ClinVar Miner

List of variants in gene CNTNAP2 reported as uncertain significance for Pitt-Hopkins-like syndrome

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Gene type:
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Total variants: 102
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HGVS dbSNP
NM_014141.5(CNTNAP2):c.-135G>A rs886062046
NM_014141.5(CNTNAP2):c.-145G>C rs769212821
NM_014141.5(CNTNAP2):c.-146G>A rs886062045
NM_014141.5(CNTNAP2):c.-168C>G rs886062044
NM_014141.5(CNTNAP2):c.-218A>G rs886062043
NM_014141.5(CNTNAP2):c.-329A>T rs187944069
NM_014141.5(CNTNAP2):c.-331delT rs886062041
NM_014141.5(CNTNAP2):c.-331dupT rs886062041
NM_014141.5(CNTNAP2):c.-394C>T rs886062040
NM_014141.5(CNTNAP2):c.-439C>T rs560050853
NM_014141.5(CNTNAP2):c.-454G>T rs886062039
NM_014141.6(CNTNAP2):c.*1027C>G rs886062059
NM_014141.6(CNTNAP2):c.*1249G>A rs886062061
NM_014141.6(CNTNAP2):c.*1397_*1398dup rs886062062
NM_014141.6(CNTNAP2):c.*1482A>T rs186254614
NM_014141.6(CNTNAP2):c.*1486T>C rs575958976
NM_014141.6(CNTNAP2):c.*159G>A rs886062054
NM_014141.6(CNTNAP2):c.*1606del rs769986162
NM_014141.6(CNTNAP2):c.*1648A>C rs367944578
NM_014141.6(CNTNAP2):c.*1657G>A rs573903898
NM_014141.6(CNTNAP2):c.*174_*175dup rs61125105
NM_014141.6(CNTNAP2):c.*1762T>C rs78058659
NM_014141.6(CNTNAP2):c.*176C>A rs200052441
NM_014141.6(CNTNAP2):c.*1858G>A rs544588829
NM_014141.6(CNTNAP2):c.*2013A>G rs73155921
NM_014141.6(CNTNAP2):c.*2156C>T rs886062064
NM_014141.6(CNTNAP2):c.*2309G>T rs886062065
NM_014141.6(CNTNAP2):c.*2315C>T rs886062066
NM_014141.6(CNTNAP2):c.*2551A>T rs779403898
NM_014141.6(CNTNAP2):c.*2699C>T rs886062067
NM_014141.6(CNTNAP2):c.*2777C>T rs886062068
NM_014141.6(CNTNAP2):c.*2903T>A rs886062070
NM_014141.6(CNTNAP2):c.*3227G>T rs568899606
NM_014141.6(CNTNAP2):c.*3328G>A rs77103373
NM_014141.6(CNTNAP2):c.*3419del rs144252697
NM_014141.6(CNTNAP2):c.*3433G>A rs142623983
NM_014141.6(CNTNAP2):c.*3593C>A rs778480799
NM_014141.6(CNTNAP2):c.*3616C>T rs534404412
NM_014141.6(CNTNAP2):c.*3629T>C rs886062072
NM_014141.6(CNTNAP2):c.*3744C>A rs886062073
NM_014141.6(CNTNAP2):c.*3796C>T rs183556756
NM_014141.6(CNTNAP2):c.*3802G>A rs557610788
NM_014141.6(CNTNAP2):c.*3836C>T rs543686108
NM_014141.6(CNTNAP2):c.*3913A>G rs886062074
NM_014141.6(CNTNAP2):c.*3999del rs35835723
NM_014141.6(CNTNAP2):c.*4071G>A rs147886818
NM_014141.6(CNTNAP2):c.*4089A>G rs113618136
NM_014141.6(CNTNAP2):c.*4195T>C rs76977336
NM_014141.6(CNTNAP2):c.*4260C>T rs557641203
NM_014141.6(CNTNAP2):c.*4276C>T rs17171000
NM_014141.6(CNTNAP2):c.*440C>T rs886062055
NM_014141.6(CNTNAP2):c.*4708A>T rs886062076
NM_014141.6(CNTNAP2):c.*4768G>A rs886062077
NM_014141.6(CNTNAP2):c.*5148G>A rs143358477
NM_014141.6(CNTNAP2):c.*5233C>T rs561403003
NM_014141.6(CNTNAP2):c.*5268G>T rs886062078
NM_014141.6(CNTNAP2):c.*5337del rs886062079
NM_014141.6(CNTNAP2):c.*634A>G rs562638833
NM_014141.6(CNTNAP2):c.*828T>C rs137995700
NM_014141.6(CNTNAP2):c.*923del rs753739211
NM_014141.6(CNTNAP2):c.*925T>G rs886062058
NM_014141.6(CNTNAP2):c.-18C>G rs879368718
NM_014141.6(CNTNAP2):c.-49T>G rs549396215
NM_014141.6(CNTNAP2):c.-61G>A rs886062047
NM_014141.6(CNTNAP2):c.1257G>A (p.Leu419=) rs773218141
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=) rs56356283
NM_014141.6(CNTNAP2):c.1480G>A (p.Glu494Lys) rs149032771
NM_014141.6(CNTNAP2):c.1504C>G (p.Leu502Val) rs368470905
NM_014141.6(CNTNAP2):c.1733G>A (p.Cys578Tyr) rs886062052
NM_014141.6(CNTNAP2):c.1777+7G>A rs770951811
NM_014141.6(CNTNAP2):c.1786G>A (p.Glu596Lys) rs141064983
NM_014141.6(CNTNAP2):c.209-11C>T rs369056998
NM_014141.6(CNTNAP2):c.2122G>T (p.Val708Phe) rs763122160
NM_014141.6(CNTNAP2):c.2190C>T (p.Cys730=) rs74354654
NM_014141.6(CNTNAP2):c.2241G>A (p.Ala747=) rs758102050
NM_014141.6(CNTNAP2):c.2255+12C>T rs749270618
NM_014141.6(CNTNAP2):c.2422T>C (p.Ser808Pro) rs773802167
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.2554+14G>T rs546437079
NM_014141.6(CNTNAP2):c.2570C>A (p.Ser857Tyr) rs200330677
NM_014141.6(CNTNAP2):c.3063A>C (p.Ala1021=) rs767478890
NM_014141.6(CNTNAP2):c.3155G>A (p.Arg1052His) rs374739970
NM_014141.6(CNTNAP2):c.3182C>T (p.Pro1061Leu) rs778596213
NM_014141.6(CNTNAP2):c.3247+15A>G rs201602527
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449
NM_014141.6(CNTNAP2):c.3651G>A (p.Ser1217=) rs377455159
NM_014141.6(CNTNAP2):c.3715+4A>C rs886062053
NM_014141.6(CNTNAP2):c.3797-5G>A rs745770134
NM_014141.6(CNTNAP2):c.479G>A (p.Arg160His) rs138738227
NM_014141.6(CNTNAP2):c.550+10G>A rs776175685
NM_014141.6(CNTNAP2):c.561T>C (p.Val187=) rs201200400
NM_014141.6(CNTNAP2):c.59G>A (p.Ser20Asn) rs886062048
NM_014141.6(CNTNAP2):c.637G>A (p.Ala213Thr) rs886062050
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.823C>T (p.His275Tyr) rs765851581
NM_014141.6(CNTNAP2):c.837G>A (p.Val279=) rs143507886
NM_014141.6(CNTNAP2):c.87C>T (p.Pro29=) rs886062049
NM_014141.6(CNTNAP2):c.910G>C (p.Glu304Gln) rs886062051
NM_014141.6(CNTNAP2):c.945C>G (p.Thr315=) rs794727872
NM_014141.6(CNTNAP2):c.983G>A (p.Ser328Asn) rs758429654

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