ClinVar Miner

Variants in gene GSDME 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
89 5 0 12 4 0 1 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.

likely pathogenic uncertain significance likely benign benign
likely pathogenic 0 1 1 0
uncertain significance 1 0 4 0
likely benign 1 4 0 12
benign 0 0 12 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_004403.3(GSDME):c.1122C>T (p.Pro374=) rs138980048
NM_004403.3(GSDME):c.1179C>T (p.Leu393=) rs368035633
NM_004403.3(GSDME):c.1183+9A>T rs397516910
NM_004403.3(GSDME):c.1199C>T (p.Ala400Val) rs71535705
NM_004403.3(GSDME):c.1200A>G (p.Ala400=) rs17149912
NM_004403.3(GSDME):c.1274_1276ATG[1] (p.Asp426del) rs374353052
NM_004403.3(GSDME):c.1334T>A (p.Phe445Tyr) rs61731036
NM_004403.3(GSDME):c.1348C>T (p.Arg450Cys) rs151328414
NM_004403.3(GSDME):c.405-15G>A rs754553
NM_004403.3(GSDME):c.424C>A (p.Pro142Thr) rs754554
NM_004403.3(GSDME):c.489G>A (p.Thr163=) rs754555
NM_004403.3(GSDME):c.577-15C>T rs11970787
NM_004403.3(GSDME):c.619G>A (p.Val207Met) rs12540919
NM_004403.3(GSDME):c.658G>A (p.Gly220Ser) rs140666247
NM_004403.3(GSDME):c.863-6T>C rs55735863
NM_004403.3(GSDME):c.864G>A (p.Ala288=) rs144358787

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