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 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
198 26 0 12 5 0 1 17

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 5 0 0 0
likely pathogenic 5 0 1 0 0
uncertain significance 0 1 0 5 1
likely benign 0 0 5 0 7
benign 0 0 1 7 0

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_001396.3(DYRK1A):c.1400G>A (p.Arg467Gln) rs797045041
NM_001396.3(DYRK1A):c.1639C>T (p.Gln547Ter) rs869312708
NM_001396.3(DYRK1A):c.2035G>C (p.Ala679Pro) rs55720916
NM_001396.3(DYRK1A):c.516+9A>G rs187936450
NM_001396.3(DYRK1A):c.734T>G (p.Leu245Arg) rs797044525
NM_001396.3(DYRK1A):c.883C>T (p.Leu295Phe) rs797044526
NM_001396.4(DYRK1A):c.1240-7C>T rs199867876
NM_001396.4(DYRK1A):c.1566C>T (p.Ser522=) rs113110833
NM_001396.4(DYRK1A):c.1657A>G (p.Thr553Ala) rs759183785
NM_001396.4(DYRK1A):c.1762A>C (p.Thr588Pro) rs149948846
NM_001396.4(DYRK1A):c.208-13C>G rs140466090
NM_001396.4(DYRK1A):c.2251A>T (p.Thr751Ser) rs147973077
NM_001396.4(DYRK1A):c.831G>A (p.Ala277=) rs138086853
NM_001396.4(DYRK1A):c.845G>A (p.Ser282Asn) rs758888181
NM_001396.4(DYRK1A):c.932C>T (p.Ser311Phe) rs1039571136
NM_001396.4(DYRK1A):c.951+4_951+7delAGTA rs1555984461
NM_101395.2(DYRK1A):c.208-1G>A rs552103257

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