ClinVar Miner

Variants in gene TYK2 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
158 19 0 18 3 0 0 20

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.

uncertain significance likely benign benign
uncertain significance 0 2 2
likely benign 2 0 18
benign 2 18 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
NM_003331.5(TYK2):c.1087G>A (p.Gly363Ser) rs2304255
NM_003331.5(TYK2):c.114C>A (p.Gly38=) rs56295652
NM_003331.5(TYK2):c.1774-4G>C rs280518
NM_003331.5(TYK2):c.1848T>G (p.Pro616=) rs12720276
NM_003331.5(TYK2):c.193+14G>A rs199931972
NM_003331.5(TYK2):c.2051T>G (p.Ile684Ser) rs12720356
NM_003331.5(TYK2):c.2107C>T (p.Arg703Trp) rs55882956
NM_003331.5(TYK2):c.2250C>T (p.Gly750=) rs138652649
NM_003331.5(TYK2):c.2311+11G>C rs12720299
NM_003331.5(TYK2):c.2459C>A (p.Pro820His) rs34046749
NM_003331.5(TYK2):c.2716-10T>G rs12720319
NM_003331.5(TYK2):c.2783C>T (p.Ala928Val) rs35018800
NM_003331.5(TYK2):c.3201-8C>T rs2304252
NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala) rs34536443
NM_003331.5(TYK2):c.3330G>A (p.Glu1110=) rs114073289
NM_003331.5(TYK2):c.44T>C (p.Val15Ala) rs144960992
NM_003331.5(TYK2):c.513G>A (p.Ser171=) rs55988893
NM_003331.5(TYK2):c.516C>T (p.Thr172=) rs280523
NM_003331.5(TYK2):c.590G>A (p.Arg197His) rs12720263
NM_003331.5(TYK2):c.942C>T (p.His314=) rs12720266

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