ClinVar for PMC (Select 5412439) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2828070	NM_000507.4(FBP1):c.860_863dup (p.Met289fs)	FBP1 (M289fs)	Duplication (frameshift variant)	Fructose-biphosphatase deficiency	GPathogenic
Select item 2809502	NM_000507.4(FBP1):c.961dup (p.Ser321fs)	FBP1 (S321fs)	Duplication (frameshift variant)	Fructose-biphosphatase deficiency	GPathogenic
Select item 526506	NM_000507.4(FBP1):c.779del (p.Gly260fs)	FBP1 (G260fs)	Deletion (frameshift variant)	Fructose-biphosphatase deficiency	GPathogenic
Select item 403705	NM_000507.4(FBP1):c.704del (p.Pro235fs)	FBP1 (P235fs)	Deletion (frameshift variant)	Fructose-biphosphatase deficiency	GPathogenic/Likely pathogenic
Select item 372364	NM_000507.4(FBP1):c.960delinsGG (p.Ser321fs)	FBP1 (S321fs)	Indel (frameshift variant)	FBP1-related condition +2 more	GPathogenic
Select item 867	NM_000507.4(FBP1):c.960_961insG (p.Ser321fs)	FBP1 (S321fs)	Insertion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic

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