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 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
138 19 0 23 3 0 10 34

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 20 6 0 0
likely pathogenic 20 0 6 0 0
uncertain significance 6 6 0 3 0
likely benign 0 0 3 0 3
benign 0 0 0 3 0

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP
NM_000159.2(GCDH):c.1144G>A (p.Ala382Thr) rs567564095
NM_000159.2(GCDH):c.226C>T (p.Gln76Ter) rs898043081
NM_000159.2(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000159.2(GCDH):c.641C>T (p.Thr214Met) rs1131692030
NM_000159.2(GCDH):c.892G>A (p.Ala298Thr) rs761765983
NM_000159.2(GCDH):c.937C>T (p.Arg313Trp) rs779315456
NM_000159.2(GCDH):c.997C>G (p.Gln333Glu) rs794726972
NM_000159.3(GCDH):c.1011A>G (p.Ala337=) rs2229460
NM_000159.3(GCDH):c.1085C>A (p.Ala362Asp) rs114759170
NM_000159.3(GCDH):c.1093G>A (p.Glu365Lys) rs121434370
NM_000159.3(GCDH):c.1143C>T (p.Ile381=) rs142553521
NM_000159.3(GCDH):c.1167G>A (p.Leu389=) rs398123191
NM_000159.3(GCDH):c.1168G>C (p.Gly390Arg) rs372983141
NM_000159.3(GCDH):c.1173delG (p.Asn392Metfs) rs754002357
NM_000159.3(GCDH):c.1198G>A (p.Val400Met) rs121434372
NM_000159.3(GCDH):c.1204C>T (p.Arg402Trp) rs121434369
NM_000159.3(GCDH):c.262C>T (p.Arg88Cys) rs142967670
NM_000159.3(GCDH):c.271+1G>A rs786204639
NM_000159.3(GCDH):c.356C>T (p.Ser119Leu) rs886043840
NM_000159.3(GCDH):c.395G>A (p.Arg132Gln) rs200639270
NM_000159.3(GCDH):c.471C>T (p.Ser157=) rs146682905
NM_000159.3(GCDH):c.479A>G (p.Gln160Arg) rs1176799813
NM_000159.3(GCDH):c.482G>A (p.Arg161Gln) rs777201305
NM_000159.3(GCDH):c.532G>A (p.Gly178Arg) rs749452002
NM_000159.3(GCDH):c.572T>C (p.Met191Thr) rs149120354
NM_000159.3(GCDH):c.636-1G>A rs398123195
NM_000159.3(GCDH):c.642G>A (p.Thr214=) rs142806397
NM_000159.3(GCDH):c.675G>A (p.Trp225Ter) rs786205862
NM_000159.3(GCDH):c.680G>C (p.Arg227Pro) rs121434373
NM_000159.3(GCDH):c.769C>T (p.Arg257Trp) rs766518430
NM_000159.3(GCDH):c.848delT (p.Leu283Argfs) rs761491320
NM_000159.3(GCDH):c.877G>A (p.Ala293Thr) rs121434371
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys) rs150938052
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890

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