ClinVar Miner

Variants in gene ETHE1 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 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
119 14 0 5 8 0 1 14

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 3 0 0 0
likely pathogenic 3 0 1 0 0
uncertain significance 0 1 0 6 2
likely benign 0 0 6 0 2
benign 0 0 2 2 0

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_014297.5(ETHE1):c.-45G>A rs144136377
NM_014297.5(ETHE1):c.-47C>T rs368890798
NM_014297.5(ETHE1):c.150G>C (p.Leu50=) rs142193567
NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr) rs138958351
NM_014297.5(ETHE1):c.227-9C>G rs199921503
NM_014297.5(ETHE1):c.375+7T>C rs752466453
NM_014297.5(ETHE1):c.378G>T (p.Ala126=) rs138427304
NM_014297.5(ETHE1):c.476G>A (p.Arg159His) rs768669208
NM_014297.5(ETHE1):c.482G>A (p.Cys161Tyr) rs1555762722
NM_014297.5(ETHE1):c.489G>A (p.Arg163=) rs533076307
NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn) rs763799125
NM_014297.5(ETHE1):c.592dup (p.His198fs) rs1555762070
NM_014297.5(ETHE1):c.61G>T (p.Ala21Ser) rs116440799
NM_014297.5(ETHE1):c.9G>A (p.Glu3=) rs773937760

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