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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RCBTB1
Single nucleotide variant
(splice donor variant)
Exudative retinopathy
+1 more
GLikely pathogenic
RCBTB1
(N236fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic