CXCR2[gene] - ClinVar - NCBI

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	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	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 1181067	NM_001557.4(CXCR2):c.-25-245G>A	CXCR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1540781	NM_001557.4(CXCR2):c.17T>G (p.Met6Arg)	CXCR2 (M6R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1900496	NM_001557.4(CXCR2):c.18G>A (p.Met6Ile)	CXCR2 (M6I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004731	NM_001557.4(CXCR2):c.27C>T (p.Asp9=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2050538	NM_001557.4(CXCR2):c.32T>C (p.Phe11Ser)	CXCR2 (F11S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931451	NM_001557.4(CXCR2):c.37G>C (p.Asp13His)	CXCR2 (D13H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059374	NM_001557.4(CXCR2):c.43T>C (p.Trp15Arg)	CXCR2 (W15R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347491	NM_001557.4(CXCR2):c.61A>C (p.Ser21Arg)	CXCR2 (S21R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2000471	NM_001557.4(CXCR2):c.67T>G (p.Tyr23Asp)	CXCR2 (Y23D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974950	NM_001557.4(CXCR2):c.75C>T (p.Tyr25=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882006	NM_001557.4(CXCR2):c.78C>T (p.Ser26=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1615238	NM_001557.4(CXCR2):c.84C>T (p.Thr28=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749604	NM_001557.4(CXCR2):c.87G>T (p.Leu29=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1529999	NM_001557.4(CXCR2):c.90C>G (p.Pro30=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733986	NM_001557.4(CXCR2):c.90C>T (p.Pro30=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1418499	NM_001557.4(CXCR2):c.92C>A (p.Pro31His)	CXCR2 (P31H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992670	NM_001557.4(CXCR2):c.94T>G (p.Phe32Val)	CXCR2 (F32V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1590154	NM_001557.4(CXCR2):c.108C>T (p.Ala36=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1400299	NM_001557.4(CXCR2):c.109G>A (p.Ala37Thr)	CXCR2 (A37T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510505	NM_001557.4(CXCR2):c.112C>T (p.Pro38Ser)	CXCR2 (P38S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868957	NM_001557.4(CXCR2):c.114A>G (p.Pro38=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1062024	NM_001557.4(CXCR2):c.119A>G (p.Glu40Gly)	CXCR2 (E40G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972803	NM_001557.4(CXCR2):c.140A>G (p.Asn47Ser)	CXCR2 (N47S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1644260	NM_001557.4(CXCR2):c.141C>T (p.Asn47=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1447599	NM_001557.4(CXCR2):c.146A>G (p.Tyr49Cys)	CXCR2 (Y49C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2393318	NM_001557.4(CXCR2):c.148T>C (p.Phe50Leu)	CXCR2 (F50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1974177	NM_001557.4(CXCR2):c.153G>C (p.Val51=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1662731	NM_001557.4(CXCR2):c.159T>C (p.Ile53=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1389587	NM_001557.4(CXCR2):c.164A>T (p.Tyr55Phe)	CXCR2 (Y55F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944401	NM_001557.4(CXCR2):c.172G>A (p.Val58Ile)	CXCR2 (V58I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1461349	NM_001557.4(CXCR2):c.180G>C (p.Leu60=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1165956	NM_001557.4(CXCR2):c.181C>T (p.Leu61=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1967499	NM_001557.4(CXCR2):c.185G>A (p.Ser62Asn)	CXCR2 (S62N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999022	NM_001557.4(CXCR2):c.189G>C (p.Leu63=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1928149	NM_001557.4(CXCR2):c.189G>T (p.Leu63=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989732	NM_001557.4(CXCR2):c.190C>A (p.Leu64Met)	CXCR2 (L64M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180050	NM_001557.4(CXCR2):c.204C>G (p.Leu68=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1593328	NM_001557.4(CXCR2):c.204C>T (p.Leu68=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860982	NM_001557.4(CXCR2):c.221T>C (p.Leu74Ser)	CXCR2 (L74S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1961608	NM_001557.4(CXCR2):c.223T>C (p.Tyr75His)	CXCR2 (Y75H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2474530	NM_001557.4(CXCR2):c.228C>G (p.Ser76Arg)	CXCR2 (S76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2821307	NM_001557.4(CXCR2):c.232G>A (p.Val78Ile)	CXCR2 (V78I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1570278	NM_001557.4(CXCR2):c.234C>T (p.Val78=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 252588	NM_001557.4(CXCR2):c.235G>A (p.Gly79Ser)	CXCR2 (G79S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1164577	NM_001557.4(CXCR2):c.238C>T (p.Arg80Cys)	CXCR2 (R80C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2962869	NM_001557.4(CXCR2):c.243C>T (p.Ser81=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806952	NM_001557.4(CXCR2):c.243C>A (p.Ser81=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1415798	NM_001557.4(CXCR2):c.244G>A (p.Val82Ile)	CXCR2 (V82I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1571294	NM_001557.4(CXCR2):c.261G>A (p.Leu87=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1456515	NM_001557.4(CXCR2):c.270A>G (p.Leu90=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1950651	NM_001557.4(CXCR2):c.271G>A (p.Ala91Thr)	CXCR2 (A91T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997916	NM_001557.4(CXCR2):c.272C>T (p.Ala91Val)	CXCR2 (A91V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1139134	NM_001557.4(CXCR2):c.274T>C (p.Leu92=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2340073	NM_001557.4(CXCR2):c.281A>G (p.Asp94Gly)	CXCR2 (D94G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2771644	NM_001557.4(CXCR2):c.294C>T (p.Ala98=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788962	NM_001557.4(CXCR2):c.300C>T (p.Thr100=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1636861	NM_001557.4(CXCR2):c.303G>A (p.Leu101=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806228	NM_001557.4(CXCR2):c.306del (p.Ile103fs)	CXCR2 (I103fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2176652	NM_001557.4(CXCR2):c.315C>T (p.Ala105=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187989	NM_001557.4(CXCR2):c.316G>A (p.Ala106Thr)	CXCR2 (A106T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074050	NM_001557.4(CXCR2):c.334T>C (p.Trp112Arg)	CXCR2 (W112R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004621	NM_001557.4(CXCR2):c.336G>T (p.Trp112Cys)	CXCR2 (W112C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1600360	NM_001557.4(CXCR2):c.348A>G (p.Thr116=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2529963	NM_001557.4(CXCR2):c.386A>G (p.Asn129Ser)	CXCR2 (N129S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1930134	NM_001557.4(CXCR2):c.387C>T (p.Asn129=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961192	NM_001557.4(CXCR2):c.394A>C (p.Ser132Arg)	CXCR2 (S132R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961853	NM_001557.4(CXCR2):c.408_409inv (p.Leu136_Leu137=)	CXCR2	Inversion (synonymous variant)	not provided	GUncertain significance
Select item 2318622	NM_001557.4(CXCR2):c.416G>A (p.Cys139Tyr)	CXCR2 (C139Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1979261	NM_001557.4(CXCR2):c.430C>T (p.Arg144Cys)	CXCR2 (R144C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413826	NM_001557.4(CXCR2):c.431G>A (p.Arg144His)	CXCR2 (R144H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128217	NM_001557.4(CXCR2):c.453C>T (p.Ala151=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1377487	NM_001557.4(CXCR2):c.457C>T (p.Arg153Cys)	CXCR2 (R153C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3079201	NM_001557.4(CXCR2):c.458G>C (p.Arg153Pro)	CXCR2 (R153P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 809151	NM_001557.4(CXCR2):c.458G>A (p.Arg153His)	CXCR2 (R153H)	Single nucleotide variant (missense variant)	CXCR2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1484518	NM_001557.4(CXCR2):c.461C>T (p.Thr154Ile)	CXCR2 (T154I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1547787	NM_001557.4(CXCR2):c.471G>A (p.Gln157=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 809152	NM_001557.4(CXCR2):c.472A>T (p.Lys158Ter)	CXCR2 (K158*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2200001	NM_001557.4(CXCR2):c.475C>T (p.Arg159Cys)	CXCR2 (R159C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1498442	NM_001557.4(CXCR2):c.476G>A (p.Arg159His)	CXCR2 (R159H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809153	NM_001557.4(CXCR2):c.476G>T (p.Arg159Leu)	CXCR2 (R159L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2051276	NM_001557.4(CXCR2):c.482T>G (p.Leu161Trp)	CXCR2 (L161W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809154	NM_001557.4(CXCR2):c.488A>T (p.Lys163Ile)	CXCR2 (K163I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1651153	NM_001557.4(CXCR2):c.501C>T (p.Leu167=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2114565	NM_001557.4(CXCR2):c.504C>T (p.Ser168=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867145	NM_001557.4(CXCR2):c.512G>A (p.Gly171Asp)	CXCR2 (G171D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2321722	NM_001557.4(CXCR2):c.524T>A (p.Leu175His)	CXCR2 (L175H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1662430	NM_001557.4(CXCR2):c.526C>T (p.Leu176=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905658	NM_001557.4(CXCR2):c.528G>T (p.Leu176=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1352823	NM_001557.4(CXCR2):c.529G>A (p.Ala177Thr)	CXCR2 (A177T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1638518	NM_001557.4(CXCR2):c.531C>T (p.Ala177=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807003	NM_001557.4(CXCR2):c.534G>C (p.Leu178=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989693	NM_001557.4(CXCR2):c.549C>T (p.Phe183=)	CXCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1372109	NM_001557.4(CXCR2):c.550C>T (p.Arg184Ter)	CXCR2 (R184*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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