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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP4V2
(Y40*)
Single nucleotide variant
(nonsense)
Bietti crystalline corneoretinal dystrophy
GPathogenic
CYP4V2
Deletion
(nonsense)
Bietti crystalline corneoretinal dystrophy
GPathogenic