ClinVar Miner

Variants with conflicting interpretations studied for Pitt-Hopkins-like syndrome 1

Coded as:
Minimum review status of the submission for Pitt-Hopkins-like syndrome 1: Y axis collection method of the submission for Pitt-Hopkins-like syndrome 1:
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
84 188 0 44 39 1 2 66

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
Pitt-Hopkins-like syndrome 1 pathogenic uncertain significance likely benign benign risk factor
uncertain significance 2 0 13 10 0
likely benign 0 22 0 22 1
benign 0 8 27 0 0

Condition to condition summary #

Total conditions: 8
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 28 0 37 22 0 0 50
History of neurodevelopmental disorder 0 27 0 17 11 0 0 25
not provided 0 58 0 3 21 0 0 24
Pitt-Hopkins-like syndrome 0 136 0 5 7 0 0 12
Pitt-Hopkins-like syndrome 1 316 10 0 5 7 0 0 12
Autism 15; Pitt-Hopkins-like syndrome 1 0 16 0 0 3 0 0 3
Rolandic epilepsy 0 0 0 0 0 0 2 2
Autism 15 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 66
Download table as spreadsheet
HGVS dbSNP
NM_014141.5(CNTNAP2):c.-49T>G rs549396215
NM_014141.5(CNTNAP2):c.1032C>T (p.Gly344=) rs142122012
NM_014141.5(CNTNAP2):c.1083G>A (p.Val361=) rs139180845
NM_014141.5(CNTNAP2):c.1137C>T (p.Asn379=) rs78543192
NM_014141.5(CNTNAP2):c.1140T>A (p.Ala380=) rs141439475
NM_014141.5(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994
NM_014141.5(CNTNAP2):c.1220A>G (p.Asn407Ser) rs143877693
NM_014141.5(CNTNAP2):c.1247C>T (p.Ala416Val) rs34456867
NM_014141.5(CNTNAP2):c.1249G>T (p.Asp417Tyr) rs147815978
NM_014141.5(CNTNAP2):c.1308C>T (p.Asn436=) rs79039458
NM_014141.5(CNTNAP2):c.1311C>T (p.Ile437=) rs56356283
NM_014141.5(CNTNAP2):c.1455T>C (p.Asn485=) rs370095062
NM_014141.5(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169
NM_014141.5(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128
NM_014141.5(CNTNAP2):c.1777+10A>G rs2286127
NM_014141.5(CNTNAP2):c.1777+7G>A rs770951811
NM_014141.5(CNTNAP2):c.1854C>T (p.Gly618=) rs61732849
NM_014141.5(CNTNAP2):c.18C>A (p.Arg6=) rs748908765
NM_014141.5(CNTNAP2):c.2046C>T (p.Cys682=) rs201076428
NM_014141.5(CNTNAP2):c.209-11C>T rs369056998
NM_014141.5(CNTNAP2):c.2099-15T>C rs75858942
NM_014141.5(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565
NM_014141.5(CNTNAP2):c.2136C>T (p.Asn712=) rs187552025
NM_014141.5(CNTNAP2):c.2147A>G (p.Tyr716Cys) rs760930032
NM_014141.5(CNTNAP2):c.2190C>T (p.Cys730=) rs74354654
NM_014141.5(CNTNAP2):c.2256-6A>T rs10240482
NM_014141.5(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503
NM_014141.5(CNTNAP2):c.2356G>T (p.Val786Leu) rs138517537
NM_014141.5(CNTNAP2):c.2460C>T (p.Ser820=) rs144496909
NM_014141.5(CNTNAP2):c.2508T>C (p.Phe836=) rs149185385
NM_014141.5(CNTNAP2):c.2554+14G>T rs546437079
NM_014141.5(CNTNAP2):c.2606T>C (p.Ile869Thr) rs121908445
NM_014141.5(CNTNAP2):c.2609T>C (p.Val870Ala) rs138481453
NM_014141.5(CNTNAP2):c.273T>C (p.Asn91=) rs773595457
NM_014141.5(CNTNAP2):c.2892G>A (p.Ser964=) rs148104020
NM_014141.5(CNTNAP2):c.2895C>A (p.Gly965=) rs75688908
NM_014141.5(CNTNAP2):c.3010+5G>A rs373422045
NM_014141.5(CNTNAP2):c.3010+6G>A rs376708056
NM_014141.5(CNTNAP2):c.3105C>T (p.Asn1035=) rs112483670
NM_014141.5(CNTNAP2):c.3174C>G (p.Thr1058=) rs143226012
NM_014141.5(CNTNAP2):c.3180G>A (p.Ala1060=) rs372645983
NM_014141.5(CNTNAP2):c.318C>T (p.Ser106=) rs61732853
NM_014141.5(CNTNAP2):c.3247+15A>G rs201602527
NM_014141.5(CNTNAP2):c.3248-4A>G rs3779031
NM_014141.5(CNTNAP2):c.341G>A (p.Arg114Gln) rs189731792
NM_014141.5(CNTNAP2):c.3476-15C>A rs77706740
NM_014141.5(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449
NM_014141.5(CNTNAP2):c.354C>T (p.Ser118=) rs141831869
NM_014141.5(CNTNAP2):c.3585G>A (p.Arg1195=) rs77789547
NM_014141.5(CNTNAP2):c.3633G>A (p.Glu1211=) rs138477292
NM_014141.5(CNTNAP2):c.3675G>A (p.Ser1225=) rs142331907
NM_014141.5(CNTNAP2):c.3678C>T (p.Ser1226=) rs201219937
NM_014141.5(CNTNAP2):c.3716-10_3716-7dupTTCT rs142426153
NM_014141.5(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691
NM_014141.5(CNTNAP2):c.3741A>C (p.Pro1247=) rs141772824
NM_014141.5(CNTNAP2):c.3797-6C>T rs79777576
NM_014141.5(CNTNAP2):c.387A>G (p.Gln129=) rs150607716
NM_014141.5(CNTNAP2):c.3927C>T (p.Ala1309=) rs143856702
NM_014141.5(CNTNAP2):c.3968A>C (p.Asp1323Ala) rs142434274
NM_014141.5(CNTNAP2):c.402+8A>G rs201311931
NM_014141.5(CNTNAP2):c.515T>C (p.Ile172Thr) rs201326295
NM_014141.5(CNTNAP2):c.561T>C (p.Val187=) rs201200400
NM_014141.5(CNTNAP2):c.681C>T (p.His227=) rs142984073
NM_014141.5(CNTNAP2):c.834T>C (p.Ser278=) rs61732854
NM_014141.5(CNTNAP2):c.837G>A (p.Val279=) rs143507886
NM_014141.5(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383

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