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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BLOC1S1-RDH5, CD63
+1 more
(G238W)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
BLOC1S1-RDH5, CD63
+1 more
(R280H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Pigmentary retinal dystrophy
+2 more
GPathogenic/Likely pathogenic