ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 130
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HGVS dbSNP
NC_000002.11:g.(?_50149062)_(50170949_?)del
NC_000002.11:g.(?_50149062)_(50282202_?)del
NC_000002.11:g.(?_50573809)_(50850773_?)del
NC_000002.11:g.(?_50692560)_(50699629_?)del
NC_000002.11:g.(?_50692560)_(50850773_?)del
NC_000002.11:g.(?_50755743)_(50850773_?)del
NC_000002.11:g.(?_51148987)_(51153113_?)del
NM_001330078.2(NRXN1):c.105C>T (p.Gly35=) rs55640811
NM_001330078.2(NRXN1):c.113G>A (p.Gly38Asp) rs1553517468
NM_001330078.2(NRXN1):c.11C>T (p.Ala4Val)
NM_001330078.2(NRXN1):c.1221G>A (p.Met407Ile)
NM_001330078.2(NRXN1):c.1382C>T (p.Pro461Leu) rs530674644
NM_001330078.2(NRXN1):c.1424A>G (p.Asn475Ser)
NM_001330078.2(NRXN1):c.150C>T (p.Cys50=) rs1057518563
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.1593G>C (p.Lys531Asn)
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.1778C>T (p.Thr593Met) rs201530175
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.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.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)
NM_001330078.2(NRXN1):c.2036C>T (p.Pro679Leu) rs201735573
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.2132C>T (p.Ser711Phe) rs1558901426
NM_001330078.2(NRXN1):c.2171G>C (p.Ser724Thr) rs1558890325
NM_001330078.2(NRXN1):c.2190G>T (p.Gln730His) rs199978276
NM_001330078.2(NRXN1):c.2253A>G (p.Ala751=)
NM_001330078.2(NRXN1):c.2261T>C (p.Ile754Thr) rs1060503178
NM_001330078.2(NRXN1):c.2268G>A (p.Met756Ile)
NM_001330078.2(NRXN1):c.2323C>T (p.Arg775Cys)
NM_001330078.2(NRXN1):c.2346A>C (p.Leu782=)
NM_001330078.2(NRXN1):c.2410C>A (p.Leu804Ile)
NM_001330078.2(NRXN1):c.2437C>T (p.Arg813Cys) rs201150987
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)
NM_001330078.2(NRXN1):c.2491A>G (p.Met831Val) rs200018177
NM_001330078.2(NRXN1):c.2492T>C (p.Met831Thr)
NM_001330078.2(NRXN1):c.2497+3A>G rs202074070
NM_001330078.2(NRXN1):c.2497+5A>G
NM_001330078.2(NRXN1):c.2518A>T (p.Thr840Ser)
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) rs199784139
NM_001330078.2(NRXN1):c.2564G>A (p.Arg855Gln) rs796052776
NM_001330078.2(NRXN1):c.2597T>C (p.Ile866Thr) rs796052779
NM_001330078.2(NRXN1):c.2658C>T (p.Gly886=)
NM_001330078.2(NRXN1):c.2713G>A (p.Asp905Asn) rs773147215
NM_001330078.2(NRXN1):c.2717C>T (p.Pro906Leu) rs1558833706
NM_001330078.2(NRXN1):c.2837G>T (p.Ser946Ile)
NM_001330078.2(NRXN1):c.2953G>A (p.Asp985Asn) rs1553698631
NM_001330078.2(NRXN1):c.302C>G (p.Ala101Gly) rs200184823
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.3103A>G (p.Thr1035Ala) rs753262049
NM_001330078.2(NRXN1):c.3181C>T (p.Arg1061Trp) rs765632172
NM_001330078.2(NRXN1):c.320C>T (p.Thr107Met) rs368549770
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>C (p.Val109Leu) rs779979011
NM_001330078.2(NRXN1):c.3281A>G (p.Asn1094Ser) rs201963074
NM_001330078.2(NRXN1):c.3364C>T (p.Pro1122Ser) rs1442195856
NM_001330078.2(NRXN1):c.3365-3C>T rs1553807559
NM_001330078.2(NRXN1):c.3407C>T (p.Thr1136Met)
NM_001330078.2(NRXN1):c.342G>T (p.Trp114Cys)
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=)
NM_001330078.2(NRXN1):c.3718+8A>G
NM_001330078.2(NRXN1):c.374A>G (p.Asn125Ser) rs770641207
NM_001330078.2(NRXN1):c.3770G>A (p.Arg1257Gln)
NM_001330078.2(NRXN1):c.3775G>C (p.Gly1259Arg) rs1558780258
NM_001330078.2(NRXN1):c.3842C>A (p.Thr1281Asn)
NM_001330078.2(NRXN1):c.3855C>T (p.Gly1285=)
NM_001330078.2(NRXN1):c.3869G>T (p.Gly1290Val) rs1558777086
NM_001330078.2(NRXN1):c.3919G>A (p.Val1307Ile) rs200044811
NM_001330078.2(NRXN1):c.4011G>C (p.Glu1337Asp) rs200935246
NM_001330078.2(NRXN1):c.4029G>A (p.Met1343Ile) rs146100580
NM_001330078.2(NRXN1):c.407A>C (p.Lys136Thr)
NM_001330078.2(NRXN1):c.4088C>A (p.Ala1363Asp)
NM_001330078.2(NRXN1):c.4094G>T (p.Arg1365Ile)
NM_001330078.2(NRXN1):c.4220A>G (p.Asn1407Ser)
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)
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)
NM_001330078.2(NRXN1):c.446T>C (p.Val149Ala)
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)
NM_001330078.2(NRXN1):c.515C>T (p.Ala172Val) rs199986986
NM_001330078.2(NRXN1):c.518C>T (p.Ser173Leu)
NM_001330078.2(NRXN1):c.536C>T (p.Pro179Leu)
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser) rs200792504
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.637G>A (p.Gly213Arg) rs199561088
NM_001330078.2(NRXN1):c.652G>C (p.Glu218Gln) rs756078185
NM_001330078.2(NRXN1):c.65G>A (p.Gly22Asp)
NM_001330078.2(NRXN1):c.664G>A (p.Glu222Lys)
NM_001330078.2(NRXN1):c.665_673dup (p.Glu222_Glu224dup) rs774230140
NM_001330078.2(NRXN1):c.672G>T (p.Glu224Asp)
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)
NM_001330078.2(NRXN1):c.76G>A (p.Glu26Lys)
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
NM_001330078.2(NRXN1):c.772+1081A>G rs759434607
NM_001330078.2(NRXN1):c.772+1094A>C
NM_001330078.2(NRXN1):c.781A>G (p.Asn261Asp) rs781179797
NM_001330078.2(NRXN1):c.811G>A (p.Gly271Ser)
NM_001330078.2(NRXN1):c.832+2dup rs1344399066
NM_001330078.2(NRXN1):c.832+6A>G rs200841589
NM_001330078.2(NRXN1):c.881A>G (p.Tyr294Cys) rs781054571

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