ClinVar Miner

List of variants in gene CNTNAP2 reported as uncertain significance for Pitt-Hopkins-like syndrome 1

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 251
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HGVS dbSNP
NC_000007.13:g.(?_145813093)_(146537016_?)dup
NC_000007.13:g.(?_146471343)_(146471493_?)del
NC_000007.13:g.(?_146471363)_(146471473_?)del
NC_000007.13:g.(?_147259210)_(147259369_?)dup
NC_000007.13:g.(?_147600637)_(147844821_?)dup
NC_000007.13:g.(?_148106463)_(148106583_?)del
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.1033G>A (p.Val345Ile) rs145832489
NM_014141.6(CNTNAP2):c.1039A>G (p.Ile347Val)
NM_014141.6(CNTNAP2):c.1051G>A (p.Ala351Thr) rs201253086
NM_014141.6(CNTNAP2):c.1078A>G (p.Asn360Asp) rs570190374
NM_014141.6(CNTNAP2):c.1079A>G (p.Asn360Ser) rs794727873
NM_014141.6(CNTNAP2):c.1105G>T (p.Val369Leu) rs368057493
NM_014141.6(CNTNAP2):c.1162G>A (p.Gly388Arg) rs775430816
NM_014141.6(CNTNAP2):c.1165C>T (p.Arg389Trp) rs375172684
NM_014141.6(CNTNAP2):c.1175A>T (p.Gln392Leu) rs1554441866
NM_014141.6(CNTNAP2):c.1249G>T (p.Asp417Tyr) rs147815978
NM_014141.6(CNTNAP2):c.1252A>G (p.Asn418Asp)
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.1325T>G (p.Met442Arg)
NM_014141.6(CNTNAP2):c.1336G>A (p.Asp446Asn)
NM_014141.6(CNTNAP2):c.1347A>C (p.Ser449=) rs1554441906
NM_014141.6(CNTNAP2):c.136G>A (p.Val46Met) rs137924687
NM_014141.6(CNTNAP2):c.1384C>T (p.Arg462Cys)
NM_014141.6(CNTNAP2):c.1385G>A (p.Arg462His) rs774717843
NM_014141.6(CNTNAP2):c.1420A>G (p.Ile474Val) rs765970596
NM_014141.6(CNTNAP2):c.1441G>A (p.Ala481Thr) rs1329353667
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.1531T>A (p.Ser511Thr) rs1554479252
NM_014141.6(CNTNAP2):c.1597T>A (p.Leu533Ile) rs781114080
NM_014141.6(CNTNAP2):c.1603G>A (p.Glu535Lys) rs76475298
NM_014141.6(CNTNAP2):c.1622C>T (p.Pro541Leu) rs779761487
NM_014141.6(CNTNAP2):c.1634C>T (p.Ala545Val) rs771772546
NM_014141.6(CNTNAP2):c.1679C>G (p.Pro560Arg) rs1064795313
NM_014141.6(CNTNAP2):c.16C>G (p.Arg6Gly)
NM_014141.6(CNTNAP2):c.1700G>C (p.Gly567Ala)
NM_014141.6(CNTNAP2):c.1709C>T (p.Ser570Leu) rs377627481
NM_014141.6(CNTNAP2):c.1733G>A (p.Cys578Tyr) rs886062052
NM_014141.6(CNTNAP2):c.1745A>G (p.Glu582Gly) rs1554490561
NM_014141.6(CNTNAP2):c.1766C>A (p.Thr589Asn)
NM_014141.6(CNTNAP2):c.1777+7G>A rs770951811
NM_014141.6(CNTNAP2):c.1786G>A (p.Glu596Lys) rs141064983
NM_014141.6(CNTNAP2):c.1789C>A (p.Pro597Thr) rs1194751419
NM_014141.6(CNTNAP2):c.181G>A (p.Gly61Ser) rs376929846
NM_014141.6(CNTNAP2):c.1858G>A (p.Gly620Arg) rs142980731
NM_014141.6(CNTNAP2):c.1879G>A (p.Val627Ile) rs147447659
NM_014141.6(CNTNAP2):c.1882T>C (p.Tyr628His) rs770030792
NM_014141.6(CNTNAP2):c.1943C>T (p.Thr648Met) rs534215627
NM_014141.6(CNTNAP2):c.1990G>A (p.Val664Ile) rs201934244
NM_014141.6(CNTNAP2):c.1998C>A (p.Ser666Arg)
NM_014141.6(CNTNAP2):c.1999G>A (p.Ala667Thr)
NM_014141.6(CNTNAP2):c.2046C>T (p.Cys682=) rs201076428
NM_014141.6(CNTNAP2):c.2047G>A (p.Glu683Lys) rs372580822
NM_014141.6(CNTNAP2):c.208G>C (p.Gly70Arg) rs758143699
NM_014141.6(CNTNAP2):c.209-11C>T rs369056998
NM_014141.6(CNTNAP2):c.209-3C>T
NM_014141.6(CNTNAP2):c.2096C>A (p.Pro699Gln)
NM_014141.6(CNTNAP2):c.2114C>T (p.Thr705Ile)
NM_014141.6(CNTNAP2):c.2122G>T (p.Val708Phe) rs763122160
NM_014141.6(CNTNAP2):c.2136C>A (p.Asn712Lys) rs187552025
NM_014141.6(CNTNAP2):c.2137G>A (p.Glu713Lys) rs201178948
NM_014141.6(CNTNAP2):c.2147A>G (p.Tyr716Cys) rs760930032
NM_014141.6(CNTNAP2):c.2171G>C (p.Gly724Ala) rs1554447808
NM_014141.6(CNTNAP2):c.2186C>T (p.Ala729Val) rs758221358
NM_014141.6(CNTNAP2):c.2190C>T (p.Cys730=) rs74354654
NM_014141.6(CNTNAP2):c.2197G>A (p.Glu733Lys) rs991842796
NM_014141.6(CNTNAP2):c.2201G>A (p.Arg734His) rs1060503570
NM_014141.6(CNTNAP2):c.2239G>A (p.Ala747Thr) rs150530671
NM_014141.6(CNTNAP2):c.2240C>T (p.Ala747Val)
NM_014141.6(CNTNAP2):c.2241G>A (p.Ala747=) rs758102050
NM_014141.6(CNTNAP2):c.2242G>T (p.Asp748Tyr) rs371691712
NM_014141.6(CNTNAP2):c.2255+12C>T rs749270618
NM_014141.6(CNTNAP2):c.2255+3G>A
NM_014141.6(CNTNAP2):c.2315T>C (p.Val772Ala) rs370466945
NM_014141.6(CNTNAP2):c.2320G>T (p.Asp774Tyr)
NM_014141.6(CNTNAP2):c.2368C>T (p.Arg790Cys) rs200089329
NM_014141.6(CNTNAP2):c.2380G>A (p.Asp794Asn)
NM_014141.6(CNTNAP2):c.2383A>G (p.Arg795Gly) rs1327708224
NM_014141.6(CNTNAP2):c.2422T>C (p.Ser808Pro) rs773802167
NM_014141.6(CNTNAP2):c.2440A>G (p.Thr814Ala) rs1060503571
NM_014141.6(CNTNAP2):c.2460C>T (p.Ser820=) rs144496909
NM_014141.6(CNTNAP2):c.2461G>A (p.Ala821Thr) rs375617946
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.2599G>A (p.Val867Ile)
NM_014141.6(CNTNAP2):c.2646G>C (p.Trp882Cys) rs1247068015
NM_014141.6(CNTNAP2):c.2699G>A (p.Arg900Gln)
NM_014141.6(CNTNAP2):c.2716C>T (p.Arg906Cys) rs141617212
NM_014141.6(CNTNAP2):c.274C>T (p.Arg92Trp) rs747286104
NM_014141.6(CNTNAP2):c.275G>A (p.Arg92Gln) rs138924087
NM_014141.6(CNTNAP2):c.2793G>C (p.Gln931His) rs768170033
NM_014141.6(CNTNAP2):c.293T>C (p.Ile98Thr) rs146331571
NM_014141.6(CNTNAP2):c.2955C>A (p.His985Gln) rs138257598
NM_014141.6(CNTNAP2):c.2968G>A (p.Asp990Asn) rs1060503572
NM_014141.6(CNTNAP2):c.2985A>G (p.Ala995=) rs768859093
NM_014141.6(CNTNAP2):c.3010+5G>A rs373422045
NM_014141.6(CNTNAP2):c.3010+6G>A rs376708056
NM_014141.6(CNTNAP2):c.3010G>A (p.Asp1004Asn) rs748508785
NM_014141.6(CNTNAP2):c.3061G>A (p.Ala1021Thr)
NM_014141.6(CNTNAP2):c.3063A>C (p.Ala1021=) rs767478890
NM_014141.6(CNTNAP2):c.3076G>A (p.Ala1026Thr) rs796052382
NM_014141.6(CNTNAP2):c.3106G>A (p.Ala1036Thr) rs545175315
NM_014141.6(CNTNAP2):c.3112G>A (p.Asp1038Asn) rs144003410
NM_014141.6(CNTNAP2):c.3115C>G (p.Gln1039Glu) rs372351365
NM_014141.6(CNTNAP2):c.3131C>T (p.Pro1044Leu) rs369724886
NM_014141.6(CNTNAP2):c.3151A>G (p.Ile1051Val) rs373566502
NM_014141.6(CNTNAP2):c.3154C>T (p.Arg1052Cys) rs139930720
NM_014141.6(CNTNAP2):c.3155G>A (p.Arg1052His) rs374739970
NM_014141.6(CNTNAP2):c.3179C>T (p.Ala1060Val) rs369254596
NM_014141.6(CNTNAP2):c.3182C>T (p.Pro1061Leu) rs778596213
NM_014141.6(CNTNAP2):c.3247+15A>G rs201602527
NM_014141.6(CNTNAP2):c.3263G>T (p.Arg1088Leu) rs201827086
NM_014141.6(CNTNAP2):c.3284G>A (p.Arg1095Gln)
NM_014141.6(CNTNAP2):c.3292T>C (p.Tyr1098His) rs1484284253
NM_014141.6(CNTNAP2):c.3304G>A (p.Val1102Ile) rs773399465
NM_014141.6(CNTNAP2):c.3317A>G (p.Asn1106Ser) rs1554405605
NM_014141.6(CNTNAP2):c.3355C>T (p.Arg1119Cys) rs367664952
NM_014141.6(CNTNAP2):c.3356G>A (p.Arg1119His)
NM_014141.6(CNTNAP2):c.3379A>G (p.Lys1127Glu) rs1032665509
NM_014141.6(CNTNAP2):c.3388C>T (p.His1130Tyr)
NM_014141.6(CNTNAP2):c.338A>G (p.Tyr113Cys) rs779208613
NM_014141.6(CNTNAP2):c.3431C>A (p.Thr1144Asn) rs775781258
NM_014141.6(CNTNAP2):c.3474A>G (p.Ile1158Met) rs1554409689
NM_014141.6(CNTNAP2):c.3517C>A (p.Pro1173Thr)
NM_014141.6(CNTNAP2):c.3517C>G (p.Pro1173Ala)
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449
NM_014141.6(CNTNAP2):c.355G>A (p.Asp119Asn) rs777035367
NM_014141.6(CNTNAP2):c.3595G>A (p.Ala1199Thr) rs727503878
NM_014141.6(CNTNAP2):c.3607G>A (p.Val1203Ile) rs745397865
NM_014141.6(CNTNAP2):c.3621C>T (p.Gly1207=) rs1387218532
NM_014141.6(CNTNAP2):c.3651G>A (p.Ser1217=) rs377455159
NM_014141.6(CNTNAP2):c.3661C>G (p.Leu1221Val) rs765217559
NM_014141.6(CNTNAP2):c.3689C>T (p.Pro1230Leu) rs759652826
NM_014141.6(CNTNAP2):c.3715+4A>C rs886062053
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr) rs767821521
NM_014141.6(CNTNAP2):c.3775A>G (p.Arg1259Gly)
NM_014141.6(CNTNAP2):c.3797-5G>A rs745770134
NM_014141.6(CNTNAP2):c.37C>T (p.Leu13Phe) rs796052375
NM_014141.6(CNTNAP2):c.3827T>C (p.Leu1276Pro) rs1554432746
NM_014141.6(CNTNAP2):c.3850C>T (p.Arg1284Trp) rs763809167
NM_014141.6(CNTNAP2):c.3851G>A (p.Arg1284Gln) rs751307599
NM_014141.6(CNTNAP2):c.3857T>C (p.Met1286Thr) rs150167891
NM_014141.6(CNTNAP2):c.3862C>A (p.Arg1288Ser)
NM_014141.6(CNTNAP2):c.3862C>T (p.Arg1288Cys) rs138661307
NM_014141.6(CNTNAP2):c.3897G>C (p.Lys1299Asn)
NM_014141.6(CNTNAP2):c.3902C>T (p.Ala1301Val) rs776987592
NM_014141.6(CNTNAP2):c.3925G>A (p.Ala1309Thr)
NM_014141.6(CNTNAP2):c.3952T>G (p.Phe1318Val) rs1468031997
NM_014141.6(CNTNAP2):c.400T>G (p.Trp134Gly) rs139694086
NM_014141.6(CNTNAP2):c.416A>G (p.Asn139Ser) rs370517200
NM_014141.6(CNTNAP2):c.436G>A (p.Val146Ile) rs781338949
NM_014141.6(CNTNAP2):c.440G>A (p.Arg147Gln) rs1064794785
NM_014141.6(CNTNAP2):c.479G>A (p.Arg160His) rs138738227
NM_014141.6(CNTNAP2):c.485T>G (p.Val162Gly) rs587780320
NM_014141.6(CNTNAP2):c.511C>T (p.Arg171Cys)
NM_014141.6(CNTNAP2):c.512G>T (p.Arg171Leu) rs368487049
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.632T>C (p.Val211Ala) rs367652115
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.65T>C (p.Leu22Pro) rs768374052
NM_014141.6(CNTNAP2):c.664G>C (p.Glu222Gln) rs532524611
NM_014141.6(CNTNAP2):c.671T>C (p.Val224Ala)
NM_014141.6(CNTNAP2):c.676C>A (p.Leu226Met) rs372345438
NM_014141.6(CNTNAP2):c.681C>T (p.His227=) rs142984073
NM_014141.6(CNTNAP2):c.707T>G (p.Ile236Ser) rs749945304
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893
NM_014141.6(CNTNAP2):c.755-3C>T rs780336361
NM_014141.6(CNTNAP2):c.777A>G (p.Ile259Met) rs1554440667
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.847C>T (p.Arg283Cys) rs794727802
NM_014141.6(CNTNAP2):c.857G>A (p.Arg286Gln) rs375721700
NM_014141.6(CNTNAP2):c.860G>T (p.Ser287Ile)
NM_014141.6(CNTNAP2):c.861C>G (p.Ser287Arg) rs1015511874
NM_014141.6(CNTNAP2):c.876G>A (p.Leu292=)
NM_014141.6(CNTNAP2):c.87C>T (p.Pro29=) rs886062049
NM_014141.6(CNTNAP2):c.898C>T (p.Arg300Cys) rs577870607
NM_014141.6(CNTNAP2):c.905A>G (p.Asn302Ser) rs1060503569
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.958C>T (p.Pro320Ser)
NM_014141.6(CNTNAP2):c.983G>A (p.Ser328Asn) rs758429654

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