"Ambry Genetics"[submitter] AND "NLGN3"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 588054	NM_181303.2(NLGN3):c.-5G>A	NLGN3	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 425503	NM_181303.2(NLGN3):c.10C>T (p.Arg4Trp)	NLGN3 (R4W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1743952	NM_181303.2(NLGN3):c.48C>T (p.Pro16=)	NLGN3	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 589123	NM_181303.2(NLGN3):c.51G>A (p.Thr17=)	NLGN3	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1767897	NM_181303.2(NLGN3):c.96G>A (p.Ala32=)	NLGN3	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1048954	NM_181303.2(NLGN3):c.170C>T (p.Pro57Leu)	NLGN3 (P57L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 520912	NM_181303.2(NLGN3):c.214dup (p.Val72fs)	NLGN3 (V72fs)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 1788074	NM_181303.2(NLGN3):c.222C>T (p.Tyr74=)	NLGN3	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1789226	NM_181303.2(NLGN3):c.229C>T (p.Pro77Ser)	NLGN3 (P77S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391251	NM_181303.2(NLGN3):c.241G>A (p.Glu81Lys)	NLGN3 (E81K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 95926	NM_181303.2(NLGN3):c.282G>A (p.Ser94=)	NLGN3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3200429	NM_181303.2(NLGN3):c.307C>A (p.Pro103Thr)	NLGN3 (P103T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1738133	NM_181303.2(NLGN3):c.413A>G (p.Asn138Ser)	NLGN3 (N138S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1738241	NM_181303.2(NLGN3):c.414C>T (p.Asn138=)	NLGN3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3227218	NM_181303.2(NLGN3):c.484C>T (p.Arg162Ter)	NLGN3 (R162*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1745802	NM_181303.2(NLGN3):c.577+1G>A	NLGN3	Single nucleotide variant (splice donor variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 95927	NM_181303.2(NLGN3):c.594T>C (p.Gly198=)	NLGN3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 290693	NM_181303.2(NLGN3):c.603C>G (p.Pro201=)	NLGN3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2279382	NM_181303.2(NLGN3):c.625G>A (p.Gly209Ser)	NLGN3 (G209S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 588988	NM_181303.2(NLGN3):c.642G>C (p.Gly214=)	NLGN3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1752998	NM_181303.2(NLGN3):c.694G>A (p.Val232Ile)	NLGN3 (V232I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1753105	NM_181303.2(NLGN3):c.696C>T (p.Val232=)	NLGN3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2530077	NM_181303.2(NLGN3):c.754G>T (p.Ala252Ser)	NLGN3 (A115S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 722540	NM_181303.2(NLGN3):c.807C>T (p.Ser269=)	NLGN3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1760016	NM_181303.2(NLGN3):c.825C>T (p.Phe275=)	NLGN3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2264510	NM_181303.2(NLGN3):c.826G>A (p.Gly276Arg)	NLGN3 (G256R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1761694	NM_181303.2(NLGN3):c.861G>A (p.Ser287=)	NLGN3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1768141	NM_181303.2(NLGN3):c.1036G>A (p.Val346Met)	NLGN3 (V209M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1770491	NM_181303.2(NLGN3):c.1089G>A (p.Gln363=)	NLGN3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1776965	NM_181303.2(NLGN3):c.1110C>T (p.Tyr370=)	NLGN3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1740097	NM_181303.2(NLGN3):c.1233C>G (p.Leu411=)	NLGN3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2262800	NM_181303.2(NLGN3):c.1371G>A (p.Met457Ile)	NLGN3 (M437I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200428	NM_181303.2(NLGN3):c.1513G>A (p.Ala505Thr)	NLGN3 (A465T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525944	NM_181303.2(NLGN3):c.1573G>T (p.Asp525Tyr)	NLGN3 (D485Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245138	NM_181303.2(NLGN3):c.1760G>A (p.Arg587His)	NLGN3 (R587H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 728059	NM_181303.2(NLGN3):c.1818C>T (p.Ile606=)	NLGN3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1782065	NM_181303.2(NLGN3):c.1950G>A (p.Pro650=)	NLGN3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 167363	NM_181303.2(NLGN3):c.1954A>G (p.Thr652Ala)	NLGN3 (T632A +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 589723	NM_181303.2(NLGN3):c.1976C>A (p.Thr659Asn)	NLGN3 (T639N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1783348	NM_181303.2(NLGN3):c.2018C>A (p.Ala673Asp)	NLGN3 (A633D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 167365	NM_181303.2(NLGN3):c.2034C>T (p.Tyr678=)	NLGN3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1783800	NM_181303.2(NLGN3):c.2040C>T (p.Asn680=)	NLGN3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GBenign
Select item 2612284	NM_181303.2(NLGN3):c.2215G>A (p.Glu739Lys)	NLGN3 (E719K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 587973	NM_181303.2(NLGN3):c.2220C>T (p.Pro740=)	NLGN3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 95925	NM_181303.2(NLGN3):c.2250C>T (p.Ala750=)	NLGN3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 2324169	NM_181303.2(NLGN3):c.2320G>A (p.Glu774Lys)	NLGN3 (E637K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1788871	NM_181303.2(NLGN3):c.2337C>A (p.Pro779=)	NLGN3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 725262	NM_181303.2(NLGN3):c.2370C>T (p.Pro790=)	NLGN3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 985520	NM_181303.2(NLGN3):c.2435C>G (p.Thr812Ser)	NLGN3 (T675S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2628709	NM_181303.2(NLGN3):c.2540G>A (p.Arg847Gln)	NLGN3 (R710Q +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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Items: 51