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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RD3
(E46fs)
Deletion
(frameshift variant)
Leber congenital amaurosis 12
GPathogenic
RD3
(R38*)
Single nucleotide variant
(nonsense)
Abnormality of the eye
+2 more
GPathogenic