LINGO4[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 3119016	NM_001004432.4(LINGO4):c.1760G>A (p.Arg587Gln)	LINGO4 (R587Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290803	NM_001004432.4(LINGO4):c.1759C>T (p.Arg587Trp)	LINGO4 (R587W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119015	NM_001004432.4(LINGO4):c.1738G>A (p.Asp580Asn)	LINGO4 (D580N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249789	NM_001004432.4(LINGO4):c.1685G>T (p.Gly562Val)	LINGO4 (G562V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551854	NM_001004432.4(LINGO4):c.1633A>C (p.Thr545Pro)	LINGO4 (T545P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620551	NM_001004432.4(LINGO4):c.1586G>A (p.Ser529Asn)	LINGO4 (S529N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614974	NM_001004432.4(LINGO4):c.1578T>G (p.Phe526Leu)	LINGO4 (F526L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339418	NM_001004432.4(LINGO4):c.1545C>G (p.Asn515Lys)	LINGO4 (N515K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516585	NM_001004432.4(LINGO4):c.1352A>G (p.His451Arg)	LINGO4 (H451R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226071	NM_001004432.4(LINGO4):c.1292C>T (p.Ala431Val)	LINGO4 (A431V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 438603	NM_001004432.4(LINGO4):c.1262G>A (p.Arg421Gln)	LINGO4 (R421Q)	Single nucleotide variant (missense variant)	Polymicrogyria	GUncertain significance
Select item 2358982	NM_001004432.4(LINGO4):c.1253C>T (p.Ser418Leu)	LINGO4 (S418L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536473	NM_001004432.4(LINGO4):c.1252T>C (p.Ser418Pro)	LINGO4 (S418P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119013	NM_001004432.4(LINGO4):c.1168C>A (p.His390Asn)	LINGO4 (H390N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290800	NM_001004432.4(LINGO4):c.1121G>A (p.Arg374His)	LINGO4 (R374H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356356	NM_001004432.4(LINGO4):c.1117C>T (p.Arg373Cys)	LINGO4 (R373C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290798	NM_001004432.4(LINGO4):c.1094G>A (p.Arg365His)	LINGO4 (R365H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342327	NM_001004432.4(LINGO4):c.1093C>T (p.Arg365Cys)	LINGO4 (R365C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483237	NM_001004432.4(LINGO4):c.1090T>G (p.Cys364Gly)	LINGO4 (C364G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311983	NM_001004432.4(LINGO4):c.1018G>C (p.Glu340Gln)	LINGO4 (E340Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290801	NM_001004432.4(LINGO4):c.961C>T (p.His321Tyr)	LINGO4 (H321Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346534	NM_001004432.4(LINGO4):c.863T>A (p.Ile288Asn)	LINGO4 (I288N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 438604	NM_001004432.4(LINGO4):c.851C>T (p.Ser284Phe)	LINGO4 (S284F)	Single nucleotide variant (missense variant)	Polymicrogyria	GUncertain significance
Select item 2468397	NM_001004432.4(LINGO4):c.787A>C (p.Asn263His)	LINGO4 (N263H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321003	NM_001004432.4(LINGO4):c.782G>A (p.Arg261His)	LINGO4 (R261H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119022	NM_001004432.4(LINGO4):c.781C>T (p.Arg261Cys)	LINGO4 (R261C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119021	NM_001004432.4(LINGO4):c.737C>G (p.Pro246Arg)	LINGO4 (P246R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290802	NM_001004432.4(LINGO4):c.724G>C (p.Glu242Gln)	LINGO4 (E242Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290797	NM_001004432.4(LINGO4):c.709C>T (p.Leu237Phe)	LINGO4 (L237F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337131	NM_001004432.4(LINGO4):c.703A>C (p.Ile235Leu)	LINGO4 (I235L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 932521	NM_001004432.4(LINGO4):c.669C>T (p.Ala223=)	LINGO4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3119020	NM_001004432.4(LINGO4):c.643G>A (p.Asp215Asn)	LINGO4 (D215N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307931	NM_001004432.4(LINGO4):c.565C>G (p.Arg189Gly)	LINGO4 (R189G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119019	NM_001004432.4(LINGO4):c.559C>G (p.Leu187Val)	LINGO4 (L187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317632	NM_001004432.4(LINGO4):c.518C>T (p.Pro173Leu)	LINGO4 (P173L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410409	NM_001004432.4(LINGO4):c.509T>C (p.Phe170Ser)	LINGO4 (F170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521627	NM_001004432.4(LINGO4):c.497A>G (p.Asn166Ser)	LINGO4 (N166S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534853	NM_001004432.4(LINGO4):c.488T>G (p.Val163Gly)	LINGO4 (V163G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290799	NM_001004432.4(LINGO4):c.487G>A (p.Val163Ile)	LINGO4 (V163I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389987	NM_001004432.4(LINGO4):c.469A>G (p.Ser157Gly)	LINGO4 (S157G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567642	NM_001004432.4(LINGO4):c.452C>T (p.Ala151Val)	LINGO4 (A151V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310749	NM_001004432.4(LINGO4):c.443T>C (p.Leu148Pro)	LINGO4 (L148P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119018	NM_001004432.4(LINGO4):c.419G>A (p.Arg140His)	LINGO4 (R140H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387977	NM_001004432.4(LINGO4):c.369G>T (p.Met123Ile)	LINGO4 (M123I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512998	NM_001004432.4(LINGO4):c.245G>A (p.Arg82His)	LINGO4 (R82H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119017	NM_001004432.4(LINGO4):c.244C>T (p.Arg82Cys)	LINGO4 (R82C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247805	NM_001004432.4(LINGO4):c.218G>T (p.Trp73Leu)	LINGO4 (W73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119014	NM_001004432.4(LINGO4):c.170G>C (p.Gly57Ala)	LINGO4 (G57A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474807	NM_001004432.4(LINGO4):c.92G>A (p.Cys31Tyr)	LINGO4 (C31Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230471	NM_001004432.4(LINGO4):c.83G>A (p.Gly28Asp)	LINGO4 (G28D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307312	NM_001004432.4(LINGO4):c.47C>T (p.Pro16Leu)	LINGO4 (P16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CRABP2, LCE2A +228 more	Duplication	Congenital neutropenia-myelofibrosis-nephromegaly syndrome +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic

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Items: 61