"GeneDx"[submitter] AND "NLGN3"[gene] - ClinVar

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

Search results

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 145167	GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3	ABCB7, AMER1 +263 more	Copy number gain	See cases	GPathogenic
Select item 58641	GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2	ABCB7, ARR3 +161 more	Copy number gain	See cases	GPathogenic
Select item 2412926	NM_181303.2(NLGN3):c.2T>G (p.Met1Arg)	NLGN3 (M1R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2580694	NM_181303.2(NLGN3):c.93G>C (p.Leu31Phe)	NLGN3 (L31F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2428992	NM_181303.2(NLGN3):c.160G>A (p.Ala54Thr)	NLGN3 (A54T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370144	NM_181303.2(NLGN3):c.171del (p.Leu58fs)	NLGN3 (L58fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2502772	NM_181303.2(NLGN3):c.178A>G (p.Ser60Gly)	NLGN3 (S60G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3343376	NM_181303.2(NLGN3):c.184A>G (p.Ile62Val)	NLGN3 (I62V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1806786	NM_181303.2(NLGN3):c.226G>A (p.Ala76Thr)	NLGN3 (A76T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1305145	NM_181303.2(NLGN3):c.247C>T (p.Arg83Cys)	NLGN3 (R83C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373595	NM_181303.2(NLGN3):c.353T>C (p.Met118Thr)	NLGN3 (M118T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1704069	NM_181303.2(NLGN3):c.457+3G>A	NLGN3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1702603	NM_181303.2(NLGN3):c.610G>T (p.Val204Phe)	NLGN3 (V164F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505721	NM_181303.2(NLGN3):c.616A>G (p.Ile206Val)	NLGN3 (I166V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504990	NM_181303.2(NLGN3):c.658dup (p.Asp220fs)	NLGN3 (D180fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3372040	NM_181303.2(NLGN3):c.685A>C (p.Asn229His)	NLGN3 (N189H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662620	NM_181303.2(NLGN3):c.715G>A (p.Val239Ile)	NLGN3 (V102I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366066	NM_181303.2(NLGN3):c.785T>C (p.Ile262Thr)	NLGN3 (I125T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365324	NM_181303.2(NLGN3):c.808G>A (p.Glu270Lys)	NLGN3 (E133K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309725	NM_181303.2(NLGN3):c.841C>T (p.Arg281Trp)	NLGN3 (R144W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342921	NM_181303.2(NLGN3):c.893C>T (p.Thr298Met)	NLGN3 (T161M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575543	NM_181303.2(NLGN3):c.1052G>A (p.Cys351Tyr)	NLGN3 (C214Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501517	NM_181303.2(NLGN3):c.1390C>T (p.Arg464Cys)	NLGN3 (R327C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723485	NM_181303.2(NLGN3):c.1408C>T (p.Arg470Cys)	NLGN3 (R333C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307628	NM_181303.2(NLGN3):c.1429C>T (p.Leu477Phe)	NLGN3 (L340F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364747	NM_181303.2(NLGN3):c.1487G>A (p.Arg496His)	NLGN3 (R359H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450874	NM_181303.2(NLGN3):c.1583C>G (p.Pro528Arg)	NLGN3 (P508R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369039	NM_181303.2(NLGN3):c.1606G>T (p.Val536Leu)	NLGN3 (V399L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252524	NM_181303.2(NLGN3):c.1632C>A (p.Cys544Ter)	NLGN3 (C407* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1312094	NM_181303.2(NLGN3):c.1709C>T (p.Pro570Leu)	NLGN3 (P433L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576944	NM_181303.2(NLGN3):c.1718C>T (p.Pro573Leu)	NLGN3 (P436L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581812	NM_181303.2(NLGN3):c.1726C>A (p.Gln576Lys)	NLGN3 (Q439K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305713	NM_181303.2(NLGN3):c.2021T>C (p.Ile674Thr)	NLGN3 (I537T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343890	NM_181303.2(NLGN3):c.2104C>T (p.Arg702Cys)	NLGN3 (R565C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 681576	NM_181303.2(NLGN3):c.2142G>A (p.Val714=)	NLGN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 989384	NM_181303.2(NLGN3):c.2161C>T (p.Leu721Phe)	NLGN3 (L584F +3 more)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder +1 more	GUncertain significance
Select item 1308758	NM_181303.2(NLGN3):c.2206C>T (p.Arg736Trp)	NLGN3 (R599W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307127	NM_181303.2(NLGN3):c.2225G>A (p.Arg742Gln)	NLGN3 (R605Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307319	NM_181303.2(NLGN3):c.2243G>T (p.Arg748Leu)	NLGN3 (R611L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370696	NM_181303.2(NLGN3):c.2341C>A (p.His781Asn)	NLGN3 (H644N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 445427	NM_181303.2(NLGN3):c.2353C>T (p.Arg785Cys)	NLGN3 (R765C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2663614	NM_181303.2(NLGN3):c.2481T>A (p.Tyr827Ter)	NLGN3 (Y690* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2572808	NM_181303.2(NLGN3):c.2482A>G (p.Asn828Asp)	NLGN3 (N691D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696984	NM_181303.2(NLGN3):c.2498G>C (p.Gly833Ala)	NLGN3 (G696A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504935	NM_181303.2(NLGN3):c.2510C>T (p.Thr837Ile)	NLGN3 (T700I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ABCB7, AKAP4 +250 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 3361117	NM_181303.2(NLGN3):c.2038A>G (p.Asn680Asp)	NLGN3 (N543D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360811	NM_181303.2(NLGN3):c.713G>A (p.Arg238Gln)	NLGN3 (R101Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360598	NM_181303.2(NLGN3):c.534A>T (p.Lys178Asn)	NLGN3 (K158N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360588	NM_181303.2(NLGN3):c.633del (p.Ser210_Tyr211insTer)	NLGN3	Deletion (nonsense)	not provided	GUncertain significance
Select item 3360134	NM_181303.2(NLGN3):c.200A>G (p.Asp67Gly)	NLGN3 (D67G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 67