CXCR1[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 779083	NM_000634.3(CXCR1):c.1025C>T (p.Ser342Leu)	CXCR1 (S342L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2288937	NM_000634.3(CXCR1):c.1001A>G (p.His334Arg)	CXCR1 (H334R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598658	NM_000634.3(CXCR1):c.997C>T (p.Arg333Cys)	CXCR1 (R333C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039805	NM_000634.3(CXCR1):c.938G>A (p.Arg313His)	CXCR1 (R313H)	Single nucleotide variant (missense variant)	CXCR1-related disorder	GLikely benign
Select item 3042962	NM_000634.3(CXCR1):c.915C>T (p.Tyr305=)	CXCR1	Single nucleotide variant (synonymous variant)	CXCR1-related disorder	GLikely benign
Select item 2278617	NM_000634.3(CXCR1):c.875T>C (p.Ile292Thr)	CXCR1 (I292T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079200	NM_000634.3(CXCR1):c.863A>T (p.Asp288Val)	CXCR1 (D288V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319894	NM_000634.3(CXCR1):c.856G>A (p.Ala286Thr)	CXCR1 (A286T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500018	NM_000634.3(CXCR1):c.838C>T (p.Arg280Cys)	CXCR1 (R280C)	Single nucleotide variant (missense variant)	Susceptibility to HIV infection	GUncertain significance
Select item 731429	NM_000634.3(CXCR1):c.835C>T (p.Arg279Cys)	CXCR1 (R279C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2571396	NM_000634.3(CXCR1):c.827G>C (p.Ser276Thr)	CXCR1 (S276T)	Single nucleotide variant (missense variant)	CXCR1-related disorder	GBenign
Select item 3079199	NM_000634.3(CXCR1):c.781G>A (p.Val261Ile)	CXCR1 (V261I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270774	NM_000634.3(CXCR1):c.727G>T (p.Val243Phe)	CXCR1 (V243F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039154	NM_000634.3(CXCR1):c.717A>G (p.Arg239=)	CXCR1	Single nucleotide variant (synonymous variant)	CXCR1-related disorder	GLikely benign
Select item 1049412	NM_000634.3(CXCR1):c.679C>A (p.Arg227Ser)	CXCR1 (R227S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2457669	NM_000634.3(CXCR1):c.667G>A (p.Gly223Arg)	CXCR1 (G223R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708307	NM_000634.3(CXCR1):c.633C>A (p.Phe211Leu)	CXCR1 (F211L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 625927	NM_000634.3(CXCR1):c.608G>A (p.Arg203Gln)	CXCR1 (R203Q)	Single nucleotide variant (missense variant)	Susceptibility to HIV infection	GUncertain significance
Select item 2385318	NM_000634.3(CXCR1):c.607C>T (p.Arg203Trp)	CXCR1 (R203W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079198	NM_000634.3(CXCR1):c.602T>C (p.Val201Ala)	CXCR1 (V201A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558590	NM_000634.3(CXCR1):c.595C>T (p.Arg199Trp)	CXCR1 (R199W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233037	NM_000634.3(CXCR1):c.587C>T (p.Ala196Val)	CXCR1 (A196V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079197	NM_000634.3(CXCR1):c.509C>G (p.Pro170Arg)	CXCR1 (P170R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079196	NM_000634.3(CXCR1):c.491C>G (p.Ser164Cys)	CXCR1 (S164C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034852	NM_000634.3(CXCR1):c.462G>A (p.Lys154=)	CXCR1	Single nucleotide variant (synonymous variant)	CXCR1-related disorder	GLikely benign
Select item 3024980	NM_000634.3(CXCR1):c.447G>A (p.Lys149=)	CXCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619232	NM_000634.3(CXCR1):c.412G>A (p.Ala138Thr)	CXCR1 (A138T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271344	NM_000634.3(CXCR1):c.402C>G (p.Asp134Glu)	CXCR1 (D134E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079195	NM_000634.3(CXCR1):c.395G>A (p.Ser132Asn)	CXCR1 (S132N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346063	NM_000634.3(CXCR1):c.332A>G (p.Lys111Arg)	CXCR1 (K111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079194	NM_000634.3(CXCR1):c.289G>T (p.Ala97Ser)	CXCR1 (A97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791123	NM_000634.3(CXCR1):c.288C>T (p.Ala96=)	CXCR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2388070	NM_000634.3(CXCR1):c.284G>C (p.Trp95Ser)	CXCR1 (W95S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079193	NM_000634.3(CXCR1):c.212G>A (p.Arg71His)	CXCR1 (R71H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079192	NM_000634.3(CXCR1):c.183G>T (p.Met61Ile)	CXCR1 (M61I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287782	NM_000634.3(CXCR1):c.158G>A (p.Ser53Asn)	CXCR1 (S53N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079191	NM_000634.3(CXCR1):c.113A>T (p.Asn38Ile)	CXCR1 (N38I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392760	NM_000634.3(CXCR1):c.101C>T (p.Thr34Ile)	CXCR1 (T34I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 872913	NM_000634.3(CXCR1):c.92T>G (p.Met31Arg)	CXCR1 (M31R)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 14816	HAPLOTYPE Ha	CXCR1 (M31R +1 more)	Single nucleotide variant (missense variant)	Acquired immunodeficiency syndrome, slow progression to	GPathogenic
Select item 2359810	NM_000634.3(CXCR1):c.67G>A (p.Ala23Thr)	CXCR1 (A23T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2273315	NM_000634.3(CXCR1):c.64C>T (p.Pro22Ser)	CXCR1 (P22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326306	NM_000634.3(CXCR1):c.61C>T (p.Pro21Ser)	CXCR1 (P21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250451	NM_000634.3(CXCR1):c.56G>T (p.Gly19Val)	CXCR1 (G19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 992524	NM_000634.3(CXCR1):c.3G>A (p.Met1Ile)	CXCR1 (M1I)	Single nucleotide variant (missense variant +1 more)	Susceptibility to HIV infection	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526952	GRCh37/hg19 2q35(chr2:218210665-220141650)	AAMP, ABCB6 +42 more	Copy number gain	not specified	GUncertain significance
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1434778	NC_000002.11:g.(?_218999525)_(220435954_?)dup	ZFAND2B, ZNF142 +50 more	Duplication	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 625776	GRCh37/hg19 2q35(chr2:218271898-219825640)	AAMP, ARPC2 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 562677	GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	AAMP, ABCA12 +60 more	Copy number gain	not provided	GPathogenic
Select item 562674	GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1	AAMP, ABCB6 +71 more	Copy number loss	not provided	GPathogenic
Select item 493568	GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1	IRS1, KCNE4 +77 more	Copy number loss	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 226231	GRCh37/hg19 2q35(chr2:218647714-219053933)	TNS1, CXCR1 +2 more	Copy number gain	Abnormal esophagus morphology	GUncertain significance
Select item 872983	NM_000634.3(CXCR1):c.1003C>T (p.Arg335Cys)	CXCR1 (R335C)	Single nucleotide variant	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant

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Items: 73