ClinVar Miner

Variants in gene CYP2D6 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 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
198 1 0 0 0 18 0 18

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 drug response protective other
likely benign 0 0 0 0 0 12 0 12
benign 0 0 0 0 0 0 0 1
drug response 0 0 0 12 0 0 0 8
other 1 1 1 13 2 9 1 0

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
CYP2D6*10 rs1065852
CYP2D6*17 rs28371706
CYP2D6*4 rs3892097
CYP2D6*41 rs28371725
CYP2D6*6 rs5030655
NM_000106.5(CYP2D6):c.*264G>A (p.Gly169Arg) rs5030865
NM_000106.5(CYP2D6):c.124G>A (p.Gly42Arg) rs5030862
NM_000106.5(CYP2D6):c.505G>T (p.Gly169Ter) rs5030865
NM_000106.5(CYP2D6):c.775delA (p.Arg259Glyfs) rs35742686
NM_000106.5(CYP2D6):c.841_843delAAG (p.Lys281del) rs5030656
NM_000106.5(CYP2D6):c.971A>C (p.His324Pro) rs5030867
NM_000106.6(CYP2D6):c.1012G>A (p.Val338Met) rs59421388
NM_000106.6(CYP2D6):c.1457= (p.Ser486=) rs1135840
NM_000106.6(CYP2D6):c.1457G>C (p.Ser486Thr) rs1135840
NM_000106.6(CYP2D6):c.31G>A (p.Val11Met) rs769258
NM_000106.6(CYP2D6):c.709G>T (p.Ala237Ser) rs28371717
NM_000106.6(CYP2D6):c.886= (p.Arg296=) rs16947
Single allele

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