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 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
190 15 0 21 5 0 2 26

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 0 2 2
uncertain significance 0 0 4 1
likely benign 2 4 0 21
benign 2 1 21 0

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_005270.4(GLI2):c.1294G>A (p.Val432Met) rs142296407
NM_005270.4(GLI2):c.1761G>A (p.Thr587=) rs61732852
NM_005270.4(GLI2):c.1859C>T (p.Thr620Met) rs142775128
NM_005270.4(GLI2):c.1944C>T (p.Thr648=) rs13008360
NM_005270.4(GLI2):c.1986G>A (p.Ser662=) rs114259687
NM_005270.4(GLI2):c.2088A>G (p.Ala696=) rs146059306
NM_005270.4(GLI2):c.2708C>G (p.Thr903Ser) rs572826436
NM_005270.4(GLI2):c.2940C>T (p.Ser980=) rs146811565
NM_005270.4(GLI2):c.2990C>G (p.Pro997Arg) rs563818052
NM_005270.4(GLI2):c.3018C>T (p.Gly1006=) rs373880077
NM_005270.4(GLI2):c.3048C>T (p.Asp1016=) rs140479803
NM_005270.4(GLI2):c.3349G>T (p.Val1117Leu) rs147580961
NM_005270.4(GLI2):c.3590G>A (p.Gly1197Asp) rs114823319
NM_005270.4(GLI2):c.3882G>A (p.Thr1294=) rs115052795
NM_005270.4(GLI2):c.3943C>T (p.Pro1315Ser) rs114376238
NM_005270.4(GLI2):c.4030C>T (p.Leu1344=) rs149290823
NM_005270.4(GLI2):c.4054A>G (p.Met1352Val) rs149140724
NM_005270.4(GLI2):c.4332G>A (p.Met1444Ile) rs146467786
NM_005270.4(GLI2):c.4333C>T (p.Leu1445Phe) rs146207623
NM_005270.4(GLI2):c.4497T>C (p.Thr1499=) rs151090814
NM_005270.4(GLI2):c.4557C>T (p.Gly1519=) rs200499325
NM_005270.4(GLI2):c.4558G>A (p.Asp1520Asn) rs114814747
NM_005270.4(GLI2):c.4663T>C (p.Ser1555Pro) rs144372453
NM_005270.4(GLI2):c.720C>T (p.Asp240=) rs142793481
NM_005270.4(GLI2):c.803C>T (p.Ala268Val) rs146992756
NM_005270.4(GLI2):c.963C>G (p.Pro321=) rs149894186

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