NRXN3[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 105

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	LOC130056152, LOC130056153 +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 57809	GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	ADCK1, AHSA1 +155 more	Copy number loss	See cases	GPathogenic
Select item 148347	GRCh38/hg38 14q24.3-31.1(chr14:77193005-80476132)x1	ADCK1, AHSA1 +72 more	Copy number loss	See cases	GLikely pathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 3047705	NM_001330195.2(NRXN3):c.51G>A (p.Leu17=)	NRXN3	Single nucleotide variant (synonymous variant +1 more)	NRXN3-related disorder	GLikely benign
Select item 3031744	NM_001330195.2(NRXN3):c.182C>T (p.Thr61Met)	NRXN3 (T61M)	Single nucleotide variant (missense variant +1 more)	NRXN3-related disorder	GUncertain significance
Select item 3043608	NM_001330195.2(NRXN3):c.210C>T (p.Gly70=)	NRXN3	Single nucleotide variant (synonymous variant +1 more)	NRXN3-related disorder	GLikely benign
Select item 3039208	NM_001330195.2(NRXN3):c.252C>T (p.Arg84=)	NRXN3	Single nucleotide variant (synonymous variant +1 more)	NRXN3-related disorder	GLikely benign
Select item 3026507	NM_001330195.2(NRXN3):c.282C>T (p.Ala94=)	NRXN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3045674	NM_001330195.2(NRXN3):c.291C>T (p.Ala97=)	NRXN3	Single nucleotide variant (synonymous variant +1 more)	NRXN3-related disorder	GLikely benign
Select item 3052007	NM_001330195.2(NRXN3):c.363G>A (p.Thr121=)	NRXN3	Single nucleotide variant (synonymous variant +1 more)	NRXN3-related disorder	GLikely benign
Select item 674092	NM_001330195.2(NRXN3):c.378T>C (p.Asp126=)	NRXN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2644426	NM_001330195.2(NRXN3):c.468A>T (p.Ile156=)	NRXN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 674091	NM_001330195.2(NRXN3):c.608G>A (p.Gly203Asp)	NRXN3 (G203D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3047818	NM_001330195.2(NRXN3):c.727+10T>G	NRXN3	Single nucleotide variant (intron variant)	NRXN3-related disorder	GLikely benign
Select item 590907	NM_001330195.2(NRXN3):c.758-160258G>A	NRXN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 236381	Single allele	LOC132090271, NRXN3 +4 more	Deletion	Autism spectrum disorder	GUncertain significance
Select item 3038930	NM_001330195.2(NRXN3):c.792A>T (p.Ser264=)	LOC132090271, NRXN3	Single nucleotide variant (synonymous variant +2 more)	NRXN3-related disorder	GBenign
Select item 3033401	NM_001330195.2(NRXN3):c.825G>A (p.Pro275=)	NRXN3	Single nucleotide variant (synonymous variant +2 more)	NRXN3-related disorder	GLikely benign
Select item 3034888	NM_001330195.2(NRXN3):c.879C>T (p.Asn293=)	NRXN3	Single nucleotide variant (synonymous variant +2 more)	NRXN3-related disorder	GLikely benign
Select item 3047534	NM_001330195.2(NRXN3):c.915T>C (p.Tyr305=)	NRXN3	Single nucleotide variant (synonymous variant +2 more)	NRXN3-related disorder	GLikely benign
Select item 3046824	NM_001330195.2(NRXN3):c.1035C>T (p.Val345=)	NRXN3	Single nucleotide variant (synonymous variant +2 more)	NRXN3-related disorder	GLikely benign
Select item 3054142	NM_001330195.2(NRXN3):c.1060-10C>T	NRXN3	Single nucleotide variant (intron variant)	NRXN3-related disorder	GLikely benign
Select item 778516	NM_001330195.2(NRXN3):c.1128C>A (p.Gly376=)	NRXN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 768667	NM_001330195.2(NRXN3):c.1203C>T (p.Phe401=)	NRXN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1098590	NM_001330195.2(NRXN3):c.1247G>A (p.Arg416His)	LOC105370589, NRXN3 (R416H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2369711	NM_001330195.2(NRXN3):c.1282A>T (p.Thr428Ser)	LOC105370589, NRXN3 (T432S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507672	NM_001330195.2(NRXN3):c.1303G>A (p.Glu435Lys)	LOC105370589, NRXN3 (E435K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 375395	NM_001330195.2(NRXN3):c.1315A>G (p.Lys439Glu)	LOC105370589, NRXN3 (K66E +2 more)	Single nucleotide variant (missense variant +1 more)	Relative macrocephaly +1 more	GPathogenic
Select item 2644427	NM_001330195.2(NRXN3):c.1383C>T (p.Pro461=)	LOC105370589, NRXN3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2429826	NM_001330195.2(NRXN3):c.1394C>T (p.Thr465Ile)	LOC105370589, NRXN3 (T465I +2 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 3039991	NM_001330195.2(NRXN3):c.1541A>C (p.Asp514Ala)	LOC105370589, NRXN3 (D141A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	NRXN3-related disorder	GLikely benign
Select item 2514751	NM_001330195.2(NRXN3):c.1668A>G (p.Ile556Met)	NRXN3 (I560M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 738192	NM_001330195.2(NRXN3):c.1758G>A (p.Pro586=)	NRXN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3047694	NM_001330195.2(NRXN3):c.1962T>C (p.Asn654=)	NRXN3	Single nucleotide variant (synonymous variant +1 more)	NRXN3-related disorder	GLikely benign
Select item 978111	NM_001330195.2(NRXN3):c.2033C>T (p.Thr678Ile)	NRXN3 (T305I +2 more)	Single nucleotide variant (missense variant +1 more)	Autism +1 more	GUncertain significance
Select item 2689613	NM_001330195.2(NRXN3):c.2109T>G (p.His703Gln)	NRXN3 (H703Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 778994	NM_001330195.2(NRXN3):c.2121G>A (p.Glu707=)	NRXN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1266950	NM_001330195.2(NRXN3):c.2175G>A (p.Thr725=)	NRXN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 786252	NM_001330195.2(NRXN3):c.2193C>T (p.Ala731=)	NRXN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3046333	NM_001330195.2(NRXN3):c.2248+10G>A	NRXN3	Single nucleotide variant (intron variant)	NRXN3-related disorder	GLikely benign
Select item 154995	GRCh38/hg38 14q31.1(chr14:78921838-79108374)x1	NRXN3	Copy number loss	See cases	GUncertain significance
Select item 151525	GRCh38/hg38 14q31.1(chr14:78953954-79461926)x1	LOC105370586, LOC126862007 +6 more	Copy number loss	See cases	GLikely pathogenic
Select item 737577	NM_001330195.2(NRXN3):c.2289G>A (p.Glu763=)	NRXN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2471363	NM_001330195.2(NRXN3):c.2322C>A (p.Asn774Lys)	NRXN3 (N401K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202253	NM_001330195.2(NRXN3):c.2348G>A (p.Arg783Gln)	NRXN3 (R410Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049418	NM_001330195.2(NRXN3):c.2358A>G (p.Lys786=)	NRXN3	Single nucleotide variant (synonymous variant +1 more)	NRXN3-related disorder	GLikely benign
Select item 2353090	NM_001330195.2(NRXN3):c.2382T>A (p.Asp794Glu)	NRXN3 (D421E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353091	NM_001330195.2(NRXN3):c.2383G>A (p.Asp795Asn)	NRXN3 (D422N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202254	NM_001330195.2(NRXN3):c.2464C>T (p.Arg822Cys)	NRXN3 (R449C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202255	NM_001330195.2(NRXN3):c.2537T>C (p.Ile846Thr)	NRXN3 (I850T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3236633	NM_001330195.2(NRXN3):c.2547C>A (p.Cys849Ter)	NRXN3 (C476* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3202256	NM_001330195.2(NRXN3):c.2650C>T (p.Leu884Phe)	NRXN3 (L511F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039712	NM_001330195.2(NRXN3):c.2751C>T (p.Asp917=)	NRXN3	Single nucleotide variant (synonymous variant +1 more)	NRXN3-related disorder	GLikely benign
Select item 3057143	NM_001330195.2(NRXN3):c.2778-10_2778-9del	NRXN3	Deletion (intron variant)	NRXN3-related disorder	GBenign
Select item 3046770	NM_001330195.2(NRXN3):c.2778-11_2778-9del	NRXN3	Deletion (intron variant)	NRXN3-related disorder	GBenign
Select item 2306830	NM_001330195.2(NRXN3):c.2809G>A (p.Gly937Ser)	NRXN3 (G941S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590069	NM_001330195.2(NRXN3):c.2840G>A (p.Arg947His)	NRXN3 (R947H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202257	NM_001330195.2(NRXN3):c.2843C>T (p.Pro948Leu)	NRXN3 (P575L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058811	NM_001330195.2(NRXN3):c.2871C>T (p.Val957=)	NRXN3	Single nucleotide variant (synonymous variant +1 more)	NRXN3-related disorder	GLikely benign
Select item 750101	NM_001330195.2(NRXN3):c.2969-9C>T	NRXN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 750992	NM_001330195.2(NRXN3):c.2979T>C (p.Tyr993=)	NRXN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2672563	NM_001330195.2(NRXN3):c.2992G>C (p.Ala998Pro)	NRXN3 (A1002P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 154145	GRCh38/hg38 14q31.1(chr14:78968226-79147847)x1	NRXN3	Copy number loss	See cases	GUncertain significance
Select item 2596711	NM_001330195.2(NRXN3):c.3080G>A (p.Arg1027His)	NRXN3 (R1027H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 733956	NM_001330195.2(NRXN3):c.3117C>T (p.Ser1039=)	NRXN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2367964	NM_001330195.2(NRXN3):c.3131G>A (p.Arg1044His)	NRXN3 (R1044H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 375396	NM_001330195.2(NRXN3):c.3142+3A>G	NRXN3	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 762523	NM_001330195.2(NRXN3):c.3143-5A>C	NRXN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2689614	NM_001330195.2(NRXN3):c.3158G>T (p.Cys1053Phe)	NRXN3 (C1053F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 590908	NM_001330195.2(NRXN3):c.3262+210045A>G	NRXN3	Single nucleotide variant (intron variant)	Autism	GUncertain significance
Select item 3041801	NM_001330195.2(NRXN3):c.3263-186911G>A	NRXN3 (A7T)	Single nucleotide variant (missense variant +2 more)	NRXN3-related disorder	GLikely benign
Select item 149273	GRCh38/hg38 14q31.1-31.3(chr14:79330723-85885507)x3	CEP128, DIO2 +58 more	Copy number gain	See cases	GLikely pathogenic
Select item 756345	NM_001330195.2(NRXN3):c.3263-10G>A	NRXN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3202258	NM_001330195.2(NRXN3):c.3340C>T (p.Arg1114Trp)	NRXN3 (R109W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040328	NM_001330195.2(NRXN3):c.3357C>T (p.Ala1119=)	NRXN3	Single nucleotide variant (synonymous variant +1 more)	NRXN3-related disorder	GLikely benign
Select item 149277	GRCh38/hg38 14q31.1(chr14:79543276-79651972)x1	LOC110121354, LOC132090276 +2 more	Copy number loss	See cases	GUncertain significance
Select item 737903	NM_001330195.2(NRXN3):c.3445-7A>G	NRXN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 797114	NM_001330195.2(NRXN3):c.3540G>A (p.Val1180=)	NRXN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3044564	NM_001330195.2(NRXN3):c.3570C>T (p.Ala1190=)	NRXN3	Single nucleotide variant (synonymous variant +1 more)	NRXN3-related disorder	GLikely benign
Select item 3033507	NM_001330195.2(NRXN3):c.3580G>A (p.Val1194Met)	NRXN3 (V1194M +3 more)	Single nucleotide variant (missense variant +1 more)	NRXN3-related disorder	GUncertain significance
Select item 2408862	NM_001330195.2(NRXN3):c.3607T>C (p.Tyr1203His)	NRXN3 (Y1207H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224691	NM_001330195.2(NRXN3):c.3871C>T (p.Arg1291Trp)	NRXN3 (R1291W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314861	NM_001330195.2(NRXN3):c.3914C>T (p.Thr1305Met)	NRXN3 (T1309M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 714581	NM_001330195.2(NRXN3):c.3945T>C (p.Thr1315=)	NRXN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3202259	NM_001330195.2(NRXN3):c.3989A>C (p.Lys1330Thr)	NRXN3 (K295T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302630	NM_001330195.2(NRXN3):c.3995G>A (p.Arg1332His)	NRXN3 (R1302H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293802	NM_001330195.2(NRXN3):c.4019C>A (p.Thr1340Lys)	NRXN3 (T335K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3036695	NM_001330195.2(NRXN3):c.4086G>A (p.Pro1362=)	NRXN3	Single nucleotide variant (synonymous variant +1 more)	NRXN3-related disorder	GLikely benign
Select item 2630376	NM_001330195.2(NRXN3):c.4094-100G>A	NRXN3 (G398S)	Single nucleotide variant (missense variant +2 more)	NRXN3-related disorder	GUncertain significance
Select item 2635930	NM_001330195.2(NRXN3):c.4094-22_4094-21del	NRXN3 (T424fs)	Microsatellite (frameshift variant +2 more)	NRXN3-related disorder	GUncertain significance
Select item 2429827	NM_001330195.2(NRXN3):c.4097dup (p.Ser1367fs)	NRXN3 (S1337fs +2 more)	Duplication (frameshift variant +2 more)	Autism spectrum disorder	GLikely benign
Select item 2632085	NM_001330195.2(NRXN3):c.4135G>T (p.Ala1379Ser)	NRXN3 (A1349S +2 more)	Single nucleotide variant (missense variant +2 more)	NRXN3-related disorder	GUncertain significance
Select item 2672564	NM_001330195.2(NRXN3):c.4217C>T (p.Ser1406Phe)	NRXN3 (S1376F +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2644428	NM_001330195.2(NRXN3):c.4261G>T (p.Val1421Leu)	NRXN3 (V1391L +2 more)	Single nucleotide variant (missense variant +2 more)	NRXN3-related disorder +1 more	GBenign/Likely benign
Select item 3040453	NM_001330195.2(NRXN3):c.4377A>G (p.Pro1459=)	NRXN3	Single nucleotide variant (synonymous variant +2 more)	NRXN3-related disorder	GLikely benign

<< First< Prev

Page of 2