BST2[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	LOC130063908, LOC130063909 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	LOC130064107, LOC130064108 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	ABHD8, ANKLE1 +625 more	Copy number gain	See cases	GPathogenic
Select item 155504	GRCh38/hg38 19p13.11(chr19:17246895-17730147)x1	ABHD8, ANKLE1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 153111	GRCh38/hg38 19p13.11(chr19:17308207-17705382)x1	ANO8, BISPR +46 more	Copy number loss	See cases	GUncertain significance
Select item 2336620	NM_004335.4(BST2):c.320C>A (p.Ala107Asp)	BST2 (A107D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602346	NM_004335.4(BST2):c.166G>A (p.Gly56Ser)	BST2 (G56S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323653	NM_004335.4(BST2):c.55C>T (p.Arg19Cys)	BST2 (R19C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541380	NM_004335.4(BST2):c.37A>G (p.Met13Val)	BST2, LOC130063932 (M13V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 523645	NM_001304547.2(MVB12A):c.-406-53_-406-52insAGTCTGGGGGCGGGGCCTG	BISPR, BST2 +2 more	Insertion (intron variant)	Human immunodeficiency virus type 1, rapid progression to AIDS	Gassociation
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 560145	Single allele	ABHD8, ANKLE1 +16 more	Duplication	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 441789	GRCh37/hg19 19p13.11(chr19:17325373-17840956)x1	ABHD8, ANKLE1 +21 more	Copy number loss	See cases	GUncertain significance
Select item 424641	GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1	HSH2D, KLF2 +46 more	Copy number loss	not provided	GPathogenic
Select item 395439	GRCh37/hg19 19p13.11(chr19:17514059-17516353)x1	BST2	Copy number loss	See cases	GUncertain significance
Select item 253947	GRCh37/hg19 19p13.11(chr19:17514059-17899363)x3	NIBAN3, PGLS-DT +10 more	Copy number gain	See cases	GUncertain significance
Select item 253857	GRCh37/hg19 19p13.11(chr19:17001280-17536087)x3	ABHD8, ANKLE1 +16 more	Copy number gain	See cases	GUncertain significance

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Items: 21