ClinVar for Gene (Select 3596) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3045158	NM_002188.3(IL13):c.356G>A (p.Arg119Gln)	IL13 (R119Q +1 more)	Single nucleotide variant (missense variant)	IL13-related condition	GBenign
Select item 3043401	NM_002188.3(IL13):c.334-9G>T	IL13	Single nucleotide variant (intron variant)	IL13-related condition	GLikely benign
Select item 2556864	NM_002188.3(IL13):c.119C>G (p.Ser40Cys)	IL13 (S40C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2506534	GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686)	ACSL6, ADAMTS19 +44 more	Copy number loss	Houge-Janssens syndrome 3	GPathogenic
Select item 2380190	NM_002188.3(IL13):c.8C>T (p.Pro3Leu)	IL13 (P3L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2289187	NM_002188.3(IL13):c.239C>T (p.Ala80Val)	IL13 (A15V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785136	NM_002188.3(IL13):c.153C>A (p.Val51=)	IL13	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 559504	GRCh37/hg19 5q31.1(chr5:131484039-132998360)x3	SLC22A4, LEAP2 +19 more	Copy number gain	Blepharophimosis +5 more	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, CCDC69 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +1157 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	LOC129994691, LOC129994692 +263 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	ACSL6, ACSL6-AS1 +200 more	Copy number loss	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 14673	NM_002188.3(IL13):c.431A>G (p.Gln144Arg)	IL13 (Q144R +1 more)	Single nucleotide variant (missense variant)	IL13-related condition	GBenign
Select item 14672	NM_001354991.2(IL13):c.-93+487C>T	IL13	Single nucleotide variant (5 prime UTR variant +1 more)	Inherited susceptibility to asthma	Grisk factor

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Links from Gene

Items: 24