CHI3L1[gene] - ClinVar

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

Search results

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 3267007	NM_001276.4(CHI3L1):c.1148C>T (p.Thr383Met)	CHI3L1 (T383M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521834	NM_001276.4(CHI3L1):c.1088T>G (p.Phe363Cys)	CHI3L1 (F363C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507933	NM_001276.4(CHI3L1):c.1082G>A (p.Gly361Asp)	CHI3L1 (G361D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144329	NM_001276.4(CHI3L1):c.1040C>T (p.Ala347Val)	CHI3L1 (A347V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606700	NM_001276.4(CHI3L1):c.1004A>G (p.Lys335Arg)	CHI3L1 (K335R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267009	NM_001276.4(CHI3L1):c.998G>T (p.Ser333Ile)	CHI3L1 (S333I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539152	NM_001276.4(CHI3L1):c.982T>C (p.Tyr328His)	CHI3L1 (Y328H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537806	NM_001276.4(CHI3L1):c.950C>G (p.Pro317Arg)	CHI3L1 (P317R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267006	NM_001276.4(CHI3L1):c.937G>A (p.Gly313Ser)	CHI3L1 (G313S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464152	NM_001276.4(CHI3L1):c.910C>T (p.Arg304Cys)	CHI3L1 (R304C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267010	NM_001276.4(CHI3L1):c.820G>A (p.Val274Ile)	CHI3L1 (V274I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334584	NM_001276.4(CHI3L1):c.782T>C (p.Phe261Ser)	CHI3L1 (F261S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388827	NM_001276.4(CHI3L1):c.779C>G (p.Thr260Ser)	CHI3L1 (T260S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234409	NM_001276.4(CHI3L1):c.767T>C (p.Met256Thr)	CHI3L1 (M256T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144338	NM_001276.4(CHI3L1):c.730A>C (p.Met244Leu)	CHI3L1 (M244L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734877	NM_001276.4(CHI3L1):c.723G>A (p.Val241=)	CHI3L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3144337	NM_001276.4(CHI3L1):c.689G>T (p.Ser230Ile)	CHI3L1 (S230I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350622	NM_001276.4(CHI3L1):c.689G>A (p.Ser230Asn)	CHI3L1 (S230N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384557	NM_001276.4(CHI3L1):c.671G>A (p.Arg224Gln)	CHI3L1 (R224Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468845	NM_001276.4(CHI3L1):c.638G>A (p.Arg213His)	CHI3L1 (R213H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616845	NM_001276.4(CHI3L1):c.626A>G (p.His209Arg)	CHI3L1 (H209R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267008	NM_001276.4(CHI3L1):c.616T>C (p.Tyr206His)	CHI3L1 (Y206H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144335	NM_001276.4(CHI3L1):c.578A>G (p.Lys193Arg)	CHI3L1 (K193R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615952	NM_001276.4(CHI3L1):c.540G>A (p.Ala180=)	CHI3L1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3144334	NM_001276.4(CHI3L1):c.539C>T (p.Ala180Val)	CHI3L1 (A180V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343670	NM_001276.4(CHI3L1):c.526G>A (p.Ala176Thr)	CHI3L1 (A176T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339541	NM_001276.4(CHI3L1):c.476C>A (p.Ala159Asp)	CHI3L1 (A159D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303246	NM_001276.4(CHI3L1):c.388C>A (p.His130Asn)	CHI3L1 (H130N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144333	NM_001276.4(CHI3L1):c.382C>T (p.Arg128Cys)	CHI3L1 (R128C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213324	NM_001276.4(CHI3L1):c.371C>T (p.Pro124Leu)	CHI3L1 (P124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144332	NM_001276.4(CHI3L1):c.349C>T (p.Arg117Trp)	CHI3L1 (R117W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715856	NM_001276.4(CHI3L1):c.348C>A (p.Arg116=)	CHI3L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3144331	NM_001276.4(CHI3L1):c.304G>T (p.Gly102Trp)	CHI3L1 (G102W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3362669	NM_001276.4(CHI3L1):c.258-2A>C	CHI3L1	Single nucleotide variant (splice acceptor variant)	Schizophrenia	GUncertain significance
Select item 2533777	NM_001276.4(CHI3L1):c.199G>A (p.Asp67Asn)	CHI3L1 (D67N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528996	NM_001276.4(CHI3L1):c.158A>T (p.His53Leu)	CHI3L1 (H53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144330	NM_001276.4(CHI3L1):c.133G>A (p.Ala45Thr)	CHI3L1 (A45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208402	NM_001276.4(CHI3L1):c.112G>A (p.Asp38Asn)	CHI3L1 (D38N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144339	NM_001276.4(CHI3L1):c.86C>T (p.Thr29Ile)	CHI3L1 (T29I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556340	NM_001276.4(CHI3L1):c.61G>A (p.Ala21Thr)	CHI3L1 (A21T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144336	NM_001276.4(CHI3L1):c.58T>G (p.Ser20Ala)	CHI3L1 (S20A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469389	NM_001276.4(CHI3L1):c.14C>T (p.Ala5Val)	CHI3L1 (A5V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2214720	NM_001276.4(CHI3L1):c.14C>A (p.Ala5Glu)	CHI3L1 (A5E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360308	NM_001276.4(CHI3L1):c.13G>A (p.Ala5Thr)	CHI3L1 (A5T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 8112	NM_001276.2(CHI3L1):c.-131C>G	CHI3L1	Single nucleotide variant	Asthma-related traits, susceptibility to, 7	Grisk factor
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 814155	GRCh37/hg19 1q32.1(chr1:203078722-203210585)x1	CHI3L1, CHIT1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 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 394404	GRCh37/hg19 1q32.1(chr1:203134126-203160335)x3	ADORA1, CHI3L1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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: 62