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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BEST1
(A243T +2 more)
Single nucleotide variant
(missense variant +2 more)
Retinal dystrophy
+1 more
GPathogenic
BEST1
(S583L +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign