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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBP1
(E281K)
Single nucleotide variant
(missense variant)
Fructose-biphosphatase deficiency
+1 more
GPathogenic/Likely pathogenic
FBP1
(R158W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
FBP1
Deletion
(intron variant)
Fructose-biphosphatase deficiency
GUncertain significance
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