"Ambry Genetics"[submitter] AND "FGB"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2613736	NM_005141.5(FGB):c.16T>C (p.Ser6Pro)	FGB (S6P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288560	NM_005141.5(FGB):c.92A>G (p.Gln31Arg)	FGB (Q31R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256869	NM_005141.5(FGB):c.100A>G (p.Asn34Asp)	FGB (N34D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 901357	NM_005141.5(FGB):c.103G>A (p.Asp35Asn)	FGB (D35N)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia +1 more	GUncertain significance
Select item 2139267	NM_005141.5(FGB):c.140G>A (p.Arg47Gln)	FGB (R47Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2408990	NM_005141.5(FGB):c.244C>A (p.Gln82Lys)	FGB (Q82K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3278577	NM_005141.5(FGB):c.342G>A (p.Glu114=)	FGB	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2058050	NM_005141.5(FGB):c.382G>A (p.Asp128Asn)	FGB (D69N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2306660	NM_005141.5(FGB):c.580A>C (p.Asn194His)	FGB (N194H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494539	NM_005141.5(FGB):c.581A>G (p.Asn194Ser)	FGB (N150S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3278576	NM_005141.5(FGB):c.731T>C (p.Ile244Thr)	FGB (I200T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 902862	NM_005141.5(FGB):c.752C>T (p.Thr251Ile)	FGB (T251I +1 more)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia +1 more	GUncertain significance
Select item 3094595	NM_005141.5(FGB):c.925A>T (p.Asn309Tyr)	FGB (N306Y +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2682872	NM_005141.5(FGB):c.933T>G (p.Asp311Glu)	FGB (D252E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2282227	NM_005141.5(FGB):c.970C>A (p.Leu324Ile)	FGB (L265I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477890	NM_005141.5(FGB):c.1010C>A (p.Pro337His)	FGB (P334H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2894862	NM_005141.5(FGB):c.1183A>G (p.Arg395Gly)	FGB (R392G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3094592	NM_005141.5(FGB):c.1225G>A (p.Asp409Asn)	FGB (D350N +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3094593	NM_005141.5(FGB):c.1249A>G (p.Thr417Ala)	FGB (T317A +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3094594	NM_005141.5(FGB):c.1285G>A (p.Gly429Ser)	FGB (G370S +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2296769	NM_005141.5(FGB):c.1369G>A (p.Ala457Thr)	FGB (A357T +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2480627	NM_005141.5(FGB):c.1402A>G (p.Met468Val)	FGB (M368V +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2249539	NM_005141.5(FGB):c.1406A>G (p.Asn469Ser)	FGB (N369S +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2594747	NM_005141.5(FGB):c.1430T>C (p.Met477Thr)	FGB (M377T +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 24