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Links from MedGen

Items: 1 to 100 of 748

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(synonymous variant +1 more)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(synonymous variant +1 more)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(synonymous variant +1 more)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
(T117K +1 more)
Single nucleotide variant
(missense variant)
Acyl-CoA oxidase deficiency
GUncertain significance
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GUncertain significance
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
(I31V +1 more)
Single nucleotide variant
(missense variant)
Acyl-CoA oxidase deficiency
GUncertain significance
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
(Q304R +1 more)
Single nucleotide variant
(missense variant)
Acyl-CoA oxidase deficiency
GUncertain significance
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
(Q47* +1 more)
Single nucleotide variant
(nonsense)
Acyl-CoA oxidase deficiency
GPathogenic
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Microsatellite
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
(R9G)
Single nucleotide variant
(5 prime UTR variant +1 more)
Acyl-CoA oxidase deficiency
GUncertain significance
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Insertion
(5 prime UTR variant +1 more)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Microsatellite
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
(R18C +1 more)
Single nucleotide variant
(missense variant)
Acyl-CoA oxidase deficiency
GUncertain significance
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GUncertain significance
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
(I497T +1 more)
Single nucleotide variant
(missense variant)
Acyl-CoA oxidase deficiency
GUncertain significance
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Deletion
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
(R354W +1 more)
Single nucleotide variant
(missense variant)
Acyl-CoA oxidase deficiency
GUncertain significance
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
(V207A +1 more)
Single nucleotide variant
(missense variant)
Acyl-CoA oxidase deficiency
GUncertain significance
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
(N501fs +1 more)
Duplication
(frameshift variant)
Acyl-CoA oxidase deficiency
GPathogenic
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Deletion
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(5 prime UTR variant +1 more)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
(N440S +1 more)
Single nucleotide variant
(missense variant)
Acyl-CoA oxidase deficiency
GUncertain significance
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GUncertain significance
ACOX1
(E98Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Acyl-CoA oxidase deficiency
GUncertain significance
ACOX1
Single nucleotide variant
(synonymous variant +1 more)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(splice acceptor variant)
Acyl-CoA oxidase deficiency
GLikely pathogenic
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Deletion
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
(E490K +1 more)
Single nucleotide variant
(missense variant)
Acyl-CoA oxidase deficiency
GUncertain significance
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
(G350V +1 more)
Single nucleotide variant
(missense variant)
Acyl-CoA oxidase deficiency
GUncertain significance
ACOX1
Single nucleotide variant
(synonymous variant +1 more)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(5 prime UTR variant +1 more)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
(W137* +1 more)
Single nucleotide variant
(nonsense)
Acyl-CoA oxidase deficiency
GPathogenic
ACOX1
(K234R +1 more)
Single nucleotide variant
(missense variant)
Acyl-CoA oxidase deficiency
GUncertain significance
ACOX1
Single nucleotide variant
(synonymous variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
ACOX1
Single nucleotide variant
(intron variant)
Acyl-CoA oxidase deficiency
GLikely benign
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