ClinVar Miner

Variants in gene GLI2 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
306 16 0 13 7 0 3 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 uncertain significance likely benign benign
pathogenic 0 1 2 1
uncertain significance 1 0 6 1
likely benign 2 6 0 13
benign 1 1 13 0

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_001374353.1(GLI2):c.1080G>A (p.Ser360=) rs149110951
NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys) rs200076785
NM_001374353.1(GLI2):c.1481C>T (p.Ser494Leu) rs372925840
NM_001374353.1(GLI2):c.1710G>A (p.Thr570=) rs61732852
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met) rs142775128
NM_001374353.1(GLI2):c.1834G>A (p.Glu612Lys) rs387907277
NM_001374353.1(GLI2):c.1935G>A (p.Ser645=) rs114259687
NM_001374353.1(GLI2):c.2037A>G (p.Ala679=) rs146059306
NM_001374353.1(GLI2):c.2939C>G (p.Pro980Arg) rs563818052
NM_001374353.1(GLI2):c.305G>A (p.Arg102Gln) rs148442092
NM_001374353.1(GLI2):c.3298G>T (p.Val1100Leu) rs147580961
NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp) rs114823319
NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser) rs114376238
NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val) rs149140724
NM_001374353.1(GLI2):c.4446T>C (p.Thr1482=) rs151090814
NM_001374353.1(GLI2):c.4506C>T (p.Gly1502=) rs200499325
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747
NM_001374353.1(GLI2):c.4530T>C (p.Gly1510=) rs144700510
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453
NM_001374353.1(GLI2):c.4678G>A (p.Glu1560Lys) rs770936696
NM_001374353.1(GLI2):c.803C>T (p.Ala268Val) rs146992756

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