U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 1 to 100 of 180

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OPA1
(T257A +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OPA1
(S475N +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OPA1
Deletion
not provided
GLikely pathogenic
OPA1
Duplication
not provided
GLikely pathogenic
OPA1
Deletion
not provided
GPathogenic
OPA1
Deletion
not provided
GPathogenic
LOC126806913, OPA1
Single nucleotide variant
(splice donor variant)
Autosomal dominant optic atrophy classic form
GPathogenic
OPA1, OPA1-AS1
(R158G +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
OPA1, OPA1-AS1
(R194G +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC126806913, OPA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OPA1, OPA1-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OPA1, OPA1-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OPA1, OPA1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
OPA1, OPA1-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
OPA1, OPA1-AS1
(T36A +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
OPA1, OPA1-AS1
(Q234P +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
OPA1, OPA1-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OPA1, OPA1-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC126806913, OPA1
(Q414R +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OPA1, OPA1-AS1
(A204P +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC126806913, OPA1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
OPA1, OPA1-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
OPA1
(I383fs +9 more)
Duplication
(frameshift variant)
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
+1 more
GLikely pathogenic
OPA1, OPA1-AS1
(Q224* +4 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
OPA1, OPA1-AS1
(Q182* +4 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
OPA1, OPA1-AS1
(S238R +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
OPA1, OPA1-AS1
(G173C +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
OPA1
(L178fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
OPA1
(W2*)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely pathogenic
OPA1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
OPA1
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
OPA1
(C750* +9 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
OPA1
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
OPA1
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
OPA1, OPA1-AS1
(R194K +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
OPA1
(W122R)
Single nucleotide variant
(missense variant +1 more)
OPA1-related optic atrophy with or without extraocular features
GUncertain significance
OPA1
(Q760R +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OPA1, OPA1-AS1
(Q186E +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
OPA1, OPA1-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC126806913, OPA1
(R539Q +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806913, OPA1
(A584E +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OPA1, OPA1-AS1
(Q184del +4 more)
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
OPA1, OPA1-AS1
(R74H +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
OPA1, OPA1-AS1
(T237M +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
OPA1, OPA1-AS1
(T219K +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
LOC126806913, OPA1
(A424V +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OPA1, OPA1-AS1
(L192V +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
OPA1, OPA1-AS1
(G191D +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
LOC126806913, OPA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126806913, OPA1
(V424fs +9 more)
Insertion
(frameshift variant)
not provided
GPathogenic
OPA1, OPA1-AS1
(Q204* +4 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
OPA1, OPA1-AS1
(G150A +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
OPA1, OPA1-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OPA1, OPA1-AS1
(Q186K +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
OPA1, OPA1-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126806913, OPA1
(M533V +9 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
OPA1, OPA1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
OPA1, OPA1-AS1
(Q236R +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
LOC126806913, OPA1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
OPA1, OPA1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
OPA1, OPA1-AS1
(E207K +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
OPA1, OPA1-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OPA1, OPA1-AS1
Microsatellite
(intron variant)
not provided
GLikely benign
OPA1, OPA1-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OPA1, OPA1-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
OPA1, OPA1-AS1
(F193S +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
OPA1, OPA1-AS1
(K243E +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
LOC126806913, OPA1
(S409G +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OPA1, OPA1-AS1
Deletion
(intron variant)
not provided
GLikely benign
OPA1, OPA1-AS1
(R194S +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
OPA1, OPA1-AS1
(I203T +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
LOC126806913, OPA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126806913, OPA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OPA1, OPA1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
LOC126806913, OPA1
(Q438* +9 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
OPA1
(E698fs +9 more)
Deletion
(frameshift variant)
not provided
GPathogenic
OPA1
(M561L +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OPA1
(Q535* +9 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
OPA1, OPA1-AS1
(R193C +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC126806913, OPA1
(V432G +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806913, OPA1
(M409L +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806913, OPA1
(Q439* +9 more)
Single nucleotide variant
(nonsense)
Autosomal dominant optic atrophy classic form
GLikely pathogenic
OPA1-AS1, OPA1
(E187G +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
OPA1, OPA1-AS1
(A156fs +5 more)
Indel
(non-coding transcript variant +1 more)
not provided
GPathogenic
OPA1, OPA1-AS1
(D167N +5 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
OPA1, OPA1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC126806913, OPA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126806913, OPA1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
OPA1, OPA1-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
OPA1, OPA1-AS1
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
OPA1, OPA1-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126806913, OPA1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OPA1, OPA1-AS1
(R208L +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
OPA1, OPA1-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
OPA1, OPA1-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
OPA1, OPA1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
LOC126806913, OPA1
Deletion
(intron variant)
not provided
GLikely benign
OPA1, OPA1-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OPA1, OPA1-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OPA1, OPA1-AS1
(K204R +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination