NLGN1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 117

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 156900	NM_014932.4(NLGN1):c.-320-82616_-320-12230dup	NLGN1	Duplication	Large for gestational age	Gnot provided
Select item 156899	NM_014932.4(NLGN1):c.-320-82616_-320-21032dup	NLGN1	Duplication	Preeclampsia	Gnot provided
Select item 2689589	NM_001365925.2(NLGN1):c.19A>G (p.Thr7Ala)	NLGN1 (T7A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2303983	NM_001365925.2(NLGN1):c.53C>A (p.Ala18Glu)	NLGN1 (A18E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299948	NM_001365925.2(NLGN1):c.68G>A (p.Arg23Gln)	NLGN1 (R23Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312074	NM_001365925.2(NLGN1):c.71G>A (p.Gly24Glu)	NLGN1 (G24E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 872967	NM_001365925.2(NLGN1):c.74T>A (p.Leu25Ter)	NLGN1 (L25*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2467816	NM_001365925.2(NLGN1):c.82C>G (p.Pro28Ala)	NLGN1 (P28A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3043147	NM_001365925.2(NLGN1):c.111G>A (p.Leu37=)	NLGN1	Single nucleotide variant (synonymous variant)	NLGN1-related disorder	GLikely benign
Select item 2543147	NM_001365925.2(NLGN1):c.202G>C (p.Glu68Gln)	NLGN1 (E68Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3041754	NM_001365925.2(NLGN1):c.208A>G (p.Asn70Asp)	NLGN1 (N70D)	Single nucleotide variant (missense variant)	NLGN1-related disorder	GUncertain significance
Select item 2345773	NM_001365925.2(NLGN1):c.209A>G (p.Asn70Ser)	NLGN1 (N70S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299950	NM_001365925.2(NLGN1):c.211A>T (p.Asn71Tyr)	NLGN1 (N71Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284074	NM_001365925.2(NLGN1):c.221T>G (p.Leu74Trp)	NLGN1 (L74W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299946	NM_001365925.2(NLGN1):c.247G>A (p.Val83Ile)	NLGN1 (V83I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2513511	NM_001365925.2(NLGN1):c.259G>T (p.Ala87Ser)	NLGN1 (A87S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1334628	NM_001365925.2(NLGN1):c.262C>T (p.Pro88Ser)	NLGN1 (P88S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872964	NM_001365925.2(NLGN1):c.266C>T (p.Pro89Leu)	NLGN1 (P89L)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 20	Grisk factor
Select item 2207619	NM_001365925.2(NLGN1):c.278G>A (p.Arg93His)	NLGN1 (R93H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2522068	NM_001365925.2(NLGN1):c.295G>C (p.Glu99Gln)	NLGN1 (E99Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1691009	NM_001365925.2(NLGN1):c.298C>T (p.Pro100Ser)	NLGN1 (P100S)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2610584	NM_001365925.2(NLGN1):c.307C>T (p.Pro103Ser)	NLGN1 (P103S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057393	NM_001365925.2(NLGN1):c.348G>A (p.Val116=)	NLGN1	Single nucleotide variant (synonymous variant)	NLGN1-related disorder	GBenign
Select item 2492245	NM_001365925.2(NLGN1):c.443A>G (p.Asp148Gly)	NLGN1 (D148G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057547	NM_001365925.2(NLGN1):c.483G>A (p.Pro161=)	NLGN1	Single nucleotide variant (synonymous variant)	NLGN1-related disorder	GLikely benign
Select item 3037839	NM_001365925.2(NLGN1):c.554-7382C>T	NLGN1 (L167F)	Single nucleotide variant (missense variant +1 more)	NLGN1-related disorder	GLikely benign
Select item 2430299	NM_001365925.2(NLGN1):c.554-7372_554-7369del	NLGN1 (K170fs)	Deletion (frameshift variant +1 more)	See cases	GUncertain significance
Select item 2242936	NM_001365925.2(NLGN1):c.559C>T (p.Arg187Trp)	NLGN1 (R167W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 788975	NM_001365925.2(NLGN1):c.591G>A (p.Val197=)	NLGN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2234250	NM_001365925.2(NLGN1):c.595A>G (p.Ile199Val)	NLGN1 (I179V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200420	NM_001365925.2(NLGN1):c.688T>A (p.Tyr230Asn)	NLGN1 (Y210N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 218711	NM_001365925.2(NLGN1):c.705C>T (p.Leu235=)	NLGN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2654280	NM_001365925.2(NLGN1):c.706G>A (p.Gly236Ser)	NLGN1 (G216S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 146672	GRCh38/hg38 3q26.31(chr3:174229965-174748860)x3	LOC126806876, NAALADL2 +1 more	Copy number gain	See cases	GUncertain significance
Select item 2323831	NM_001365925.2(NLGN1):c.763A>T (p.Ile255Leu)	NLGN1 (I255L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3349759	NM_001365925.2(NLGN1):c.777_779dup (p.Trp260Ter)	NLGN1 (W240* +1 more)	Duplication (nonsense)	NLGN1-related disorder	GUncertain significance
Select item 2635378	NM_001365925.2(NLGN1):c.835G>T (p.Gly279Ter)	NLGN1 (G259* +1 more)	Single nucleotide variant (nonsense)	NLGN1-related disorder	GUncertain significance
Select item 872965	NM_001365925.2(NLGN1):c.866T>C (p.Leu289Pro)	NLGN1 (L289P)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 20	Grisk factor
Select item 3200422	NM_001365925.2(NLGN1):c.899G>A (p.Arg300His)	NLGN1 (R280H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 872966	NM_001365925.2(NLGN1):c.950G>A (p.Gly317Glu)	NLGN1 (G288E +1 more)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 20	Grisk factor
Select item 2210130	NM_001365925.2(NLGN1):c.973G>A (p.Val325Ile)	NLGN1 (V305I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3031474	NM_001365925.2(NLGN1):c.989C>A (p.Ala330Glu)	NLGN1 (A301E +2 more)	Single nucleotide variant (missense variant)	NLGN1-related disorder	GLikely benign
Select item 716767	NM_001365925.2(NLGN1):c.1002A>G (p.Arg334=)	NLGN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2604623	NM_001365925.2(NLGN1):c.1028A>G (p.Asn343Ser)	NLGN1 (N323S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057261	NM_001365925.2(NLGN1):c.1047G>A (p.Glu349=)	NLGN1	Single nucleotide variant (synonymous variant)	NLGN1-related disorder	GLikely benign
Select item 3200410	NM_001365925.2(NLGN1):c.1095A>C (p.Gln365His)	NLGN1 (Q336H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546011	NM_001365925.2(NLGN1):c.1253A>G (p.Asn418Ser)	NLGN1 (N418S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250770	NM_001365925.2(NLGN1):c.1261G>T (p.Asp421Tyr)	NLGN1 (D421Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346729	NM_001365925.2(NLGN1):c.1265G>A (p.Ser422Asn)	NLGN1 (S393N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2600423	NM_001365925.2(NLGN1):c.1333T>C (p.Tyr445His)	NLGN1 (Y425H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 722903	NM_001365925.2(NLGN1):c.1368T>C (p.Ile456=)	NLGN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1260332	NM_001365925.2(NLGN1):c.1422G>A (p.Lys474=)	NLGN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3200411	NM_001365925.2(NLGN1):c.1479G>A (p.Ala493=)	NLGN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 752480	NM_001365925.2(NLGN1):c.1509G>T (p.Thr503=)	NLGN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3200412	NM_001365925.2(NLGN1):c.1528C>T (p.His510Tyr)	NLGN1 (H481Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200413	NM_001365925.2(NLGN1):c.1529A>T (p.His510Leu)	NLGN1 (H481L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066074	NM_001365925.2(NLGN1):c.1634C>T (p.Pro545Leu)	NLGN1 (P516L +2 more)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 20	GUncertain significance
Select item 2317274	NM_001365925.2(NLGN1):c.1657G>A (p.Val553Met)	NLGN1 (V524M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3031844	NM_001365925.2(NLGN1):c.1702A>G (p.Lys568Glu)	NLGN1 (K539E +2 more)	Single nucleotide variant (missense variant)	NLGN1-related disorder	GUncertain significance
Select item 3057343	NM_001365925.2(NLGN1):c.1709+7A>G	NLGN1	Single nucleotide variant (intron variant)	NLGN1-related disorder	GLikely benign
Select item 2371274	NM_001365925.2(NLGN1):c.1727T>A (p.Val576Asp)	NLGN1 (V547D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200414	NM_001365925.2(NLGN1):c.1833A>T (p.Lys611Asn)	NLGN1 (K582N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2692471	NM_001365925.2(NLGN1):c.1879T>G (p.Leu627Val)	NLGN1 (L598V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3299949	NM_001365925.2(NLGN1):c.1951T>G (p.Ser651Ala)	NLGN1 (S622A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299947	NM_001365925.2(NLGN1):c.2000C>A (p.Thr667Lys)	NLGN1 (T667K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2689588	NM_001365925.2(NLGN1):c.2024A>G (p.Gln675Arg)	NLGN1 (Q646R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2229677	NM_001365925.2(NLGN1):c.2032C>G (p.Pro678Ala)	NLGN1 (P649A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 718849	NM_001365925.2(NLGN1):c.2070G>A (p.Arg690=)	NLGN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1364770	NM_001365925.2(NLGN1):c.2080A>G (p.Thr694Ala)	NLGN1 (T665A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2542093	NM_001365925.2(NLGN1):c.2206C>T (p.Arg736Cys)	NLGN1 (R716C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2689587	NM_001365925.2(NLGN1):c.2207G>T (p.Arg736Leu)	NLGN1 (R707L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2511565	NM_001365925.2(NLGN1):c.2219A>G (p.Asn740Ser)	NLGN1 (N740S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200415	NM_001365925.2(NLGN1):c.2223T>G (p.Asp741Glu)	NLGN1 (D741E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3200416	NM_001365925.2(NLGN1):c.2251A>G (p.Met751Val)	NLGN1 (M722V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212346	NM_001365925.2(NLGN1):c.2272A>G (p.Thr758Ala)	NLGN1 (T729A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200417	NM_001365925.2(NLGN1):c.2329G>A (p.Ala777Thr)	NLGN1 (A757T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3056951	NM_001365925.2(NLGN1):c.2394C>T (p.Pro798=)	NLGN1	Single nucleotide variant (synonymous variant)	NLGN1-related disorder	GBenign
Select item 729091	NM_001365925.2(NLGN1):c.2403T>C (p.Ile801=)	NLGN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2633699	NM_001365925.2(NLGN1):c.2428G>A (p.Gly810Arg)	NLGN1 (G781R +2 more)	Single nucleotide variant (missense variant)	NLGN1-related disorder	GUncertain significance
Select item 2246545	NM_001365925.2(NLGN1):c.2444A>G (p.His815Arg)	NLGN1 (H815R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233605	NM_001365925.2(NLGN1):c.2480C>T (p.Thr827Ile)	NLGN1 (T798I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200418	NM_001365925.2(NLGN1):c.2497C>T (p.Pro833Ser)	NLGN1 (P813S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2654281	NM_001365925.2(NLGN1):c.2524A>G (p.Arg842Gly)	NLGN1 (R813G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 978167	NM_001365925.2(NLGN1):c.2532G>A (p.Ter844=)	NLGN1	Single nucleotide variant (synonymous variant)	Autism +1 more	GUncertain significance
Select item 3062706	GRCh37/hg19 3q26.31(chr3:172382427-173592368)x3	ECT2, NCEH1 +2 more	Copy number gain	not specified	GUncertain significance
Select item 2685939	GRCh37/hg19 3q26.31(chr3:173965578-174305946)x3	NLGN1	Copy number gain	not provided	GUncertain significance
Select item 2685938	GRCh37/hg19 3q26.31(chr3:173646950-174003055)x3	NLGN1	Copy number gain	not provided	GUncertain significance
Select item 2685937	GRCh37/hg19 3q26.31(chr3:171835889-173764343)x3	ECT2, FNDC3B +5 more	Copy number gain	not provided	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic

<< First< Prev

Page of 2