ClinVar Miner

Variants in gene KCNQ2 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 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
509 88 0 56 28 0 16 92

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 21 9 2 1
likely pathogenic 21 0 8 0 0
uncertain significance 9 8 0 26 6
likely benign 2 0 26 0 35
benign 1 0 6 35 0

All variants with conflicting interpretations #

Total variants: 92
Download table as spreadsheet
HGVS dbSNP
NM_004518.5(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_172107.3(KCNQ2):c.*4G>A rs1801508
NM_172107.3(KCNQ2):c.-11C>T rs182089624
NM_172107.3(KCNQ2):c.1023+9A>G rs201787699
NM_172107.3(KCNQ2):c.1057C>T (p.Arg353Cys) rs118192218
NM_172107.3(KCNQ2):c.1058G>A (p.Arg353His) rs796052645
NM_172107.3(KCNQ2):c.1065C>T (p.Asp355=) rs200395340
NM_172107.3(KCNQ2):c.1121C>T (p.Ser374Leu) rs777940990
NM_172107.3(KCNQ2):c.1209C>T (p.Leu403=) rs752280961
NM_172107.3(KCNQ2):c.1259C>T (p.Pro420Leu) rs139164500
NM_172107.3(KCNQ2):c.1270C>T (p.Pro424Ser) rs748120886
NM_172107.3(KCNQ2):c.128C>T (p.Ala43Val) rs749554385
NM_172107.3(KCNQ2):c.1301+5C>T rs200872349
NM_172107.3(KCNQ2):c.1301+7C>T rs374877247
NM_172107.3(KCNQ2):c.1301+8G>T rs532111320
NM_172107.3(KCNQ2):c.1348G>A (p.Val450Met) rs146492238
NM_172107.3(KCNQ2):c.1407C>T (p.Ala469=) rs1801385
NM_172107.3(KCNQ2):c.1419C>T (p.Leu473=) rs370155790
NM_172107.3(KCNQ2):c.1458C>T (p.Phe486=) rs141951341
NM_172107.3(KCNQ2):c.1503C>G (p.Ala501=) rs1801545
NM_172107.3(KCNQ2):c.1503C>T (p.Ala501=) rs1801545
NM_172107.3(KCNQ2):c.1539C>T (p.Pro513=) rs376713245
NM_172107.3(KCNQ2):c.1545G>C (p.Glu515Asp) rs117067974
NM_172107.3(KCNQ2):c.1545G>T (p.Glu515Asp) rs117067974
NM_172107.3(KCNQ2):c.1602G>A (p.Pro534=) rs775089685
NM_172107.3(KCNQ2):c.1627G>A (p.Val543Met) rs794727134
NM_172107.3(KCNQ2):c.1639C>T (p.Arg547Trp) rs796052650
NM_172107.3(KCNQ2):c.1689C>T (p.Asp563=) rs35450031
NM_172107.3(KCNQ2):c.1719C>T (p.Ala573=) rs61737409
NM_172107.3(KCNQ2):c.1732A>G (p.Met578Val) rs1057516123
NM_172107.3(KCNQ2):c.1742G>A (p.Arg581Gln) rs118192235
NM_172107.3(KCNQ2):c.1814C>G (p.Thr605Ser) rs751334184
NM_172107.3(KCNQ2):c.1827C>T (p.Ala609=) rs369438374
NM_172107.3(KCNQ2):c.1833G>A (p.Ala611=) rs564630217
NM_172107.3(KCNQ2):c.1842C>T (p.Pro614=) rs552807375
NM_172107.3(KCNQ2):c.1887+5G>A rs777916008
NM_172107.3(KCNQ2):c.1A>G (p.Met1Val) rs118192185
NM_172107.3(KCNQ2):c.2031G>A (p.Arg677=) rs35647984
NM_172107.3(KCNQ2):c.2049C>T (p.His683=) rs150982653
NM_172107.3(KCNQ2):c.2052C>T (p.Gly684=) rs764444302
NM_172107.3(KCNQ2):c.2065A>C (p.Ile689Leu) rs201701585
NM_172107.3(KCNQ2):c.2087C>T (p.Thr696Met) rs570139975
NM_172107.3(KCNQ2):c.2106G>A (p.Ser702=) rs187252584
NM_172107.3(KCNQ2):c.2119G>A (p.Ala707Thr)
NM_172107.3(KCNQ2):c.2235G>A (p.Pro745=) rs139587368
NM_172107.3(KCNQ2):c.2245G>T (p.Glu749Ter) rs796052658
NM_172107.3(KCNQ2):c.2264A>G (p.Tyr755Cys) rs3746366
NM_172107.3(KCNQ2):c.2266G>A (p.Gly756Ser) rs200909197
NM_172107.3(KCNQ2):c.2280C>T (p.Arg760=) rs753696924
NM_172107.3(KCNQ2):c.2329C>T (p.Pro777Ser) rs748400155
NM_172107.3(KCNQ2):c.2330C>G (p.Pro777Arg) rs142729516
NM_172107.3(KCNQ2):c.2358G>A (p.Thr786=) rs559610397
NM_172107.3(KCNQ2):c.2385C>T (p.His795=) rs143016981
NM_172107.3(KCNQ2):c.2529C>T (p.Ser843=) rs140674819
NM_172107.3(KCNQ2):c.2544G>A (p.Pro848=) rs147274045
NM_172107.3(KCNQ2):c.2556G>A (p.Pro852=) rs3810472
NM_172107.3(KCNQ2):c.2560C>T (p.Arg854Cys) rs373536274
NM_172107.3(KCNQ2):c.2571C>T (p.Thr857=) rs764525788
NM_172107.3(KCNQ2):c.2599_2603dup (p.Arg871Glyfs) rs1555850151
NM_172107.3(KCNQ2):c.2613G>T (p.Arg871Ser) rs587780369
NM_172107.3(KCNQ2):c.303C>G (p.Leu101=) rs145415996
NM_172107.3(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.3(KCNQ2):c.387+9C>T rs751969586
NM_172107.3(KCNQ2):c.388-9C>G rs371784719
NM_172107.3(KCNQ2):c.430C>T (p.Arg144Trp) rs1555873985
NM_172107.3(KCNQ2):c.515-9G>A rs755243604
NM_172107.3(KCNQ2):c.570C>T (p.Asn190=) rs116087798
NM_172107.3(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.3(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.3(KCNQ2):c.602G>A (p.Arg201His) rs1057516085
NM_172107.3(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.3(KCNQ2):c.638G>A (p.Arg213Gln) rs397514581
NM_172107.3(KCNQ2):c.640C>T (p.Arg214Trp) rs28939684
NM_172107.3(KCNQ2):c.693G>T (p.Glu231Asp) rs797044938
NM_172107.3(KCNQ2):c.701C>T (p.Thr234Ile) rs794727741
NM_172107.3(KCNQ2):c.704C>T (p.Ala235Val) rs797045638
NM_172107.3(KCNQ2):c.740C>T (p.Ser247Leu) rs74315392
NM_172107.3(KCNQ2):c.754T>C (p.Leu252=) rs370174915
NM_172107.3(KCNQ2):c.774C>T (p.Asn258=) rs770187706
NM_172107.3(KCNQ2):c.782T>C (p.Phe261Ser) rs796052631
NM_172107.3(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_172107.3(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.3(KCNQ2):c.795G>A (p.Ala265=) rs148654588
NM_172107.3(KCNQ2):c.802C>T (p.Leu268Phe) rs1057516094
NM_172107.3(KCNQ2):c.816+9T>C rs772235691
NM_172107.3(KCNQ2):c.81G>A (p.Leu27=) rs373897282
NM_172107.3(KCNQ2):c.841G>A (p.Gly281Arg) rs794727813
NM_172107.3(KCNQ2):c.888C>T (p.Thr296=) rs370760854
NM_172107.3(KCNQ2):c.900C>T (p.Ile300=) rs764404303
NM_172107.3(KCNQ2):c.901G>A (p.Gly301Ser) rs1057516099
NM_172107.3(KCNQ2):c.917C>T (p.Ala306Val) rs864321707
NM_172107.3(KCNQ2):c.998G>A (p.Arg333Gln) rs118192216

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