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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP290, RLIG1
(K2447T)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GUncertain significance
RLIG1, CEP290
(L2441fs)
Microsatellite
(frameshift variant +1 more)
Retinal dystrophy
GPathogenic
CEP290, RLIG1
Single nucleotide variant
(synonymous variant +1 more)
Retinal dystrophy
GUncertain significance
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