AGBL2[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic
Select item 791546	NM_024783.4(AGBL2):c.2706G>A (p.Pro902=)	AGBL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3094842	NM_024783.4(AGBL2):c.2688G>C (p.Leu896Phe)	AGBL2 (L896F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344239	NM_024783.4(AGBL2):c.2678A>G (p.Tyr893Cys)	AGBL2 (Y893C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734159	NM_024783.4(AGBL2):c.2672C>T (p.Ala891Val)	AGBL2 (A891V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3094834	NM_024783.4(AGBL2):c.2623T>G (p.Trp875Gly)	AGBL2 (W875G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403673	NM_024783.4(AGBL2):c.2583A>G (p.Ile861Met)	AGBL2 (I861M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779198	NM_024783.4(AGBL2):c.2556A>G (p.Thr852=)	AGBL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2208440	NM_024783.4(AGBL2):c.2381C>T (p.Thr794Ile)	AGBL2 (T794I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336293	NM_024783.4(AGBL2):c.2249A>T (p.Lys750Ile)	AGBL2 (K750I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481530	NM_024783.4(AGBL2):c.2159C>T (p.Ser720Phe)	AGBL2 (S720F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737984	NM_024783.4(AGBL2):c.2147+10A>G	AGBL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2262892	NM_024783.4(AGBL2):c.2123T>A (p.Ile708Asn)	AGBL2 (I708N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517380	NM_024783.4(AGBL2):c.2047C>T (p.Leu683Phe)	AGBL2 (L683F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094817	NM_024783.4(AGBL2):c.1951C>G (p.Leu651Val)	AGBL2 (L651V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402135	NM_024783.4(AGBL2):c.1747C>T (p.Arg583Ter)	AGBL2 (R583*)	Single nucleotide variant (nonsense)	Abnormal brain morphology	GLikely pathogenic
Select item 3094815	NM_024783.4(AGBL2):c.1727G>A (p.Arg576His)	AGBL2 (R576H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610530	NM_024783.4(AGBL2):c.1622T>C (p.Met541Thr)	AGBL2 (M541T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302366	NM_024783.4(AGBL2):c.1595T>A (p.Phe532Tyr)	AGBL2 (F532Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288882	NM_024783.4(AGBL2):c.1549G>A (p.Gly517Arg)	AGBL2 (G517R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275593	NM_024783.4(AGBL2):c.1532A>T (p.Tyr511Phe)	AGBL2 (Y511F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 761860	NM_024783.4(AGBL2):c.1479del (p.Phe493fs)	AGBL2 (F493fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 3094804	NM_024783.4(AGBL2):c.1475T>C (p.Ile492Thr)	AGBL2 (I492T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257244	NM_024783.4(AGBL2):c.1411G>A (p.Val471Ile)	AGBL2 (V471I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2455925	NM_024783.4(AGBL2):c.1357A>C (p.Lys453Gln)	AGBL2 (K453Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466422	NM_024783.4(AGBL2):c.1308G>T (p.Leu436Phe)	AGBL2 (L436F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463849	NM_024783.4(AGBL2):c.1279A>G (p.Arg427Gly)	AGBL2 (R427G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535836	NM_024783.4(AGBL2):c.1259G>C (p.Cys420Ser)	AGBL2 (C420S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353934	NM_024783.4(AGBL2):c.1174T>G (p.Phe392Val)	AGBL2 (F392V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615822	NM_024783.4(AGBL2):c.1106A>T (p.Asp369Val)	AGBL2 (D369V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362619	NM_024783.4(AGBL2):c.995A>T (p.Tyr332Phe)	AGBL2 (Y332F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275583	NM_024783.4(AGBL2):c.947C>T (p.Ala316Val)	AGBL2 (A316V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2403020	NM_024783.4(AGBL2):c.824G>A (p.Gly275Glu)	AGBL2 (G275E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094864	NM_024783.4(AGBL2):c.769A>G (p.Thr257Ala)	AGBL2 (T257A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770599	NM_024783.4(AGBL2):c.684A>G (p.Gln228=)	AGBL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3275573	NM_024783.4(AGBL2):c.629G>A (p.Gly210Glu)	AGBL2 (G210E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1301782	NM_024783.4(AGBL2):c.619C>T (p.Gln207Ter)	AGBL2 (Q207*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 712078	NM_024783.4(AGBL2):c.554G>A (p.Cys185Tyr)	AGBL2 (C185Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3094860	NM_024783.4(AGBL2):c.547A>G (p.Ile183Val)	AGBL2 (I183V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780970	NM_024783.4(AGBL2):c.527T>G (p.Leu176Arg)	AGBL2 (L176R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2342755	NM_024783.4(AGBL2):c.476G>A (p.Arg159His)	AGBL2 (R159H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555389	NM_024783.4(AGBL2):c.463G>A (p.Glu155Lys)	AGBL2 (E155K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1206176	NM_024783.4(AGBL2):c.287-23_287-22dup	AGBL2	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 734243	NM_024783.4(AGBL2):c.198G>C (p.Leu66Phe)	AGBL2 (L66F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3094801	NM_024783.4(AGBL2):c.143G>A (p.Arg48Gln)	AGBL2 (R48Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094800	NM_024783.4(AGBL2):c.128C>T (p.Thr43Met)	AGBL2 (T43M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094849	NM_024783.4(AGBL2):c.34A>T (p.Thr12Ser)	AGBL2 (T12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426467	NC_000011.9:g.(?_45827353)_(47804770_?)del	ACP2, AGBL2 +40 more	Deletion	Leukocyte adhesion deficiency type II	GPathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527642	GRCh37/hg19 11p11.2-11.12(chr11:47711244-48976284)	AGBL2, FNBP4 +8 more	Copy number gain	not specified	GUncertain significance
Select item 1000344	NC_000011.9:g.(?_45827353)_(47804770_?)dup	ARHGAP1, ATG13 +40 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563867	GRCh37/hg19 11p11.2-11.12(chr11:47720039-48891877)x3	OR4S1, NUP160 +8 more	Copy number gain	not provided	GLikely benign
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 59