ClinVar Miner

Variants in gene TGM1 with conflicting interpretations

See also:
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
309 23 0 24 11 0 6 36

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 15 6 1 2
likely pathogenic 15 0 0 0 0
uncertain significance 6 0 0 8 5
likely benign 1 0 8 0 9
benign 2 0 5 9 0

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
NM_000359.3(TGM1):c.1075G>A (p.Val359Met) rs202037016
NM_000359.3(TGM1):c.1113C>T (p.Ser371=) rs61747601
NM_000359.3(TGM1):c.1166G>A (p.Arg389His) rs121918723
NM_000359.3(TGM1):c.1187G>A (p.Arg396His) rs121918721
NM_000359.3(TGM1):c.1187G>T (p.Arg396Leu) rs121918721
NM_000359.3(TGM1):c.1223_1227del (p.Asp408fs) rs398122905
NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr) rs41295338
NM_000359.3(TGM1):c.1298+9G>A rs201015655
NM_000359.3(TGM1):c.1363T>C (p.Trp455Arg) rs863223405
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly) rs121918724
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly) rs142404759
NM_000359.3(TGM1):c.167C>T (p.Ala56Val) rs147479810
NM_000359.3(TGM1):c.168G>A (p.Ala56=) rs79251149
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter) rs397514522
NM_000359.3(TGM1):c.1761C>T (p.Asp587=) rs751201972
NM_000359.3(TGM1):c.177C>T (p.Asp59=) rs8193031
NM_000359.3(TGM1):c.2405A>T (p.Asp802Val) rs2228337
NM_000359.3(TGM1):c.270T>A (p.Pro90=) rs201400055
NM_000359.3(TGM1):c.281G>A (p.Gly94Asp) rs121918729
NM_000359.3(TGM1):c.365C>T (p.Ser122Leu) rs141486741
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys) rs397514524
NM_000359.3(TGM1):c.383A>G (p.Glu128Gly) rs138592626
NM_000359.3(TGM1):c.424C>T (p.Arg142Cys) rs121918716
NM_000359.3(TGM1):c.428G>A (p.Arg143His) rs121918719
NM_000359.3(TGM1):c.429C>T (p.Arg143=) rs144989372
NM_000359.3(TGM1):c.432G>A (p.Gly144=) rs141559048
NM_000359.3(TGM1):c.61A>G (p.Thr21Ala) rs140542428
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser) rs121918732
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg) rs121918725
NM_000359.3(TGM1):c.872G>A (p.Gly291Asp) rs780990272
NM_000359.3(TGM1):c.885C>T (p.His295=) rs186352813
NM_000359.3(TGM1):c.919C>T (p.Arg307Trp) rs121918731
NM_000359.3(TGM1):c.943C>T (p.Arg315Cys) rs397514525
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln) rs121918717

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.