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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BEST1
(E35D)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive bestrophinopathy
GUncertain significance
ATAD3A
Deletion
(inframe_deletion)
Harel-Yoon syndrome
GUncertain significance