ClinVar for MedGen (Select 934606) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376501	NM_000459.5(TEK):c.2491G>T (p.Gly831Trp)	TEK (G683W +4 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations +1 more	GLikely pathogenic
Select item 3236693	NM_000459.5(TEK):c.475+1G>T	TEK	Single nucleotide variant (splice donor variant)	Glaucoma 3, primary congenital, E	GLikely pathogenic
Select item 3236691	NM_000459.5(TEK):c.3011G>A (p.Trp1004Ter)	TEK (W1003* +4 more)	Single nucleotide variant (nonsense)	Glaucoma 3, primary congenital, E	GLikely pathogenic
Select item 3235894	NM_000459.5(TEK):c.3200+1G>A	TEK	Single nucleotide variant (splice donor variant)	Glaucoma 3, primary congenital, E	GLikely pathogenic
Select item 2582395	NM_000459.5(TEK):c.434del (p.Lys145fs)	TEK (K145fs +1 more)	Deletion (frameshift variant)	Glaucoma 3, primary congenital, E	GLikely pathogenic
Select item 2570605	NM_000459.5(TEK):c.2062A>G (p.Lys688Glu)	TEK (K688E +2 more)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, E	GUncertain significance
Select item 1687360	NM_000459.5(TEK):c.3165C>A (p.Tyr1055Ter)	TEK (Y1011* +4 more)	Single nucleotide variant (nonsense)	Glaucoma 3, primary congenital, E	GLikely pathogenic
Select item 1342252	NM_000459.5(TEK):c.3062+38dup	TEK	Duplication (intron variant)	Glaucoma 3, primary congenital, E +1 more	GBenign
Select item 1342243	NM_000459.5(TEK):c.2796C>T (p.Thr932=)	TEK	Single nucleotide variant (synonymous variant)	Multiple cutaneous and mucosal venous malformations +1 more	GBenign
Select item 1333692	NM_000459.5(TEK):c.32G>A (p.Gly11Glu)	TEK (G11E)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, E	GUncertain significance
Select item 1333535	NM_000459.5(TEK):c.3263T>C (p.Ile1088Thr)	TEK (I1044T +4 more)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, E	GUncertain significance
Select item 1333491	NM_000459.5(TEK):c.154dup (p.His52fs)	TEK (H52fs)	Duplication (frameshift variant +1 more)	Glaucoma 3, primary congenital, E	GLikely pathogenic
Select item 1333465	NM_000459.5(TEK):c.3251C>G (p.Ser1084Ter)	TEK (S1040* +4 more)	Single nucleotide variant (nonsense)	Glaucoma 3, primary congenital, E	GLikely pathogenic
Select item 1333408	NM_000459.5(TEK):c.470_471insTGGT (p.Lys157fs)	TEK (K157fs +1 more)	Insertion (frameshift variant)	Glaucoma 3, primary congenital, E	GLikely pathogenic
Select item 1333386	NM_000459.5(TEK):c.857G>T (p.Gly286Val)	TEK (G182V +1 more)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, E	GUncertain significance
Select item 1333305	NM_000459.5(TEK):c.1490-1G>A	TEK	Single nucleotide variant (splice acceptor variant)	Glaucoma 3, primary congenital, E	GLikely pathogenic
Select item 1284626	NM_000459.5(TEK):c.1037A>C (p.Gln346Pro)	TEK (Q303P +2 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations +2 more	GBenign
Select item 1284051	NM_000459.5(TEK):c.3063-49C>T	TEK	Single nucleotide variant (intron variant)	Multiple cutaneous and mucosal venous malformations +2 more	GBenign
Select item 1239437	NM_000459.5(TEK):c.761-40C>T	TEK	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 931734	NM_000459.5(TEK):c.922G>A (p.Gly308Arg)	TEK (G308R)	Single nucleotide variant (missense variant +1 more)	Glaucoma 3, primary congenital, E	GUncertain significance
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 804257	NM_000459.5(TEK):c.578A>G (p.Tyr193Cys)	TEK (Y193C +1 more)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, E	GLikely pathogenic
Select item 518397	NM_000459.5(TEK):c.2209+17A>G	TEK	Single nucleotide variant (intron variant)	Multiple cutaneous and mucosal venous malformations +2 more	GBenign
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 374839	NM_000459.5(TEK):c.448G>T (p.Glu150Ter)	TEK (E150* +1 more)	Single nucleotide variant (nonsense)	Glaucoma 3, primary congenital, E	GPathogenic
Select item 374838	NM_000459.5(TEK):c.921C>A (p.Tyr307Ter)	TEK (Y307*)	Single nucleotide variant (nonsense +1 more)	Glaucoma 3, primary congenital, E	GPathogenic
Select item 366434	NM_000459.5(TEK):c.1962A>G (p.Ser654=)	TEK	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign

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Links from MedGen

Items: 27