ClinVar Miner

Variants in gene CENPJ with conflicting interpretations

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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
332 52 0 18 13 0 3 29

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 4 3 0 0
likely pathogenic 4 0 1 0 0
uncertain significance 3 1 0 12 3
likely benign 0 0 12 0 14
benign 0 0 3 14 0

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala) rs17081389 0.02639
NM_018451.5(CENPJ):c.187G>C (p.Asp63His) rs7336216 0.02151
NM_018451.5(CENPJ):c.287A>G (p.His96Arg) rs61739263 0.01206
NM_018451.5(CENPJ):c.1233G>A (p.Pro411=) rs112133852 0.00368
NM_018451.5(CENPJ):c.1021T>G (p.Tyr341Asp) rs143258862 0.00170
NM_018451.5(CENPJ):c.175A>G (p.Thr59Ala) rs138732534 0.00157
NM_018451.5(CENPJ):c.646T>C (p.Cys216Arg) rs143260721 0.00148
NM_018451.5(CENPJ):c.656C>T (p.Pro219Leu) rs139844197 0.00140
NM_018451.5(CENPJ):c.2806A>G (p.Ser936Gly) rs75008861 0.00070
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met) rs144938364 0.00056
NM_018451.5(CENPJ):c.763A>G (p.Thr255Ala) rs150932292 0.00053
NM_018451.5(CENPJ):c.2432T>A (p.Val811Asp) rs151299406 0.00050
NM_018451.5(CENPJ):c.1513G>A (p.Glu505Lys) rs145679691 0.00036
NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter) rs202058504 0.00029
NM_018451.5(CENPJ):c.2852A>G (p.Gln951Arg) rs138675304 0.00021
NM_018451.5(CENPJ):c.1430C>T (p.Thr477Met) rs193181742 0.00014
NM_018451.5(CENPJ):c.2500C>T (p.Leu834=) rs148738982 0.00014
NM_018451.5(CENPJ):c.622A>G (p.Thr208Ala) rs199925549 0.00011
NM_018451.5(CENPJ):c.634G>T (p.Glu212Ter) rs765113367 0.00011
NM_018451.5(CENPJ):c.865+12dup rs202014808 0.00004
NM_018451.5(CENPJ):c.2704C>T (p.Arg902Ter) rs374057641 0.00003
NM_018451.5(CENPJ):c.1371G>A (p.Pro457=) rs770254231 0.00001
NM_018451.5(CENPJ):c.2457T>C (p.Tyr819=) rs780573822 0.00001
NM_018451.5(CENPJ):c.810A>G (p.Gln270=) rs572213217 0.00001
NM_018451.5(CENPJ):c.1908C>G (p.Arg636=) rs61743613
NM_018451.5(CENPJ):c.2872C>T (p.Arg958Ter) rs749343808
NM_018451.5(CENPJ):c.2992-17dup rs35599563
NM_018451.5(CENPJ):c.2992-18_2992-17del rs151246139
NM_018451.5(CENPJ):c.2992-6del rs35599563

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