"Clinical Genomics Laboratory, Washington University in St. Louis"[sub - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 431835	NM_000459.5(TEK):c.2078C>T (p.Thr693Ile)	TEK (T693I +2 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations +2 more	GUncertain significance
Select item 9293	NM_000459.5(TEK):c.2545C>T (p.Arg849Trp)	TEK (R849W +4 more)	Single nucleotide variant (missense variant)	Segmental undergrowth associated with venous malformation without capillary component +2 more	GPathogenic
Select item 1691346	NM_000459.5(TEK):c.2689T>C (p.Tyr897His)	TEK (Y749H +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1691345	NM_000459.5(TEK):c.2689T>A (p.Tyr897Asn)	TEK (Y749N +4 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations +1 more	GPathogenic/Likely pathogenic
Select item 30053	NM_000459.5(TEK):c.2690A>G (p.Tyr897Cys)	TEK (Y897C +4 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations +1 more	GPathogenic
Select item 981229	NM_000459.5(TEK):c.2740C>T (p.Leu914Phe)	TEK (L766F +4 more)	Single nucleotide variant (missense variant)	Vascular malformation +1 more	GPathogenic
Select item 3238638	NM_000459.5(TEK):c.2750G>T (p.Ser917Ile)	TEK (S769I +4 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations	GLikely pathogenic
Select item 452884	NM_000459.5(TEK):c.2753G>A (p.Arg918His)	TEK (R918H +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 930496	NM_000459.5(TEK):c.2773G>A (p.Ala925Thr)	TEK (A777T +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3238632	NM_000459.5(TEK):c.2865G>C (p.Leu955Phe)	TEK (L807F +4 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 981230	NM_000459.5(TEK):c.3295C>T (p.Arg1099Ter)	TEK (R1055* +4 more)	Single nucleotide variant (nonsense)	Multiple cutaneous and mucosal venous malformations	GPathogenic
Select item 1701565	NM_000459.5(TEK):c.3314_3316delinsACC (p.Thr1105_Thr1106delinsAsnPro)	TEK	Indel (missense variant)	not provided +1 more	GPathogenic
Select item 3238631	NM_000459.5(TEK):c.3323_3324insCGTGAATACCACGCTTTATGAGAAGTAGTA (p.Tyr1108_Glu1109insValAsnThrThrLeuTyrGluLysTer)	TEK	Insertion (nonsense +2 more)	Multiple cutaneous and mucosal venous malformations	GLikely pathogenic
Select item 981231	NM_000459.5(TEK):c.3324T>A (p.Tyr1108Ter)	TEK (Y1064* +4 more)	Single nucleotide variant (nonsense)	Multiple cutaneous and mucosal venous malformations	GPathogenic
Select item 1285389	NM_000459.5(TEK):c.3325G>T (p.Glu1109Ter)	TEK (E1065* +4 more)	Single nucleotide variant (nonsense)	Segmental undergrowth associated with venous malformation without capillary component +2 more	GPathogenic/Likely pathogenic
Select item 981232	NM_000459.5(TEK):c.3343G>T (p.Gly1115Ter)	TEK (G1071* +4 more)	Single nucleotide variant (nonsense)	Multiple cutaneous and mucosal venous malformations	GPathogenic