ClinVar for Gene (Select 643) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270428	NM_001716.5(CXCR5):c.116C>A (p.Pro39His)	CXCR5 (P39H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270427	NM_001716.5(CXCR5):c.989G>A (p.Arg330His)	CXCR5 (R330H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270425	NM_001716.5(CXCR5):c.639T>A (p.His213Gln)	CXCR5 (H213Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244710	NC_000011.9:g.(?_118007742)_(119170491_?)del	ABCG4, ARCN1 +36 more	Deletion	not provided	GPathogenic
Select item 3244705	NC_000011.9:g.(?_118007742)_(119170491_?)dup	HINFP, MPZL2 +36 more	Duplication	Atrial fibrillation, familial, 14	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3079217	NM_001716.5(CXCR5):c.979G>A (p.Val327Met)	CXCR5 (V327M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079216	NM_001716.5(CXCR5):c.943T>A (p.Cys315Ser)	CXCR5 (C270S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079215	NM_001716.5(CXCR5):c.918G>A (p.Met306Ile)	CXCR5 (M261I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079213	NM_001716.5(CXCR5):c.581A>T (p.His194Leu)	CXCR5 (H194L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079212	NM_001716.5(CXCR5):c.355A>G (p.Thr119Ala)	CXCR5 (T74A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079211	NM_001716.5(CXCR5):c.283G>A (p.Val95Met)	CXCR5 (V95M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079210	NM_001716.5(CXCR5):c.1078C>T (p.Leu360Phe)	CXCR5 (L360F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079209	NM_001716.5(CXCR5):c.1067G>T (p.Arg356Leu)	CXCR5 (R311L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2604483	NM_001716.5(CXCR5):c.78C>G (p.Asn26Lys)	CXCR5 (N26K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551984	NM_001716.5(CXCR5):c.904G>A (p.Val302Met)	CXCR5 (V302M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546232	NM_001716.5(CXCR5):c.160G>A (p.Val54Met)	CXCR5 (V9M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2515498	NM_001716.5(CXCR5):c.1021G>T (p.Gly341Cys)	CXCR5 (G296C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493002	NM_001716.5(CXCR5):c.874A>G (p.Asn292Asp)	CXCR5 (N292D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472287	NM_001716.5(CXCR5):c.832G>A (p.Val278Ile)	CXCR5 (V278I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422557	NC_000011.9:g.(?_117209303)_(120133495_?)dup	ABCG4, ARCN1 +54 more	Duplication	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Inflammatory bowel disease 28 +5 more	GUncertain significance
Select item 2378280	NM_001716.5(CXCR5):c.322G>A (p.Val108Met)	CXCR5 (V63M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370535	NM_001716.5(CXCR5):c.160G>T (p.Val54Leu)	CXCR5 (V54L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346940	NM_001716.5(CXCR5):c.28G>A (p.Asp10Asn)	CXCR5 (D10N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335517	NM_001716.5(CXCR5):c.460G>A (p.Ala154Thr)	CXCR5 (A109T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330784	NM_001716.5(CXCR5):c.378T>G (p.Ile126Met)	CXCR5 (I126M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326454	NM_001716.5(CXCR5):c.868G>A (p.Val290Met)	CXCR5 (V290M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300139	NM_001716.5(CXCR5):c.1004G>A (p.Arg335Gln)	CXCR5 (R335Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299919	NM_001716.5(CXCR5):c.196G>A (p.Val66Met)	CXCR5 (V66M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	CEP164, TMPRSS4 +73 more	Duplication	not provided	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1259198	NC_000011.10:g.118883644C>A	CXCR5	Single nucleotide variant	not provided	GBenign
Select item 1007237	NC_000011.9:g.(?_117856768)_(118972385_?)dup	ARCN1, ATP5MG +31 more	Duplication	Immunodeficiency 18 +4 more	GUncertain significance
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 831101	NC_000011.9:g.(?_117856768)_(118972385_?)del	CD3E, CD3G +31 more	Deletion	Inflammatory bowel disease 28 +3 more	GPathogenic
Select item 815474	GRCh37/hg19 11q23.3(chr11:118280670-119650105)x3	VPS11, ABCG4 +33 more	Copy number gain	not provided	GUncertain significance
Select item 812956	Single allele	ABCG4, ACRV1 +169 more	Deletion	Neurodevelopmental delay +7 more	GLikely pathogenic
Select item 789043	NM_001716.5(CXCR5):c.52-7C>G	CXCR5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 784217	NM_001716.5(CXCR5):c.828C>T (p.His276=)	CXCR5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 745773	NM_001716.5(CXCR5):c.912C>T (p.Ile304=)	CXCR5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	ABCG4, ACAD8 +160 more	Copy number gain	not provided	GPathogenic
Select item 659604	NC_000011.9:g.(?_118007722)_(119170511_?)del	IFT46, JAML +36 more	Deletion	Long QT syndrome 10	GUncertain significance
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	ABCG4, ACAD8 +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563876	GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3	APOC3, TBCEL +70 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	MSANTD2, NCAPD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	FXYD2, POU2F3 +72 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	ABCG4, ACRV1 +499 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	LOC130007012, LOC130007013 +769 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	FRA11B, FXYD2 +763 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC126861364, LOC126861365 +764 more	Copy number gain	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	ABCG4, APOA1 +355 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 63