ClinVar Miner

List of variants in gene NRXN1 reported as uncertain significance for Pitt-Hopkins-like syndrome

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Gene type:
ClinVar version:
Total variants: 119
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HGVS dbSNP
NM_001135659.2(NRXN1):c.*1019G>A rs886056163
NM_001135659.2(NRXN1):c.*1049_*1053TTCTT[1] rs371180727
NM_001135659.2(NRXN1):c.*1090G>A rs199680726
NM_001135659.2(NRXN1):c.*1195A>G rs200452275
NM_001135659.2(NRXN1):c.*1201_*1202AC[17] rs66612444
NM_001135659.2(NRXN1):c.*1201_*1202AC[18] rs66612444
NM_001135659.2(NRXN1):c.*1201_*1202AC[20] rs66612444
NM_001135659.2(NRXN1):c.*1201_*1202AC[24] rs66612444
NM_001135659.2(NRXN1):c.*1201_*1202AC[25] rs66612444
NM_001135659.2(NRXN1):c.*1524T>G rs201970726
NM_001135659.2(NRXN1):c.*1723_*1724del rs886056160
NM_001135659.2(NRXN1):c.*2222A>G rs551566143
NM_001135659.2(NRXN1):c.*2286C>A rs886056159
NM_001135659.2(NRXN1):c.*2373G>A rs886056158
NM_001135659.2(NRXN1):c.*2384del rs879374430
NM_001135659.2(NRXN1):c.*2384dup rs879374430
NM_001135659.2(NRXN1):c.*2387_*2389dup rs530539369
NM_001135659.2(NRXN1):c.*2514A>G rs746884216
NM_001135659.2(NRXN1):c.*2535C>T rs886056156
NM_001135659.2(NRXN1):c.*2629A>C rs533799399
NM_001135659.2(NRXN1):c.*2672_*2675dup rs556394274
NM_001135659.2(NRXN1):c.*2766A>G rs886056155
NM_001135659.2(NRXN1):c.*2835T>C rs553997030
NM_001135659.2(NRXN1):c.*319T>C rs201147530
NM_001135659.2(NRXN1):c.*3278T>G rs886056154
NM_001135659.2(NRXN1):c.*3346T>A rs541005670
NM_001135659.2(NRXN1):c.*3387_*3391dup rs771041201
NM_001135659.2(NRXN1):c.*383A>G rs886056168
NM_001135659.2(NRXN1):c.*385G>A rs886056167
NM_001135659.2(NRXN1):c.*435T>C rs200957137
NM_001135659.2(NRXN1):c.*613del rs886056166
NM_001135659.2(NRXN1):c.*814G>A rs886056165
NM_001135659.2(NRXN1):c.*878_*879dup rs886056164
NM_001135659.2(NRXN1):c.-1039C>T rs201743429
NM_001135659.2(NRXN1):c.-1057C>G rs886056175
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_001135659.2(NRXN1):c.-217C>G rs201073462
NM_001135659.2(NRXN1):c.-224G>A rs201347407
NM_001135659.2(NRXN1):c.-282G>A rs886056173
NM_001135659.2(NRXN1):c.-422C>T rs886056174
NM_001135659.2(NRXN1):c.-453T>C rs201518531
NM_001135659.2(NRXN1):c.-747C>G rs199974519
NM_001135659.2(NRXN1):c.1283C>T (p.Thr428Ile) rs886056172
NM_001135659.2(NRXN1):c.1666C>A (p.Leu556Ile) rs781442387
NM_001135659.2(NRXN1):c.1880-13C>G rs886056171
NM_001135659.2(NRXN1):c.2818A>C (p.Arg940=) rs574531814
NM_001135659.2(NRXN1):c.2850G>A (p.Lys950=) rs192909520
NM_001135659.2(NRXN1):c.3132G>A (p.Lys1044=) rs201118246
NM_001135659.2(NRXN1):c.315C>T (p.Ala105=) rs767271650
NM_001135659.2(NRXN1):c.3357A>G (p.Gly1119=) rs886056170
NM_001135659.2(NRXN1):c.3672G>C (p.Gln1224His) rs886056169
NM_001135659.2(NRXN1):c.3766C>T (p.Arg1256Cys) rs199888301
NM_001135659.2(NRXN1):c.4124C>T (p.Thr1375Ile) rs200672080
NM_001135659.2(NRXN1):c.4356C>T (p.Gly1452=) rs587781101
NM_001135659.2(NRXN1):c.4368G>A (p.Pro1456=) rs151195816
NM_001135659.2(NRXN1):c.492C>T (p.Ala164=) rs201180707
NM_001135659.2(NRXN1):c.521T>C (p.Val174Ala) rs545577149
NM_001135659.2(NRXN1):c.587C>T (p.Pro196Leu) rs199836119
NM_001330078.2(NRXN1):c.*2277G>A rs187875122
NM_001330078.2(NRXN1):c.*2372G>A rs116370948
NM_001330078.2(NRXN1):c.*2377T>C rs543797695
NM_001330078.2(NRXN1):c.*3123C>T rs531095026
NM_001330078.2(NRXN1):c.*573A>C rs184870922
NM_001330078.2(NRXN1):c.*620A>T rs202136352
NM_001330078.2(NRXN1):c.*98A>G rs201147127
NM_001330078.2(NRXN1):c.-1011G>A rs113142002
NM_001330078.2(NRXN1):c.-193C>T rs186097623
NM_001330078.2(NRXN1):c.-209A>G rs112715587
NM_001330078.2(NRXN1):c.-232T>C rs200988069
NM_001330078.2(NRXN1):c.-34C>A rs200335720
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.-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.1365T>C (p.Leu455=) rs201727684
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.3090A>C (p.Gly1030=) rs201886024
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.4060A>T (p.Thr1354Ser) rs202006815
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.501C>G (p.Leu167=) rs200248561
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser) rs200792504
NM_001330078.2(NRXN1):c.752G>A (p.Arg251His) rs780954241
NM_001330078.2(NRXN1):c.772+1078A>G rs144049982

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