VCAM1[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC126805769, LOC126805770 +548 more	Copy number gain	See cases	GPathogenic
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +194 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 2482896	NM_001078.4(VCAM1):c.25C>T (p.Leu9Phe)	VCAM1 (L9F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2328300	NM_001078.4(VCAM1):c.31G>A (p.Ala11Thr)	VCAM1 (A11T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410862	NM_001078.4(VCAM1):c.37A>T (p.Asn13Tyr)	VCAM1 (N13Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495555	NM_001078.4(VCAM1):c.107T>G (p.Leu36Arg)	VCAM1 (L36R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713843	NM_001078.4(VCAM1):c.117T>C (p.Ile39=)	VCAM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2228596	NM_001078.4(VCAM1):c.215C>T (p.Thr72Met)	VCAM1 (T72M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251658	NM_001078.4(VCAM1):c.238C>G (p.Leu80Val)	VCAM1 (L80V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 735674	NM_001078.4(VCAM1):c.341-9C>T	VCAM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2256897	NM_001078.4(VCAM1):c.386C>T (p.Ala129Val)	VCAM1 (A67V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2277873	NM_001078.4(VCAM1):c.469C>A (p.His157Asn)	VCAM1 (H95N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357766	NM_001078.4(VCAM1):c.502G>A (p.Ala168Thr)	VCAM1 (A106T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238183	NM_001078.4(VCAM1):c.511A>G (p.Lys171Glu)	VCAM1 (K109E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463626	NM_001078.4(VCAM1):c.577C>A (p.Leu193Ile)	VCAM1 (L193I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609299	NM_001078.4(VCAM1):c.614A>G (p.Asp205Gly)	VCAM1 (D143G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 731914	NM_001078.4(VCAM1):c.741C>T (p.Ser247=)	VCAM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638941	NM_001078.4(VCAM1):c.744C>T (p.Ser248=)	VCAM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2596170	NM_001078.4(VCAM1):c.781A>C (p.Lys261Gln)	VCAM1 (K199Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399537	NM_001078.4(VCAM1):c.797A>C (p.Asn266Thr)	VCAM1 (N204T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530809	NM_001078.4(VCAM1):c.899A>G (p.Asn300Ser)	VCAM1 (N238S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508558	NM_001078.4(VCAM1):c.949A>G (p.Ile317Val)	VCAM1 (I317V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221394	NM_001078.4(VCAM1):c.1012A>G (p.Met338Val)	VCAM1 (M276V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 769518	NM_001078.4(VCAM1):c.1463A>G (p.His488Arg)	VCAM1 (H396R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2254475	NM_001078.4(VCAM1):c.1508A>G (p.Gln503Arg)	VCAM1 (Q441R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350442	NM_001078.4(VCAM1):c.1657G>A (p.Gly553Arg)	VCAM1 (G553R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638942	NM_001078.4(VCAM1):c.1665A>G (p.Leu555=)	VCAM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2477556	NM_001078.4(VCAM1):c.1688C>T (p.Thr563Ile)	VCAM1 (T563I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238074	NM_001078.4(VCAM1):c.1693A>G (p.Thr565Ala)	VCAM1 (T473A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491366	NM_001078.4(VCAM1):c.2098C>G (p.Leu700Val)	VCAM1 (L608V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470368	NM_001078.4(VCAM1):c.2150T>G (p.Ile717Ser)	VCAM1 (I655S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280772	NM_001078.4(VCAM1):c.2179G>A (p.Gly727Arg)	VCAM1 (G727R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1050120	NC_000001.11:g.100741257AT[21]	VCAM1	Microsatellite	not provided	GUncertain significance
Select item 2685521	GRCh37/hg19 1p21.2-21.1(chr1:100146136-106580074)x1	AGL, AMY1A +23 more	Copy number loss	not provided	GUncertain significance
Select item 2424320	NC_000001.10:g.(?_100316599)_(101709564_?)dup	AGL, CDC14A +13 more	Duplication	Maple syrup urine disease	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1341033	GRCh37/hg19 1p21.2-21.1(chr1:100215607-105368230)x1	AGL, AMY1A +22 more	Copy number loss	not provided	GUncertain significance
Select item 814111	GRCh37/hg19 1p21.2(chr1:100704867-101205009)x3	CDC14A, GPR88 +3 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 43