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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRB1
(R764C +2 more)
Single nucleotide variant
(missense variant +2 more)
Retinal dystrophy
+8 more
GPathogenic/Likely pathogenic
CRB1
(L695R +2 more)
Single nucleotide variant
(missense variant +2 more)
Retinitis pigmentosa 12
GLikely pathogenic
CRB1
(F735S +2 more)
Single nucleotide variant
(missense variant +2 more)
Leber congenital amaurosis 8
GLikely pathogenic
CRB1
(L1050S +2 more)
Single nucleotide variant
(missense variant +2 more)
Retinitis pigmentosa 12
+1 more
GPathogenic
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