ClinVar for Gene (Select 1117) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3144346	NM_004000.3(CHI3L2):c.899G>C (p.Gly300Ala)	CHI3L2 (G221A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144345	NM_004000.3(CHI3L2):c.85C>G (p.Leu29Val)	CHI3L2 (L19V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144344	NM_004000.3(CHI3L2):c.773C>T (p.Pro258Leu)	CHI3L2 (P248L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144343	NM_004000.3(CHI3L2):c.424G>A (p.Val142Ile)	CHI3L2, LOC126805828 (V132I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3144342	NM_004000.3(CHI3L2):c.330G>A (p.Gly110=)	CHI3L2, LOC126805828	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3144341	NM_004000.3(CHI3L2):c.190G>A (p.Ala64Thr)	CHI3L2 (A64T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144340	NM_004000.3(CHI3L2):c.1153A>G (p.Arg385Gly)	CHI3L2 (R385G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063454	GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1	ADORA3, AHCYL1 +48 more	Copy number loss	not specified	GUncertain significance
Select item 3062733	GRCh37/hg19 1p13.3-13.2(chr1:111277065-111804157)x1	CD53, CEPT1 +4 more	Copy number loss	not specified	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2609902	NM_004000.3(CHI3L2):c.790A>T (p.Met264Leu)	CHI3L2 (M264L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600922	NM_004000.3(CHI3L2):c.644A>G (p.His215Arg)	CHI3L2 (H136R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588531	NM_004000.3(CHI3L2):c.386T>C (p.Ile129Thr)	CHI3L2, LOC126805828 (I129T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560190	NM_004000.3(CHI3L2):c.701G>T (p.Trp234Leu)	CHI3L2 (W234L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538464	NM_004000.3(CHI3L2):c.58C>T (p.Leu20Phe)	CHI3L2 (L20F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2516315	NM_004000.3(CHI3L2):c.712G>A (p.Gly238Arg)	CHI3L2 (G159R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490656	NM_004000.3(CHI3L2):c.290T>A (p.Ile97Asn)	CHI3L2 (I18N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474308	NM_004000.3(CHI3L2):c.1084A>G (p.Ile362Val)	CHI3L2 (I352V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455479	NM_004000.3(CHI3L2):c.980C>T (p.Ala327Val)	CHI3L2 (A317V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424614	NC_000001.10:g.(?_111145905)_(114454813_?)del	ADORA3, AP4B1 +34 more	Deletion	not provided	GPathogenic
Select item 2389734	NM_004000.3(CHI3L2):c.518C>T (p.Ser173Phe)	CHI3L2, LOC126805828 (S163F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373658	NM_004000.3(CHI3L2):c.68G>A (p.Gly23Glu)	CHI3L2 (G23E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2371123	NM_004000.3(CHI3L2):c.226A>G (p.Lys76Glu)	CHI3L2 (K76E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367132	NM_004000.3(CHI3L2):c.316T>C (p.Phe106Leu)	CHI3L2 (F96L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363387	NM_004000.3(CHI3L2):c.979G>A (p.Ala327Thr)	CHI3L2 (A317T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319383	NM_004000.3(CHI3L2):c.754T>C (p.Trp252Arg)	CHI3L2 (W242R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286285	NM_004000.3(CHI3L2):c.118C>T (p.Arg40Trp)	CHI3L2 (R30W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276990	NM_004000.3(CHI3L2):c.586C>G (p.Gln196Glu)	CHI3L2 (Q196E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267507	NM_004000.3(CHI3L2):c.950C>T (p.Thr317Met)	CHI3L2 (T317M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247093	NM_004000.3(CHI3L2):c.865C>T (p.Pro289Ser)	CHI3L2 (P289S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225289	NM_004000.3(CHI3L2):c.31C>A (p.Leu11Ile)	CHI3L2 (L11I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 769524	NM_004000.3(CHI3L2):c.550G>A (p.Val184Ile)	CHI3L2, LOC126805828 (V105I +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 725533	NM_004000.3(CHI3L2):c.264C>T (p.Leu88=)	CHI3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723214	NM_004000.3(CHI3L2):c.1168C>T (p.Leu390=)	CHI3L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688916	GRCh37/hg19 1p13.3-13.2(chr1:110994179-112360446)x1	ADORA3, ATP5PB +19 more	Copy number loss	not provided	GPathogenic
Select item 546606	NM_004000.3(CHI3L2):c.1159del (p.Gly388fs)	CHI3L2 (G388fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 402537	NM_004000.3(CHI3L2):c.952C>T (p.Arg318Trp)	CHI3L2 (R318W +2 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129388571, LOC129388572 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 49