ClinVar Miner

Variants in gene TGM6 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
159 17 0 10 4 0 2 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 0 0
likely pathogenic 0 0 1 0 0
uncertain significance 1 1 0 4 0
likely benign 0 0 4 0 10
benign 0 0 0 10 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_198994.3(TGM6):c.1011G>A (p.Glu337=) rs142832802
NM_198994.3(TGM6):c.1025G>A (p.Arg342Gln) rs201645096
NM_198994.3(TGM6):c.115A>T (p.Ser39Cys) rs144201778
NM_198994.3(TGM6):c.1216G>A (p.Glu406Lys) rs144338465
NM_198994.3(TGM6):c.1430_1439del (p.Gly477fs) rs760886419
NM_198994.3(TGM6):c.1431G>A (p.Gly477=) rs373549904
NM_198994.3(TGM6):c.146A>T (p.Asp49Val) rs12106280
NM_198994.3(TGM6):c.1476G>A (p.Lys492=) rs2295077
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp) rs387907097
NM_198994.3(TGM6):c.172A>G (p.Met58Val) rs2076405
NM_198994.3(TGM6):c.1953_1955dup (p.Gln652dup) rs557817405
NM_198994.3(TGM6):c.1968C>T (p.Asp656=) rs141258102
NM_198994.3(TGM6):c.2078A>G (p.Asp693Gly) rs377479985
NM_198994.3(TGM6):c.502G>A (p.Val168Met) rs147494925
NM_198994.3(TGM6):c.940G>A (p.Val314Met) rs202184911
NM_198994.3(TGM6):c.956G>A (p.Arg319Gln) rs148376598

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