"Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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