BCL2L11[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152239	GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3	ACOXL, ACOXL-AS1 +154 more	Copy number gain	See cases	GUncertain significance
Select item 152806	GRCh38/hg38 2q13-14.1(chr2:110577566-112331529)x3	ACOXL, ACOXL-AS1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 144476	GRCh38/hg38 2q13-14.1(chr2:110611255-112308202)x1	ACOXL, ACOXL-AS1 +51 more	Copy number loss	See cases	GUncertain significance
Select item 154032	GRCh38/hg38 2q13-14.1(chr2:110631042-112354279)x1	ACOXL, ACOXL-AS1 +50 more	Copy number loss	See cases	GUncertain significance
Select item 59323	GRCh38/hg38 2q13-14.1(chr2:110634620-112345017)x3	ACOXL, ACOXL-AS1 +50 more	Copy number gain	See cases	GUncertain significance
Select item 57565	GRCh38/hg38 2q13-14.1(chr2:110638242-112244051)x1	ACOXL, ACOXL-AS1 +45 more	Copy number loss	See cases	GUncertain significance
Select item 57564	GRCh38/hg38 2q13-14.1(chr2:110638242-112317901)x1	ACOXL, ACOXL-AS1 +50 more	Copy number loss	See cases	GUncertain significance
Select item 223093	NC_000002.12:g.(?_110649261)_(112345017_?)del	ACOXL, ACOXL-AS1 +50 more	Deletion	not provided	GLikely pathogenic
Select item 148494	GRCh38/hg38 2q13-14.1(chr2:110649261-112331529)x1	ACOXL, ACOXL-AS1 +50 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 148389	GRCh38/hg38 2q13-14.1(chr2:110649261-112379067)x3	ACOXL, ACOXL-AS1 +51 more	Copy number gain	See cases	GLikely benign
Select item 59324	GRCh38/hg38 2q13-14.1(chr2:110684353-112308343)x3	ACOXL, ACOXL-AS1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 161046	GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x3	ACOXL, ACOXL-AS1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 160844	GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x1	ACOXL, ACOXL-AS1 +47 more	Copy number loss	See cases	GUncertain significance
Select item 151397	GRCh38/hg38 2q13-14.1(chr2:110684553-112344958)x1	ACOXL, ACOXL-AS1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 32080	GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x1	ACOXL, ACOXL-AS1 +47 more	Copy number loss	See cases	GUncertain significance
Select item 154416	GRCh38/hg38 2q13-14.1(chr2:110684598-112308164)x3	ACOXL, ACOXL-AS1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 775750	NM_138621.5(BCL2L11):c.39C>T (p.Asp13=)	BCL2L11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2340460	NM_138621.5(BCL2L11):c.40C>G (p.Arg14Gly)	BCL2L11 (R14G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246472	NM_138621.5(BCL2L11):c.85A>G (p.Arg29Gly)	BCL2L11 (R29G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337443	NM_138621.5(BCL2L11):c.127A>G (p.Asn43Asp)	BCL2L11 (N43D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406517	NM_138621.5(BCL2L11):c.140A>G (p.Asn47Ser)	BCL2L11 (N47S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360637	NM_138621.5(BCL2L11):c.148G>C (p.Gly50Arg)	BCL2L11 (G50R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356768	NM_138621.5(BCL2L11):c.209C>G (p.Pro70Arg)	BCL2L11 (P70R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528805	NM_138621.5(BCL2L11):c.421G>A (p.Asp141Asn)	BCL2L11 (D81N +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1242068	NM_138621.5(BCL2L11):c.499-2716A>G	BCL2L11	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GBenign
Select item 2596574	NM_138621.5(BCL2L11):c.501A>G (p.Val167=)	BCL2L11 (I43V +2 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2266165	NM_138621.5(BCL2L11):c.563G>A (p.Arg188His)	BCL2L11 (R128H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062558	GRCh37/hg19 2q12.2-13(chr2:107032426-113111856)x1	ACOXL, ANAPC1 +27 more	Copy number loss	not specified	GPathogenic
Select item 2684642	GRCh37/hg19 2q12.2-13(chr2:107029681-113127751)x1	ACOXL, ANAPC1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2652124	GRCh37/hg19 2q13(chr2:110873265-113090065)x1	ACOXL, ANAPC1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 2580318	GRCh37/hg19 2q13(chr2:111335152-113127204)x1	ACOXL, ANAPC1 +9 more	Copy number loss	2q13 microdeletion syndrome	GPathogenic
Select item 2578904	GRCh37/hg19 2q13(chr2:111395541-113090065)x1	ACOXL, ANAPC1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2498870	GRCh37/hg19 2q13(chr2:111368292-113191030)x1	ANAPC1, ZC3H6 +8 more	Copy number loss	not provided	GUncertain significance
Select item 1808718	GRCh37/hg19 2q13(chr2:111366256-113127751)x1	ACOXL, ANAPC1 +8 more	Copy number loss	not provided	GPathogenic
Select item 1808680	GRCh37/hg19 2q13(chr2:111365996-113111856)x3	ACOXL, ANAPC1 +7 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808613	GRCh37/hg19 2q13(chr2:111397786-113111856)x3	ACOXL, ANAPC1 +7 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807763	GRCh37/hg19 2q13(chr2:111369264-113142794)x1	ACOXL, ANAPC1 +8 more	Copy number loss	not provided	GPathogenic
Select item 1705942	GRCh37/hg19 2q13(chr2:111365995-113199850)x3	ACOXL, ANAPC1 +8 more	Copy number gain	Anemia, unspecified	GPathogenic
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 1340620	GRCh37/hg19 2q13(chr2:111893869-112172390)x3	BCL2L11	Copy number gain	not provided	GUncertain significance
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339793	GRCh37/hg19 2q13(chr2:111409518-113127751)x3	ACOXL, ANAPC1 +8 more	Copy number gain	not provided	Gnot provided
Select item 983183	GRCh37/hg19 2q13(chr2:111368818-113065741)x3	ZC3H6, ANAPC1 +7 more	Copy number gain	See cases	GLikely pathogenic
Select item 980469	GRCh37/hg19 2q12.2-13(chr2:107029680-113187742)x1	ANAPC1, SULT1C4 +28 more	Copy number loss	not provided	GPathogenic
Select item 814293	GRCh37/hg19 2q13(chr2:111520742-112240320)x3	BCL2L11, ACOXL	Copy number gain	not provided	GUncertain significance
Select item 688671	GRCh37/hg19 2q13(chr2:111388619-113137529)x3	ACOXL, ANAPC1 +8 more	Copy number gain	not provided	GPathogenic
Select item 687786	GRCh37/hg19 2q13(chr2:111388619-113199850)x3	ACOXL, ANAPC1 +8 more	Copy number gain	not provided	GPathogenic
Select item 686865	GRCh37/hg19 2q13(chr2:111382460-113115979)x3	ACOXL, ANAPC1 +7 more	Copy number gain	not provided	GPathogenic
Select item 686485	GRCh37/hg19 2q13(chr2:111382460-113137975)x3	ACOXL, ANAPC1 +8 more	Copy number gain	not provided	GPathogenic
Select item 625831	GRCh37/hg19 2q13(chr2:111395603-113251000)	ACOXL, ANAPC1 +9 more	Copy number loss	not provided	GLikely pathogenic
Select item 625548	GRCh37/hg19 2q13(chr2:111395351-113102594)	ACOXL, ANAPC1 +7 more	Copy number loss	not provided	GPathogenic
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 562655	GRCh37/hg19 2q13(chr2:110980294-113137529)x1	ACOXL, ANAPC1 +10 more	Copy number loss	not provided	GPathogenic
Select item 562650	GRCh37/hg19 2q13(chr2:111366255-113111856)x1	MERTK, TMEM87B +7 more	Copy number loss	not provided	GPathogenic
Select item 562649	GRCh37/hg19 2q13(chr2:111388618-113127751)x3	MERTK, FBLN7 +8 more	Copy number gain	not provided	GLikely pathogenic
Select item 562607	GRCh37/hg19 2q13(chr2:111872164-112530684)x3	BCL2L11, ACOXL +1 more	Copy number gain	not provided	GUncertain significance
Select item 560135	Single allele	ACOXL, BCL2L11 +20 more	Duplication	not provided	GLikely pathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443191	GRCh37/hg19 2q13(chr2:111388618-113111870)x1	ACOXL, ANAPC1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 442807	GRCh37/hg19 2q13(chr2:111388618-113115979)x1	ACOXL, ANAPC1 +7 more	Copy number loss	See cases	GLikely benign
Select item 442732	GRCh37/hg19 2q13(chr2:111400705-113111856)x1	ACOXL, ANAPC1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 441652	GRCh37/hg19 2q13(chr2:111388618-113111856)x1	ACOXL, ANAPC1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 441607	GRCh37/hg19 2q13(chr2:111388618-113137529)x1	ACOXL, ANAPC1 +8 more	Copy number loss	See cases	GUncertain significance
Select item 253673	GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1	BUB1, PSD4 +53 more	Copy number loss	See cases	GPathogenic
Select item 253541	GRCh37/hg19 2q12.3-14.1(chr2:109556627-117570152)x1	TMEM87B, IL37 +40 more	Copy number loss	See cases	GPathogenic
Select item 253388	GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1	RGPD8, ACTR3 +63 more	Copy number loss	See cases	GPathogenic
Select item 252968	GRCh37/hg19 2q13(chr2:111392259-113094793)x1	ACOXL, ANAPC1 +7 more	Copy number loss	See cases	GPathogenic
Select item 226183	GRCh37/hg19 2q13(chr2:111186302-113273657)	TTL, BCL2L11 +11 more	Copy number gain	Abnormal esophagus morphology	GLikely pathogenic
Select item 219044	GRCh37/hg19 2q13(chr2:111398336-113101220)x1	ACOXL, ANAPC1 +7 more	Copy number loss	See cases	GPathogenic

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Items: 73