ClinVar Miner

Variants in gene combination ITGA2, MOCS2 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
0 11 0 12 3 0 0 15

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.

uncertain significance likely benign benign
uncertain significance 0 3 0
likely benign 3 0 12
benign 0 12 0

All variants with conflicting interpretations #

Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_002203.4(ITGA2):c.*1252G>A rs1042324
NM_002203.4(ITGA2):c.*2505_*2508CAAA[3] rs72277253
NM_002203.4(ITGA2):c.*2570C>T rs1900182
NM_002203.4(ITGA2):c.*2574C>G rs75427194
NM_002203.4(ITGA2):c.*2939C>T rs7700416
NM_002203.4(ITGA2):c.*3164G>A rs7737412
NM_002203.4(ITGA2):c.*3763_*3764del rs145759303
NM_002203.4(ITGA2):c.*3918G>C rs10471829
NM_002203.4(ITGA2):c.*4045_*4047AGT[1] rs71727762
NM_002203.4(ITGA2):c.*4098C>G rs10471830
NM_002203.4(ITGA2):c.*760_*761insTTAT rs3212652
NM_004531.5(MOCS2):c.*171G>C rs191465075
NM_004531.5(MOCS2):c.*321A>G rs73756618
NM_004531.5(MOCS2):c.*413del rs3839261
NM_004531.5(MOCS2):c.*44A>C rs367775935

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