ClinVar Miner

Variants in gene COL9A2 with conflicting interpretations

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
171 41 0 12 7 0 0 19

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 6 1
likely benign 0 0 6 0 11
benign 0 0 1 11 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
NM_001852.4(COL9A2):c.1007C>A (p.Ala336Glu) rs150075912
NM_001852.4(COL9A2):c.1041C>T (p.Gly347=) rs138882727
NM_001852.4(COL9A2):c.1150A>C (p.Met384Leu) rs145327896
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg) rs373264436
NM_001852.4(COL9A2):c.1551C>T (p.Gly517=) rs140697524
NM_001852.4(COL9A2):c.186G>A (p.Pro62=) rs1085307973
NM_001852.4(COL9A2):c.1870+9T>C rs139929272
NM_001852.4(COL9A2):c.1981C>A (p.Pro661Thr) rs140041506
NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu) rs150687987
NM_001852.4(COL9A2):c.2019G>A (p.Ser673=) rs148008235
NM_001852.4(COL9A2):c.250-7T>C rs146943340
NM_001852.4(COL9A2):c.312C>T (p.Pro104=) rs144072834
NM_001852.4(COL9A2):c.31C>T (p.Leu11Phe) rs74506933
NM_001852.4(COL9A2):c.364-16A>G rs1979785
NM_001852.4(COL9A2):c.519+39del rs137881116
NM_001852.4(COL9A2):c.544A>G (p.Met182Val) rs113549021
NM_001852.4(COL9A2):c.775G>A (p.Gly259Ser) rs148362133
NM_001852.4(COL9A2):c.95G>A (p.Arg32Gln) rs200424850
NM_001852.4(COL9A2):c.976_977inv (p.Gln326Trp)

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