ClinVar Miner

Variants in gene TGM1 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
114 13 0 24 1 0 7 31

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 21 4 2 1
likely pathogenic 21 0 1 0 0
uncertain significance 4 1 0 1 0
likely benign 2 0 1 0 3
benign 1 0 0 3 0

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP
NM_000359.2(TGM1):c.1075G>A (p.Val359Met) rs202037016
NM_000359.2(TGM1):c.1146C>A (p.Gly382=) rs1126432
NM_000359.2(TGM1):c.1166G>A (p.Arg389His) rs121918723
NM_000359.2(TGM1):c.1187G>A (p.Arg396His) rs121918721
NM_000359.2(TGM1):c.1187G>T (p.Arg396Leu) rs121918721
NM_000359.2(TGM1):c.1223_1227delACACA (p.Asp408Valfs) rs398122905
NM_000359.2(TGM1):c.125C>A (p.Ser42Tyr) rs41295338
NM_000359.2(TGM1):c.132G>A (p.Trp44Ter) rs886039654
NM_000359.2(TGM1):c.1417G>A (p.Gly473Ser) rs904122716
NM_000359.2(TGM1):c.1469A>G (p.Asp490Gly) rs121918724
NM_000359.2(TGM1):c.1552G>A (p.Val518Met) rs35312232
NM_000359.2(TGM1):c.1559A>G (p.Glu520Gly) rs142404759
NM_000359.2(TGM1):c.1744C>T (p.Gln582Ter) rs397514522
NM_000359.2(TGM1):c.184G>T (p.Gly62Ter) rs886041950
NM_000359.2(TGM1):c.281G>A (p.Gly94Asp) rs121918729
NM_000359.2(TGM1):c.376C>T (p.Arg126Cys) rs397514524
NM_000359.2(TGM1):c.377G>A (p.Arg126His) rs200491579
NM_000359.2(TGM1):c.379C>T (p.Arg127Ter) rs886041250
NM_000359.2(TGM1):c.424C>T (p.Arg142Cys) rs121918716
NM_000359.2(TGM1):c.428G>A (p.Arg143His) rs121918719
NM_000359.2(TGM1):c.652G>A (p.Gly218Ser) rs121918732
NM_000359.2(TGM1):c.726G>A (p.Glu242=) rs35755034
NM_000359.2(TGM1):c.790C>T (p.Arg264Trp) rs201868387
NM_000359.2(TGM1):c.832G>A (p.Gly278Arg) rs121918725
NM_000359.2(TGM1):c.872G>A (p.Gly291Asp) rs780990272
NM_000359.2(TGM1):c.876+2T>C rs151054393
NM_000359.2(TGM1):c.919C>T (p.Arg307Trp) rs121918731
NM_000359.2(TGM1):c.943C>T (p.Arg315Cys) rs397514525
NM_000359.2(TGM1):c.944G>T (p.Arg315Leu) rs143473912
NM_000359.2(TGM1):c.967C>T (p.Arg323Trp) rs771820315
NM_000359.2(TGM1):c.968G>A (p.Arg323Gln) rs121918717

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