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Links from MedGen

Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OPA1
(K800fs +9 more)
Deletion
(frameshift variant)
Abortive cerebellar ataxia
GLikely pathogenic
OPA1
Deletion
(splice donor variant)
Abortive cerebellar ataxia
+1 more
GPathogenic/Likely pathogenic
OPA1
(I108M +9 more)
Single nucleotide variant
(missense variant)
Abortive cerebellar ataxia
GUncertain significance
OPA1
(S584fs +9 more)
Deletion
(frameshift variant)
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
+4 more
GPathogenic
OPA1
(D884G +9 more)
Single nucleotide variant
(missense variant)
Abortive cerebellar ataxia
GLikely benign
LOC126806913, OPA1
(S549L +9 more)
Single nucleotide variant
(missense variant)
Abortive cerebellar ataxia
GUncertain significance
OPA1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OPA1
(W651* +9 more)
Single nucleotide variant
(nonsense)
Abortive cerebellar ataxia
GLikely pathogenic
OPA1
(Y82C)
Single nucleotide variant
(5 prime UTR variant +1 more)
Abortive cerebellar ataxia
+1 more
GConflicting classifications of pathogenicity
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, OPA1-AS1
(S200F +5 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
LOC126806913, OPA1
Single nucleotide variant
(splice donor variant)
Abortive cerebellar ataxia
GPathogenic
OPA1
(V402M +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OPA1
(R824* +9 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
OPA1
Deletion
(inframe_deletion +1 more)
Abortive cerebellar ataxia
+12 more
GConflicting classifications of pathogenicity
OPA1
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
OPA1
(Q15K)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+5 more
GBenign
OPA1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+5 more
GBenign
OPA1
Single nucleotide variant
(synonymous variant)
Autosomal dominant optic atrophy classic form
+5 more
GBenign
OPA1
(I437M +8 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
OPA1
Deletion
(splice acceptor variant)
Optic nerve dysplasia
+8 more
GPathogenic/Likely pathogenic
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