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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGFBI
(N544S)
Single nucleotide variant
(missense variant)
Corneal dystrophy, lattice type 3A
+2 more
GUncertain significance
TGFBI
(F540S)
Single nucleotide variant
(missense variant)
Corneal dystrophy, lattice type 3A
GPathogenic
TGFBI
(P501T)
Single nucleotide variant
(missense variant)
Corneal dystrophy
+2 more
GConflicting classifications of pathogenicity
TGFBI
(R555W)
Single nucleotide variant
(missense variant)
Groenouw corneal dystrophy type I
+7 more
GPathogenic
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