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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBP1
(S321fs)
Indel
(frameshift variant)
not provided
+2 more
GPathogenic
FBP1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FBP1
(M289L)
Single nucleotide variant
(missense variant)
FBP1-related disorder
+3 more
GBenign/Likely benign
FBP1
(G260R)
Single nucleotide variant
(missense variant)
Fructose-biphosphatase deficiency
+1 more
GPathogenic/Likely pathogenic
FBP1
(R244W)
Single nucleotide variant
(missense variant)
FBP1-related disorder
+2 more
GConflicting classifications of pathogenicity
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