ClinVar Miner

Variants with conflicting interpretations studied for Alexander Disease

Coded as:
Minimum review status of the submission for Alexander Disease: Y axis collection method of the submission for Alexander Disease:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
64 82 0 17 2 0 2 20

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.

All conditions
Alexander Disease pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 2 0 0
uncertain significance 1 0 0 0 0
likely benign 0 0 2 0 9
benign 0 0 0 7 0

Condition to condition summary #

Total conditions: 4
Download table as spreadsheet
Condition 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
not provided 0 81 0 9 2 0 0 10
Primary ciliary dyskinesia 0 0 0 7 0 0 0 7
not specified 0 2 0 1 0 0 1 2
Alexander Disease 150 15 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_001131019.2(GFAP):c.1289G>A (p.Arg430His) rs748860341
NM_002055.4(GFAP):c.*1001G>A rs1042329
NM_002055.4(GFAP):c.*1074C>T rs117405516
NM_002055.4(GFAP):c.*1522T>C rs17027
NM_002055.4(GFAP):c.*1620C>T rs7049
NM_002055.4(GFAP):c.*16G>A rs113487550
NM_002055.4(GFAP):c.*28C>G rs11558961
NM_002055.4(GFAP):c.*338C>T rs8067254
NM_002055.4(GFAP):c.*814T>A rs3744470
NM_002055.4(GFAP):c.140C>T (p.Pro47Leu) rs57474185
NM_002055.4(GFAP):c.462-8dupC rs572562362
NM_002055.4(GFAP):c.469G>A (p.Asp157Asn) rs59291670
NM_002055.4(GFAP):c.619-9C>G rs3744469
NM_002055.4(GFAP):c.675C>T (p.Asp225=) rs146443487
NM_002055.4(GFAP):c.715C>G (p.Arg239Gly) rs58064122
NM_002055.4(GFAP):c.738G>A (p.Ala246=) rs147404772
NM_002055.4(GFAP):c.848A>G (p.Asn283Ser) rs201382676
NM_002055.4(GFAP):c.934G>T (p.Glu312Ter) rs763868966
NM_002055.4(GFAP):c.957G>A (p.Arg319=) rs61733890
NM_002055.4(GFAP):c.96T>C (p.Gly32=) rs60045579

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