ClinVar Miner

Variants in gene DYRK1A 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
406 25 0 6 5 0 1 12

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

All variants with conflicting interpretations #

Total variants: 12
Download table as spreadsheet
NM_001347721.2(DYRK1A):c.1509G>A (p.Ser503=) rs763907769
NM_001347721.2(DYRK1A):c.1762G>A (p.Ala588Thr) rs200808105
NM_001347721.2(DYRK1A):c.1803CCA[7] (p.His609_His610dup) rs760576043
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro) rs55720916
NM_001347721.2(DYRK1A):c.208-28G>A rs552103257
NM_001347721.2(DYRK1A):c.208-40C>G rs140466090
NM_001347721.2(DYRK1A):c.300+7C>T rs537532878
NM_001347721.2(DYRK1A):c.489+9A>G rs187936450
NM_001347721.2(DYRK1A):c.638-9_638-5del rs1555984064
NM_001347721.2(DYRK1A):c.707T>G (p.Leu236Arg) rs797044525
NM_001347721.2(DYRK1A):c.804G>A (p.Ala268=) rs138086853
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461

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