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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806913, OPA1
Single nucleotide variant
(synonymous variant)
Autosomal dominant optic atrophy classic form
+3 more
GBenign
LOC126806913, OPA1
(S600R +8 more)
Single nucleotide variant
(missense variant)
OPA1-related disorder
+1 more
GPathogenic