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Links from MedGen

Items: 1 to 100 of 274

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBP1
Single nucleotide variant
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(splice acceptor variant)
Fructose-biphosphatase deficiency
GLikely pathogenic
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
(R218K)
Indel
(missense variant)
Fructose-biphosphatase deficiency
GBenign
FBP1
Single nucleotide variant
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Deletion
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
(Y241*)
Single nucleotide variant
(nonsense)
Fructose-biphosphatase deficiency
GPathogenic
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
(L95fs)
Deletion
(frameshift variant)
Fructose-biphosphatase deficiency
GPathogenic
FBP1
(E109*)
Single nucleotide variant
(nonsense)
Fructose-biphosphatase deficiency
GPathogenic
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Microsatellite
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
(S248fs)
Duplication
(frameshift variant)
Fructose-biphosphatase deficiency
GPathogenic
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
(M289fs)
Duplication
(frameshift variant)
Fructose-biphosphatase deficiency
GPathogenic
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
(Y168*)
Single nucleotide variant
(nonsense)
Fructose-biphosphatase deficiency
GPathogenic
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
(S321fs)
Duplication
(frameshift variant)
Fructose-biphosphatase deficiency
GPathogenic
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
(S321fs)
Deletion
(frameshift variant)
Fructose-biphosphatase deficiency
GPathogenic
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(intron variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
FBP1
(A44fs)
Deletion
(frameshift variant)
Fructose-biphosphatase deficiency
GPathogenic
FBP1
Single nucleotide variant
(synonymous variant)
Fructose-biphosphatase deficiency
GLikely benign
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