ClinVar for Gene (Select 1116) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3144338	NM_001276.4(CHI3L1):c.730A>C (p.Met244Leu)	CHI3L1 (M244L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3144336	NM_001276.4(CHI3L1):c.58T>G (p.Ser20Ala)	CHI3L1 (S20A)	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 3144334	NM_001276.4(CHI3L1):c.539C>T (p.Ala180Val)	CHI3L1 (A180V)	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 3144332	NM_001276.4(CHI3L1):c.349C>T (p.Arg117Trp)	CHI3L1 (R117W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3144330	NM_001276.4(CHI3L1):c.133G>A (p.Ala45Thr)	CHI3L1 (A45T)	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 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 2616845	NM_001276.4(CHI3L1):c.626A>G (p.His209Arg)	CHI3L1 (H209R)	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 2606700	NM_001276.4(CHI3L1):c.1004A>G (p.Lys335Arg)	CHI3L1 (K335R)	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 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 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 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 2469389	NM_001276.4(CHI3L1):c.14C>T (p.Ala5Val)	CHI3L1 (A5V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2464152	NM_001276.4(CHI3L1):c.910C>T (p.Arg304Cys)	CHI3L1 (R304C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	C4BPA, FMOD +110 more	Duplication	not provided	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 2384557	NM_001276.4(CHI3L1):c.671G>A (p.Arg224Gln)	CHI3L1 (R224Q)	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 2350622	NM_001276.4(CHI3L1):c.689G>A (p.Ser230Asn)	CHI3L1 (S230N)	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 2334584	NM_001276.4(CHI3L1):c.782T>C (p.Phe261Ser)	CHI3L1 (F261S)	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 2234409	NM_001276.4(CHI3L1):c.767T>C (p.Met256Thr)	CHI3L1 (M256T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2213324	NM_001276.4(CHI3L1):c.371C>T (p.Pro124Leu)	CHI3L1 (P124L)	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 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CSRP1, PPFIA4 +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 734877	NM_001276.4(CHI3L1):c.723G>A (p.Val241=)	CHI3L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715856	NM_001276.4(CHI3L1):c.348C>A (p.Arg116=)	CHI3L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +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	ABCB10, ACBD3 +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
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932244, LOC129932245 +1147 more	Copy number gain	See cases	GPathogenic
Select item 8112	NM_001276.2(CHI3L1):c.-131C>G	CHI3L1	Single nucleotide variant	Asthma-related traits, susceptibility to, 7	Grisk factor

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Links from Gene

Items: 55