ClinVar Miner

List of variants in gene NRXN1 reported as likely benign for Pitt-Hopkins-like syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP
NM_001135659.2(NRXN1):c.-1394G>T
NM_001330078.2(NRXN1):c.*2277G>A rs187875122
NM_001330078.2(NRXN1):c.*573A>C rs184870922
NM_001330078.2(NRXN1):c.*941dup rs3839057
NM_001330078.2(NRXN1):c.-209A>G rs112715587
NM_001330078.2(NRXN1):c.-217C>G rs201073462
NM_001330078.2(NRXN1):c.1050C>G (p.Ala350=) rs201397488
NM_001330078.2(NRXN1):c.1059A>C (p.Ala353=) rs200259338
NM_001330078.2(NRXN1):c.108C>T (p.Ala36=) rs199871750
NM_001330078.2(NRXN1):c.1134+8C>T rs200448187
NM_001330078.2(NRXN1):c.1135-8C>T rs1430859209
NM_001330078.2(NRXN1):c.1158+26A>T rs201802152
NM_001330078.2(NRXN1):c.1269C>T (p.Ala423=) rs753264637
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) rs78540316
NM_001330078.2(NRXN1):c.129C>T (p.Phe43=)
NM_001330078.2(NRXN1):c.1326A>G (p.Val442=)
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=) rs201727684
NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr) rs201837579
NM_001330078.2(NRXN1):c.1749C>T (p.Asp583=) rs199934259
NM_001330078.2(NRXN1):c.1800T>C (p.Ala600=) rs1553760251
NM_001330078.2(NRXN1):c.1911C>T (p.Asn637=)
NM_001330078.2(NRXN1):c.2037G>A (p.Pro679=) rs199714221
NM_001330078.2(NRXN1):c.2109C>T (p.Ser703=) rs200456688
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732
NM_001330078.2(NRXN1):c.219G>A (p.Glu73=)
NM_001330078.2(NRXN1):c.222C>T (p.Gly74=) rs201592993
NM_001330078.2(NRXN1):c.2244C>G (p.Ser748=) rs761608592
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=) rs147984237
NM_001330078.2(NRXN1):c.2446C>A (p.Arg816=) rs200325059
NM_001330078.2(NRXN1):c.24C>T (p.Arg8=) rs200113281
NM_001330078.2(NRXN1):c.2507C>T (p.Ala836Val) rs199557987
NM_001330078.2(NRXN1):c.2526G>A (p.Leu842=) rs868353645
NM_001330078.2(NRXN1):c.252G>A (p.Thr84=) rs886042465
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) rs199784139
NM_001330078.2(NRXN1):c.2604C>T (p.His868=)
NM_001330078.2(NRXN1):c.261C>A (p.Gly87=) rs587781102
NM_001330078.2(NRXN1):c.2730G>A (p.Lys910=) rs192909520
NM_001330078.2(NRXN1):c.276C>T (p.Ser92=) rs1553516780
NM_001330078.2(NRXN1):c.2829A>G (p.Leu943=) rs754048752
NM_001330078.2(NRXN1):c.2841G>A (p.Gly947=)
NM_001330078.2(NRXN1):c.2967C>T (p.His989=)
NM_001330078.2(NRXN1):c.2970C>T (p.Asn990=)
NM_001330078.2(NRXN1):c.3012G>A (p.Lys1004=) rs201118246
NM_001330078.2(NRXN1):c.3030A>G (p.Thr1010=) rs201085950
NM_001330078.2(NRXN1):c.3033G>T (p.Thr1011=)
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=) rs56402642
NM_001330078.2(NRXN1):c.3090A>C (p.Gly1030=) rs201886024
NM_001330078.2(NRXN1):c.3129A>G (p.Val1043=) rs200698497
NM_001330078.2(NRXN1):c.3201C>T (p.Ser1067=) rs75275592
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser) rs199784029
NM_001330078.2(NRXN1):c.324G>A (p.Pro108=) rs199595253
NM_001330078.2(NRXN1):c.3365-110131T>G rs193267438
NM_001330078.2(NRXN1):c.3375A>G (p.Thr1125=) rs757748286
NM_001330078.2(NRXN1):c.3378T>C (p.Tyr1126=) rs1420076341
NM_001330078.2(NRXN1):c.3489C>T (p.Ala1163=) rs147580960
NM_001330078.2(NRXN1):c.3547-10T>G
NM_001330078.2(NRXN1):c.3595G>A (p.Ala1199Thr) rs201336161
NM_001330078.2(NRXN1):c.3618C>T (p.Ile1206=)
NM_001330078.2(NRXN1):c.3718+7A>G rs752561425
NM_001330078.2(NRXN1):c.3771A>G (p.Arg1257=)
NM_001330078.2(NRXN1):c.3808+3dup rs770051379
NM_001330078.2(NRXN1):c.3954C>T (p.Ile1318=)
NM_001330078.2(NRXN1):c.4004C>T (p.Thr1335Ile) rs200672080
NM_001330078.2(NRXN1):c.4011G>C (p.Glu1337Asp) rs200935246
NM_001330078.2(NRXN1):c.4060A>T (p.Thr1354Ser) rs202006815
NM_001330078.2(NRXN1):c.4107G>A (p.Pro1369=) rs183440866
NM_001330078.2(NRXN1):c.4167C>G (p.Pro1389=) rs143446587
NM_001330078.2(NRXN1):c.4176T>C (p.Asp1392=) rs201135028
NM_001330078.2(NRXN1):c.417G>A (p.Glu139=) rs757453009
NM_001330078.2(NRXN1):c.420C>G (p.Val140=)
NM_001330078.2(NRXN1):c.4216+9A>G
NM_001330078.2(NRXN1):c.4233A>C (p.Ala1411=)
NM_001330078.2(NRXN1):c.4248G>A (p.Pro1416=) rs151195816
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=) rs55923848
NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=) rs143495349
NM_001330078.2(NRXN1):c.4338T>C (p.Leu1446=) rs796052759
NM_001330078.2(NRXN1):c.4344C>T (p.Leu1448=)
NM_001330078.2(NRXN1):c.4392T>C (p.His1464=) rs112536447
NM_001330078.2(NRXN1):c.4428A>G (p.Ala1476=) rs184343684
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=) rs113380721
NM_001330078.2(NRXN1):c.4485C>T (p.Asn1495=) rs200814948
NM_001330078.2(NRXN1):c.498G>A (p.Ala166=) rs201212909
NM_001330078.2(NRXN1):c.501C>G (p.Leu167=) rs200248561
NM_001330078.2(NRXN1):c.546G>A (p.Gly182=) rs1464488808
NM_001330078.2(NRXN1):c.583C>T (p.Leu195=) rs923508164
NM_001330078.2(NRXN1):c.588C>G (p.Pro196=)
NM_001330078.2(NRXN1):c.588C>T (p.Pro196=) rs201644834
NM_001330078.2(NRXN1):c.723C>G (p.Ala241=) rs200153066
NM_001330078.2(NRXN1):c.753C>A (p.Arg251=) rs770481343
NM_001330078.2(NRXN1):c.772+1078A>G rs144049982
NM_001330078.2(NRXN1):c.772+1118G>A rs201194822
NM_001330078.2(NRXN1):c.798G>A (p.Ala266=) rs201027928
NM_001330078.2(NRXN1):c.804G>C (p.Leu268=) rs1553364040
NM_001330078.2(NRXN1):c.833-5T>G rs199712573
NM_001330078.2(NRXN1):c.855G>A (p.Thr285=)
NM_001330078.2(NRXN1):c.864A>G (p.Gly288=) rs373654735
NM_001330078.2(NRXN1):c.882C>T (p.Tyr294=) rs200464704
NM_001330078.2(NRXN1):c.9G>C (p.Thr3=) rs770820205
NM_138735.4(NRXN1):c.49GGC[11] (p.Gly17[11]) rs750165040

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