ClinVar Miner

List of variants reported as uncertain significance for Pitt-Hopkins-like syndrome 2 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 241
Download table as spreadsheet
HGVS dbSNP
NC_000002.12:g.(?_49921924)_(49943811_?)del
NC_000002.12:g.(?_49921924)_(50055064_?)del
NC_000002.12:g.(?_49943684)_(49943811_?)del
NC_000002.12:g.(?_50346671)_(50623635_?)del
NC_000002.12:g.(?_50465422)_(50472491_?)del
NC_000002.12:g.(?_50465422)_(50623635_?)del
NC_000002.12:g.(?_50528605)_(50623635_?)del
NC_000002.12:g.(?_50538233)_(50538656_?)del
NC_000002.12:g.(?_50921849)_(50925975_?)del
NC_000002.12:g.(?_50921849)_(51032054_?)dup
NM_001330078.2(NRXN1):c.1048G>C (p.Ala350Pro)
NM_001330078.2(NRXN1):c.105C>T (p.Gly35=) rs55640811
NM_001330078.2(NRXN1):c.1097C>T (p.Ala366Val)
NM_001330078.2(NRXN1):c.1113A>G (p.Lys371=)
NM_001330078.2(NRXN1):c.113G>A (p.Gly38Asp) rs1553517468
NM_001330078.2(NRXN1):c.1158+21G>A
NM_001330078.2(NRXN1):c.1159-8T>G
NM_001330078.2(NRXN1):c.1162A>T (p.Thr388Ser)
NM_001330078.2(NRXN1):c.11C>T (p.Ala4Val) rs1198368082
NM_001330078.2(NRXN1):c.1202C>T (p.Thr401Met) rs796052764
NM_001330078.2(NRXN1):c.1221G>A (p.Met407Ile) rs373954439
NM_001330078.2(NRXN1):c.122C>T (p.Thr41Met)
NM_001330078.2(NRXN1):c.1351G>C (p.Glu451Gln)
NM_001330078.2(NRXN1):c.1381C>G (p.Pro461Ala)
NM_001330078.2(NRXN1):c.1382C>T (p.Pro461Leu) rs530674644
NM_001330078.2(NRXN1):c.1424A>C (p.Asn475Thr) rs751754721
NM_001330078.2(NRXN1):c.1424A>G (p.Asn475Ser) rs751754721
NM_001330078.2(NRXN1):c.143C>G (p.Ala48Gly)
NM_001330078.2(NRXN1):c.150C>T (p.Cys50=) rs1057518563
NM_001330078.2(NRXN1):c.1532C>T (p.Thr511Ile)
NM_001330078.2(NRXN1):c.1551C>G (p.Ile517Met) rs1553778339
NM_001330078.2(NRXN1):c.1566C>T (p.Gly522=) rs199701804
NM_001330078.2(NRXN1):c.157G>A (p.Glu53Lys)
NM_001330078.2(NRXN1):c.158A>C (p.Glu53Ala)
NM_001330078.2(NRXN1):c.1593G>C (p.Lys531Asn) rs1573517782
NM_001330078.2(NRXN1):c.1598C>T (p.Pro533Leu)
NM_001330078.2(NRXN1):c.1647C>A (p.His549Gln) rs201152575
NM_001330078.2(NRXN1):c.1679C>A (p.Thr560Asn) rs200332295
NM_001330078.2(NRXN1):c.1693G>A (p.Ala565Thr)
NM_001330078.2(NRXN1):c.1696C>A (p.Leu566Met)
NM_001330078.2(NRXN1):c.1700T>G (p.Leu567Trp) rs372311299
NM_001330078.2(NRXN1):c.1758A>G (p.Ser586=)
NM_001330078.2(NRXN1):c.1769C>G (p.Ser590Cys)
NM_001330078.2(NRXN1):c.1778C>T (p.Thr593Met) rs201530175
NM_001330078.2(NRXN1):c.1783C>T (p.Arg595Cys)
NM_001330078.2(NRXN1):c.1786A>T (p.Thr596Ser) rs1060503176
NM_001330078.2(NRXN1):c.1796C>G (p.Thr599Ser) rs1558902953
NM_001330078.2(NRXN1):c.1811G>A (p.Ser604Asn)
NM_001330078.2(NRXN1):c.1850G>A (p.Gly617Glu)
NM_001330078.2(NRXN1):c.1861A>G (p.Asn621Asp)
NM_001330078.2(NRXN1):c.190C>A (p.Arg64Ser) rs201566733
NM_001330078.2(NRXN1):c.1913A>G (p.Tyr638Cys) rs727504051
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val) rs200074974
NM_001330078.2(NRXN1):c.1948G>A (p.Asp650Asn)
NM_001330078.2(NRXN1):c.1955A>G (p.Gln652Arg)
NM_001330078.2(NRXN1):c.1969C>T (p.Arg657Trp) rs200844126
NM_001330078.2(NRXN1):c.1978G>A (p.Ala660Thr) rs199939303
NM_001330078.2(NRXN1):c.1996G>A (p.Ala666Thr) rs201731350
NM_001330078.2(NRXN1):c.2008C>G (p.Pro670Ala) rs762326241
NM_001330078.2(NRXN1):c.202C>G (p.Leu68Val) rs1160149775
NM_001330078.2(NRXN1):c.2036C>T (p.Pro679Leu) rs201735573
NM_001330078.2(NRXN1):c.2045G>C (p.Ser682Thr)
NM_001330078.2(NRXN1):c.20A>T (p.Gln7Leu) rs1558617775
NM_001330078.2(NRXN1):c.2110G>A (p.Gly704Arg) rs757547387
NM_001330078.2(NRXN1):c.2120A>C (p.Tyr707Ser) rs752073539
NM_001330078.2(NRXN1):c.2132C>G (p.Ser711Cys)
NM_001330078.2(NRXN1):c.2132C>T (p.Ser711Phe) rs1558901426
NM_001330078.2(NRXN1):c.2138A>G (p.Glu713Gly)
NM_001330078.2(NRXN1):c.2171G>C (p.Ser724Thr) rs1558890325
NM_001330078.2(NRXN1):c.2179A>G (p.Met727Val)
NM_001330078.2(NRXN1):c.2190G>T (p.Gln730His) rs199978276
NM_001330078.2(NRXN1):c.219G>C (p.Glu73Asp) rs201031680
NM_001330078.2(NRXN1):c.2251G>A (p.Ala751Thr)
NM_001330078.2(NRXN1):c.2253A>G (p.Ala751=) rs199648817
NM_001330078.2(NRXN1):c.2257G>A (p.Gly753Ser)
NM_001330078.2(NRXN1):c.2261T>C (p.Ile754Thr) rs1060503178
NM_001330078.2(NRXN1):c.2268G>A (p.Met756Ile) rs201741425
NM_001330078.2(NRXN1):c.2323C>T (p.Arg775Cys) rs201387857
NM_001330078.2(NRXN1):c.2336C>T (p.Thr779Met)
NM_001330078.2(NRXN1):c.2346A>C (p.Leu782=) rs764741914
NM_001330078.2(NRXN1):c.2368A>C (p.Asn790His)
NM_001330078.2(NRXN1):c.2405A>G (p.Tyr802Cys)
NM_001330078.2(NRXN1):c.2410C>A (p.Leu804Ile) rs763449110
NM_001330078.2(NRXN1):c.2437C>T (p.Arg813Cys) rs201150987
NM_001330078.2(NRXN1):c.2446C>T (p.Arg816Trp)
NM_001330078.2(NRXN1):c.2450G>A (p.Arg817His)
NM_001330078.2(NRXN1):c.2458A>C (p.Ser820Arg)
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn) rs80293130
NM_001330078.2(NRXN1):c.2476G>A (p.Asp826Asn) rs3185852
NM_001330078.2(NRXN1):c.2483A>C (p.Gln828Pro) rs1060503177
NM_001330078.2(NRXN1):c.2488G>C (p.Ala830Pro) rs759806453
NM_001330078.2(NRXN1):c.2488G>T (p.Ala830Ser) rs759806453
NM_001330078.2(NRXN1):c.2491A>G (p.Met831Val) rs200018177
NM_001330078.2(NRXN1):c.2492T>C (p.Met831Thr) rs1573308071
NM_001330078.2(NRXN1):c.2497+3A>G rs202074070
NM_001330078.2(NRXN1):c.2497+5A>G rs1573307996
NM_001330078.2(NRXN1):c.2497+9C>G rs1243683821
NM_001330078.2(NRXN1):c.2518A>T (p.Thr840Ser) rs1573258498
NM_001330078.2(NRXN1):c.2534A>G (p.His845Arg)
NM_001330078.2(NRXN1):c.2536A>G (p.Asn846Asp)
NM_001330078.2(NRXN1):c.2564G>A (p.Arg855Gln) rs796052776
NM_001330078.2(NRXN1):c.256G>A (p.Gly86Ser)
NM_001330078.2(NRXN1):c.2582T>C (p.Val861Ala)
NM_001330078.2(NRXN1):c.2597T>C (p.Ile866Thr) rs796052779
NM_001330078.2(NRXN1):c.2623A>G (p.Asn875Asp)
NM_001330078.2(NRXN1):c.2654A>G (p.Asn885Ser)
NM_001330078.2(NRXN1):c.2658C>T (p.Gly886=) rs752920557
NM_001330078.2(NRXN1):c.270G>T (p.Gln90His) rs199960045
NM_001330078.2(NRXN1):c.2713G>A (p.Asp905Asn) rs773147215
NM_001330078.2(NRXN1):c.2714A>C (p.Asp905Ala)
NM_001330078.2(NRXN1):c.2717C>T (p.Pro906Leu) rs1558833706
NM_001330078.2(NRXN1):c.2731A>G (p.Thr911Ala)
NM_001330078.2(NRXN1):c.2799C>G (p.Phe933Leu)
NM_001330078.2(NRXN1):c.2837G>T (p.Ser946Ile) rs201337797
NM_001330078.2(NRXN1):c.283A>G (p.Ile95Val)
NM_001330078.2(NRXN1):c.2844T>A (p.Asp948Glu)
NM_001330078.2(NRXN1):c.2953G>A (p.Asp985Asn) rs1553698631
NM_001330078.2(NRXN1):c.3005C>T (p.Thr1002Ile)
NM_001330078.2(NRXN1):c.302C>G (p.Ala101Gly) rs200184823
NM_001330078.2(NRXN1):c.302C>T (p.Ala101Val)
NM_001330078.2(NRXN1):c.3032C>T (p.Thr1011Met) rs199980022
NM_001330078.2(NRXN1):c.3046G>A (p.Gly1016Arg) rs1553698219
NM_001330078.2(NRXN1):c.3049G>C (p.Ala1017Pro)
NM_001330078.2(NRXN1):c.3103A>G (p.Thr1035Ala) rs753262049
NM_001330078.2(NRXN1):c.316G>A (p.Asp106Asn) rs200576486
NM_001330078.2(NRXN1):c.3181C>T (p.Arg1061Trp) rs765632172
NM_001330078.2(NRXN1):c.3189G>A (p.Pro1063=)
NM_001330078.2(NRXN1):c.3205G>A (p.Ala1069Thr)
NM_001330078.2(NRXN1):c.320C>T (p.Thr107Met) rs368549770
NM_001330078.2(NRXN1):c.3211T>C (p.Phe1071Leu)
NM_001330078.2(NRXN1):c.3245-10T>G rs1553645389
NM_001330078.2(NRXN1):c.3254C>T (p.Thr1085Ile) rs796052784
NM_001330078.2(NRXN1):c.325G>A (p.Val109Ile) rs779979011
NM_001330078.2(NRXN1):c.325G>C (p.Val109Leu) rs779979011
NM_001330078.2(NRXN1):c.3281A>G (p.Asn1094Ser) rs201963074
NM_001330078.2(NRXN1):c.3311G>A (p.Gly1104Asp)
NM_001330078.2(NRXN1):c.3344G>A (p.Ser1115Asn) rs201871194
NM_001330078.2(NRXN1):c.3364C>T (p.Pro1122Ser) rs1442195856
NM_001330078.2(NRXN1):c.3365-3C>T rs1553807559
NM_001330078.2(NRXN1):c.3371C>T (p.Thr1124Met)
NM_001330078.2(NRXN1):c.3407C>T (p.Thr1136Met) rs138261348
NM_001330078.2(NRXN1):c.342G>T (p.Trp114Cys) rs1575278010
NM_001330078.2(NRXN1):c.3490G>A (p.Val1164Ile)
NM_001330078.2(NRXN1):c.3524G>A (p.Gly1175Asp)
NM_001330078.2(NRXN1):c.3532C>A (p.Leu1178Ile) rs201442938
NM_001330078.2(NRXN1):c.35T>G (p.Phe12Cys) rs1298445857
NM_001330078.2(NRXN1):c.3612T>A (p.Asn1204Lys) rs757509384
NM_001330078.2(NRXN1):c.3630G>T (p.Gly1210=) rs200865423
NM_001330078.2(NRXN1):c.3634T>A (p.Tyr1212Asn)
NM_001330078.2(NRXN1):c.3647G>A (p.Arg1216His)
NM_001330078.2(NRXN1):c.370C>T (p.Arg124Cys) rs202244228
NM_001330078.2(NRXN1):c.3718+8A>G rs939526667
NM_001330078.2(NRXN1):c.3733G>A (p.Glu1245Lys)
NM_001330078.2(NRXN1):c.374A>G (p.Asn125Ser) rs770641207
NM_001330078.2(NRXN1):c.3770G>A (p.Arg1257Gln) rs1573636785
NM_001330078.2(NRXN1):c.3775G>C (p.Gly1259Arg) rs1558780258
NM_001330078.2(NRXN1):c.3799C>T (p.Leu1267Phe)
NM_001330078.2(NRXN1):c.37C>T (p.Leu13Phe) rs201674835
NM_001330078.2(NRXN1):c.3838G>A (p.Ala1280Thr)
NM_001330078.2(NRXN1):c.3842C>A (p.Thr1281Asn) rs1573629404
NM_001330078.2(NRXN1):c.3855C>T (p.Gly1285=) rs55776596
NM_001330078.2(NRXN1):c.3865C>A (p.Gln1289Lys)
NM_001330078.2(NRXN1):c.3869G>T (p.Gly1290Val) rs1558777086
NM_001330078.2(NRXN1):c.389T>C (p.Ile130Thr)
NM_001330078.2(NRXN1):c.3919G>A (p.Val1307Ile) rs200044811
NM_001330078.2(NRXN1):c.3947C>G (p.Ala1316Gly)
NM_001330078.2(NRXN1):c.3995C>T (p.Ser1332Phe)
NM_001330078.2(NRXN1):c.4025C>T (p.Ala1342Val)
NM_001330078.2(NRXN1):c.4029G>A (p.Met1343Ile) rs146100580
NM_001330078.2(NRXN1):c.407A>C (p.Lys136Thr) rs202118977
NM_001330078.2(NRXN1):c.407A>G (p.Lys136Arg) rs202118977
NM_001330078.2(NRXN1):c.4088C>A (p.Ala1363Asp) rs781551221
NM_001330078.2(NRXN1):c.4094G>T (p.Arg1365Ile) rs1220949138
NM_001330078.2(NRXN1):c.40C>A (p.Leu14Met)
NM_001330078.2(NRXN1):c.410G>T (p.Trp137Leu)
NM_001330078.2(NRXN1):c.4128+3G>A
NM_001330078.2(NRXN1):c.412G>T (p.Val138Leu) rs374644929
NM_001330078.2(NRXN1):c.4130C>T (p.Thr1377Ile)
NM_001330078.2(NRXN1):c.4220A>G (p.Asn1407Ser) rs146968018
NM_001330078.2(NRXN1):c.4228C>T (p.Arg1410Ter)
NM_001330078.2(NRXN1):c.4236C>T (p.Gly1412=) rs587781101
NM_001330078.2(NRXN1):c.4237G>A (p.Gly1413Ser) rs200604893
NM_001330078.2(NRXN1):c.4247C>G (p.Pro1416Arg) rs199697191
NM_001330078.2(NRXN1):c.4257C>G (p.Gly1419=)
NM_001330078.2(NRXN1):c.4324G>A (p.Ala1442Thr)
NM_001330078.2(NRXN1):c.4337T>A (p.Leu1446His) rs1293864569
NM_001330078.2(NRXN1):c.4352C>T (p.Ala1451Val) rs1060503175
NM_001330078.2(NRXN1):c.435G>T (p.Arg145Ser) rs1303388955
NM_001330078.2(NRXN1):c.445G>A (p.Val149Met)
NM_001330078.2(NRXN1):c.446T>C (p.Val149Ala) rs759122060
NM_001330078.2(NRXN1):c.475C>T (p.Pro159Ser)
NM_001330078.2(NRXN1):c.476C>T (p.Pro159Leu) rs373070672
NM_001330078.2(NRXN1):c.479C>T (p.Pro160Leu) rs371517584
NM_001330078.2(NRXN1):c.499C>A (p.Leu167Ile) rs753449110
NM_001330078.2(NRXN1):c.515C>T (p.Ala172Val) rs199986986
NM_001330078.2(NRXN1):c.518C>T (p.Ser173Leu) rs775907305
NM_001330078.2(NRXN1):c.524G>A (p.Arg175Lys)
NM_001330078.2(NRXN1):c.536C>T (p.Pro179Leu) rs777080356
NM_001330078.2(NRXN1):c.542A>G (p.Lys181Arg)
NM_001330078.2(NRXN1):c.553C>G (p.Arg185Gly)
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser) rs200792504
NM_001330078.2(NRXN1):c.569A>T (p.Asn190Ile)
NM_001330078.2(NRXN1):c.570C>A (p.Asn190Lys) rs564945882
NM_001330078.2(NRXN1):c.587C>T (p.Pro196Leu) rs199836119
NM_001330078.2(NRXN1):c.59T>G (p.Leu20Arg)
NM_001330078.2(NRXN1):c.609_610delinsCA (p.Lys203_Leu204delinsAsnMet) rs886042534
NM_001330078.2(NRXN1):c.637G>A (p.Gly213Arg) rs199561088
NM_001330078.2(NRXN1):c.652G>C (p.Glu218Gln) rs756078185
NM_001330078.2(NRXN1):c.655G>A (p.Ala219Thr)
NM_001330078.2(NRXN1):c.65G>A (p.Gly22Asp) rs1575279682
NM_001330078.2(NRXN1):c.664G>A (p.Glu222Lys) rs1575276127
NM_001330078.2(NRXN1):c.665_673dup (p.Glu222_Glu224dup) rs774230140
NM_001330078.2(NRXN1):c.670G>A (p.Glu224Lys)
NM_001330078.2(NRXN1):c.672G>T (p.Glu224Asp) rs1011679353
NM_001330078.2(NRXN1):c.724G>C (p.Val242Leu) rs878854254
NM_001330078.2(NRXN1):c.739C>G (p.Arg247Gly) rs200009780
NM_001330078.2(NRXN1):c.740G>A (p.Arg247Gln) rs1478221604
NM_001330078.2(NRXN1):c.746G>A (p.Gly249Asp)
NM_001330078.2(NRXN1):c.749T>A (p.Phe250Tyr) rs200646155
NM_001330078.2(NRXN1):c.75G>A (p.Ala25=) rs376641324
NM_001330078.2(NRXN1):c.76G>A (p.Glu26Lys) rs201847846
NM_001330078.2(NRXN1):c.76G>C (p.Glu26Gln) rs201847846
NM_001330078.2(NRXN1):c.772+1024C>G rs199645252
NM_001330078.2(NRXN1):c.772+1040A>T rs201741449
NM_001330078.2(NRXN1):c.772+1045G>A rs372181288
NM_001330078.2(NRXN1):c.772+1050C>A rs367919055
NM_001330078.2(NRXN1):c.772+1063C>T rs184695687
NM_001330078.2(NRXN1):c.772+1066T>C
NM_001330078.2(NRXN1):c.772+1081A>G rs759434607
NM_001330078.2(NRXN1):c.772+1094A>C rs200332062
NM_001330078.2(NRXN1):c.772G>A (p.Glu258Lys) rs746465882
NM_001330078.2(NRXN1):c.779A>G (p.Asn260Ser) rs779434583
NM_001330078.2(NRXN1):c.781A>G (p.Asn261Asp) rs781179797
NM_001330078.2(NRXN1):c.805A>G (p.Met269Val)
NM_001330078.2(NRXN1):c.805A>T (p.Met269Leu) rs776779952
NM_001330078.2(NRXN1):c.811G>A (p.Gly271Ser) rs368240967
NM_001330078.2(NRXN1):c.814G>A (p.Asp272Asn)
NM_001330078.2(NRXN1):c.832+2dup rs1344399066
NM_001330078.2(NRXN1):c.832+6A>G rs200841589
NM_001330078.2(NRXN1):c.861A>G (p.Lys287=)
NM_001330078.2(NRXN1):c.881A>G (p.Tyr294Cys) rs781054571

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