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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPGR
(E802fs)
Microsatellite
(frameshift variant +1 more)
Retinal dystrophy
+8 more
GPathogenic/Likely pathogenic
RPGR
(Q717*)
Single nucleotide variant
(nonsense +1 more)
X-linked cone-rod dystrophy 1
+1 more
GPathogenic