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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TOPORS
(E787fs +1 more)
Microsatellite
(frameshift variant)
Retinitis pigmentosa
+3 more
GPathogenic/Likely pathogenic
TOPORS
(T842fs +1 more)
Duplication
(frameshift variant)
Retinal dystrophy
GLikely pathogenic