Related gene-specific medical variations for Gene (Select 79674) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3149754	NM_002852.4(PTX3):c.938A>G (p.Glu313Gly)	PTX3, VEPH1 (E313G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149753	NM_002852.4(PTX3):c.797G>C (p.Arg266Thr)	PTX3, VEPH1 (R266T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149752	NM_002852.4(PTX3):c.692G>A (p.Arg231Lys)	PTX3, VEPH1 (R231K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149751	NM_002852.4(PTX3):c.530C>A (p.Ala177Glu)	PTX3, VEPH1 (A177E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149750	NM_002852.4(PTX3):c.464A>G (p.Glu155Gly)	PTX3, VEPH1 (E155G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149749	NM_002852.4(PTX3):c.422G>T (p.Arg141Leu)	PTX3, VEPH1 (R141L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149748	NM_002852.4(PTX3):c.380C>A (p.Ala127Glu)	PTX3, VEPH1 (A127E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149747	NM_002852.4(PTX3):c.376G>C (p.Asp126His)	PTX3, VEPH1 (D126H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149745	NM_002852.4(PTX3):c.359T>C (p.Leu120Pro)	PTX3, VEPH1 (L120P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149744	NM_002852.4(PTX3):c.1115A>T (p.Gln372Leu)	PTX3, VEPH1 (Q372L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062669	GRCh37/hg19 3q25.32(chr3:157029871-157147666)x1	VEPH1	Copy number loss	not specified	GUncertain significance
Select item 3061396	NM_002852.4(PTX3):c.716A>G (p.Tyr239Cys)	PTX3, VEPH1 (Y239C)	Single nucleotide variant (missense variant +1 more)	PTX3-related disorder	GUncertain significance
Select item 3061251	NM_002852.4(PTX3):c.647C>G (p.Thr216Arg)	PTX3, VEPH1 (T216R)	Single nucleotide variant (missense variant +1 more)	PTX3-related disorder	GUncertain significance
Select item 3055811	NM_002852.4(PTX3):c.355G>C (p.Glu119Gln)	PTX3, VEPH1 (E119Q)	Single nucleotide variant (missense variant +1 more)	PTX3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2632562	NM_002852.4(PTX3):c.414G>T (p.Glu138Asp)	PTX3, VEPH1 (E138D)	Single nucleotide variant (missense variant +1 more)	PTX3-related disorder	GUncertain significance
Select item 2568754	NM_002852.4(PTX3):c.302G>A (p.Arg101Lys)	PTX3, VEPH1 (R101K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555864	NM_002852.4(PTX3):c.280C>T (p.Arg94Trp)	PTX3, VEPH1 (R94W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549753	NM_002852.4(PTX3):c.440G>A (p.Arg147His)	PTX3, VEPH1 (R147H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545269	NM_002852.4(PTX3):c.1117C>A (p.Pro373Thr)	PTX3, VEPH1 (P373T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461757	NM_002852.4(PTX3):c.271G>A (p.Glu91Lys)	PTX3, VEPH1 (E91K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390855	NM_002852.4(PTX3):c.1121A>G (p.His374Arg)	PTX3, VEPH1 (H374R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353054	NM_002852.4(PTX3):c.413A>C (p.Glu138Ala)	PTX3, VEPH1 (E138A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352353	NM_002852.4(PTX3):c.997C>T (p.Leu333Phe)	PTX3, VEPH1 (L333F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304765	NM_002852.4(PTX3):c.484G>C (p.Asp162His)	PTX3, VEPH1 (D162H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284723	NM_002852.4(PTX3):c.793G>C (p.Gly265Arg)	PTX3, VEPH1 (G265R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267257	NM_002852.4(PTX3):c.251A>T (p.Glu84Val)	PTX3, VEPH1 (E84V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257969	NM_002852.4(PTX3):c.803C>T (p.Thr268Ile)	PTX3, VEPH1 (T268I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242621	NM_002852.4(PTX3):c.492C>G (p.His164Gln)	PTX3, VEPH1 (H164Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1341035	GRCh37/hg19 3q25.32(chr3:157054166-157147666)x1	VEPH1	Copy number loss	not provided	GUncertain significance
Select item 814492	GRCh37/hg19 3q25.31-25.32(chr3:156999205-157054166)x1	VEPH1	Copy number loss	not provided	GUncertain significance
Select item 784028	NM_002852.4(PTX3):c.117T>G (p.His39Gln)	PTX3, VEPH1 (H39Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 770895	NM_002852.4(PTX3):c.500A>G (p.Gln167Arg)	PTX3, VEPH1 (Q167R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 770537	NM_002852.4(PTX3):c.46T>C (p.Leu16=)	PTX3, VEPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 731088	NM_002852.4(PTX3):c.1079G>A (p.Arg360Gln)	PTX3, VEPH1 (R360Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 714212	NM_002852.4(PTX3):c.795A>T (p.Gly265=)	PTX3, VEPH1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 547928	NM_002852.4(PTX3):c.919A>G (p.Ile307Val)	PTX3, VEPH1 (I307V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 91946	NM_002852.4(PTX3):c.108T>C (p.Asn36=)	PTX3, VEPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance

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Links from Gene

Items: 37