ClinVar Miner

Variants in gene EXT2 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
260 17 0 11 10 0 5 25

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 4 0 0
likely pathogenic 1 0 0 0 1
uncertain significance 4 0 0 8 2
likely benign 0 0 8 0 10
benign 0 1 2 10 0

All variants with conflicting interpretations #

Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_000401.3(EXT2):c.1064G>A (p.Arg355His) rs149727518
NM_000401.3(EXT2):c.110C>T (p.Ser37Leu) rs527624522
NM_000401.3(EXT2):c.1116T>C (p.Cys372=) rs11828047
NM_000401.3(EXT2):c.1118T>A (p.Val373Asp) rs371996957
NM_000401.3(EXT2):c.1121C>T (p.Pro374Leu) rs141035971
NM_000401.3(EXT2):c.1186G>A (p.Val396Met) rs138943091
NM_000401.3(EXT2):c.1277G>A (p.Arg426Gln) rs138187791
NM_000401.3(EXT2):c.1492C>T (p.Arg498Ter) rs772690312
NM_000401.3(EXT2):c.1633G>T (p.Val545Leu) rs147753803
NM_000401.3(EXT2):c.1687G>A (p.Glu563Lys) rs148711133
NM_000401.3(EXT2):c.1744C>T (p.Leu582=) rs142565472
NM_000401.3(EXT2):c.1859C>T (p.Thr620Met) rs138495222
NM_000401.3(EXT2):c.1860G>A (p.Thr620=) rs16937864
NM_000401.3(EXT2):c.2015C>T (p.Thr672Met) rs138722406
NM_000401.3(EXT2):c.223A>G (p.Met75Val) rs4755779
NM_000401.3(EXT2):c.344A>C (p.Asp115Ala) rs534539796
NM_000401.3(EXT2):c.359T>G (p.Met120Arg) rs140075817
NM_000401.3(EXT2):c.383G>A (p.Arg128His) rs143703574
NM_000401.3(EXT2):c.619A>C (p.Met207Leu) rs111589746
NM_000401.3(EXT2):c.809C>T (p.Ser270Leu) rs139525250
NM_000401.3(EXT2):c.843-10T>G rs200943294
NM_000401.3(EXT2):c.995G>A (p.Arg332His) rs76901081
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln)
NM_207122.2(EXT2):c.605C>T (p.Ala202Val)

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