ClinVar for Gene (Select 7852) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3079208	NM_003467.3(CXCR4):c.98A>T (p.Asn33Ile)	CXCR4 (N104I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3062609	GRCh37/hg19 2q21.3-22.1(chr2:136445987-137460731)x3	CXCR4, DARS1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3062608	GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3	ACMSD, ACVR2A +26 more	Copy number gain	not specified	GLikely pathogenic
Select item 3058994	NM_003467.3(CXCR4):c.16-636C>T	CXCR4	Single nucleotide variant (synonymous variant +1 more)	CXCR4-related disorder	GBenign
Select item 3054124	NM_003467.3(CXCR4):c.16-699G>A	CXCR4	Single nucleotide variant (synonymous variant +1 more)	CXCR4-related disorder	GLikely benign
Select item 3026663	NM_003467.3(CXCR4):c.957del (p.Ser319_Val320insTer)	CXCR4	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3021419	NM_003467.3(CXCR4):c.103A>G (p.Asn35Asp)	CXCR4 (N35D +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 3016216	NM_003467.3(CXCR4):c.188T>C (p.Met63Thr)	CXCR4 (M63T +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 3013082	NM_003467.3(CXCR4):c.109A>G (p.Asn37Asp)	CXCR4 (N108D +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
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 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 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 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 2881048	NM_003467.3(CXCR4):c.89G>A (p.Arg30His)	CXCR4 (R101H +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 2868961	NM_003467.3(CXCR4):c.116T>C (p.Ile39Thr)	CXCR4 (I110T +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 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 2844856	NM_003467.3(CXCR4):c.7G>T (p.Gly3Trp)	CXCR4 (G3W)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
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 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 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 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 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 2799117	NM_003467.3(CXCR4):c.228C>T (p.Tyr76=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 2765139	NM_003467.3(CXCR4):c.305G>A (p.Trp102Ter)	CXCR4 (W102* +4 more)	Single nucleotide variant (nonsense)	Warts, hypogammaglobulinemia, infections, and myelokathexis	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 2712085	NM_003467.3(CXCR4):c.363C>T (p.Tyr121=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 2711994	NM_003467.3(CXCR4):c.70A>G (p.Met24Val)	CXCR4 (M24V +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 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 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 2688504	NM_003467.3(CXCR4):c.16-755G>A	CXCR4 (V13I)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 2631163	NM_003467.3(CXCR4):c.422C>T (p.Ala141Val)	CXCR4 (A126V +4 more)	Single nucleotide variant (missense variant)	CXCR4-related disorder	GUncertain significance
Select item 2431876	NM_003467.3(CXCR4):c.175G>A (p.Val59Ile)	CXCR4 (V130I +4 more)	Single nucleotide variant (missense variant)	WHIM syndrome 1	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 2424679	NC_000002.11:g.(?_135809878)_(136875630_?)del	CXCR4, DARS1 +7 more	Deletion	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 2424395	NC_000002.11:g.(?_136545894)_(136875630_?)dup	CXCR4, DARS1 +2 more	Duplication	not provided	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 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 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 2203150	NM_003467.3(CXCR4):c.415G>A (p.Val139Ile)	CXCR4 (V124I +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 2196329	NM_003467.3(CXCR4):c.444G>A (p.Arg148=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 2156402	NM_003467.3(CXCR4):c.39C>T (p.Thr13=)	CXCR4	Single nucleotide variant (synonymous variant +1 more)	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 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 2144306	NM_003467.3(CXCR4):c.267C>T (p.Ile89=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 2123601	NM_003467.3(CXCR4):c.225del (p.Lys75fs)	CXCR4 (K108fs +4 more)	Deletion (frameshift variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
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 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 2111957	NM_003467.3(CXCR4):c.437G>A (p.Arg146Lys)	CXCR4 (R131K +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 2086731	NM_003467.3(CXCR4):c.184G>A (p.Val62Ile)	CXCR4 (V95I +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
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 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 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 2026618	NM_003467.3(CXCR4):c.438G>A (p.Arg146=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 2017625	NM_003467.3(CXCR4):c.307T>C (p.Tyr103His)	CXCR4 (Y103H +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 2008351	NM_003467.3(CXCR4):c.5A>G (p.Glu2Gly)	CXCR4 (E2G)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 1995877	NM_003467.3(CXCR4):c.342C>A (p.Val114=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 1995715	NM_003467.3(CXCR4):c.394C>G (p.Leu132Val)	CXCR4 (L117V +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 1981791	NM_003467.3(CXCR4):c.295G>A (p.Val99Met)	CXCR4 (V103M +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 1979789	NM_003467.3(CXCR4):c.453G>A (p.Leu151=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 1968201	NM_003467.3(CXCR4):c.165C>A (p.Gly55=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
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 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 1933529	NM_003467.3(CXCR4):c.278T>C (p.Phe93Ser)	CXCR4 (F93S +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
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 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 1723801	NM_003467.3(CXCR4):c.697C>T (p.Gln233Ter)	CXCR4 (Q218* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1717508	NM_003467.3(CXCR4):c.256C>T (p.Leu86Phe)	CXCR4 (L119F +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis +1 more	GUncertain significance
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 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 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 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1654395	NM_003467.3(CXCR4):c.15+7C>T	CXCR4	Single nucleotide variant (intron variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 1647932	NM_003467.3(CXCR4):c.420C>T (p.His140=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
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 1630349	NM_003467.3(CXCR4):c.15+18C>T	CXCR4	Single nucleotide variant (intron variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
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 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 1591378	NM_003467.3(CXCR4):c.270G>A (p.Thr90=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 1569544	NM_003467.3(CXCR4):c.402C>A (p.Arg134=)	CXCR4	Single nucleotide variant (synonymous variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 1563400	NM_003467.3(CXCR4):c.30T>C (p.Asp10=)	CXCR4	Single nucleotide variant (synonymous variant +1 more)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GLikely benign
Select item 1530890	NM_003467.3(CXCR4):c.39C>G (p.Thr13=)	CXCR4	Single nucleotide variant (synonymous variant +1 more)	Warts, hypogammaglobulinemia, infections, and myelokathexis +1 more	GLikely benign
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 1516467	NM_003467.3(CXCR4):c.235C>T (p.His79Tyr)	CXCR4 (H112Y +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 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 1501694	NM_003467.3(CXCR4):c.110A>G (p.Asn37Ser)	CXCR4 (N108S +4 more)	Single nucleotide variant (missense variant)	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 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 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 1462740	NM_003467.3(CXCR4):c.10A>G (p.Ile4Val)	CXCR4 (I4V)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
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 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 1450988	NM_003467.3(CXCR4):c.345C>G (p.Ile115Met)	CXCR4 (I148M +4 more)	Single nucleotide variant (missense variant)	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
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 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 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

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