CXCR4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 650197	NC_000002.12:g.(?_135950413)_(136118080_?)del	CXCR4, DARS1 +9 more	Deletion	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 146815	GRCh38/hg38 2q21.3-22.2(chr2:136045480-142845159)x3	CXCR4, HNMT +46 more	Copy number gain	See cases	GPathogenic
Select item 946873	NM_003467.3(CXCR4):c.1054A>G (p.Ser352Gly)	CXCR4 (S356G +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 1362599	NM_003467.3(CXCR4):c.1042A>G (p.Ser348Gly)	CXCR4 (S352G +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 1513755	NM_003467.3(CXCR4):c.893_1034dup (p.Glu345_Ser346insProHisProLeuCysPheProTrpSerGlnIleTer)	CXCR4	Duplication (nonsense +1 more)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GPathogenic
Select item 1592380	NM_003467.3(CXCR4):c.1032T>C (p.Ser344=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 1319371	NM_003467.3(CXCR4):c.1025_1028del (p.Thr342fs)	CXCR4 (T327fs +4 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 14022	NM_003467.3(CXCR4):c.1027G>T (p.Glu343Ter)	CXCR4 (E343* +4 more)	Single nucleotide variant (nonsense)	WHIM syndrome 1	GPathogenic
Select item 1614914	NM_003467.3(CXCR4):c.1026T>C (p.Thr342=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 1494228	NM_003467.3(CXCR4):c.1025_1026del (p.Thr342fs)	CXCR4 (T342fs +4 more)	Deletion (frameshift variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GPathogenic
Select item 855700	NM_003467.3(CXCR4):c.1022C>A (p.Ser341Tyr)	CXCR4 (S326Y +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 14021	NM_003467.3(CXCR4):c.1016_1017del (p.Ser339fs)	CXCR4 (S339fs +4 more)	Deletion (frameshift variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely pathogenic
Select item 1338437	NM_003467.3(CXCR4):c.1012_1015dup (p.Ser339fs)	CXCR4 (S324fs +4 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1393639	NM_003467.3(CXCR4):c.1014del (p.Ser339fs)	CXCR4 (S339fs +4 more)	Deletion (frameshift variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GPathogenic
Select item 1685294	NM_003467.3(CXCR4):c.1013C>A (p.Ser338Ter)	CXCR4 (S323* +4 more)	Single nucleotide variant (nonsense)	WHIM syndrome 1	GLikely pathogenic
Select item 14023	NM_003467.3(CXCR4):c.1013C>G (p.Ser338Ter)	CXCR4 (S338* +4 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2833680	NM_003467.3(CXCR4):c.1011T>G (p.His337Gln)	CXCR4 (H322Q +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 2148587	NM_003467.3(CXCR4):c.1008A>G (p.Gly336=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 1453229	NM_003467.3(CXCR4):c.1006G>T (p.Gly336Ter)	CXCR4 (G369* +4 more)	Single nucleotide variant (nonsense)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GPathogenic
Select item 372600	NM_003467.3(CXCR4):c.1003G>A (p.Gly335Ser)	CXCR4 (G335S +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2078316	NM_003467.3(CXCR4):c.1001G>C (p.Arg334Pro)	CXCR4 (R338P +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 1396800	NM_003467.3(CXCR4):c.1000C>G (p.Arg334Gly)	CXCR4 (R319G +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 14020	NM_003467.3(CXCR4):c.1000C>T (p.Arg334Ter)	CXCR4 (R334* +4 more)	Single nucleotide variant (nonsense)	WHIM syndrome 1 +2 more	GPathogenic
Select item 574352	NM_003467.3(CXCR4):c.994G>T (p.Gly332Ter)	CXCR4 (G332* +4 more)	Single nucleotide variant (nonsense)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GPathogenic
Select item 1163801	NM_003467.3(CXCR4):c.988_989del (p.Ser330fs)	CXCR4 (S315fs +4 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2984590	NM_003467.3(CXCR4):c.984C>A (p.Ile328=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 1337111	NM_003467.3(CXCR4):c.984C>T (p.Ile328=)	CXCR4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 958354	NM_003467.3(CXCR4):c.973A>G (p.Ser325Gly)	CXCR4 (S310G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1036381	NM_003467.3(CXCR4):c.969dup (p.Ser324fs)	CXCR4 (S309fs +4 more)	Duplication (frameshift variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GPathogenic
Select item 1954855	NM_003467.3(CXCR4):c.967G>A (p.Gly323Arg)	CXCR4 (G323R +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 1900253	NM_003467.3(CXCR4):c.964A>G (p.Arg322Gly)	CXCR4 (R322G +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 1390084	NM_003467.3(CXCR4):c.963dup (p.Arg322fs)	CXCR4 (R326fs +4 more)	Duplication (frameshift variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GPathogenic
Select item 1067193	NM_003467.3(CXCR4):c.959_960del (p.Val320fs)	CXCR4 (V305fs +4 more)	Microsatellite (frameshift variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GPathogenic
Select item 2269638	NM_003467.3(CXCR4):c.958G>C (p.Val320Leu)	CXCR4 (V353L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3026663	NM_003467.3(CXCR4):c.957del (p.Ser319_Val320insTer)	CXCR4	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1908329	NM_003467.3(CXCR4):c.957T>G (p.Ser319=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 835055	NM_003467.3(CXCR4):c.956_957del (p.Ser319fs)	CXCR4 (S304fs +4 more)	Microsatellite (frameshift variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GPathogenic
Select item 988527	NM_003467.3(CXCR4):c.952dup (p.Thr318fs)	CXCR4 (T303fs +4 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 827702	NM_003467.3(CXCR4):c.950_953del (p.Leu317fs)	CXCR4 (L317fs +4 more)	Deletion (frameshift variant)	WHIM syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1518647	NM_003467.3(CXCR4):c.946G>A (p.Ala316Thr)	CXCR4 (A349T +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GBenign
Select item 1164267	NM_003467.3(CXCR4):c.945C>T (p.His315=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GBenign
Select item 1952264	NM_003467.3(CXCR4):c.933C>G (p.Thr311=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 855157	NM_003467.3(CXCR4):c.928A>G (p.Lys310Glu)	CXCR4 (K310E +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 2029669	NM_003467.3(CXCR4):c.912C>T (p.Phe304=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 2250133	NM_003467.3(CXCR4):c.901C>T (p.Leu301Phe)	CXCR4 (L372F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2837444	NM_003467.3(CXCR4):c.884G>A (p.Cys295Tyr)	CXCR4 (C280Y +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 1058395	NM_003467.3(CXCR4):c.871G>A (p.Ala291Thr)	CXCR4 (A276T +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 761822	NM_003467.3(CXCR4):c.870A>G (p.Leu290=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 2119378	NM_003467.3(CXCR4):c.865G>A (p.Ala289Thr)	CXCR4 (A293T +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 2807563	NM_003467.3(CXCR4):c.862G>A (p.Glu288Lys)	CXCR4 (E359K +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 748112	NM_003467.3(CXCR4):c.861C>T (p.Thr287=)	CXCR4	Single nucleotide variant (synonymous variant)	CXCR4-related disorder +1 more	GLikely benign
Select item 2705396	NM_003467.3(CXCR4):c.843C>T (p.His281=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 1424536	NM_003467.3(CXCR4):c.831G>C (p.Glu277Asp)	CXCR4 (E262D +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 1337903	NM_003467.3(CXCR4):c.826T>A (p.Phe276Ile)	CXCR4 (F261I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1412077	NM_003467.3(CXCR4):c.814C>T (p.Gln272Ter)	CXCR4 (Q343* +4 more)	Single nucleotide variant (nonsense)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 1498500	NM_003467.3(CXCR4):c.804A>T (p.Glu268Asp)	CXCR4 (E339D +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 2706192	NM_003467.3(CXCR4):c.798C>T (p.Leu266=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 2694290	NM_003467.3(CXCR4):c.795C>T (p.Ile265=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 636688	NM_003467.3(CXCR4):c.786C>A (p.Asp262Glu)	CXCR4 (D262E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 434875	NM_003467.3(CXCR4):c.783C>T (p.Ile261=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis +3 more	GBenign/Likely benign
Select item 1700835	NM_003467.3(CXCR4):c.752G>C (p.Cys251Ser)	CXCR4 (C236S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1424509	NM_003467.3(CXCR4):c.752G>T (p.Cys251Phe)	CXCR4 (C284F +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 1398598	NM_003467.3(CXCR4):c.748G>A (p.Ala250Thr)	CXCR4 (A250T +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 1451884	NM_003467.3(CXCR4):c.747C>T (p.Phe249=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 1336899	NM_003467.3(CXCR4):c.747C>A (p.Phe249Leu)	CXCR4 (F234L +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis +1 more	GUncertain significance
Select item 2431001	NM_003467.3(CXCR4):c.728del (p.Ile243fs)	CXCR4 (I228fs +4 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 644782	NM_003467.3(CXCR4):c.727A>C (p.Ile243Leu)	CXCR4 (I276L +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis +2 more	GUncertain significance
Select item 724626	NM_003467.3(CXCR4):c.708G>A (p.Lys236=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis +1 more	GLikely benign
Select item 663673	NM_003467.3(CXCR4):c.704G>A (p.Arg235His)	CXCR4 (R306H +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 1723801	NM_003467.3(CXCR4):c.697C>T (p.Gln233Ter)	CXCR4 (Q218* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2717954	NM_003467.3(CXCR4):c.695A>G (p.His232Arg)	CXCR4 (H232R +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 1113784	NM_003467.3(CXCR4):c.676C>T (p.Leu226=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 1034808	NM_003467.3(CXCR4):c.661A>C (p.Ile221Leu)	CXCR4 (I254L +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 1644341	NM_003467.3(CXCR4):c.660C>T (p.Cys220=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 2908012	NM_003467.3(CXCR4):c.653G>C (p.Cys218Ser)	CXCR4 (C222S +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 1011023	NM_003467.3(CXCR4):c.650C>A (p.Ser217Tyr)	CXCR4 (S221Y +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 2855614	NM_003467.3(CXCR4):c.624T>C (p.Leu208=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 2809930	NM_003467.3(CXCR4):c.591del (p.Val198fs)	CXCR4 (V183fs +4 more)	Deletion (frameshift variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 1024744	NM_003467.3(CXCR4):c.586G>A (p.Val196Met)	CXCR4 (V181M +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 2415989	NM_003467.3(CXCR4):c.584G>A (p.Trp195Ter)	CXCR4 (W180* +4 more)	Single nucleotide variant (nonsense)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 624148	NM_003467.3(CXCR4):c.582G>C (p.Leu194Phe)	CXCR4 (L194F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2049491	NM_003467.3(CXCR4):c.575A>G (p.Asn192Ser)	CXCR4 (N177S +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 1473690	NM_003467.3(CXCR4):c.560A>G (p.Asp187Gly)	CXCR4 (D187G +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 2199892	NM_003467.3(CXCR4):c.552T>C (p.Tyr184=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 3079207	NM_003467.3(CXCR4):c.551A>G (p.Tyr184Cys)	CXCR4 (Y255C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2881429	NM_003467.3(CXCR4):c.549A>G (p.Arg183=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 2976689	NM_003467.3(CXCR4):c.529G>A (p.Val177Ile)	CXCR4 (V162I +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GBenign
Select item 759688	NM_003467.3(CXCR4):c.528C>T (p.Asn176=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 2828020	NM_003467.3(CXCR4):c.518T>C (p.Ile173Thr)	CXCR4 (I173T +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 1508196	NM_003467.3(CXCR4):c.516C>A (p.Phe172Leu)	CXCR4 (F176L +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 799822	NM_003467.3(CXCR4):c.511G>A (p.Asp171Asn)	CXCR4 (D171N +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GBenign
Select item 665616	NM_003467.3(CXCR4):c.506T>C (p.Ile169Thr)	CXCR4 (I154T +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2118615	NM_003467.3(CXCR4):c.504T>A (p.Thr168=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 2154007	NM_003467.3(CXCR4):c.501G>A (p.Leu167=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 660916	NM_003467.3(CXCR4):c.478G>A (p.Val160Ile)	CXCR4 (V145I +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 1091391	NM_003467.3(CXCR4):c.477C>T (p.Gly159=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 1337052	NM_003467.3(CXCR4):c.475G>A (p.Gly159Ser)	CXCR4 (G144S +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2845422	NM_003467.3(CXCR4):c.473T>C (p.Val158Ala)	CXCR4 (V143A +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 530952	NM_003467.3(CXCR4):c.458A>C (p.Glu153Ala)	CXCR4 (E153A +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance

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