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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LTBP2
(G1660W)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
LTBP2
Single nucleotide variant
(splice donor variant)
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
GLikely pathogenic
LTBP2
(E1134K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ABCD4, ACOT2
+38 more
Copy number loss
not provided
GLikely pathogenic
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