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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LCA5
(P493fs)
Duplication
(frameshift variant)
Leber congenital amaurosis 5
GPathogenic
LCA5
(P384fs)
Deletion
(frameshift variant)
Leber congenital amaurosis
+2 more
GPathogenic
LCA5
(Q279*)
Single nucleotide variant
(nonsense)
Leber congenital amaurosis 5
+3 more
GPathogenic
LCA5, LOC129996749
+1 more
Deletion
Leber congenital amaurosis 5
GPathogenic
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