ClinVar Miner

Variants in gene GFAP with conflicting interpretations

See also:
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
108 84 0 10 2 0 2 13

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 2 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 2 0 0 2 1
likely benign 0 0 2 0 9
benign 0 0 1 9 0

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_002055.5(GFAP):c.*16G>A rs113487550
NM_002055.5(GFAP):c.1171+472G>A rs748860341
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185
NM_002055.5(GFAP):c.462-13dup rs572562362
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) rs59291670
NM_002055.5(GFAP):c.619-9C>G rs3744469
NM_002055.5(GFAP):c.675C>T (p.Asp225=) rs146443487
NM_002055.5(GFAP):c.715C>G (p.Arg239Gly) rs58064122
NM_002055.5(GFAP):c.738G>A (p.Ala246=) rs147404772
NM_002055.5(GFAP):c.848A>G (p.Asn283Ser) rs201382676
NM_002055.5(GFAP):c.934G>T (p.Glu312Ter) rs763868966
NM_002055.5(GFAP):c.957G>A (p.Arg319=) rs61733890
NM_002055.5(GFAP):c.96T>C (p.Gly32=) rs60045579

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