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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BEST1
(F276L +2 more)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
GUncertain significance
BEST1
(Y284C +2 more)
Single nucleotide variant
(missense variant +2 more)
Stargardt disease
+2 more
GPathogenic/Likely pathogenic