XCR1[gene] - ClinVar

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Items: 40

	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 2523656	NM_001024644.2(XCR1):c.950C>T (p.Ser317Leu)	XCR1 (S317L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522978	NM_001024644.2(XCR1):c.925C>T (p.Arg309Trp)	XCR1 (R309W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300148	NM_001024644.2(XCR1):c.908G>A (p.Arg303Gln)	XCR1 (R303Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3333352	NM_001024644.2(XCR1):c.884G>A (p.Arg295His)	XCR1 (R295H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190969	NM_001024644.2(XCR1):c.872G>A (p.Gly291Glu)	XCR1 (G291E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510411	NM_001024644.2(XCR1):c.811A>T (p.Ile271Phe)	XCR1 (I271F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392343	NM_001024644.2(XCR1):c.808C>T (p.Leu270Phe)	XCR1 (L270F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333350	NM_001024644.2(XCR1):c.802G>A (p.Ala268Thr)	XCR1 (A268T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190968	NM_001024644.2(XCR1):c.787C>G (p.Gln263Glu)	XCR1 (Q263E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333351	NM_001024644.2(XCR1):c.658C>T (p.Arg220Cys)	XCR1 (R220C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524027	NM_001024644.2(XCR1):c.656G>A (p.Arg219Gln)	XCR1 (R219Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463545	NM_001024644.2(XCR1):c.616G>T (p.Val206Leu)	XCR1 (V206L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545942	NM_001024644.2(XCR1):c.506A>C (p.Lys169Thr)	XCR1 (K169T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190967	NM_001024644.2(XCR1):c.501C>G (p.Phe167Leu)	XCR1 (F167L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317657	NM_001024644.2(XCR1):c.466G>A (p.Ala156Thr)	XCR1 (A156T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515409	NM_001024644.2(XCR1):c.454G>A (p.Ala152Thr)	XCR1 (A152T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190965	NM_001024644.2(XCR1):c.430C>T (p.Arg144Cys)	XCR1 (R144C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190964	NM_001024644.2(XCR1):c.349A>T (p.Ile117Phe)	XCR1 (I117F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190963	NM_001024644.2(XCR1):c.321G>T (p.Met107Ile)	XCR1 (M107I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271875	NM_001024644.2(XCR1):c.275A>G (p.His92Arg)	XCR1 (H92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190962	NM_001024644.2(XCR1):c.241G>A (p.Ala81Thr)	XCR1 (A81T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604635	NM_001024644.2(XCR1):c.241G>C (p.Ala81Pro)	XCR1 (A81P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190961	NM_001024644.2(XCR1):c.221G>A (p.Cys74Tyr)	XCR1 (C74Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616543	NM_001024644.2(XCR1):c.106G>C (p.Val36Leu)	XCR1 (V36L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605631	NM_001024644.2(XCR1):c.68A>T (p.Glu23Val)	XCR1 (E23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608077	NM_001024644.2(XCR1):c.62C>T (p.Pro21Leu)	XCR1 (P21L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3190966	NM_001024644.2(XCR1):c.44A>G (p.Tyr15Cys)	XCR1 (Y15C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603538	NM_001024644.2(XCR1):c.34T>G (p.Phe12Val)	XCR1 (F12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313823	NM_001024644.2(XCR1):c.29C>A (p.Thr10Asn)	XCR1 (T10N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487940	NM_001024644.2(XCR1):c.23A>G (p.Glu8Gly)	XCR1 (E8G)	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	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 832190	NC_000003.12:g.(?_45826314)_(46021947_?)dup	CCR9, CXCR6 +3 more	Duplication	not provided	GUncertain significance
Select item 686472	GRCh37/hg19 3p21.31(chr3:45862803-46173511)x3	CCR9, CXCR6 +3 more	Copy number gain	not provided	GUncertain significance
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
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: 40