ClinVar Miner

Variants in gene CERKL 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
235 19 0 6 9 0 2 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 likely pathogenic uncertain significance likely benign benign
pathogenic 0 4 2 0 0
likely pathogenic 4 0 0 0 0
uncertain significance 2 0 0 6 3
likely benign 0 0 6 0 2
benign 0 0 3 2 0

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
NM_201548.4(CERKL):c.769C>T rs121909398
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter) rs1187839124
NM_201548.5(CERKL):c.132G>C (p.Glu44Asp) rs727503857
NM_201548.5(CERKL):c.1523C>T (p.Ser508Leu) rs146913105
NM_201548.5(CERKL):c.157G>A (p.Glu53Lys) rs141389059
NM_201548.5(CERKL):c.239-12dup rs201864646
NM_201548.5(CERKL):c.27G>A (p.Arg9=) rs368855330
NM_201548.5(CERKL):c.313C>T (p.Arg105Trp) rs149078111
NM_201548.5(CERKL):c.481+2T>G rs753994107
NM_201548.5(CERKL):c.589G>T (p.Ala197Ser) rs151110889
NM_201548.5(CERKL):c.60G>A (p.Glu20=) rs556744419
NM_201548.5(CERKL):c.735G>C (p.Leu245=) rs140898616
NM_201548.5(CERKL):c.812T>C (p.Ile271Thr) rs786205545
NM_201548.5(CERKL):c.820+9G>A rs189638090
NM_201548.5(CERKL):c.900T>C (p.His300=) rs183252158
NM_201548.5(CERKL):c.950G>A (p.Arg317His)
NM_201548.5(CERKL):c.967_968del (p.Met323fs) rs750151209

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