NRXN1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
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 144457	GRCh38/hg38 2p21-16.3(chr2:46806218-50565538)x1	BCYRN1, CALM2 +94 more	Copy number loss	See cases	GPathogenic
Select item 154949	GRCh38/hg38 2p16.3(chr2:48929614-50839499)x1	FSHR, LOC110121071 +8 more	Copy number loss	See cases	GPathogenic
Select item 152522	GRCh38/hg38 2p16.3(chr2:49910893-49943628)x3	NRXN1	Copy number gain	See cases	GLikely benign
Select item 150467	GRCh38/hg38 2p16.3(chr2:49910932-52462336)x1	LINC01867, LOC110121071 +7 more	Copy number loss	See cases	GPathogenic
Select item 336495	NM_001330078.2(NRXN1):c.3387_3391dup	NRXN1	Duplication (3 prime UTR variant)	Pitt-Hopkins-like syndrome	GUncertain significance
Select item 336496	NM_001330078.2(NRXN1):c.*3346T>A	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 336497	NM_001330078.2(NRXN1):c.*3278T>G	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 898969	NM_001330078.2(NRXN1):c.*3204C>T	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 898970	NM_001330078.2(NRXN1):c.*3186A>C	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 336498	NM_001330078.2(NRXN1):c.*3123C>T	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 898971	NM_001330078.2(NRXN1):c.*2878G>A	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GBenign
Select item 336499	NM_001330078.2(NRXN1):c.*2835T>C	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2 +1 more	GUncertain significance
Select item 894841	NM_001330078.2(NRXN1):c.*2787A>G	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 336500	NM_001330078.2(NRXN1):c.*2766A>G	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 894842	NM_001330078.2(NRXN1):c.*2745G>C	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 336501	NM_001330078.2(NRXN1):c.2672_2675dup	NRXN1	Duplication (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 336502	NM_001330078.2(NRXN1):c.*2629A>C	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 336503	NM_001330078.2(NRXN1):c.*2535C>T	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 336504	NM_001330078.2(NRXN1):c.*2514A>G	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 336505	NM_001330078.2(NRXN1):c.*2511G>C	NRXN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 336506	NM_001330078.2(NRXN1):c.2387_2389dup	NRXN1	Duplication (3 prime UTR variant)	Pitt-Hopkins-like syndrome	GUncertain significance
Select item 896279	NM_001330078.2(NRXN1):c.*2386A>G	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 336507	NM_001330078.2(NRXN1):c.*2384dup	NRXN1	Duplication (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 336508	NM_001330078.2(NRXN1):c.*2384del	NRXN1	Deletion (3 prime UTR variant)	Pitt-Hopkins-like syndrome	GUncertain significance
Select item 336509	NM_001330078.2(NRXN1):c.*2377T>C	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 336510	NM_001330078.2(NRXN1):c.*2373G>A	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 336511	NM_001330078.2(NRXN1):c.*2372G>A	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GBenign
Select item 896280	NM_001330078.2(NRXN1):c.*2298C>G	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 336512	NM_001330078.2(NRXN1):c.*2286C>A	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 896281	NM_001330078.2(NRXN1):c.*2285T>A	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 336513	NM_001330078.2(NRXN1):c.*2277G>A	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 336514	NM_001330078.2(NRXN1):c.*2222A>G	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 897896	NM_001330078.2(NRXN1):c.*2116C>A	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 897897	NM_001330078.2(NRXN1):c.*2105A>C	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GBenign
Select item 897898	NM_001330078.2(NRXN1):c.*2025T>A	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 336515	NM_001330078.2(NRXN1):c.*1911G>T	NRXN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 897899	NM_001330078.2(NRXN1):c.*1842A>C	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 336516	NM_001330078.2(NRXN1):c.1723_1724del	NRXN1	Deletion (3 prime UTR variant)	Pitt-Hopkins-like syndrome	GUncertain significance
Select item 897900	NM_001330078.2(NRXN1):c.*1692T>C	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GBenign
Select item 897901	NM_001330078.2(NRXN1):c.*1583T>C	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 899033	NM_001330078.2(NRXN1):c.*1539C>G	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GBenign
Select item 336517	NM_001330078.2(NRXN1):c.*1524T>G	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 899034	NM_001330078.2(NRXN1):c.*1389T>A	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 899035	NM_001330078.2(NRXN1):c.*1365A>G	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GBenign
Select item 899036	NM_001330078.2(NRXN1):c.*1348C>G	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 336518	NM_001330078.2(NRXN1):c.*1327C>G	NRXN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 899037	NM_001330078.2(NRXN1):c.*1318A>C	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 336520	NM_001330078.2(NRXN1):c.*1201AC[25]	NRXN1	Microsatellite (3 prime UTR variant)	Pitt-Hopkins-like syndrome	GUncertain significance
Select item 336519	NM_001330078.2(NRXN1):c.*1201AC[24]	NRXN1	Microsatellite (3 prime UTR variant)	Pitt-Hopkins-like syndrome	GUncertain significance
Select item 336523	NM_001330078.2(NRXN1):c.*1201AC[17]	NRXN1	Microsatellite (3 prime UTR variant)	Pitt-Hopkins-like syndrome	GUncertain significance
Select item 336522	NM_001330078.2(NRXN1):c.*1201AC[18]	NRXN1	Microsatellite (3 prime UTR variant)	Pitt-Hopkins-like syndrome	GUncertain significance
Select item 336521	NM_001330078.2(NRXN1):c.*1201AC[20]	NRXN1	Microsatellite (3 prime UTR variant)	Pitt-Hopkins-like syndrome	GUncertain significance
Select item 899038	NM_001330078.2(NRXN1):c.*1201A>T	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 336524	NM_001330078.2(NRXN1):c.*1195A>G	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 336525	NM_001330078.2(NRXN1):c.*1090G>A	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 336526	NM_001330078.2(NRXN1):c.*1049TTCTT[1]	NRXN1	Microsatellite (3 prime UTR variant)	Pitt-Hopkins-like syndrome	GUncertain significance
Select item 336527	NM_001330078.2(NRXN1):c.*1019G>A	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 336528	NM_001330078.2(NRXN1):c.967_970dup	NRXN1	Duplication (3 prime UTR variant)	Pitt-Hopkins-like syndrome	GBenign
Select item 336529	NM_001330078.2(NRXN1):c.*941dup	NRXN1	Duplication (3 prime UTR variant)	Pitt-Hopkins-like syndrome	GLikely benign
Select item 336530	NM_001330078.2(NRXN1):c.878_879dup	NRXN1	Duplication (3 prime UTR variant)	Pitt-Hopkins-like syndrome	GUncertain significance
Select item 336531	NM_001330078.2(NRXN1):c.*814G>A	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 894910	NM_001330078.2(NRXN1):c.*803C>G	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 894911	NM_001330078.2(NRXN1):c.*793C>T	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 336532	NM_001330078.2(NRXN1):c.*620A>T	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 336533	NM_001330078.2(NRXN1):c.*613del	NRXN1	Deletion (3 prime UTR variant)	Pitt-Hopkins-like syndrome	GUncertain significance
Select item 894912	NM_001330078.2(NRXN1):c.*582G>C	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 336534	NM_001330078.2(NRXN1):c.*573A>C	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 896350	NM_001330078.2(NRXN1):c.*540T>A	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GBenign
Select item 896351	NM_001330078.2(NRXN1):c.*527A>G	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 336535	NM_001330078.2(NRXN1):c.*435T>C	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 896352	NM_001330078.2(NRXN1):c.*434A>G	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 336536	NM_001330078.2(NRXN1):c.*385G>A	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome	GUncertain significance
Select item 336537	NM_001330078.2(NRXN1):c.*383A>G	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 896353	NM_001330078.2(NRXN1):c.*381C>G	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 336538	NM_001330078.2(NRXN1):c.*319T>C	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 897966	NM_001330078.2(NRXN1):c.*232G>A	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
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 336540	NM_001330078.2(NRXN1):c.*98A>G	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2 +1 more	GUncertain significance
Select item 539894	NC_000002.12:g.(?_49921924)_(50055064_?)del	LOC114827832, NRXN1	Deletion	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 472634	NC_000002.12:g.(?_49921924)_(49943811_?)del	NRXN1	Deletion	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 1722369	NM_001330078.2(NRXN1):c.*18G>A	NRXN1	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
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 897967	NM_001330078.2(NRXN1):c.*12T>G	NRXN1	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 388908	NM_001330078.2(NRXN1):c.*1T>A	NRXN1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1973822	NM_001330078.2(NRXN1):c.4518T>C (p.Tyr1506=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	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 1389950	NM_001330078.2(NRXN1):c.4480T>C (p.Ser1494Pro)	NRXN1 (S1485P +20 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 794337	NM_001330078.2(NRXN1):c.4479C>T (p.Ser1493=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2056129	NM_001330078.2(NRXN1):c.4478G>A (p.Ser1493Asn)	NRXN1 (S128N +20 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 138547	NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=)	NRXN1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 2704752	NM_001330078.2(NRXN1):c.4472C>A (p.Ala1491Glu)	NRXN1 (A126E +20 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
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 1047340	NM_001330078.2(NRXN1):c.4463C>T (p.Pro1488Leu)	NRXN1 (P1428L +20 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 3202236	NM_001330078.2(NRXN1):c.4459C>A (p.Gln1487Lys)	NRXN1 (Q122K +20 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2089866	NM_001330078.2(NRXN1):c.4450A>G (p.Lys1484Glu)	NRXN1 (K116E +20 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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