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Links from MedGen

Items: 49

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACO2
(G190D)
Single nucleotide variant
(missense variant)
Infantile cerebellar-retinal degeneration
GLikely pathogenic
POLR3H, ACO2
(A647G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Infantile cerebellar-retinal degeneration
GUncertain significance
ACO2, POLR3H
Copy number loss
Infantile cerebellar-retinal degeneration
GLikely pathogenic
ACO2
(S35T)
Single nucleotide variant
(missense variant)
Infantile cerebellar-retinal degeneration
GUncertain significance
ACO2
(Q99R)
Single nucleotide variant
(missense variant)
Infantile cerebellar-retinal degeneration
GUncertain significance
ACO2
(P418L)
Single nucleotide variant
(missense variant)
Infantile cerebellar-retinal degeneration
GUncertain significance
ACO2
Single nucleotide variant
(intron variant)
Infantile cerebellar-retinal degeneration
GPathogenic
ACO2, POLR3H
(C592*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Infantile cerebellar-retinal degeneration
GPathogenic
ACO2
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
ACO2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GUncertain significance
ACO2
(V163M)
Single nucleotide variant
(missense variant)
Infantile cerebellar-retinal degeneration
GUncertain significance
ACO2
Single nucleotide variant
(intron variant)
Optic atrophy 9
+2 more
GBenign
ACO2
Single nucleotide variant
(intron variant)
Optic atrophy 9
+2 more
GBenign
ACO2
Single nucleotide variant
(intron variant)
Optic atrophy 9
+2 more
GBenign
ACO2, LOC130067544
(Q563E)
Single nucleotide variant
(missense variant)
Infantile cerebellar-retinal degeneration
GLikely pathogenic
ACO2
(K309N)
Single nucleotide variant
(missense variant)
Infantile cerebellar-retinal degeneration
GLikely pathogenic
ACO2
(E289Q)
Single nucleotide variant
(missense variant)
Infantile cerebellar-retinal degeneration
GLikely pathogenic
ACO2
Single nucleotide variant
(missense variant)
Infantile cerebellar-retinal degeneration
GPathogenic
ACO2, POLR3H
(A768T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Infantile cerebellar-retinal degeneration
GUncertain significance
ACO2
(L582V)
Single nucleotide variant
(missense variant)
Infantile cerebellar-retinal degeneration
GUncertain significance
ACO2
Inversion
(splice acceptor variant)
Infantile cerebellar-retinal degeneration
GPathogenic
ACO2, POLR3H
(H596R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Infantile cerebellar-retinal degeneration
GPathogenic
ACO2
(F414V)
Single nucleotide variant
(missense variant)
Infantile cerebellar-retinal degeneration
GPathogenic
ACO2
(I82T)
Single nucleotide variant
(missense variant)
Infantile cerebellar-retinal degeneration
+1 more
GUncertain significance
ACO2, POLR3H
(R648C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Infantile cerebellar-retinal degeneration
+1 more
GUncertain significance
POLR3H, ACO2
(R656fs)
Deletion
(3 prime UTR variant +1 more)
Infantile cerebellar-retinal degeneration
GPathogenic
ACO2
(E464*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
ACO2
(G463W)
Single nucleotide variant
(missense variant)
Infantile cerebellar-retinal degeneration
+3 more
GLikely benign
ACO2
(R429W)
Single nucleotide variant
(missense variant)
Infantile cerebellar-retinal degeneration
GUncertain significance
ACO2, POLR3H
(L676V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Infantile cerebellar-retinal degeneration
GUncertain significance
ACO2, POLR3H
(I718T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Infantile cerebellar-retinal degeneration
+1 more
GConflicting classifications of pathogenicity
ACO2, POLR3H
(R684W)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GUncertain significance
ACO2
(T517M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACO2
Single nucleotide variant
(synonymous variant)
ACO2-related disorder
+3 more
GLikely benign
ACO2
(N197S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACO2
(G240D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACO2, POLR3H
(Q780fs)
Deletion
(3 prime UTR variant +1 more)
Infantile cerebellar-retinal degeneration
GPathogenic
POLR3H, ACO2
(P712L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
POLR3H, ACO2
(R607C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Infantile cerebellar-retinal degeneration
+1 more
GConflicting classifications of pathogenicity
ACO2, POLR3H
(R684Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GUncertain significance
ACO2
(G240A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
ACO2, POLR3H
(K776fs)
Deletion
(3 prime UTR variant +1 more)
Infantile cerebellar-retinal degeneration
GPathogenic
ACO2, POLR3H
(K736N)
Single nucleotide variant
(3 prime UTR variant +1 more)
Infantile cerebellar-retinal degeneration
GPathogenic
ACO2
(G259D)
Single nucleotide variant
(missense variant)
Infantile cerebellar-retinal degeneration
GPathogenic
ACO2
(L74V)
Single nucleotide variant
(missense variant)
Optic atrophy 9
+4 more
GConflicting classifications of pathogenicity
ACO2
Single nucleotide variant
(intron variant)
Optic atrophy 9
+3 more
GBenign
ACO2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
ACO2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
ACO2
(S112R)
Single nucleotide variant
(missense variant)
Infantile cerebellar-retinal degeneration
GPathogenic
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