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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP290
(D433G)
Single nucleotide variant
(missense variant)
not specified
+9 more
GConflicting classifications of pathogenicity
CEP290
(M407fs)
Microsatellite
(frameshift variant)
Retinal dystrophy
+10 more
GPathogenic
CEP290
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa
+9 more
GPathogenic/Likely pathogenic
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