ClinVar for Gene (Select 338657) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3142239	NM_198489.3(CENATAC):c.986C>T (p.Thr329Ile)	CENATAC (T329I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142238	NM_198489.3(CENATAC):c.961G>C (p.Ala321Pro)	CENATAC (A321P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142237	NM_198489.3(CENATAC):c.904C>T (p.Arg302Cys)	CENATAC (R302C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142236	NM_198489.3(CENATAC):c.840C>A (p.Asp280Glu)	CENATAC (D280E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142235	NM_198489.3(CENATAC):c.747A>T (p.Glu249Asp)	CENATAC (E249D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142234	NM_198489.3(CENATAC):c.674T>C (p.Ile225Thr)	CENATAC (I225T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142233	NM_198489.3(CENATAC):c.613T>G (p.Leu205Val)	CENATAC (L205V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142232	NM_198489.3(CENATAC):c.52C>A (p.Arg18Ser)	CENATAC, LOC121392945 (R18S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142231	NM_198489.3(CENATAC):c.485G>A (p.Arg162Gln)	CENATAC (R162Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142230	NM_198489.3(CENATAC):c.462G>C (p.Gln154His)	CENATAC (Q154H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142229	NM_198489.3(CENATAC):c.422A>G (p.Glu141Gly)	CENATAC (E141G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142228	NM_198489.3(CENATAC):c.309C>G (p.Asn103Lys)	CENATAC, LOC121392945 (N103K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142227	NM_198489.3(CENATAC):c.308A>G (p.Asn103Ser)	CENATAC, LOC121392945 (N103S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142226	NM_198489.3(CENATAC):c.25C>G (p.Leu9Val)	CENATAC, LOC121392945 (L9V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142225	NM_198489.3(CENATAC):c.215A>T (p.Glu72Val)	CENATAC, LOC121392945 (E72V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142224	NM_198489.3(CENATAC):c.172C>G (p.Pro58Ala)	CENATAC, LOC121392945 (P58A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142223	NM_198489.3(CENATAC):c.167A>G (p.Tyr56Cys)	CENATAC, LOC121392945 (Y56C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142222	NM_198489.3(CENATAC):c.151G>C (p.Ala51Pro)	CENATAC, LOC121392945 (A51P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142221	NM_198489.3(CENATAC):c.110T>C (p.Leu37Pro)	CENATAC, LOC121392945 (L37P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2627020	NM_198489.3(CENATAC):c.803A>T (p.Glu268Val)	CENATAC (E268V)	Single nucleotide variant (missense variant +1 more)	Mosaic variegated aneuploidy syndrome 4	GPathogenic
Select item 2627019	NM_198489.3(CENATAC):c.805+2_805+19del	CENATAC	Deletion (splice donor variant)	Mosaic variegated aneuploidy syndrome 4	GPathogenic
Select item 2621418	NM_198489.3(CENATAC):c.724C>T (p.Pro242Ser)	CENATAC (P242S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595676	NM_198489.3(CENATAC):c.37A>G (p.Thr13Ala)	CENATAC, LOC121392945 (T13A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588293	NM_198489.3(CENATAC):c.530A>G (p.Asp177Gly)	CENATAC (D177G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561175	NM_198489.3(CENATAC):c.811A>G (p.Lys271Glu)	CENATAC (K271E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474524	NM_198489.3(CENATAC):c.601C>G (p.Gln201Glu)	CENATAC (Q201E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470527	NM_198489.3(CENATAC):c.263G>A (p.Gly88Glu)	CENATAC, LOC121392945 (G88E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469672	NM_198489.3(CENATAC):c.532C>A (p.Pro178Thr)	CENATAC (P178T)	Single nucleotide variant (missense variant +1 more)	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 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	CENATAC, CEP164 +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 1340179	GRCh37/hg19 11q23.3(chr11:118849155-119067781)x3	ABCG4, C2CD2L +14 more	Copy number gain	not provided	GUncertain significance
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	CD3D, CD3E +31 more	Deletion	Combined immunodeficiency due to CD3gamma deficiency +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 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 545140	Single allele	LOC130007028, LOC130007029 +608 more	Duplication	Schizophrenia	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 148415	GRCh38/hg38 11q23.3(chr11:118933083-119215291)x3	ABCG4, C2CD2L +40 more	Copy number gain	See cases	GLikely benign
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 92038	NM_198489.3(CENATAC):c.815A>G (p.Gln272Arg)	CENATAC (Q272R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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: 64