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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LRP2
(D3245Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRP2
(R1578P)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GLikely pathogenic