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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFT88
(N150fs +6 more)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
IFT88
(A247V +7 more)
Single nucleotide variant
(missense variant +1 more)
Rod-cone dystrophy
GUncertain significance