"GeneDx"[submitter] AND "FBP1"[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
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 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 384873	NM_000507.4(FBP1):c.*4C>T	FBP1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 214361	NM_000507.4(FBP1):c.976C>G (p.Leu326Val)	FBP1 (L326V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 372364	NM_000507.4(FBP1):c.960delinsGG (p.Ser321fs)	FBP1 (S321fs)	Indel (frameshift variant)	FBP1-related condition +2 more	GPathogenic
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 513962	NM_000507.4(FBP1):c.915C>T (p.Asp305=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency +2 more	GLikely benign
Select item 377876	NM_000507.4(FBP1):c.906C>T (p.Ala302=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 422511	NM_000507.4(FBP1):c.880G>A (p.Gly294Arg)	FBP1 (G294R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 214360	NM_000507.4(FBP1):c.865A>T (p.Met289Leu)	FBP1 (M289L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 381580	NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)	FBP1 (E281K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 1203745	NM_000507.4(FBP1):c.826-22G>A	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency +1 more	GBenign/Likely benign
Select item 1229072	NM_000507.4(FBP1):c.826-131C>T	FBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1343842	NM_000507.4(FBP1):c.825+96G>A	FBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 506334	NM_000507.4(FBP1):c.825+14C>G	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency +1 more	GLikely benign
Select item 515760	NM_000507.4(FBP1):c.798C>T (p.Pro266=)	FBP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
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 256325	NM_000507.4(FBP1):c.706-44_706-41del	FBP1	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 256324	NM_000507.4(FBP1):c.705+14C>T	FBP1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1201876	NM_000507.4(FBP1):c.705+5G>A	FBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 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 1226203	NM_000507.4(FBP1):c.567+141G>A	FBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256321	NM_000507.4(FBP1):c.567+31G>A	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency +2 more	GBenign
Select item 214366	NM_000507.4(FBP1):c.496G>A (p.Ala166Thr)	FBP1 (A166T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430265	NM_000507.4(FBP1):c.495C>A (p.Tyr165Ter)	FBP1 (Y165*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 214365	NM_000507.4(FBP1):c.458C>A (p.Ala153Asp)	FBP1 (A153D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1296480	NM_000507.4(FBP1):c.427-133G>C	FBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267532	NM_000507.4(FBP1):c.426+92G>A	FBP1	Single nucleotide variant (intron variant)	not provided	GBenign
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 214364	NM_000507.4(FBP1):c.355G>A (p.Asp119Asn)	FBP1 (D119N)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 377874	NM_000507.4(FBP1):c.345G>A (p.Val115=)	FBP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
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 256319	NM_000507.4(FBP1):c.334-17C>A	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency +1 more	GLikely benign
Select item 1231452	NM_000507.4(FBP1):c.333+114C>T	FBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 383291	NM_000507.4(FBP1):c.324G>A (p.Pro108=)	FBP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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)	not provided +1 more	GUncertain significance
Select item 427178	NM_000507.4(FBP1):c.267del (p.Phe90fs)	FBP1 (F90fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 510982	NM_000507.4(FBP1):c.170+7C>G	FBP1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 137362	NM_000507.4(FBP1):c.141G>C (p.Ser47=)	FBP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 419848	NM_000507.4(FBP1):c.114_119dup (p.Cys39_Thr40dup)	FBP1	Duplication (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
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 387917	NM_000507.4(FBP1):c.78C>T (p.Arg26=)	FBP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 1291396	NM_001127628.2(FBP1):c.-25+335A>T	FBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291339	NM_001127628.2(FBP1):c.-25+313_-25+314insTTGG	FBP1	Insertion (intron variant)	not provided	GBenign
Select item 1262608	NM_001127628.2(FBP1):c.-25+109G>C	FBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291337	NM_001127628.2(FBP1):c.-25+92G>A	FBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 214362	NM_001127628.2(FBP1):c.-40G>C	FBP1	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 1291336	NC_000009.12:g.94640275A>G	FBP1	Single nucleotide variant	not provided	GBenign
Select item 1257556	NC_000009.12:g.94640341C>A	FBP1	Single nucleotide variant	not provided	GBenign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 65