BST1[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	ABLIM2, ACOX3 +365 more	Copy number loss	See cases	GPathogenic
Select item 626310	NC_000004.12:g.8398067_17505522inv	ACOX3, BOD1L1 +193 more	Inversion	Dihydropteridine reductase deficiency	GPathogenic
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 57509	GRCh38/hg38 4p15.33-15.31(chr4:14061129-20121834)x1	BST1, C1QTNF7 +98 more	Copy number loss	See cases	GPathogenic
Select item 58026	GRCh38/hg38 4p15.33-15.31(chr4:14659764-18274924)x3	BST1, C1QTNF7 +84 more	Copy number gain	See cases	GPathogenic
Select item 3135332	NM_004334.3(BST1):c.26C>G (p.Ser9Trp)	BST1 (S9W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135334	NM_004334.3(BST1):c.58C>T (p.Leu20Phe)	BST1 (L20F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135335	NM_004334.3(BST1):c.92G>C (p.Arg31Pro)	BST1 (R31P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3135329	NM_004334.3(BST1):c.143T>C (p.Leu48Pro)	BST1 (L48P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135330	NM_004334.3(BST1):c.157G>A (p.Glu53Lys)	BST1 (E53K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288548	NM_004334.3(BST1):c.184C>G (p.Gln62Glu)	BST1 (Q62E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261964	NM_004334.3(BST1):c.260C>A (p.Pro87His)	BST1 (P87H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135331	NM_004334.3(BST1):c.260C>T (p.Pro87Leu)	BST1 (P87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769628	NM_004334.3(BST1):c.301A>G (p.Ile101Val)	BST1 (I101V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2535932	NM_004334.3(BST1):c.309A>C (p.Arg103Ser)	BST1 (R103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377160	NM_004334.3(BST1):c.358G>A (p.Ala120Thr)	BST1 (A120T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746338	NM_004334.3(BST1):c.370C>T (p.Arg124Cys)	BST1 (R124C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3135333	NM_004334.3(BST1):c.371G>A (p.Arg124His)	BST1 (R124H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406330	NM_004334.3(BST1):c.373C>T (p.Arg125Cys)	BST1 (R125C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480050	NM_004334.3(BST1):c.390C>G (p.Ser130Arg)	BST1 (S130R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717839	NM_004334.3(BST1):c.435A>G (p.Arg145=)	BST1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2385599	NM_004334.3(BST1):c.440A>G (p.Lys147Arg)	BST1 (K147R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511247	NM_004334.3(BST1):c.499C>G (p.Pro167Ala)	BST1 (P167A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2210760	NM_004334.3(BST1):c.520A>G (p.Arg174Gly)	BST1 (R174G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594851	NM_004334.3(BST1):c.550T>C (p.Ser184Pro)	BST1 (S184P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315916	NM_004334.3(BST1):c.553G>C (p.Gly185Arg)	BST1 (G185R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535649	NM_004334.3(BST1):c.590C>T (p.Thr197Ile)	BST1 (T197I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348167	NM_004334.3(BST1):c.662G>A (p.Arg221Gln)	BST1 (R221Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 753442	NM_004334.3(BST1):c.663A>G (p.Arg221=)	BST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 788488	NM_004334.3(BST1):c.694G>A (p.Gly232Arg)	BST1 (G232R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2541279	NM_004334.3(BST1):c.697C>T (p.Pro233Ser)	BST1 (P233S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767950	NM_004334.3(BST1):c.715G>A (p.Gly239Arg)	BST1 (G239R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2369240	NM_004334.3(BST1):c.797T>G (p.Val266Gly)	BST1 (V266G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304787	NM_004334.3(BST1):c.869A>C (p.Gln290Pro)	BST1 (Q290P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261965	NM_004334.3(BST1):c.920C>G (p.Pro307Arg)	BST1 (P307R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 2685107	GRCh37/hg19 4p15.33-15.2(chr4:12238766-23083496)x1	ADGRA3, BOD1L1 +26 more	Copy number loss	not provided	GLikely pathogenic
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	USP17L24, USP17L25 +132 more	Copy number loss	not provided	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2423660	NC_000004.11:g.(?_15477557)_(16228080_?)dup	BST1, CC2D2A +7 more	Duplication	not provided	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1340782	GRCh37/hg19 4p16.1-15.32(chr4:9577432-16223471)x3	BOD1L1, BST1 +18 more	Copy number gain	not provided	GLikely pathogenic
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	FGFBP2, SMIM20 +161 more	Copy number gain	not provided	GPathogenic
Select item 1180545	GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	RGS12, RNF212 +140 more	Copy number loss	not provided	GPathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 816497	GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1	ADD1, ABLIM2 +146 more	Copy number loss	See cases	GPathogenic
Select item 814529	GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1	ABLIM2, ACOX3 +65 more	Copy number loss	not provided	GLikely pathogenic
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 809719	GRCh37/hg19 4p15.33-15.2(chr4:13529798-22750583)x1	CPEB2, ADGRA3 +25 more	Copy number loss	not provided	GUncertain significance
Select item 625699	GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141)	ADGRA3, ANAPC4 +42 more	Copy number loss	not provided	GPathogenic
Select item 562884	GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1	ABLIM2, ACOX3 +108 more	Copy number loss	not provided	GPathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 443045	GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1	NELFA, NICOL1 +130 more	Copy number loss	See cases	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253431	GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	BOD1L1, LDB2 +161 more	Copy number loss	See cases	GPathogenic
Select item 253400	GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3	LAP3, CC2D2A +71 more	Copy number gain	See cases	GPathogenic
Select item 219020	GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1	C4orf50, EVC +140 more	Copy number loss	See cases	GPathogenic

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Items: 81