VGF[gene] - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 147676	GRCh38/hg38 7q22.1(chr7:101130561-101255628)x3	AP1S1, CLDN15 +23 more	Copy number gain	See cases	GBenign
Select item 2370569	NM_003378.4(VGF):c.1723C>T (p.His575Tyr)	VGF (H575Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356485	NM_003378.4(VGF):c.1694A>G (p.His565Arg)	VGF (H565R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324199	NM_003378.4(VGF):c.1658G>A (p.Arg553Gln)	VGF (R553Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317820	NM_003378.4(VGF):c.1643A>G (p.Asn548Ser)	VGF (N548S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611087	NM_003378.4(VGF):c.1602G>C (p.Glu534Asp)	VGF (E534D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594492	NM_003378.4(VGF):c.1591G>T (p.Asp531Tyr)	VGF (D531Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614291	NM_003378.4(VGF):c.1564G>T (p.Asp522Tyr)	VGF (D522Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188488	NM_003378.4(VGF):c.1555G>A (p.Glu519Lys)	VGF (E519K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296022	NM_003378.4(VGF):c.1550G>T (p.Arg517Leu)	VGF (R517L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188485	NM_003378.4(VGF):c.1535C>T (p.Ala512Val)	VGF (A512V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188484	NM_003378.4(VGF):c.1526C>T (p.Pro509Leu)	VGF (P509L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401273	NM_003378.4(VGF):c.1523C>T (p.Pro508Leu)	VGF (P508L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188483	NM_003378.4(VGF):c.1508T>C (p.Val503Ala)	VGF (V503A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188482	NM_003378.4(VGF):c.1486G>T (p.Ala496Ser)	VGF (A496S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555469	NM_003378.4(VGF):c.1481C>A (p.Pro494His)	VGF (P494H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332015	NM_003378.4(VGF):c.1478C>G (p.Pro493Arg)	VGF (P493R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615063	NM_003378.4(VGF):c.1478C>A (p.Pro493His)	VGF (P493H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712058	NM_003378.4(VGF):c.1476G>C (p.Pro492=)	VGF	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3188481	NM_003378.4(VGF):c.1468C>T (p.Pro490Ser)	VGF (P490S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269190	NM_003378.4(VGF):c.1326G>C (p.Glu442Asp)	VGF (E442D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 736014	NM_003378.4(VGF):c.1302G>C (p.Gly434=)	VGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2376158	NM_003378.4(VGF):c.1286G>A (p.Arg429Gln)	VGF (R429Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488169	NM_003378.4(VGF):c.1283G>A (p.Arg428Gln)	VGF (R428Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344210	NM_003378.4(VGF):c.1283G>C (p.Arg428Pro)	VGF (R428P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518733	NM_003378.4(VGF):c.1279C>T (p.His427Tyr)	VGF (H427Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718872	NM_003378.4(VGF):c.1257C>G (p.Arg419=)	VGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2607982	NM_003378.4(VGF):c.1146T>A (p.Asp382Glu)	LOC129998999, VGF (D382E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273115	NM_003378.4(VGF):c.1121G>C (p.Gly374Ala)	LOC129998999, VGF (G374A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332018	NM_003378.4(VGF):c.1096G>A (p.Glu366Lys)	VGF (E366K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551613	NM_003378.4(VGF):c.1064C>T (p.Ala355Val)	VGF (A355V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620057	NM_003378.4(VGF):c.1046G>A (p.Arg349Gln)	VGF (R349Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188480	NM_003378.4(VGF):c.1045C>T (p.Arg349Trp)	VGF (R349W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392095	NM_003378.4(VGF):c.1004A>T (p.Tyr335Phe)	VGF (Y335F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491581	NM_003378.4(VGF):c.990C>A (p.Asp330Glu)	VGF (D330E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729859	NM_003378.4(VGF):c.981C>A (p.Leu327=)	VGF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2355769	NM_003378.4(VGF):c.946C>A (p.Gln316Lys)	VGF (Q316K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722382	NM_003378.4(VGF):c.922C>A (p.Arg308=)	VGF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726771	NM_003378.4(VGF):c.813C>G (p.Gly271=)	VGF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2310712	NM_003378.4(VGF):c.790C>T (p.Pro264Ser)	VGF (P264S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285421	NM_003378.4(VGF):c.758C>T (p.Ser253Phe)	VGF (S253F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741264	NM_003378.4(VGF):c.744G>C (p.Gly248=)	VGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2398128	NM_003378.4(VGF):c.722T>A (p.Leu241His)	VGF (L241H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188491	NM_003378.4(VGF):c.650T>G (p.Val217Gly)	VGF (V217G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533046	NM_003378.4(VGF):c.637T>C (p.Phe213Leu)	VGF (F213L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345040	NM_003378.4(VGF):c.631G>A (p.Gly211Arg)	VGF (G211R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348534	NM_003378.4(VGF):c.586A>G (p.Asn196Asp)	VGF (N196D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569701	NM_003378.4(VGF):c.581G>A (p.Arg194Gln)	VGF (R194Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623213	NM_003378.4(VGF):c.572C>G (p.Thr191Arg)	VGF (T191R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332017	NM_003378.4(VGF):c.550G>C (p.Glu184Gln)	VGF (E184Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240902	NM_003378.4(VGF):c.542C>A (p.Ala181Glu)	VGF (A181E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522129	NM_003378.4(VGF):c.532C>G (p.Gln178Glu)	VGF (Q178E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304941	NM_003378.4(VGF):c.493G>C (p.Glu165Gln)	VGF (E165Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188490	NM_003378.4(VGF):c.485T>A (p.Leu162Gln)	VGF (L162Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229274	NM_003378.4(VGF):c.322G>A (p.Glu108Lys)	VGF (E108K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776248	NM_003378.4(VGF):c.319G>C (p.Glu107Gln)	VGF (E107Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2297114	NM_003378.4(VGF):c.287C>T (p.Pro96Leu)	VGF (P96L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188489	NM_003378.4(VGF):c.271G>A (p.Asp91Asn)	VGF (D91N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332016	NM_003378.4(VGF):c.242C>T (p.Ala81Val)	VGF (A81V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356254	NM_003378.4(VGF):c.239G>A (p.Arg80Gln)	VGF (R80Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623259	NM_003378.4(VGF):c.235C>T (p.Pro79Ser)	VGF (P79S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588795	NM_003378.4(VGF):c.85G>A (p.Glu29Lys)	VGF (E29K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530830	NM_003378.4(VGF):c.71C>T (p.Pro24Leu)	VGF (P24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062968	GRCh37/hg19 7q22.1(chr7:100454649-101886704)x1	ACHE, AP1S1 +20 more	Copy number loss	not specified	GPathogenic
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2684496	GRCh37/hg19 7q22.1(chr7:100532371-101116321)x3	AP1S1, CLDN15 +13 more	Copy number gain	not provided	GUncertain significance
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	ACHE, ACTL6B +75 more	Deletion	not provided	GUncertain significance
Select item 929826	GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1	ACHE, ACTL6B +77 more	Copy number loss	See cases	GLikely pathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	not provided	GPathogenic
Select item 560088	Single allele	VGF, TRIM56 +5 more	Duplication	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 89