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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BLOC1S1-RDH5, CD63
+1 more
(G238W)
Single nucleotide variant
(non-coding transcript variant +1 more)
RDH5-related condition
+4 more
GPathogenic/Likely pathogenic
CD63, RDH5
+1 more
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
BLOC1S1-RDH5, CD63
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GConflicting classifications of pathogenicity
CD63, RDH5
+1 more
(L272fs)
Deletion
(non-coding transcript variant +1 more)
not provided
GPathogenic
BLOC1S1-RDH5, CD63
+1 more
(R280H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
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