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 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
66 49 0 20 9 0 0 29

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 8 1
likely benign 8 0 20
benign 1 20 0

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_001852.3(COL9A2):c.-43G>A rs373454857
NM_001852.3(COL9A2):c.1003C>G (p.Leu335Val) rs2228567
NM_001852.3(COL9A2):c.1007C>A (p.Ala336Glu) rs150075912
NM_001852.3(COL9A2):c.1041C>T (p.Gly347=) rs138882727
NM_001852.3(COL9A2):c.1053+7C>T rs79627294
NM_001852.3(COL9A2):c.1062G>A (p.Pro354=) rs6676013
NM_001852.3(COL9A2):c.1150A>C (p.Met384Leu) rs145327896
NM_001852.3(COL9A2):c.1161+10T>A rs117563156
NM_001852.3(COL9A2):c.1188G>A (p.Val396=) rs201054854
NM_001852.3(COL9A2):c.1288-12C>T rs77695700
NM_001852.3(COL9A2):c.1368+12G>A rs112370406
NM_001852.3(COL9A2):c.1551C>T (p.Gly517=) rs140697524
NM_001852.3(COL9A2):c.1599G>T (p.Leu533=) rs142974512
NM_001852.3(COL9A2):c.1741G>A (p.Val581Ile) rs3737821
NM_001852.3(COL9A2):c.1824A>G (p.Glu608=) rs138949427
NM_001852.3(COL9A2):c.1981C>A (p.Pro661Thr) rs140041506
NM_001852.3(COL9A2):c.1982C>T (p.Pro661Leu) rs150687987
NM_001852.3(COL9A2):c.2001C>T (p.Ala667=) rs2229826
NM_001852.3(COL9A2):c.2019G>A (p.Ser673=) rs148008235
NM_001852.3(COL9A2):c.31C>T (p.Leu11Phe) rs74506933
NM_001852.3(COL9A2):c.364-16A>G rs1979785
NM_001852.3(COL9A2):c.364-8C>T rs11207843
NM_001852.3(COL9A2):c.544A>G (p.Met182Val) rs113549021
NM_001852.3(COL9A2):c.737C>T (p.Thr246Met) rs2228565
NM_001852.3(COL9A2):c.738+10T>C rs56326652
NM_001852.3(COL9A2):c.955-4C>G rs118135975
NM_001852.3(COL9A2):c.95G>A (p.Arg32Gln) rs200424850
NM_001852.3(COL9A2):c.976C>T (p.Gln326Ter) rs12077871
NM_001852.3(COL9A2):c.976_977delCAinsTG (p.Gln326Trp) rs137853213

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