C0016756[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 381580	NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)	FBP1 (E281K)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 561989	NM_000507.4(FBP1):c.778G>A (p.Gly260Arg)	FBP1 (G260R)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GPathogenic/Likely pathogenic
Select item 561988	NM_000507.4(FBP1):c.472C>T (p.Arg158Trp)	FBP1 (R158W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic

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