U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OPA1
(R345Q +8 more)
Single nucleotide variant
(missense variant)
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
+2 more
GPathogenic/Likely pathogenic
OPA1
Indel
(splice donor variant)
Autosomal dominant optic atrophy classic form
GPathogenic