12681[HGNC] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic
Select item 2352473	NM_003377.5(VEGFB):c.8C>T (p.Pro3Leu)	VEGFB (P3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270995	NM_003377.5(VEGFB):c.28C>G (p.Leu10Val)	LOC130005920, VEGFB (L10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593651	NM_003377.5(VEGFB):c.31G>A (p.Ala11Thr)	LOC130005920, VEGFB (A11T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331998	NM_003377.5(VEGFB):c.53C>G (p.Pro18Arg)	LOC130005920, VEGFB (P18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596885	NM_003377.5(VEGFB):c.68T>C (p.Val23Ala)	VEGFB (V23A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539151	NM_003377.5(VEGFB):c.86C>G (p.Pro29Arg)	VEGFB (P29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590225	NM_003377.5(VEGFB):c.131G>A (p.Arg44His)	VEGFB (R44H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615410	NM_003377.5(VEGFB):c.133G>A (p.Ala45Thr)	VEGFB (A45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773526	NM_003377.5(VEGFB):c.147C>T (p.Pro49=)	VEGFB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2210662	NM_003377.5(VEGFB):c.149G>A (p.Arg50Gln)	VEGFB (R50Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188437	NM_003377.5(VEGFB):c.153G>C (p.Glu51Asp)	VEGFB (E51D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188438	NM_003377.5(VEGFB):c.221C>G (p.Thr74Ser)	VEGFB (T74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641909	NM_003377.5(VEGFB):c.286C>G (p.Gln96Glu)	VEGFB (Q96E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3188439	NM_003377.5(VEGFB):c.292C>T (p.Arg98Trp)	VEGFB (R98W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292422	NM_003377.5(VEGFB):c.293G>A (p.Arg98Gln)	VEGFB (R98Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188440	NM_003377.5(VEGFB):c.313C>T (p.Arg105Trp)	VEGFB (R105W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257030	NM_003377.5(VEGFB):c.349G>A (p.Glu117Lys)	VEGFB (E117K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470144	NM_003377.5(VEGFB):c.365G>A (p.Cys122Tyr)	VEGFB (C122Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188441	NM_003377.5(VEGFB):c.402G>T (p.Lys134Asn)	VEGFB (K134N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769376	NM_003377.5(VEGFB):c.408C>T (p.Asp136=)	VEGFB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786196	NM_003377.5(VEGFB):c.443G>A (p.Arg148His)	VEGFB (R148H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3188442	NM_003377.5(VEGFB):c.452C>T (p.Pro151Leu)	VEGFB (P151L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364447	NM_003377.5(VEGFB):c.497C>A (p.Thr166Asn)	VEGFB (T166N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262894	NM_003377.5(VEGFB):c.502C>T (p.Pro168Ser)	VEGFB (P168S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231759	NM_003377.5(VEGFB):c.520C>T (p.Pro174Ser)	VEGFB (P174S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534730	NM_003377.5(VEGFB):c.544A>G (p.Thr182Ala)	VEGFB (T182A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534731	NM_003377.5(VEGFB):c.547A>G (p.Thr183Ala)	VEGFB (H149R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2346029	NM_003377.5(VEGFB):c.553G>A (p.Ala185Thr)	VEGFB (R151H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534732	NM_003377.5(VEGFB):c.608C>T (p.Ala203Val)	VEGFB (A203V)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 718555	NM_003377.5(VEGFB):c.616G>A (p.Gly206Arg)	VEGFB (G206R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3244550	NC_000011.9:g.(?_63731700)_(64572142_?)del	BAD, CATSPERZ +28 more	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685408	GRCh37/hg19 11q13.1(chr11:63643711-64533636)x1	BAD, CATSPERZ +29 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 634998	dup(11)(q13.1q13.1)	ATG2A, BAD +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 221479	GRCh37/hg19 11q13.1(chr11:63995089-64012419)x3	DNAJC4, FKBP2 +3 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 42