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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OPA1
(Y738* +9 more)
Duplication
(nonsense)
Autosomal dominant optic atrophy classic form
GPathogenic
OPA1
(E820* +9 more)
Single nucleotide variant
(nonsense)
Autosomal dominant optic atrophy classic form
GUncertain significance