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

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1290152	NC_000004.12:g.154562762C>T	FGB	Single nucleotide variant	not provided	GBenign
Select item 1233839	NC_000004.12:g.154562863C>T	FGB	Single nucleotide variant	not provided	GBenign
Select item 1285883	NM_005141.5(FGB):c.114+227G>A	FGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234634	NM_005141.5(FGB):c.115-579C>T	FGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256963	NM_005141.5(FGB):c.115-490T>A	FGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241440	NM_005141.5(FGB):c.115-314T>C	FGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281195	NM_005141.5(FGB):c.306+70G>C	FGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1315159	NM_005141.5(FGB):c.478A>G (p.Lys160Glu)	FGB (K101E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1277691	NM_005141.5(FGB):c.490+160C>T	FGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228105	NM_005141.5(FGB):c.490+248A>T	FGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3343504	NM_005141.5(FGB):c.556A>T (p.Thr186Ser)	FGB (T127S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259648	NM_005141.5(FGB):c.567C>T (p.Ser189=)	FGB	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2497909	NM_005141.5(FGB):c.595C>T (p.Arg199Cys)	FGB (R140C +2 more)	Single nucleotide variant (missense variant)	FGB-related disorder +1 more	GUncertain significance
Select item 1163448	NM_005141.5(FGB):c.656A>G (p.Gln219Arg)	FGB (Q160R +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1245158	NM_005141.5(FGB):c.718+113A>G	FGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262054	NM_005141.5(FGB):c.718+123A>G	FGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248596	NM_005141.5(FGB):c.832+201_832+202dup	FGB	Duplication (intron variant)	not provided	GBenign
Select item 1237615	NM_005141.5(FGB):c.832+202dup	FGB	Duplication (intron variant)	not provided	GBenign
Select item 1269013	NM_005141.5(FGB):c.832+221del	FGB	Deletion (intron variant)	not provided	GBenign
Select item 1251200	NM_005141.5(FGB):c.832+218_832+221del	FGB	Deletion (intron variant)	not provided	GBenign
Select item 3340176	NM_005141.5(FGB):c.862G>A (p.Gly288Ser)	FGB (G229S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 259650	NM_005141.5(FGB):c.959-13_959-10del	FGB	Deletion (intron variant)	not specified +2 more	GBenign
Select item 1308334	NM_005141.5(FGB):c.1124A>G (p.Tyr375Cys)	FGB (Y275C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 259645	NM_005141.5(FGB):c.1125C>T (p.Tyr375=)	FGB	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 2498020	NM_005141.5(FGB):c.1133C>T (p.Thr378Ile)	FGB (T278I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1231187	NM_005141.5(FGB):c.1244+206G>A	FGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 16384	NM_005141.4(FGB):c.1433G>A (p.Arg478Lys)	FGB (R478K +5 more)	Single nucleotide variant (missense variant +2 more)	Congenital afibrinogenemia +2 more	GBenign
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic

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Items: 29