ClinVar Miner

Variants in gene COG5 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
157 7 0 6 16 0 0 21

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 1 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 9 7
likely benign 0 0 9 0 5
benign 0 0 7 5 0

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
NM_006348.5(COG5):c.1037C>T (p.Pro346Leu) rs143773937
NM_006348.5(COG5):c.117C>T (p.Asn39=) rs138518242
NM_006348.5(COG5):c.1211A>G (p.Gln404Arg) rs189560910
NM_006348.5(COG5):c.1247A>G (p.Tyr416Cys) rs41276187
NM_006348.5(COG5):c.1262A>G (p.His421Arg) rs35393416
NM_006348.5(COG5):c.1290C>A (p.Phe430Leu) rs184902233
NM_006348.5(COG5):c.15C>G (p.Gly5=) rs202123650
NM_006348.5(COG5):c.1686+7A>G rs373280339
NM_006348.5(COG5):c.1776T>C (p.Ala592=) rs142970891
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr) rs142433421
NM_006348.5(COG5):c.2124A>G (p.Arg708=) rs148020994
NM_006348.5(COG5):c.2231C>T (p.Pro744Leu) rs1135401817
NM_006348.5(COG5):c.2271C>T (p.Pro757=) rs145648013
NM_006348.5(COG5):c.264A>G (p.Ala88=) rs113660545
NM_006348.5(COG5):c.298C>T (p.Leu100Phe) rs150351852
NM_006348.5(COG5):c.451A>G (p.Ile151Val) rs79413133
NM_006348.5(COG5):c.50G>T (p.Gly17Val) rs139763861
NM_006348.5(COG5):c.735T>A (p.Ile245=) rs116603307
NM_006348.5(COG5):c.790T>A (p.Leu264Ile) rs142276972
NM_006348.5(COG5):c.795C>T (p.Asp265=) rs372226278
NM_006348.5(COG5):c.876T>G (p.Thr292=) rs74522314

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