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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPGRIP1
(E370fs)
Deletion
(frameshift variant)
Cone-rod dystrophy 13
+2 more
GPathogenic
RPGRIP1
(K540E +1 more)
Single nucleotide variant
(missense variant +1 more)
Cone-rod dystrophy 13
+1 more
GUncertain significance