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Links from MedGen

Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACOX1
Deletion
(nonsense)
Mitchell syndrome
GLikely pathogenic
ACOX1
(N128fs +1 more)
Deletion
(frameshift variant)
Mitchell syndrome
GLikely pathogenic
ACOX1
Deletion
(splice acceptor variant)
Mitchell syndrome
+1 more
GLikely pathogenic
ACOX1
(E447* +1 more)
Single nucleotide variant
(nonsense)
Mitchell syndrome
GLikely pathogenic
ACOX1
Single nucleotide variant
(splice acceptor variant)
Mitchell syndrome
GLikely pathogenic
ACOX1
(Y227* +1 more)
Single nucleotide variant
(nonsense)
Mitchell syndrome
GLikely pathogenic
ACOX1
(V388fs +1 more)
Deletion
(frameshift variant)
Acyl-CoA oxidase deficiency
+1 more
GPathogenic
ACOX1
(E102fs +1 more)
Microsatellite
(frameshift variant +1 more)
Mitchell syndrome
GLikely pathogenic
ACOX1
(V248fs +1 more)
Duplication
(frameshift variant)
Mitchell syndrome
GLikely pathogenic
ACOX1
Microsatellite
(nonsense)
Mitchell syndrome
+1 more
GPathogenic/Likely pathogenic
ACOX1
(E46* +1 more)
Single nucleotide variant
(nonsense)
Mitchell syndrome
+1 more
GPathogenic/Likely pathogenic
ACOX1
(R264* +1 more)
Single nucleotide variant
(nonsense)
Acyl-CoA oxidase deficiency
+1 more
GPathogenic
ACOX1
Single nucleotide variant
(splice acceptor variant)
Acyl-CoA oxidase deficiency
+1 more
GLikely pathogenic
ACOX1
(S530fs +1 more)
Microsatellite
(frameshift variant)
Acyl-CoA oxidase deficiency
+1 more
GPathogenic/Likely pathogenic
ACOX1
(L464V +1 more)
Single nucleotide variant
(missense variant)
Mitchell syndrome
+1 more
GUncertain significance
ACOX1
(A12P)
Single nucleotide variant
(5 prime UTR variant +1 more)
Acyl-CoA oxidase deficiency
+1 more
GUncertain significance
ACOX1
(G101S)
Single nucleotide variant
(missense variant +1 more)
Mitchell syndrome
+2 more
GBenign/Likely benign
ACOX1
Single nucleotide variant
(intron variant)
Mitchell syndrome
+2 more
GBenign
ACOX1
Single nucleotide variant
(intron variant)
Mitchell syndrome
+2 more
GBenign
ACOX1
Single nucleotide variant
(intron variant)
Mitchell syndrome
+2 more
GBenign
ACOX1
Single nucleotide variant
(intron variant)
Mitchell syndrome
+2 more
GBenign
ACOX1
(S400fs +1 more)
Deletion
(frameshift variant)
Mitchell syndrome
+1 more
GPathogenic/Likely pathogenic
ACOX1
(R452H +1 more)
Single nucleotide variant
(missense variant)
Mitchell syndrome
+1 more
GUncertain significance
ACOX1
Single nucleotide variant
(splice donor variant)
Mitchell syndrome
+1 more
GPathogenic/Likely pathogenic
ACOX1
(D573fs +1 more)
Deletion
(frameshift variant)
Acyl-CoA oxidase deficiency
+1 more
GPathogenic/Likely pathogenic
ACOX1
(N237S +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
ACOX1
(Q47fs +1 more)
Deletion
(frameshift variant)
Mitchell syndrome
+1 more
GPathogenic/Likely pathogenic
ACOX1
(K241R +1 more)
Single nucleotide variant
(missense variant)
Acyl-CoA oxidase deficiency
+3 more
GUncertain significance
ACOX1
(T153I +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ACOX1
(I312M +1 more)
Single nucleotide variant
(missense variant)
Mitchell syndrome
+3 more
GBenign
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