G3BP1[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +1157 more	Copy number gain	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 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 2295770	NM_005754.3(G3BP1):c.343G>C (p.Ala115Pro)	G3BP1 (A115P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235536	NM_005754.3(G3BP1):c.692C>A (p.Ser231Tyr)	G3BP1 (S231Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485613	NM_005754.3(G3BP1):c.781C>T (p.Pro261Ser)	G3BP1 (P261S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504785	NM_005754.3(G3BP1):c.955+3A>G	G3BP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2556033	NM_005754.3(G3BP1):c.992G>A (p.Arg331Gln)	G3BP1 (R331Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311793	NM_005754.3(G3BP1):c.1016G>A (p.Ser339Asn)	G3BP1 (S339N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424627	NC_000005.9:g.(?_150885126)_(151304110_?)dup	FAT2, G3BP1 +3 more	Duplication	not provided	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
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