ClinVar Miner

Variants in gene CEP135 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
59 3 0 7 7 0 0 13

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 5 3
likely benign 5 0 7
benign 3 7 0

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_025009.5(CEP135):c.1220G>A (p.Ser407Asn) rs62641664
NM_025009.5(CEP135):c.1254A>G (p.Arg418=) rs62641662
NM_025009.5(CEP135):c.142C>T (p.Arg48Trp) rs202084972
NM_025009.5(CEP135):c.1740A>G (p.Arg580=) rs59759676
NM_025009.5(CEP135):c.2305A>C (p.Ile769Leu) rs3214045
NM_025009.5(CEP135):c.2724A>G (p.Arg908=) rs113687114
NM_025009.5(CEP135):c.2755A>C (p.Arg919=) rs151170797
NM_025009.5(CEP135):c.2767G>A (p.Glu923Lys) rs145959811
NM_025009.5(CEP135):c.2990C>T (p.Ser997Leu) rs146076380
NM_025009.5(CEP135):c.3265T>A (p.Leu1089Ile) rs76659072
NM_025009.5(CEP135):c.638T>C (p.Val213Ala) rs150331261
NM_025009.5(CEP135):c.700-10A>G rs369136062
NM_025009.5(CEP135):c.998AAG[2] (p.Glu335del) rs374626758

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