159.4(GCDH):c.263G>A (p.Arg88His) rs1970568682
NM_000159.4(GCDH):c.271+1G>A rs786204639
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000159.4(GCDH):c.281G>T (p.Arg94Leu) rs566417795
NM_000159.4(GCDH):c.301G>A (p.Gly101Arg) rs1273164833
NM_000159.4(GCDH):c.329_332del (p.Ile110fs) rs1555749434
NM_000159.4(GCDH):c.334G>T (p.Gly112Ter) rs758137643
NM_000159.4(GCDH):c.337T>C (p.Tyr113His) rs1555749853
NM_000159.4(GCDH):c.345_349del (p.Cys115fs)
NM_000159.4(GCDH):c.397G>A (p.Val133Met) rs746388510
NM_000159.4(GCDH):c.397G>T (p.Val133Leu) rs746388510
NM_000159.4(GCDH):c.416C>G (p.Ser139Trp) rs139851890
NM_000159.4(GCDH):c.437C>A (p.Ser146Tyr) rs1555749927
NM_000159.4(GCDH):c.442G>A (p.Val148Ile)
NM_000159.4(GCDH):c.446T>C (p.Met149Thr) rs2145944429
NM_000159.4(GCDH):c.464A>G (p.Tyr155Cys)
NM_000159.4(GCDH):c.514G>T (p.Glu172Ter) rs1057516715
NM_000159.4(GCDH):c.528C>G (p.Cys176Trp) rs756345321
NM_000159.4(GCDH):c.533G>A (p.Gly178Glu) rs786204627
NM_000159.4(GCDH):c.566G>C (p.Ser189Thr) rs764774411
NM_000159.4(GCDH):c.636-4_639del rs775103982
NM_000159.4(GCDH):c.640A>G (p.Thr214Ala) rs1468636851
NM_000159.4(GCDH):c.655G>A (p.Ala219Thr) rs1970675055
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter) rs786205862
NM_000159.4(GCDH):c.680G>A (p.Arg227Gln) rs121434373
NM_000159.4(GCDH):c.683G>T (p.Cys228Phe) rs1970675873
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp) rs964724051
NM_000159.4(GCDH):c.776C>T (p.Ser259Leu) rs367699815
NM_000159.4(GCDH):c.853-2A>G rs1057517410
NM_000159.4(GCDH):c.881G>C (p.Arg294Pro) rs775606471
NM_000159.4(GCDH):c.885C>A (p.Tyr295Ter) rs139192015
NM_000159.4(GCDH):c.901G>A (p.Val301Met)
NM_000159.4(GCDH):c.932dup (p.Ala312fs) rs1970695925
NM_000159.4(GCDH):c.957-6A>C rs748270195
NM_000159.4(GCDH):c.997C>G (p.Gln333Glu) rs794726972

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