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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130068202, RP2
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic/Likely pathogenic
RP2
(R118C)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GPathogenic