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Links from MedGen

Items: 1 to 100 of 448

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SUOX
Deletion
Sulfite oxidase deficiency
GPathogenic
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
(W101*)
Single nucleotide variant
(nonsense)
Sulfite oxidase deficiency
GPathogenic
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
(Q154*)
Single nucleotide variant
(nonsense)
Sulfite oxidase deficiency
GPathogenic
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
(P200fs)
Deletion
(frameshift variant)
Sulfite oxidase deficiency
GPathogenic
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
(Q518*)
Single nucleotide variant
(nonsense)
Sulfite oxidase deficiency
GPathogenic
SUOX
Insertion
(frameshift variant)
Sulfite oxidase deficiency
GPathogenic
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
(G240fs)
Deletion
(frameshift variant)
Sulfite oxidase deficiency
GPathogenic
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
(E442fs)
Deletion
(frameshift variant)
Sulfite oxidase deficiency
GPathogenic
SUOX
(Q471fs)
Deletion
(frameshift variant)
Sulfite oxidase deficiency
GPathogenic
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
(R17fs)
Duplication
(frameshift variant)
Sulfite oxidase deficiency
GPathogenic
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
(Q145fs)
Deletion
(frameshift variant)
Sulfite oxidase deficiency
GPathogenic
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
(D461fs)
Duplication
(frameshift variant)
Sulfite oxidase deficiency
GPathogenic
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
(Q13*)
Single nucleotide variant
(nonsense)
Sulfite oxidase deficiency
GPathogenic
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
(T469fs)
Deletion
(frameshift variant)
Sulfite oxidase deficiency
GPathogenic
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
(R40fs)
Microsatellite
(frameshift variant)
Sulfite oxidase deficiency
GPathogenic
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Deletion
(nonsense)
Sulfite oxidase deficiency
GPathogenic
SUOX
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(intron variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
(G374fs)
Deletion
(frameshift variant)
Sulfite oxidase deficiency
GPathogenic
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
(Y515*)
Single nucleotide variant
(nonsense)
Sulfite oxidase deficiency
GPathogenic
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
(W488*)
Single nucleotide variant
(nonsense)
Sulfite oxidase deficiency
GPathogenic
SUOX
(W526*)
Single nucleotide variant
(nonsense)
Sulfite oxidase deficiency
GPathogenic
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
SUOX
Single nucleotide variant
(synonymous variant)
Sulfite oxidase deficiency
GLikely benign
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