"Illumina Laboratory Services, Illumina"[submitter] AND "FBP1"[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 367554	NM_000507.4(FBP1):c.*248del	FBP1	Deletion (3 prime UTR variant)	Fructose-biphosphatase deficiency +1 more	GBenign/Likely benign
Select item 913846	NM_000507.4(FBP1):c.*152C>T	FBP1	Single nucleotide variant (3 prime UTR variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 913847	NM_000507.4(FBP1):c.*127C>T	FBP1	Single nucleotide variant (3 prime UTR variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 913848	NM_000507.4(FBP1):c.*121T>G	FBP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 256318	NM_000507.4(FBP1):c.*21C>T	FBP1	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 976589	NM_000507.4(FBP1):c.997G>A (p.Glu333Lys)	FBP1 (E333K)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 214368	NM_000507.4(FBP1):c.970G>A (p.Asp324Asn)	FBP1 (D324N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 256326	NM_000507.4(FBP1):c.960A>G (p.Gly320=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency +2 more	GBenign
Select item 377876	NM_000507.4(FBP1):c.906C>T (p.Ala302=)	FBP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 367555	NM_000507.4(FBP1):c.889A>G (p.Thr297Ala)	FBP1 (T297A)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 912389	NM_000507.4(FBP1):c.835C>T (p.Leu279=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GConflicting classifications of pathogenicity
Select item 912390	NM_000507.4(FBP1):c.826-7T>C	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GConflicting classifications of pathogenicity
Select item 137367	NM_000507.4(FBP1):c.826-9G>C	FBP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 377875	NM_000507.4(FBP1):c.826-15G>T	FBP1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 137366	NM_000507.4(FBP1):c.826-15G>A	FBP1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 912391	NM_000507.4(FBP1):c.764G>T (p.Arg255Leu)	FBP1 (R255L)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 367556	NM_000507.4(FBP1):c.731G>A (p.Arg244Gln)	FBP1 (R244Q)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 214367	NM_000507.4(FBP1):c.730C>T (p.Arg244Trp)	FBP1 (R244W)	Single nucleotide variant (missense variant)	FBP1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 913515	NM_000507.4(FBP1):c.721T>C (p.Tyr241His)	FBP1 (Y241H)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 256324	NM_000507.4(FBP1):c.705+14C>T	FBP1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 511580	NM_000507.4(FBP1):c.705A>G (p.Pro235=)	FBP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 367557	NM_000507.4(FBP1):c.697T>C (p.Phe233Leu)	FBP1 (F233L)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 137365	NM_000507.4(FBP1):c.697T>A (p.Phe233Ile)	FBP1 (F233I)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 214359	NM_000507.4(FBP1):c.670G>A (p.Val224Ile)	FBP1 (V224I)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 214369	NM_000507.4(FBP1):c.668C>A (p.Ala223Asp)	FBP1 (A223D)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency +1 more	GUncertain significance
Select item 256323	NM_000507.4(FBP1):c.653G>A (p.Arg218Lys)	FBP1 (R218K)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 256322	NM_000507.4(FBP1):c.651C>T (p.Ala217=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency +2 more	GBenign
Select item 913894	NM_000507.4(FBP1):c.649G>A (p.Ala217Thr)	FBP1 (A217T)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 913895	NM_000507.4(FBP1):c.495C>T (p.Tyr165=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GConflicting classifications of pathogenicity
Select item 214358	NM_000507.4(FBP1):c.477C>G (p.Asn159Lys)	FBP1 (N159K)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 913896	NM_000507.4(FBP1):c.443C>A (p.Pro148His)	FBP1 (P148H)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 256320	NM_000507.4(FBP1):c.426+7C>T	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency +2 more	GBenign
Select item 915141	NM_000507.4(FBP1):c.397G>A (p.Val133Ile)	FBP1 (V133I)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 214357	NM_000507.4(FBP1):c.334-15T>C	FBP1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 137364	NM_000507.4(FBP1):c.276G>T (p.Thr92=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency +1 more	GBenign
Select item 214363	NM_000507.4(FBP1):c.275C>T (p.Thr92Met)	FBP1 (T92M)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency +2 more	GUncertain significance
Select item 137363	NM_000507.4(FBP1):c.237C>T (p.Asn79=)	FBP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 915142	NM_000507.4(FBP1):c.169C>T (p.Leu57Phe)	FBP1 (L57F)	Single nucleotide variant (missense variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 367558	NM_000507.4(FBP1):c.102G>C (p.Leu34=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 367559	NM_000507.4(FBP1):c.14C>A (p.Ala5Glu)	FBP1 (A5E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 912442	NM_000507.4(FBP1):c.-18G>T	FBP1	Single nucleotide variant (5 prime UTR variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 367560	NM_000507.4(FBP1):c.-54C>A	FBP1	Single nucleotide variant (5 prime UTR variant +1 more)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 367561	NM_000507.4(FBP1):c.-59A>T	FBP1	Single nucleotide variant (5 prime UTR variant +1 more)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 912443	NM_000507.4(FBP1):c.-130C>A	FBP1	Single nucleotide variant (5 prime UTR variant +1 more)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 367562	NM_000507.4(FBP1):c.-154C>G	FBP1	Single nucleotide variant (5 prime UTR variant +1 more)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 367563	NM_000507.4(FBP1):c.-194C>T	FBP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 367564	NM_000507.4(FBP1):c.-208C>G	FBP1	Single nucleotide variant (5 prime UTR variant +1 more)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 367565	NM_000507.3(FBP1):c.-215G>C	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 367566	NM_000507.3(FBP1):c.-219C>T	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 367567	NM_000507.3(FBP1):c.-238G>A	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 367568	NM_000507.3(FBP1):c.-246G>T	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 369631	NM_001127628.2(FBP1):c.-24-321C>G	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GUncertain significance
Select item 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic

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Items: 53