CCR3[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145538	GRCh38/hg38 3p21.31(chr3:45691931-46277910)x3	CCR1, CCR3 +23 more	Copy number gain	See cases	GLikely benign
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 2375914	NM_178329.3(CCR3):c.74A>T (p.Glu25Val)	CCR3 (E25V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237683	NM_178329.3(CCR3):c.157G>A (p.Val53Met)	CCR3 (V71M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242407	NM_178329.3(CCR3):c.224A>G (p.Asn75Ser)	CCR3 (N75S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140078	NM_178329.3(CCR3):c.315G>A (p.Met105Ile)	CCR3 (M123I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140079	NM_178329.3(CCR3):c.412G>T (p.Ala138Ser)	CCR3 (A159S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401123	NM_178329.3(CCR3):c.428G>A (p.Arg143Gln)	CCR3 (R161Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229992	NM_178329.3(CCR3):c.440T>C (p.Val147Ala)	CCR3 (V147A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402080	NM_178329.3(CCR3):c.458C>T (p.Thr153Ile)	CCR3 (T153I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309593	NM_178329.3(CCR3):c.569A>G (p.Asp190Gly)	CCR3 (D211G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140080	NM_178329.3(CCR3):c.597C>A (p.His199Gln)	CCR3 (H217Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140081	NM_178329.3(CCR3):c.611C>T (p.Thr204Ile)	CCR3 (T225I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243987	NM_178329.3(CCR3):c.646G>A (p.Ala216Thr)	CCR3 (A237T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140082	NM_178329.3(CCR3):c.736G>A (p.Ala246Thr)	CCR3 (A264T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140083	NM_178329.3(CCR3):c.742T>G (p.Phe248Val)	CCR3 (F266V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622246	NM_178329.3(CCR3):c.766A>G (p.Asn256Asp)	CCR3 (N256D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484558	NM_178329.3(CCR3):c.910G>T (p.Val304Phe)	CCR3 (V325F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140084	NM_178329.3(CCR3):c.921G>T (p.Arg307Ser)	CCR3 (R328S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596772	NM_178329.3(CCR3):c.926G>A (p.Arg309Gln)	CCR3 (R330Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3140085	NM_178329.3(CCR3):c.962T>G (p.Leu321Arg)	CCR3 (L321R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348139	NM_178329.3(CCR3):c.1028C>T (p.Ser343Phe)	CCR3 (S364F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285650	NM_178329.3(CCR3):c.1046C>T (p.Pro349Leu)	CCR3 (P367L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	ALS2CL, ARIH2 +71 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	AMT, APEH +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 395576	GRCh37/hg19 3p21.31(chr3:46243839-46307968)x3	CCR1, CCR3	Copy number gain	See cases	GLikely benign
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 30