ClinVar Miner

List of variants reported as uncertain significance for Pitt-Hopkins-like syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 222
Download table as spreadsheet
HGVS dbSNP
NM_001135659.2(NRXN1):c.-1103T>C rs199802558
NM_001135659.2(NRXN1):c.-1122C>T rs199620396
NM_001135659.2(NRXN1):c.-1219C>T rs200251205
NM_001135659.2(NRXN1):c.-1255C>G rs560985559
NM_001135659.2(NRXN1):c.-1263G>C rs199614038
NM_001135659.2(NRXN1):c.-1270A>C rs200176717
NM_001135659.2(NRXN1):c.-1273G>A rs186103615
NM_001135659.2(NRXN1):c.-1310G>C rs199990648
NM_001135659.2(NRXN1):c.-1334C>G rs201606022
NM_001135659.2(NRXN1):c.-1367dup rs886056176
NM_001135659.2(NRXN1):c.-1373C>A rs886056177
NM_001135659.2(NRXN1):c.-1381G>A rs886056178
NM_001135659.2(NRXN1):c.-1395G>A rs886056179
NM_001135659.2(NRXN1):c.-1451_-1446del rs886056181
NM_001135659.2(NRXN1):c.-1452_-1449TTTC[2] rs886056180
NM_001135659.2(NRXN1):c.-1453_-1452del rs70958640
NM_001135659.2(NRXN1):c.-1453_-1452dup rs70958640
NM_001135659.2(NRXN1):c.-1455C>T rs201544418
NM_001135659.2(NRXN1):c.-1455_-1452dup rs70958640
NM_001135659.2(NRXN1):c.-1457_-1448del rs886056182
NM_001135659.2(NRXN1):c.-1457_-1452del rs70958640
NM_001135659.2(NRXN1):c.-1457_-1452dup rs70958640
NM_001135659.2(NRXN1):c.-1459_-1452dup rs70958640
NM_001135659.2(NRXN1):c.-1461_-1452dup rs70958640
NM_001135659.2(NRXN1):c.-1463_-1452del rs70958640
NM_001135659.2(NRXN1):c.-1475_-1474insACTCTC rs886056187
NM_001330078.2(NRXN1):c.*1019G>A rs886056163
NM_001330078.2(NRXN1):c.*1049_*1053TTCTT[1] rs371180727
NM_001330078.2(NRXN1):c.*1090G>A rs199680726
NM_001330078.2(NRXN1):c.*1195A>G rs200452275
NM_001330078.2(NRXN1):c.*1201_*1202AC[17] rs66612444
NM_001330078.2(NRXN1):c.*1201_*1202AC[18] rs66612444
NM_001330078.2(NRXN1):c.*1201_*1202AC[20] rs66612444
NM_001330078.2(NRXN1):c.*1201_*1202AC[24] rs66612444
NM_001330078.2(NRXN1):c.*1201_*1202AC[25] rs66612444
NM_001330078.2(NRXN1):c.*1524T>G rs201970726
NM_001330078.2(NRXN1):c.*1723_*1724del rs886056160
NM_001330078.2(NRXN1):c.*2222A>G rs551566143
NM_001330078.2(NRXN1):c.*2277G>A rs187875122
NM_001330078.2(NRXN1):c.*2286C>A rs886056159
NM_001330078.2(NRXN1):c.*2372G>A rs116370948
NM_001330078.2(NRXN1):c.*2373G>A rs886056158
NM_001330078.2(NRXN1):c.*2377T>C rs543797695
NM_001330078.2(NRXN1):c.*2384del rs879374430
NM_001330078.2(NRXN1):c.*2384dup rs879374430
NM_001330078.2(NRXN1):c.*2387_*2389dup rs530539369
NM_001330078.2(NRXN1):c.*2514A>G rs746884216
NM_001330078.2(NRXN1):c.*2535C>T rs886056156
NM_001330078.2(NRXN1):c.*2629A>C rs533799399
NM_001330078.2(NRXN1):c.*2672_*2675dup rs556394274
NM_001330078.2(NRXN1):c.*2766A>G rs886056155
NM_001330078.2(NRXN1):c.*2835T>C rs553997030
NM_001330078.2(NRXN1):c.*3123C>T rs531095026
NM_001330078.2(NRXN1):c.*319T>C rs201147530
NM_001330078.2(NRXN1):c.*3278T>G rs886056154
NM_001330078.2(NRXN1):c.*3346T>A rs541005670
NM_001330078.2(NRXN1):c.*3387_*3391dup rs771041201
NM_001330078.2(NRXN1):c.*383A>G rs886056168
NM_001330078.2(NRXN1):c.*385G>A rs886056167
NM_001330078.2(NRXN1):c.*435T>C rs200957137
NM_001330078.2(NRXN1):c.*573A>C rs184870922
NM_001330078.2(NRXN1):c.*613del rs886056166
NM_001330078.2(NRXN1):c.*620A>T rs202136352
NM_001330078.2(NRXN1):c.*814G>A rs886056165
NM_001330078.2(NRXN1):c.*878_*879dup rs886056164
NM_001330078.2(NRXN1):c.*98A>G rs201147127
NM_001330078.2(NRXN1):c.-1011G>A rs113142002
NM_001330078.2(NRXN1):c.-1039C>T rs201743429
NM_001330078.2(NRXN1):c.-1057C>G rs886056175
NM_001330078.2(NRXN1):c.-193C>T rs186097623
NM_001330078.2(NRXN1):c.-209A>G rs112715587
NM_001330078.2(NRXN1):c.-217C>G rs201073462
NM_001330078.2(NRXN1):c.-224G>A rs201347407
NM_001330078.2(NRXN1):c.-232T>C rs200988069
NM_001330078.2(NRXN1):c.-282G>A rs886056173
NM_001330078.2(NRXN1):c.-34C>A rs200335720
NM_001330078.2(NRXN1):c.-422C>T rs886056174
NM_001330078.2(NRXN1):c.-453T>C rs201518531
NM_001330078.2(NRXN1):c.-465T>C rs200410983
NM_001330078.2(NRXN1):c.-557C>T rs190900829
NM_001330078.2(NRXN1):c.-644A>G rs199722674
NM_001330078.2(NRXN1):c.-747C>G rs199974519
NM_001330078.2(NRXN1):c.-813A>G rs201740093
NM_001330078.2(NRXN1):c.-922+7A>C rs200115353
NM_001330078.2(NRXN1):c.1158+26A>T rs201802152
NM_001330078.2(NRXN1):c.1163C>T (p.Thr388Ile) rs886056172
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=) rs201727684
NM_001330078.2(NRXN1):c.1546C>A (p.Leu516Ile) rs781442387
NM_001330078.2(NRXN1):c.1760-13C>G rs886056171
NM_001330078.2(NRXN1):c.222C>T (p.Gly74=) rs201592993
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=) rs147984237
NM_001330078.2(NRXN1):c.2421C>T (p.Asn807=) rs115211871
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) rs201818223
NM_001330078.2(NRXN1):c.2698A>C (p.Arg900=) rs574531814
NM_001330078.2(NRXN1):c.2730G>A (p.Lys910=) rs192909520
NM_001330078.2(NRXN1):c.3012G>A (p.Lys1004=) rs201118246
NM_001330078.2(NRXN1):c.3090A>C (p.Gly1030=) rs201886024
NM_001330078.2(NRXN1):c.315C>T (p.Ala105=) rs767271650
NM_001330078.2(NRXN1):c.3237A>G (p.Gly1079=) rs886056170
NM_001330078.2(NRXN1):c.3249C>T (p.Pro1083=) rs116236999
NM_001330078.2(NRXN1):c.3364+9C>T rs200767650
NM_001330078.2(NRXN1):c.3384T>C (p.Phe1128=) rs751894635
NM_001330078.2(NRXN1):c.3532C>A (p.Leu1178Ile) rs201442938
NM_001330078.2(NRXN1):c.3552G>C (p.Gln1184His) rs886056169
NM_001330078.2(NRXN1):c.3646C>T (p.Arg1216Cys) rs199888301
NM_001330078.2(NRXN1):c.4004C>T (p.Thr1335Ile) rs200672080
NM_001330078.2(NRXN1):c.4060A>T (p.Thr1354Ser) rs202006815
NM_001330078.2(NRXN1):c.4236C>T (p.Gly1412=) rs587781101
NM_001330078.2(NRXN1):c.4248G>A (p.Pro1416=) rs151195816
NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=) rs143495349
NM_001330078.2(NRXN1):c.4392T>C (p.His1464=) rs112536447
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=) rs113380721
NM_001330078.2(NRXN1):c.492C>T (p.Ala164=) rs201180707
NM_001330078.2(NRXN1):c.501C>G (p.Leu167=) rs200248561
NM_001330078.2(NRXN1):c.521T>C (p.Val174Ala) rs545577149
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser) rs200792504
NM_001330078.2(NRXN1):c.587C>T (p.Pro196Leu) rs199836119
NM_001330078.2(NRXN1):c.752G>A (p.Arg251His) rs780954241
NM_001330078.2(NRXN1):c.772+1032G>A rs771759988
NM_001330078.2(NRXN1):c.772+1078A>G rs144049982
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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