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Links from MedGen

Items: 1 to 100 of 526

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OPA3
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
Single nucleotide variant
(intron variant)
Optic atrophy 3
+1 more
GLikely benign
OPA3
Single nucleotide variant
(synonymous variant +1 more)
Optic atrophy 3
+1 more
GLikely benign
OPA3
(Q162E)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
OPA3
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
LOC130064709, OPA3
Single nucleotide variant
(synonymous variant)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
Single nucleotide variant
(intron variant)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
Duplication
(intron variant)
3-Methylglutaconic aciduria type 3
+1 more
GBenign
OPA3
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
Single nucleotide variant
(synonymous variant)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
LOC130064709, OPA3
(V3L)
Single nucleotide variant
(missense variant)
OPA3-related condition
+2 more
GUncertain significance
OPA3
Single nucleotide variant
(intron variant)
Optic atrophy 3
+1 more
GLikely benign
OPA3
Single nucleotide variant
(synonymous variant +1 more)
Optic atrophy 3
+1 more
GLikely benign
OPA3
Single nucleotide variant
(synonymous variant)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
LOC130064709, OPA3
Single nucleotide variant
(synonymous variant)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
(R123P)
Indel
(missense variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
OPA3
Single nucleotide variant
(intron variant)
Optic atrophy 3
+1 more
GLikely benign
OPA3
(A76S)
Single nucleotide variant
(missense variant +1 more)
Optic atrophy 3
+1 more
GUncertain significance
OPA3
Single nucleotide variant
(synonymous variant +1 more)
Optic atrophy 3
+1 more
GLikely benign
LOC130064709, OPA3
Single nucleotide variant
(synonymous variant)
Optic atrophy 3
+1 more
GLikely benign
OPA3
Single nucleotide variant
(synonymous variant +1 more)
Optic atrophy 3
+1 more
GLikely benign
OPA3
Single nucleotide variant
(intron variant)
Optic atrophy 3
+1 more
GLikely benign
OPA3
Single nucleotide variant
(intron variant)
Optic atrophy 3
+1 more
GLikely benign
OPA3
(E74K)
Single nucleotide variant
(missense variant +1 more)
Optic atrophy 3
+1 more
GUncertain significance
OPA3
Single nucleotide variant
(synonymous variant +1 more)
Optic atrophy 3
+1 more
GLikely benign
OPA3
Single nucleotide variant
(synonymous variant +1 more)
Optic atrophy 3
+1 more
GLikely benign
OPA3
Single nucleotide variant
(synonymous variant +1 more)
Optic atrophy 3
+1 more
GLikely benign
OPA3
Single nucleotide variant
(synonymous variant)
Optic atrophy 3
+1 more
GLikely benign
OPA3
(V92A)
Single nucleotide variant
(missense variant +1 more)
Optic atrophy 3
+1 more
GUncertain significance
OPA3
Single nucleotide variant
(synonymous variant +1 more)
Optic atrophy 3
+1 more
GLikely benign
OPA3
Single nucleotide variant
(intron variant)
Optic atrophy 3
+1 more
GLikely benign
OPA3
Microsatellite
(intron variant)
Optic atrophy 3
+1 more
GLikely benign
OPA3
Single nucleotide variant
(synonymous variant +1 more)
Optic atrophy 3
+1 more
GLikely benign
OPA3
Single nucleotide variant
(intron variant)
Optic atrophy 3
+1 more
GLikely benign
OPA3
(A106T)
Single nucleotide variant
(intron variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
OPA3
Single nucleotide variant
(synonymous variant)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
Single nucleotide variant
(intron variant)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
Deletion
(splice donor variant)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
OPA3
(E86K)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
LOC130064709, OPA3
(M8T)
Single nucleotide variant
(missense variant)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
OPA3
Single nucleotide variant
(intron variant)
Optic atrophy 3
+1 more
GLikely benign
OPA3
(A121V)
Single nucleotide variant
(missense variant +1 more)
Optic atrophy 3
+1 more
GUncertain significance
OPA3
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
LOC130064709, OPA3
Single nucleotide variant
(synonymous variant)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
(A132V)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
OPA3
(A143P)
Single nucleotide variant
(missense variant +1 more)
Optic atrophy 3
+1 more
GUncertain significance
OPA3
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
Single nucleotide variant
(intron variant)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
(K57R)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
OPA3
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
(G147fs)
Deletion
(frameshift variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
OPA3, LOC130064709
(I16fs)
Deletion
(frameshift variant)
3-Methylglutaconic aciduria type 3
GLikely pathogenic
OPA3
(C96fs)
Deletion
(frameshift variant +1 more)
3-Methylglutaconic aciduria type 3
GLikely pathogenic
OPA3
(A77fs)
Duplication
(frameshift variant +1 more)
3-Methylglutaconic aciduria type 3
GLikely pathogenic
OPA3
(R33*)
Single nucleotide variant
(nonsense)
3-Methylglutaconic aciduria type 3
GLikely pathogenic
OPA3
(Q105*)
Single nucleotide variant
(intron variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GConflicting classifications of pathogenicity
OPA3
(E73*)
Single nucleotide variant
(nonsense +1 more)
3-Methylglutaconic aciduria type 3
GLikely pathogenic
LOC130064709, OPA3
(L14V)
Single nucleotide variant
(missense variant)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
OPA3
(R153L)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
OPA3
(P145S)
Single nucleotide variant
(missense variant +1 more)
Optic atrophy 3
+2 more
GUncertain significance
OPA3
Indel
(missense variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
LOC130064709, OPA3
(L12V)
Single nucleotide variant
(missense variant)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
OPA3
(L97V)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
OPA3
(T39A)
Single nucleotide variant
(missense variant)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
OPA3
(W51*)
Single nucleotide variant
(nonsense +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GLikely pathogenic
OPA3
(Q146R)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 3
+2 more
GUncertain significance
LOC130064709, OPA3
(M8I)
Single nucleotide variant
(missense variant)
3-Methylglutaconic aciduria type 3
+2 more
GUncertain significance
OPA3
Single nucleotide variant
(intron variant)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
(A118P)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
OPA3
(Q139H)
Single nucleotide variant
(missense variant +1 more)
Optic atrophy 3
+1 more
GUncertain significance
OPA3
(E74*)
Single nucleotide variant
(nonsense +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
OPA3
(I41V)
Single nucleotide variant
(missense variant)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
OPA3
Single nucleotide variant
(intron variant)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
(E113K)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
OPA3
(E150Q)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
OPA3
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
LOC130064709, OPA3
Single nucleotide variant
(synonymous variant)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
(P145L)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
OPA3
(N120K)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
OPA3
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
(E35*)
Single nucleotide variant
(nonsense)
3-Methylglutaconic aciduria type 3
+1 more
GPathogenic
OPA3
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
(E125Q)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
OPA3
Single nucleotide variant
(synonymous variant)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
Single nucleotide variant
(synonymous variant)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
(G127D)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
LOC130064709, OPA3
Single nucleotide variant
(synonymous variant)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
(A30V)
Single nucleotide variant
(missense variant)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
OPA3
(A46T)
Single nucleotide variant
(missense variant)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
OPA3
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GLikely benign
OPA3
(Q162*)
Single nucleotide variant
(nonsense +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
OPA3
(W102G)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
OPA3
(L152P)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 3
+1 more
GUncertain significance
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