ClinVar Miner

Variants in gene CNTNAP2 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
959 85 0 41 50 1 1 74

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 association drug response protective other
uncertain significance 1 1 0 45 23 1 1 1 1
likely benign 0 0 44 0 41 0 0 0 0
benign 0 0 22 41 0 0 0 0 0

All variants with conflicting interpretations #

Total variants: 74
Download table as spreadsheet
HGVS dbSNP
NM_014141.6(CNTNAP2):c.1032C>T (p.Gly344=) rs142122012
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845
NM_014141.6(CNTNAP2):c.1137C>T (p.Asn379=) rs78543192
NM_014141.6(CNTNAP2):c.1140T>A (p.Ala380=) rs141439475
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser) rs143877693
NM_014141.6(CNTNAP2):c.1247C>T (p.Ala416Val) rs34456867
NM_014141.6(CNTNAP2):c.1308C>T (p.Asn436=) rs79039458
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=) rs56356283
NM_014141.6(CNTNAP2):c.1455T>C (p.Asn485=) rs370095062
NM_014141.6(CNTNAP2):c.1566G>A (p.Gln522=) rs535454043
NM_014141.6(CNTNAP2):c.1581C>T (p.Asp527=) rs774328147
NM_014141.6(CNTNAP2):c.1623G>A (p.Pro541=)
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169
NM_014141.6(CNTNAP2):c.1777+10A>G rs2286127
NM_014141.6(CNTNAP2):c.1777+7G>A rs770951811
NM_014141.6(CNTNAP2):c.1854C>T (p.Gly618=) rs61732849
NM_014141.6(CNTNAP2):c.1898-9T>C rs372830287
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565
NM_014141.6(CNTNAP2):c.2136C>T (p.Asn712=) rs187552025
NM_014141.6(CNTNAP2):c.2190C>T (p.Cys730=) rs74354654
NM_014141.6(CNTNAP2):c.2256-6A>T rs10240482
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503
NM_014141.6(CNTNAP2):c.2292C>T (p.His764=) rs143286960
NM_014141.6(CNTNAP2):c.2340A>G (p.Ser780=) rs778124698
NM_014141.6(CNTNAP2):c.237C>T (p.Ser79=) rs145162968
NM_014141.6(CNTNAP2):c.2460C>T (p.Ser820=) rs144496909
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=) rs149185385
NM_014141.6(CNTNAP2):c.2606T>C (p.Ile869Thr) rs121908445
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala) rs138481453
NM_014141.6(CNTNAP2):c.2651G>A (p.Arg884Gln) rs758630057
NM_014141.6(CNTNAP2):c.273T>C (p.Asn91=) rs773595457
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=) rs148104020
NM_014141.6(CNTNAP2):c.2895C>A (p.Gly965=) rs75688908
NM_014141.6(CNTNAP2):c.3105C>T (p.Asn1035=) rs112483670
NM_014141.6(CNTNAP2):c.3111C>T (p.Pro1037=) rs368108883
NM_014141.6(CNTNAP2):c.3132G>A (p.Pro1044=) rs761663690
NM_014141.6(CNTNAP2):c.3174C>G (p.Thr1058=) rs143226012
NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=) rs61732853
NM_014141.6(CNTNAP2):c.3248-4A>G rs3779031
NM_014141.6(CNTNAP2):c.3402G>A (p.Val1134=) rs727503877
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449
NM_014141.6(CNTNAP2):c.354C>T (p.Ser118=) rs141831869
NM_014141.6(CNTNAP2):c.3585G>A (p.Arg1195=) rs77789547
NM_014141.6(CNTNAP2):c.3600G>A (p.Ser1200=) rs117876038
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=) rs138477292
NM_014141.6(CNTNAP2):c.3654G>A (p.Pro1218=) rs141764220
NM_014141.6(CNTNAP2):c.3675G>A (p.Ser1225=) rs142331907
NM_014141.6(CNTNAP2):c.3678C>T (p.Ser1226=) rs201219937
NM_014141.6(CNTNAP2):c.3716-17TCTT[3] rs142426153
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691
NM_014141.6(CNTNAP2):c.3741A>C (p.Pro1247=) rs141772824
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr) rs767821521
NM_014141.6(CNTNAP2):c.3797-5G>A rs745770134
NM_014141.6(CNTNAP2):c.3797-6C>T rs79777576
NM_014141.6(CNTNAP2):c.387A>G (p.Gln129=) rs150607716
NM_014141.6(CNTNAP2):c.3927C>T (p.Ala1309=) rs143856702
NM_014141.6(CNTNAP2):c.3968A>C (p.Asp1323Ala) rs142434274
NM_014141.6(CNTNAP2):c.402+8A>G rs201311931
NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr) rs201326295
NM_014141.6(CNTNAP2):c.550+10G>A rs776175685
NM_014141.6(CNTNAP2):c.551-11T>G rs78223661
NM_014141.6(CNTNAP2):c.561T>C (p.Val187=) rs201200400
NM_014141.6(CNTNAP2):c.645C>T (p.Asn215=) rs776956365
NM_014141.6(CNTNAP2):c.681C>T (p.His227=) rs142984073
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346
NM_014141.6(CNTNAP2):c.834T>C (p.Ser278=) rs61732854
NM_014141.6(CNTNAP2):c.837G>A (p.Val279=) rs143507886
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383
NM_014141.6(CNTNAP2):c.87C>T (p.Pro29=) rs886062049
NM_014141.6(CNTNAP2):c.939+8T>A rs199994339
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.