ClinVar Miner

Variants in gene TYR 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 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
126 36 2 18 2 2 5 22

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 association risk factor other
pathogenic 0 17 2 1 1 1 1 1
likely pathogenic 17 0 4 1 1 1 1 1
uncertain significance 2 4 0 2 2 2 1 1
likely benign 1 1 2 0 2 2 1 1
benign 1 1 2 2 2 2 1 1
association 1 1 2 2 2 0 1 1
risk factor 1 1 1 1 1 1 0 1
other 1 1 1 1 1 1 1 0

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_000372.5(TYR):c.1037-7T>A rs61754381
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) rs62645917
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser) rs104894316
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180
NM_000372.5(TYR):c.164G>C (p.Cys55Ser) rs28940879
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797

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