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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OPA1-AS1, OPA1
(R247H +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
OPA1
(L298* +8 more)
Single nucleotide variant
(nonsense)
Autosomal dominant optic atrophy classic form
Gnot provided
OPA1
(K383R +8 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
OPA1
Single nucleotide variant
(splice donor variant)
Autosomal dominant optic atrophy classic form
Gnot provided
OPA1
(A321fs +9 more)
Duplication
(frameshift variant)
Autosomal dominant optic atrophy classic form
Gnot provided
OPA1
(G456D +8 more)
Single nucleotide variant
(missense variant)
Autosomal dominant optic atrophy classic form
Gnot provided
OPA1
(Q492R +8 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
OPA1
(R500H +8 more)
Single nucleotide variant
(missense variant)
OPA1-Related Disorders
+2 more
GPathogenic
OPA1
Deletion
(splice acceptor variant)
OPA1-related condition
+8 more
GPathogenic/Likely pathogenic
OPA1
(R819fs +9 more)
Deletion
(frameshift variant)
Autosomal dominant optic atrophy classic form
GPathogenic
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