ClinVar Miner

Variants in gene ENG 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 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
210 62 0 19 4 0 2 23

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 2 0 0
likely pathogenic 3 0 0 0 0
uncertain significance 2 0 0 4 2
likely benign 0 0 4 0 16
benign 0 0 2 16 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_000118.3(ENG):c.1029C>T (p.Thr343=) rs3739817
NM_000118.3(ENG):c.1060C>T (p.Leu354=) rs36092484
NM_000118.3(ENG):c.1096G>C (p.Asp366His) rs1800956
NM_000118.3(ENG):c.120C>T (p.Gly40=) rs41522944
NM_000118.3(ENG):c.14C>T (p.Thr5Met) rs35400405
NM_000118.3(ENG):c.159C>T (p.Cys53=) rs148475405
NM_000118.3(ENG):c.1794T>C (p.Gly598=) rs41358947
NM_000118.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300
NM_000118.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_000118.3(ENG):c.207G>A (p.Leu69=) rs11545664
NM_000118.3(ENG):c.219+22C>T rs370257876
NM_000118.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_000118.3(ENG):c.392C>T (p.Pro131Leu) rs139398993
NM_000118.3(ENG):c.524-15C>T rs201463582
NM_000118.3(ENG):c.572G>A (p.Gly191Asp) rs41322046
NM_000118.3(ENG):c.596G>A (p.Arg199His) rs548424658
NM_000118.3(ENG):c.617G>C (p.Gly206Ala) rs201393380
NM_000118.3(ENG):c.640G>A (p.Gly214Ser) rs150932144
NM_000118.3(ENG):c.68-1G>A rs878853659
NM_000118.3(ENG):c.732C>T (p.Pro244=) rs112262663
NM_000118.3(ENG):c.788T>A (p.Ile263Asn) rs1085307431
NM_000118.3(ENG):c.909C>T (p.Ala303=) rs200306464
NM_001114753.2(ENG):c.1932C>T (p.Ile644=) rs181330955

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