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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPGRIP1
(K192E)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 13
+3 more
GBenign
RPGRIP1
Microsatellite
(intron variant)
Cone-rod dystrophy 13
+3 more
GBenign
RPGRIP1
(A547S +2 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 1
+4 more
GBenign/Likely benign
RPGRIP1
(E1033Q +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
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