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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BLOC1S1-RDH5, RDH5
(G64R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
(W95*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic