"GeneDx"[submitter] AND "NRXN1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 152522	GRCh38/hg38 2p16.3(chr2:49910893-49943628)x3	NRXN1	Copy number gain	See cases	GLikely benign
Select item 336539	NM_001330078.2(NRXN1):c.*110G>A	NRXN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 206198	NM_001330078.2(NRXN1):c.*18G>C	NRXN1	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 387540	NM_001330078.2(NRXN1):c.*13A>C	NRXN1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 388908	NM_001330078.2(NRXN1):c.*1T>A	NRXN1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 206270	NM_001330078.2(NRXN1):c.4494_4496del (p.Lys1499del)	NRXN1 (K1539del +20 more)	Deletion (inframe_deletion)	Pitt-Hopkins-like syndrome 2 +1 more	GUncertain significance
Select item 516416	NM_001330078.2(NRXN1):c.4485C>T (p.Asn1495=)	NRXN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 138547	NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=)	NRXN1	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +3 more	GBenign/Likely benign
Select item 1196704	NM_001330078.2(NRXN1):c.4472C>T (p.Ala1491Val)	NRXN1 (A123V +20 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 384550	NM_001330078.2(NRXN1):c.4428A>G (p.Ala1476=)	NRXN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 138546	NM_001330078.2(NRXN1):c.4392T>C (p.His1464=)	NRXN1	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +3 more	GConflicting classifications of pathogenicity
Select item 2072129	NM_001330078.2(NRXN1):c.4370A>T (p.Asn1457Ile)	NRXN1 (N1387I +20 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2663255	NM_001330078.2(NRXN1):c.4341_4350del (p.Ile1447fs)	NRXN1 (I1377fs +20 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 206197	NM_001330078.2(NRXN1):c.4338T>C (p.Leu1446=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2 +1 more	GBenign/Likely benign
Select item 1122886	NM_001330078.2(NRXN1):c.4293G>A (p.Thr1431=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2 +1 more	GLikely benign
Select item 138545	NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 206213	NM_001330078.2(NRXN1):c.4274G>A (p.Arg1425Gln)	NRXN1 (R1465Q +20 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1317156	NM_001330078.2(NRXN1):c.4271T>G (p.Ile1424Ser)	NRXN1 (I1354S +20 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129824	NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=)	NRXN1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 211693	NM_001330078.2(NRXN1):c.4248G>A (p.Pro1416=)	NRXN1	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +3 more	GConflicting classifications of pathogenicity
Select item 206273	NM_001330078.2(NRXN1):c.4237G>A (p.Gly1413Ser)	NRXN1 (G1453S +20 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 138544	NM_001330078.2(NRXN1):c.4236C>T (p.Gly1412=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 567894	NM_001330078.2(NRXN1):c.4220A>G (p.Asn1407Ser)	NRXN1 (N1447S +20 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 378302	NM_001330078.2(NRXN1):c.4217-13C>T	NRXN1	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome 2 +1 more	GBenign/Likely benign
Select item 138543	NM_001330078.2(NRXN1):c.4217-16A>C	NRXN1	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome 2 +2 more	GBenign/Likely benign
Select item 667709	NM_001330078.2(NRXN1):c.4217-121T>C	NRXN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675103	NM_001330078.2(NRXN1):c.4216+113C>G	NRXN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 138541	NM_001330078.2(NRXN1):c.4216+17T>A	NRXN1	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome 2 +1 more	GBenign
Select item 206212	NM_001330078.2(NRXN1):c.4202G>A (p.Ser1401Asn)	NRXN1 (S1441N +14 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 723221	NM_001330078.2(NRXN1):c.4197G>A (p.Glu1399=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1318486	NM_001330078.2(NRXN1):c.4191del (p.Cys1398fs)	NRXN1 (C1331fs +14 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 503893	NM_001330078.2(NRXN1):c.4173_4188delinsGTGTCCCTAA (p.Asp1391_Asp1396delinsGluCysProTer)	NRXN1	Indel (nonsense)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 378301	NM_001330078.2(NRXN1):c.4176T>C (p.Asp1392=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2 +3 more	GLikely benign
Select item 211692	NM_001330078.2(NRXN1):c.4167C>G (p.Pro1389=)	NRXN1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1695866	NM_001330078.2(NRXN1):c.4138G>A (p.Asp1380Asn)	NRXN1 (D1313N +14 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1196302	NM_001330078.2(NRXN1):c.4134del (p.Asp1379fs)	NRXN1 (D1312fs +14 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1204717	NM_001330078.2(NRXN1):c.4130C>A (p.Thr1377Asn)	NRXN1 (T12N +14 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2 +1 more	GUncertain significance
Select item 1193751	NM_001330078.2(NRXN1):c.4129-247G>A	NRXN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205827	NM_001330078.2(NRXN1):c.4129-279T>C	NRXN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 151432	GRCh38/hg38 2p16.3(chr2:50004126-50041370)x3	NRXN1	Copy number gain	See cases	GLikely benign
Select item 1295353	NM_001330078.2(NRXN1):c.4128+126A>G	NRXN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220569	NM_001330078.2(NRXN1):c.4128+71C>T	NRXN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216940	NM_001330078.2(NRXN1):c.4125C>G (p.Ser1375Arg)	NRXN1 (S1308R +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 383233	NM_001330078.2(NRXN1):c.4107G>A (p.Pro1369=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2 +1 more	GLikely benign
Select item 1317594	NM_001330078.2(NRXN1):c.4097G>A (p.Gly1366Glu)	NRXN1 (G1299E +13 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317354	NM_001330078.2(NRXN1):c.4076C>G (p.Ala1359Gly)	NRXN1 (A1292G +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2 +1 more	GUncertain significance
Select item 129823	NM_001330078.2(NRXN1):c.4068G>A (p.Thr1356=)	NRXN1	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +3 more	GBenign
Select item 2446240	NM_001330078.2(NRXN1):c.4064C>A (p.Thr1355Asn)	NRXN1 (T1288N +13 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 336541	NM_001330078.2(NRXN1):c.4060A>T (p.Thr1354Ser)	NRXN1 (T1394S +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 3363274	NM_001330078.2(NRXN1):c.4051A>C (p.Ile1351Leu)	NRXN1 (I1284L +13 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449230	NM_001330078.2(NRXN1):c.4029G>A (p.Met1343Ile)	NRXN1 (M1383I +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 423934	NM_001330078.2(NRXN1):c.4012T>G (p.Ser1338Ala)	NRXN1 (S1378A +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2 +1 more	GUncertain significance
Select item 206282	NM_001330078.2(NRXN1):c.4011G>C (p.Glu1337Asp)	NRXN1 (E1377D +13 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 206281	NM_001330078.2(NRXN1):c.4004C>T (p.Thr1335Ile)	NRXN1 (T1375I +13 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 515322	NM_001330078.2(NRXN1):c.3957C>T (p.Ala1319=)	NRXN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 794442	NM_001330078.2(NRXN1):c.3954C>T (p.Ile1318=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2 +1 more	GLikely benign
Select item 1693450	NM_001330078.2(NRXN1):c.3952A>G (p.Ile1318Val)	NRXN1 (I1251V +13 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318687	NM_001330078.2(NRXN1):c.3943G>C (p.Asp1315His)	NRXN1 (D1248H +13 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 507966	NM_001330078.2(NRXN1):c.3936C>T (p.Ala1312=)	NRXN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 93602	NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2 +3 more	GBenign/Likely benign
Select item 206268	NM_001330078.2(NRXN1):c.3905A>G (p.Tyr1302Cys)	NRXN1 (Y1342C +13 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 513552	NM_001330078.2(NRXN1):c.3888G>A (p.Gln1296=)	NRXN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1320398	NM_001330078.2(NRXN1):c.3873G>C (p.Gln1291His)	NRXN1 (Q1224H +13 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 422783	NM_001330078.2(NRXN1):c.3845dup (p.Ile1283fs)	NRXN1 (I1216fs +13 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 745189	NM_001330078.2(NRXN1):c.3822A>C (p.Thr1274=)	NRXN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1316261	NM_001330078.2(NRXN1):c.3811C>T (p.Arg1271Cys)	NRXN1 (R1204C +13 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 673180	NM_001330078.2(NRXN1):c.3809-49T>C	NRXN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233329	NM_001330078.2(NRXN1):c.3809-245C>T	NRXN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295352	NM_001330078.2(NRXN1):c.3809-247T>C	NRXN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 513141	NM_001330078.2(NRXN1):c.3808+8dup	NRXN1	Duplication (intron variant)	not specified +1 more	GLikely benign
Select item 3340372	NM_001330078.2(NRXN1):c.3802G>A (p.Asp1268Asn)	NRXN1 (D1246N +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 761778	NM_001330078.2(NRXN1):c.3771A>G (p.Arg1257=)	NRXN1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 422223	NM_001330078.2(NRXN1):c.3769C>T (p.Arg1257Ter)	NRXN1 (R1297* +7 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 451216	NM_001330078.2(NRXN1):c.3757C>T (p.Arg1253Ter)	NRXN1 (R1293* +7 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1318567	NM_001330078.2(NRXN1):c.3722A>G (p.Asn1241Ser)	NRXN1 (N1219S +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1196145	NM_001330078.2(NRXN1):c.3719-125A>C	NRXN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195051	NM_001330078.2(NRXN1):c.3719-297A>G	NRXN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182235	NM_001330078.2(NRXN1):c.3718+307T>G	NRXN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203013	NM_001330078.2(NRXN1):c.3718+86T>C	NRXN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 386672	NM_001330078.2(NRXN1):c.3718+11G>A	NRXN1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 383884	NM_001330078.2(NRXN1):c.3717A>T (p.Ala1239=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1320500	NM_001330078.2(NRXN1):c.3716C>A (p.Ala1239Glu)	NRXN1 (A1202E +10 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1318655	NM_001330078.2(NRXN1):c.3680A>C (p.Gln1227Pro)	NRXN1 (Q1190P +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 514953	NM_001330078.2(NRXN1):c.3675G>T (p.Thr1225=)	NRXN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 436033	NM_001330078.2(NRXN1):c.3675G>A (p.Thr1225=)	NRXN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 390977	NM_001330078.2(NRXN1):c.3672C>A (p.Ala1224=)	NRXN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 509898	NM_001330078.2(NRXN1):c.3654G>C (p.Thr1218=)	NRXN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 430235	NM_001330078.2(NRXN1):c.3653C>T (p.Thr1218Met)	NRXN1 (T1258M +10 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 797679	NM_001330078.2(NRXN1):c.3618C>T (p.Ile1206=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 211691	NM_001330078.2(NRXN1):c.3616A>G (p.Ile1206Val)	NRXN1 (I1246V +10 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 206263	NM_001330078.2(NRXN1):c.3595G>A (p.Ala1199Thr)	NRXN1 (A1239T +10 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 378912	NM_001330078.2(NRXN1):c.3547-2A>G	NRXN1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 509040	NM_001330078.2(NRXN1):c.3547-16C>G	NRXN1	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome 2 +1 more	GLikely benign
Select item 386973	NM_001330078.2(NRXN1):c.3547-18T>C	NRXN1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 670909	NM_001330078.2(NRXN1):c.3547-29C>G	NRXN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677519	NM_001330078.2(NRXN1):c.3547-162G>A	NRXN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669862	NM_001330078.2(NRXN1):c.3547-313T>C	NRXN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667731	NM_001330078.2(NRXN1):c.3546+227C>T	NRXN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667707	NM_001330078.2(NRXN1):c.3546+226T>C	NRXN1	Single nucleotide variant (intron variant)	not provided	GBenign

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