ClinVar Miner

Variants in gene JAK3 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
325 28 0 8 20 0 1 27

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.

likely pathogenic uncertain significance likely benign benign
likely pathogenic 0 1 0 0
uncertain significance 1 0 15 5
likely benign 0 15 0 8
benign 0 5 8 0

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
NM_000215.3(JAK3):c.108G>C (p.Gly36=) rs149701114
NM_000215.3(JAK3):c.114C>A (p.Pro38=) rs1448668382
NM_000215.3(JAK3):c.1551T>A (p.Pro517=) rs143936463
NM_000215.3(JAK3):c.1581G>A (p.Leu527=) rs3213408
NM_000215.3(JAK3):c.1653A>G (p.Thr551=) rs201698409
NM_000215.3(JAK3):c.1843C>T (p.Arg615Cys) rs200075643
NM_000215.3(JAK3):c.187A>G (p.Ile63Val) rs144405201
NM_000215.3(JAK3):c.1929G>A (p.Leu643=) rs138645044
NM_000215.3(JAK3):c.2079C>T (p.Pro693=) rs145377049
NM_000215.3(JAK3):c.2152G>C (p.Val718Leu) rs146837396
NM_000215.3(JAK3):c.2164G>A (p.Val722Ile) rs3213409
NM_000215.3(JAK3):c.2235G>A (p.Pro745=) rs149207170
NM_000215.3(JAK3):c.2350+7G>A rs200658439
NM_000215.3(JAK3):c.2391A>G (p.Ala797=) rs199910484
NM_000215.3(JAK3):c.2451C>T (p.Phe817=) rs201576913
NM_000215.3(JAK3):c.252G>A (p.Pro84=) rs139738701
NM_000215.3(JAK3):c.2681-11G>T rs201970522
NM_000215.3(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000215.3(JAK3):c.3213C>T (p.His1071=) rs757910571
NM_000215.3(JAK3):c.3267C>T (p.Ser1089=) rs138593705
NM_000215.3(JAK3):c.3300C>T (p.Ser1100=) rs201073968
NM_000215.3(JAK3):c.394C>A (p.Pro132Thr) rs3212723
NM_000215.3(JAK3):c.631A>C (p.Arg211=) rs56269787
NM_000215.3(JAK3):c.649G>A (p.Val217Met) rs202167678
NM_000215.3(JAK3):c.696C>T (p.His232=) rs199902822
NM_000215.3(JAK3):c.938G>A (p.Gly313Glu) rs200319694
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg) rs55778349

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