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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LTBP2
(M1567V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LTBP2
Single nucleotide variant
(intron variant)
Weill-Marchesani syndrome
+2 more
GConflicting classifications of pathogenicity
LTBP2
(I667L)
Single nucleotide variant
(missense variant)
Pseudoexfoliation glaucoma
GLikely pathogenic
LTBP2
(P432L)
Single nucleotide variant
(missense variant)
Glaucoma 3, primary congenital, D
+4 more
GConflicting classifications of pathogenicity
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