ClinVar Miner

Variants in gene JUP 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
176 96 2 29 19 0 2 47

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 2 0 0 0 0
likely pathogenic 0 0 2 0 0
uncertain significance 0 2 0 19 5
likely benign 0 0 19 0 29
benign 0 0 5 29 0

All variants with conflicting interpretations #

Total variants: 47
Download table as spreadsheet
HGVS dbSNP
NM_002230.2(JUP):c.1035G>C (p.Lys345Asn) rs150194093
NM_002230.2(JUP):c.1054+7A>T rs371988639
NM_002230.2(JUP):c.1055-14delT rs140002183
NM_002230.2(JUP):c.1159-13C>A rs201627219
NM_002230.2(JUP):c.116_118dupGCA (p.Ser39_Lys40insSer) rs113994176
NM_002230.2(JUP):c.1172G>A (p.Ser391Asn) rs199826380
NM_002230.2(JUP):c.1224C>T (p.Leu408=) rs2230408
NM_002230.2(JUP):c.1281G>A (p.Thr427=) rs373544304
NM_002230.2(JUP):c.1365C>T (p.Ala455=) rs77375949
NM_002230.2(JUP):c.1366G>A (p.Val456Ile) rs78437817
NM_002230.2(JUP):c.1563A>G (p.Ala521=) rs149926974
NM_002230.2(JUP):c.1710C>T (p.Leu570=) rs375801194
NM_002230.2(JUP):c.1806C>T (p.Arg602=) rs781934535
NM_002230.2(JUP):c.1807G>T (p.Val603Leu) rs200327969
NM_002230.2(JUP):c.1824G>A (p.Leu608=) rs376043057
NM_002230.2(JUP):c.1854C>T (p.Ala618=) rs782176670
NM_002230.2(JUP):c.1910G>A (p.Arg637His) rs142095597
NM_002230.2(JUP):c.1989C>T (p.Arg663=) rs145175985
NM_002230.2(JUP):c.2025T>C (p.His675=) rs140670556
NM_002230.2(JUP):c.2031G>A (p.Pro677=) rs188888662
NM_002230.2(JUP):c.2038_2039delTG (p.Trp680Glyfs) rs113994177
NM_002230.2(JUP):c.2059A>G (p.Ile687Val) rs138366708
NM_002230.2(JUP):c.2086+13C>T rs199935213
NM_002230.2(JUP):c.2089A>T (p.Met697Leu) rs1126821
NM_002230.2(JUP):c.213T>C (p.Asp71=) rs7405731
NM_002230.2(JUP):c.2178C>T (p.Ile726=) rs141295561
NM_002230.2(JUP):c.297G>A (p.Ser99=) rs200976464
NM_002230.2(JUP):c.486G>A (p.Ala162=) rs113317262
NM_002230.2(JUP):c.510G>A (p.Ser170=) rs140539043
NM_002230.2(JUP):c.546G>A (p.Ser182=) rs202038498
NM_002230.2(JUP):c.560C>T (p.Ala187Val) rs782370709
NM_002230.2(JUP):c.567C>T (p.Val189=) rs35297577
NM_002230.2(JUP):c.633C>T (p.Asn211=) rs372145644
NM_002230.2(JUP):c.708-4C>G rs201313464
NM_002230.2(JUP):c.902A>G (p.Glu301Gly) rs782058451
NM_002230.2(JUP):c.909+6C>T rs193922705
NM_002230.3(JUP):c.1507G>A (p.Gly503Ser) rs376051686
NM_021991.3(JUP):c.1377G>T (p.Leu459=) rs147370522
NM_021991.3(JUP):c.1653+10C>A rs73983658
NM_021991.3(JUP):c.1774-13C>T rs116772523
NM_021991.3(JUP):c.192G>A (p.Gly64=) rs141237794
NM_021991.3(JUP):c.1942G>A (p.Val648Ile) rs143043662
NM_021991.3(JUP):c.2047-14C>G rs116666639
NM_021991.3(JUP):c.405C>T (p.Asp135=) rs17850807
NM_021991.3(JUP):c.425G>A (p.Arg142His) rs41283425
NM_021991.3(JUP):c.773A>G (p.Glu258Gly) rs794729052
NM_021991.3(JUP):c.867C>T (p.Thr289=) rs2230407

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