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Links from MedGen

Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TEK
Single nucleotide variant
(splice donor variant)
Glaucoma 3, primary congenital, E
GLikely pathogenic
TEK
(K145fs +1 more)
Deletion
(frameshift variant)
Glaucoma 3, primary congenital, E
GLikely pathogenic
TEK
(K688E +2 more)
Single nucleotide variant
(missense variant)
Glaucoma 3, primary congenital, E
GUncertain significance
TEK
(Y1011* +4 more)
Single nucleotide variant
(nonsense)
Glaucoma 3, primary congenital, E
GLikely pathogenic
TEK
Duplication
(intron variant)
Multiple cutaneous and mucosal venous malformations
+1 more
GBenign
TEK
Single nucleotide variant
(synonymous variant)
Glaucoma 3, primary congenital, E
+1 more
GBenign
TEK
(G11E)
Single nucleotide variant
(missense variant)
Glaucoma 3, primary congenital, E
GUncertain significance
TEK
(I1044T +4 more)
Single nucleotide variant
(missense variant)
Glaucoma 3, primary congenital, E
GUncertain significance
TEK
(H52fs)
Duplication
(frameshift variant +1 more)
Glaucoma 3, primary congenital, E
GLikely pathogenic
TEK
(S1040* +4 more)
Single nucleotide variant
(nonsense)
Glaucoma 3, primary congenital, E
GLikely pathogenic
TEK
(K157fs +1 more)
Insertion
(frameshift variant)
Glaucoma 3, primary congenital, E
GLikely pathogenic
TEK
(G182V +1 more)
Single nucleotide variant
(missense variant)
Glaucoma 3, primary congenital, E
GUncertain significance
TEK
Single nucleotide variant
(splice acceptor variant)
Glaucoma 3, primary congenital, E
GLikely pathogenic
TEK
(Q303P +2 more)
Single nucleotide variant
(missense variant)
Glaucoma 3, primary congenital, E
+2 more
GBenign
TEK
Single nucleotide variant
(intron variant)
Glaucoma 3, primary congenital, E
+2 more
GBenign
TEK
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
TEK
(G308R)
Single nucleotide variant
(missense variant +1 more)
Glaucoma 3, primary congenital, E
GUncertain significance
TEK
(A777T +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TEK
(Y193C +1 more)
Single nucleotide variant
(missense variant)
Glaucoma 3, primary congenital, E
GLikely pathogenic
TEK
Single nucleotide variant
(intron variant)
Multiple cutaneous and mucosal venous malformations
+2 more
GBenign
TEK
(E150* +1 more)
Single nucleotide variant
(nonsense)
Glaucoma 3, primary congenital, E
GPathogenic
TEK
(Y307*)
Single nucleotide variant
(nonsense +1 more)
Glaucoma 3, primary congenital, E
GPathogenic
TEK
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
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