VEGFA[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC123620117, LOC123620118 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 149124	GRCh38/hg38 6p21.1(chr6:43537357-43784452)x3	GTPBP2, LOC121132685 +27 more	Copy number gain	See cases	GUncertain significance
Select item 152076	GRCh38/hg38 6p21.1(chr6:43656888-44382430)x3	AARS2, CAPN11 +85 more	Copy number gain	See cases	GLikely benign
Select item 12224	NM_001025366.2(VEGFA):c.-2055A>C	POLR1C, VEGFA	Single nucleotide variant	Atherosclerosis, susceptibility to	GBenign
Select item 1245515	NM_001318876.2(POLR1C):c.945+240786A>G	POLR1C, VEGFA +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226235	NM_001318876.2(POLR1C):c.945+240822A>G	LOC129996535, POLR1C +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 12223	NM_003376.6(VEGFA):c.-94C>G	POLR1C, VEGFA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1007657	NM_003376.6(VEGFA):c.7_8dup (p.Asp3fs)	POLR1C, VEGFA (D3fs)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 809941	NM_003376.6(VEGFA):c.19_22dup (p.Thr8fs)	POLR1C, VEGFA (T8fs)	Microsatellite (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 1206397	NM_003376.6(VEGFA):c.64C>T (p.Arg22Trp)	POLR1C, VEGFA (R22W)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2346464	NM_003376.6(VEGFA):c.89G>A (p.Arg30His)	POLR1C, VEGFA (R30H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 761435	NM_003376.6(VEGFA):c.129G>A (p.Glu43=)	POLR1C, VEGFA	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2569575	NM_003376.6(VEGFA):c.191T>C (p.Phe64Ser)	POLR1C, VEGFA (F64S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2355928	NM_003376.6(VEGFA):c.214G>T (p.Gly72Trp)	POLR1C, VEGFA (G72W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 761761	NM_003376.6(VEGFA):c.222C>G (p.Ala74=)	POLR1C, VEGFA	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 751456	NM_003376.6(VEGFA):c.225G>A (p.Glu75=)	POLR1C, VEGFA	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2569576	NM_003376.6(VEGFA):c.235G>A (p.Ala79Thr)	POLR1C, VEGFA (A79T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2569577	NM_003376.6(VEGFA):c.239C>G (p.Ala80Gly)	POLR1C, VEGFA (A80G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2534724	NM_003376.6(VEGFA):c.274C>T (p.Pro92Ser)	POLR1C, VEGFA (P92S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 809942	NM_003376.6(VEGFA):c.283G>T (p.Gly95Trp)	POLR1C, VEGFA (G95W)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3044111	NM_003376.6(VEGFA):c.288G>A (p.Glu96=)	POLR1C, VEGFA	Single nucleotide variant (synonymous variant +2 more)	VEGFA-related condition	GLikely benign
Select item 740991	NM_003376.6(VEGFA):c.294A>G (p.Glu98=)	POLR1C, VEGFA	Single nucleotide variant (synonymous variant +2 more)	VEGFA-related condition +1 more	GLikely benign
Select item 2569578	NM_003376.6(VEGFA):c.323A>G (p.Gln108Arg)	POLR1C, VEGFA (Q108R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2551246	NM_003376.6(VEGFA):c.335G>T (p.Gly112Val)	POLR1C, VEGFA (G112V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2569579	NM_003376.6(VEGFA):c.337G>T (p.Ala113Ser)	POLR1C, VEGFA (A113S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2261356	NM_003376.6(VEGFA):c.341G>C (p.Arg114Pro)	POLR1C, VEGFA (R114P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2534725	NM_003376.6(VEGFA):c.398C>A (p.Ala133Glu)	POLR1C, VEGFA (A133E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2534727	NM_003376.6(VEGFA):c.431G>C (p.Gly144Ala)	POLR1C, VEGFA (G144A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2534728	NM_003376.6(VEGFA):c.434G>C (p.Arg145Pro)	POLR1C, VEGFA (R145P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2478012	NM_003376.6(VEGFA):c.469A>C (p.Ser157Arg)	POLR1C, VEGFA (S157R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2534729	NM_003376.6(VEGFA):c.511C>G (p.Arg171Gly)	POLR1C, VEGFA (R171G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2632972	NM_003376.6(VEGFA):c.576_589del (p.Ala193fs)	POLR1C, VEGFA (A13fs +1 more)	Deletion (frameshift variant +1 more)	VEGFA-related condition	GLikely pathogenic
Select item 744154	NM_003376.6(VEGFA):c.588C>T (p.Leu196=)	POLR1C, VEGFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2227959	NM_003376.6(VEGFA):c.599A>T (p.His200Leu)	POLR1C, VEGFA (H20L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1242677	NM_003376.6(VEGFA):c.658+290G>C	POLR1C, VEGFA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233590	NM_003376.6(VEGFA):c.659-99G>A	POLR1C, VEGFA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2552874	NM_003376.6(VEGFA):c.692A>C (p.Tyr231Ser)	POLR1C, VEGFA (Y51S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1285895	NM_003376.6(VEGFA):c.855+175C>T	POLR1C, VEGFA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259260	NM_003376.6(VEGFA):c.856-28C>T	POLR1C, VEGFA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 146168	GRCh38/hg38 6p21.1(chr6:43779427-43782839)x3	POLR1C, VEGFA	Copy number gain	See cases	GLikely benign
Select item 290393	NM_003376.6(VEGFA):c.973C>T (p.Arg325Ter)	POLR1C, VEGFA (R325* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2328107	NM_003376.6(VEGFA):c.985A>G (p.Lys329Glu)	POLR1C, VEGFA (K329E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 723286	NM_003376.6(VEGFA):c.1032C>T (p.Ser344=)	POLR1C, VEGFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 741615	NM_003376.6(VEGFA):c.1034+7T>C	POLR1C, VEGFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2533592	NM_003376.6(VEGFA):c.1034+42C>T	POLR1C, VEGFA (P359L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1278094	NM_003376.6(VEGFA):c.1034+103T>C	POLR1C, VEGFA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 728162	NM_003376.6(VEGFA):c.1113C>T (p.Asn371=)	POLR1C, VEGFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3061283	NM_003376.6(VEGFA):c.1154A>G (p.Glu385Gly)	POLR1C, VEGFA (E153G +8 more)	Single nucleotide variant (missense variant +1 more)	VEGFA-related condition	GUncertain significance
Select item 2656612	NM_003376.6(VEGFA):c.1182G>A (p.Arg394=)	POLR1C, VEGFA	Single nucleotide variant (synonymous variant +2 more)	VEGFA-related condition +1 more	GLikely benign
Select item 2571392	NM_003376.6(VEGFA):c.*237C>T	POLR1C, VEGFA	Single nucleotide variant (3 prime UTR variant +1 more)	Cholangiocarcinoma	Gother
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	MRPS18A, PEX6 +43 more	Deletion	not provided	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 1809270	GRCh37/hg19 6p21.1(chr6:43571555-44154599)x3	CAPN11, GTPBP2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic

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Items: 61