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 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
347 44 0 5 12 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 uncertain significance likely benign benign
pathogenic 0 0 1 1
uncertain significance 0 0 10 2
likely benign 1 10 0 5
benign 1 2 5 0

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_003331.5(TYK2):c.1141C>T (p.Arg381Trp) rs201240289
NM_003331.5(TYK2):c.1254G>A (p.Ser418=)
NM_003331.5(TYK2):c.1869C>T (p.Asp623=) rs140078545
NM_003331.5(TYK2):c.2102G>C (p.Arg701Thr) rs200791116
NM_003331.5(TYK2):c.2176-9C>T
NM_003331.5(TYK2):c.2250C>T (p.Gly750=) rs138652649
NM_003331.5(TYK2):c.2646G>C (p.Pro882=) rs184567726
NM_003331.5(TYK2):c.2670G>C (p.Thr890=) rs144332908
NM_003331.5(TYK2):c.2783C>T (p.Ala928Val) rs35018800
NM_003331.5(TYK2):c.2985C>T (p.Ile995=) rs147442318
NM_003331.5(TYK2):c.3200+3G>A rs143533630
NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala) rs34536443
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.648G>A (p.Pro216=) rs142642403
NM_003331.5(TYK2):c.783C>G (p.Ala261=) rs371939297
NM_003331.5(TYK2):c.879C>T (p.Ile293=) rs375414145

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