ClinVar Miner

Variants in gene GATA4 with conflicting interpretations

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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
245 2 0 3 3 0 12 16

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 0 1 1 9
likely pathogenic 0 0 0 0 1
uncertain significance 1 0 0 0 3
likely benign 1 0 0 0 3
benign 9 1 3 3 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
NM_001308093.3(GATA4):c.825C>T (p.Cys275=) rs55980825
NM_002052.5(GATA4):c.*1256A>T rs12458
NM_002052.5(GATA4):c.*852G>A rs804290
NM_002052.5(GATA4):c.1037C>T (p.Ala346Val) rs115372595
NM_002052.5(GATA4):c.1129A>G (p.Ser377Gly) rs3729856
NM_002052.5(GATA4):c.1146+129C>T rs116052854
NM_002052.5(GATA4):c.1146+177C>T rs12156163
NM_002052.5(GATA4):c.1147-107A>G rs745379
NM_002052.5(GATA4):c.1273G>A (p.Asp425Asn) rs56208331
NM_002052.5(GATA4):c.487C>T (p.Pro163Ser) rs387906769
NM_002052.5(GATA4):c.617-116T>C rs3735819
NM_002052.5(GATA4):c.617-64G>C rs10503425
NM_002052.5(GATA4):c.699G>A (p.Thr233=) rs55788387
NM_002052.5(GATA4):c.732C>T (p.Tyr244=) rs146696080
NM_002052.5(GATA4):c.997+200G>A rs3729851
NM_002052.5(GATA4):c.997+56C>A rs804280

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