ClinVar Miner

Variants in gene CERKL with conflicting interpretations

See also:
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
684 34 0 20 8 0 8 34

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 12 5 0 0
likely pathogenic 12 0 4 0 0
uncertain significance 5 4 0 6 3
likely benign 0 0 6 0 8
benign 0 0 3 8 0

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_201548.5(CERKL):c.1463A>G (p.Glu488Gly) rs35955809 0.01014
NM_201548.5(CERKL):c.677+566G>T rs10185262 0.00821
NM_201548.5(CERKL):c.313C>T (p.Arg105Trp) rs149078111 0.00370
NM_201548.5(CERKL):c.66C>G (p.Pro22=) rs199762900 0.00287
NM_201548.5(CERKL):c.157G>A (p.Glu53Lys) rs141389059 0.00238
NM_201548.5(CERKL):c.820+9G>A rs189638090 0.00163
NM_201548.5(CERKL):c.783T>C (p.Pro261=) rs77741297 0.00158
NM_201548.5(CERKL):c.735G>C (p.Leu245=) rs140898616 0.00093
NM_201548.5(CERKL):c.375C>G (p.Cys125Trp) rs200711686 0.00084
NM_201548.5(CERKL):c.1523C>T (p.Ser508Leu) rs146913105 0.00076
NM_201548.5(CERKL):c.589G>T (p.Ala197Ser) rs151110889 0.00053
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_201548.5(CERKL):c.102G>T (p.Thr34=) rs149346187 0.00034
NM_201548.5(CERKL):c.60G>A (p.Glu20=) rs556744419 0.00025
NM_201548.5(CERKL):c.900T>C (p.His300=) rs183252158 0.00020
NM_201548.5(CERKL):c.1160-10T>G rs771126203 0.00016
NM_201548.5(CERKL):c.950G>A (p.Arg317His) rs150587104 0.00004
NM_201548.5(CERKL):c.1315C>T (p.Arg439Trp) rs139300604 0.00002
NM_201548.5(CERKL):c.481+2T>G rs753994107 0.00002
NM_201548.5(CERKL):c.1074-1G>C rs927261937 0.00001
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter) rs1187839124 0.00001
NM_201548.5(CERKL):c.239-2A>G rs776886395 0.00001
NM_201548.5(CERKL):c.356G>A (p.Gly119Asp) rs1003615909 0.00001
NM_201548.5(CERKL):c.613+4_613+5del rs766131721 0.00001
NM_201548.5(CERKL):c.967_968del (p.Met323fs) rs750151209 0.00001
NM_201548.5(CERKL):c.1073+3_1073+6del rs1553513437
NM_201548.5(CERKL):c.112C>T (p.Gln38Ter) rs776566319
NM_201548.5(CERKL):c.132G>C (p.Glu44Asp) rs727503857
NM_201548.5(CERKL):c.239-1G>A rs1559100465
NM_201548.5(CERKL):c.239-4dup rs201864646
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser) rs569826109
NM_201548.5(CERKL):c.316C>T (p.Arg106Cys) rs569826109
NM_201548.5(CERKL):c.420del (p.Ile141fs) rs398122962
NM_201548.5(CERKL):c.812T>C (p.Ile271Thr) rs786205545

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