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Links from MedGen

Items: 1 to 100 of 187

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OPA1
(N727fs +9 more)
Duplication
(frameshift variant)
Autosomal dominant optic atrophy classic form
GPathogenic
LOC126806913, OPA1
Single nucleotide variant
(splice donor variant)
Autosomal dominant optic atrophy classic form
GPathogenic
OPA1
(I383fs +9 more)
Duplication
(frameshift variant)
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
+1 more
GLikely pathogenic
OPA1
Deletion
(nonsense +1 more)
Autosomal dominant optic atrophy classic form
GPathogenic
OPA1
(V271M +9 more)
Single nucleotide variant
(missense variant)
Autosomal dominant optic atrophy classic form
GLikely pathogenic
OPA1
Single nucleotide variant
(splice donor variant)
Autosomal dominant optic atrophy classic form
GLikely pathogenic
TMEM44, ATP13A3
+7 more
Copy number loss
Autosomal dominant optic atrophy classic form
GLikely pathogenic
OPA1
(E778* +9 more)
Single nucleotide variant
(nonsense)
Autosomal dominant optic atrophy classic form
+1 more
GPathogenic
OPA1
(R761H +9 more)
Single nucleotide variant
(missense variant)
Autosomal dominant optic atrophy classic form
+1 more
GUncertain significance
OPA1
(R276* +9 more)
Single nucleotide variant
(nonsense)
Autosomal dominant optic atrophy classic form
+1 more
GPathogenic
OPA1
(W758fs +9 more)
Deletion
(frameshift variant)
Autosomal dominant optic atrophy classic form
GLikely pathogenic
OPA1
Single nucleotide variant
(intron variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
(R192G +9 more)
Single nucleotide variant
(missense variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
(Y738* +9 more)
Duplication
(nonsense)
Autosomal dominant optic atrophy classic form
GPathogenic
OPA1
(E451V +9 more)
Single nucleotide variant
(missense variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
(I24fs)
Duplication
(5 prime UTR variant +1 more)
Autosomal dominant optic atrophy classic form
GPathogenic
OPA1
(S39fs)
Insertion
(5 prime UTR variant +1 more)
Autosomal dominant optic atrophy classic form
GLikely pathogenic
OPA1
(Y146C +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant optic atrophy classic form
+1 more
GUncertain significance
OPA1
(E115* +9 more)
Single nucleotide variant
(nonsense)
Autosomal dominant optic atrophy classic form
GLikely pathogenic
OPA1
(S179N +9 more)
Single nucleotide variant
(missense variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
(E820* +9 more)
Single nucleotide variant
(nonsense)
Autosomal dominant optic atrophy classic form
GUncertain significance
LOC126806913, OPA1
(Q439* +9 more)
Single nucleotide variant
(nonsense)
Autosomal dominant optic atrophy classic form
GLikely pathogenic
OPA1
Indel
(splice donor variant)
Autosomal dominant optic atrophy classic form
GPathogenic
OPA1
Single nucleotide variant
(splice donor variant)
Autosomal dominant optic atrophy classic form
GPathogenic
OPA1
(Y717fs +9 more)
Deletion
(frameshift variant)
Autosomal dominant optic atrophy classic form
GPathogenic
OPA1
(F119fs)
Deletion
(5 prime UTR variant +1 more)
Autosomal dominant optic atrophy classic form
GPathogenic
OPA1
(R101C)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal dominant optic atrophy classic form
+1 more
GConflicting classifications of pathogenicity
OPA1
(K586* +9 more)
Single nucleotide variant
(nonsense)
Autosomal dominant optic atrophy classic form
GPathogenic
OPA1
(Q535fs +9 more)
Deletion
(frameshift variant)
Autosomal dominant optic atrophy classic form
GLikely pathogenic
OPA1
(K817T +9 more)
Single nucleotide variant
(missense variant)
Autosomal dominant optic atrophy classic form
GLikely pathogenic
OPA1
(E451fs +9 more)
Deletion
(frameshift variant)
Autosomal dominant optic atrophy classic form
GLikely pathogenic
OPA1
(N116K +9 more)
Single nucleotide variant
(missense variant)
Autosomal dominant optic atrophy classic form
GLikely pathogenic
OPA1
(L55fs)
Duplication
(5 prime UTR variant +1 more)
Autosomal dominant optic atrophy classic form
GLikely pathogenic
OPA1
Deletion
(inframe_deletion)
not provided
+3 more
GUncertain significance
OPA1
Single nucleotide variant
(intron variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
(L122* +9 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
OPA1
(Q400fs +9 more)
Duplication
(frameshift variant)
Autosomal dominant optic atrophy classic form
GPathogenic
OPA1
(S584fs +9 more)
Deletion
(frameshift variant)
OPA1-related disorder
+4 more
GPathogenic
OPA1
Single nucleotide variant
(splice donor variant)
Autosomal dominant optic atrophy classic form
+1 more
GPathogenic/Likely pathogenic
OPA1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
(V476I +9 more)
Single nucleotide variant
(missense variant)
Autosomal dominant optic atrophy classic form
+1 more
GConflicting classifications of pathogenicity
OPA1
(G250D +9 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OPA1
Single nucleotide variant
(5 prime UTR variant)
OPA1-related disorder
+1 more
GUncertain significance
OPA1
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
Single nucleotide variant
Autosomal dominant optic atrophy classic form
GBenign
OPA1
Single nucleotide variant
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant optic atrophy classic form
GBenign
OPA1
(A933T +9 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OPA1
(V256I +9 more)
Single nucleotide variant
(missense variant)
Autosomal dominant optic atrophy classic form
+1 more
GUncertain significance
OPA1
(Y229C +9 more)
Single nucleotide variant
(missense variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1, OPA1-AS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
OPA1, OPA1-AS1
(P206L +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
OPA1
Single nucleotide variant
(splice donor variant +1 more)
Autosomal dominant optic atrophy classic form
+1 more
GConflicting classifications of pathogenicity
OPA1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
(N826S +9 more)
Single nucleotide variant
(missense variant)
OPA1-related disorder
+3 more
GConflicting classifications of pathogenicity
LOC126806913, OPA1
Single nucleotide variant
(synonymous variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
Single nucleotide variant
(intron variant)
OPA1-related disorder
+2 more
GPathogenic/Likely pathogenic
OPA1
(R38*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal dominant optic atrophy classic form
+2 more
GPathogenic/Likely pathogenic
OPA1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OPA1
(F593fs +9 more)
Deletion
(frameshift variant)
Autosomal dominant optic atrophy classic form
GPathogenic
OPA1
(T326R +9 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
OPA1
(N412I +9 more)
Single nucleotide variant
(missense variant)
Autosomal dominant optic atrophy classic form
GLikely pathogenic
OPA1
(C252G +9 more)
Single nucleotide variant
(missense variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
(D278H +9 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
+1 more
GPathogenic/Likely pathogenic
OPA1
(Y80C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+2 more
GBenign/Likely benign
OPA1
(T284M +9 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OPA1
Single nucleotide variant
(intron variant)
Autosomal dominant optic atrophy classic form
+2 more
GBenign/Likely benign
OPA1
(V291L +9 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
OPA1
(R818W +9 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
OPA1
(R755H +9 more)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
+6 more
GUncertain significance
OPA1
Single nucleotide variant
(intron variant)
Autosomal dominant optic atrophy classic form
+1 more
GPathogenic/Likely pathogenic
OPA1
(V933I +9 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
OPA1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
OPA1
Single nucleotide variant
(synonymous variant)
OPA1-related disorder
+2 more
GConflicting classifications of pathogenicity
OPA1
(R366Q +9 more)
Single nucleotide variant
(missense variant)
Autosomal dominant optic atrophy classic form
+1 more
GConflicting classifications of pathogenicity
OPA1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
OPA1
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GConflicting classifications of pathogenicity
OPA1
Single nucleotide variant
(intron variant)
Autosomal dominant optic atrophy classic form
+1 more
GLikely pathogenic
OPA1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant optic atrophy classic form
GBenign
OPA1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant optic atrophy classic form
GBenign
OPA1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant optic atrophy classic form
GBenign
OPA1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
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