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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OPA3
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 3
+3 more
GBenign/Likely benign
OPA3
(R160C)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 3
+3 more
GConflicting classifications of pathogenicity
OPA3
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
OPA3
(A138T)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GBenign/Likely benign
OPA3
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign
LOC130064709, OPA3
Single nucleotide variant
(synonymous variant)
Optic atrophy 3
+2 more
GConflicting classifications of pathogenicity
LOC130064709, OPA3
Single nucleotide variant
(5 prime UTR variant)
Optic atrophy 3
+2 more
GBenign/Likely benign
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