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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPGR
(E1031fs)
Deletion
(frameshift variant +1 more)
Primary ciliary dyskinesia
+5 more
GPathogenic
RPGR
(E802fs)
Microsatellite
(frameshift variant +1 more)
Retinal dystrophy
+8 more
GPathogenic/Likely pathogenic
RPGR
(E543* +2 more)
Single nucleotide variant
(nonsense +2 more)
Retinitis pigmentosa 3
GLikely pathogenic
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