ClinVar Miner

Variants with conflicting interpretations studied for KCNQ2-Related Disorders

Coded as:
Minimum review status of the submission for KCNQ2-Related Disorders: Y axis collection method of the submission for KCNQ2-Related Disorders:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
15 10 0 21 7 0 1 26

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.

All conditions
KCNQ2-Related Disorders pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0 0
uncertain significance 0 0 0 5 0
likely benign 1 0 2 0 18
benign 0 0 0 2 0

Condition to condition summary #

Total conditions: 7
Download table as spreadsheet
Condition 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
not specified 0 8 0 19 3 0 0 22
Early infantile epileptic encephalopathy 0 6 0 13 2 0 0 15
Seizures 0 13 0 8 0 0 0 8
not provided 0 4 0 1 2 0 0 3
Early infantile epileptic encephalopathy 7 0 0 0 1 0 0 1 2
Benign familial neonatal seizures 1 0 3 0 0 1 0 0 1
Benign familial neonatal seizures 1; Early infantile epileptic encephalopathy 7 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_172107.4(KCNQ2):c.*4G>A rs1801508
NM_172107.4(KCNQ2):c.-11C>T rs182089624
NM_172107.4(KCNQ2):c.1065C>T (p.Asp355=) rs200395340
NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met) rs146492238
NM_172107.4(KCNQ2):c.1458C>T (p.Phe486=) rs141951341
NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=) rs1801545
NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp) rs117067974
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=) rs35450031
NM_172107.4(KCNQ2):c.1719C>T (p.Ala573=) rs61737409
NM_172107.4(KCNQ2):c.1827C>T (p.Ala609=) rs369438374
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=) rs35647984
NM_172107.4(KCNQ2):c.2049C>T (p.His683=) rs150982653
NM_172107.4(KCNQ2):c.2065A>C (p.Ile689Leu) rs201701585
NM_172107.4(KCNQ2):c.2106G>A (p.Ser702=) rs187252584
NM_172107.4(KCNQ2):c.2235G>A (p.Pro745=) rs139587368
NM_172107.4(KCNQ2):c.2529C>T (p.Ser843=) rs140674819
NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=) rs147274045
NM_172107.4(KCNQ2):c.2556G>A (p.Pro852=) rs3810472
NM_172107.4(KCNQ2):c.387+9C>T rs751969586
NM_172107.4(KCNQ2):c.691-5C>T rs886056921
NM_172107.4(KCNQ2):c.754T>C (p.Leu252=) rs370174915
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.4(KCNQ2):c.816+9T>C rs772235691
NM_172107.4(KCNQ2):c.81G>A (p.Leu27=) rs373897282
NM_172107.4(KCNQ2):c.888C>T (p.Thr296=) rs370760854
NM_172107.4(KCNQ2):c.900C>T (p.Ile300=) rs764404303

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