ClinVar for Gene (Select 2244) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069041	NM_005141.5(FGB):c.306+16delinsAGA	FGB	Indel (intron variant)	not specified	GLikely benign
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3058366	NM_005141.5(FGB):c.426T>G (p.Ser142=)	FGB	Single nucleotide variant (synonymous variant +1 more)	FGB-related condition	GLikely benign
Select item 3048409	NM_005141.5(FGB):c.1050C>T (p.Asp350=)	FGB	Single nucleotide variant (synonymous variant)	FGB-related condition	GLikely benign
Select item 3029676	NM_005141.5(FGB):c.188del (p.Pro63fs)	FGB (P63fs)	Deletion (frameshift variant +1 more)	FGB-related condition	GLikely pathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3019733	NM_005141.5(FGB):c.832+11G>A	FGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2999873	NM_005141.5(FGB):c.10A>T (p.Met4Leu)	FGB (M4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983801	NM_005141.5(FGB):c.1425C>T (p.Tyr475=)	FGB	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2918490	NM_005141.5(FGB):c.191C>T (p.Pro64Leu)	FGB (P64L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2917558	NM_005141.5(FGB):c.306+14T>C	FGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900011	NM_005141.5(FGB):c.67T>C (p.Leu23=)	FGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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	GUncertain significance
Select item 2888252	NM_005141.5(FGB):c.670C>T (p.Arg224Cys)	FGB (R165C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885710	NM_005141.5(FGB):c.879C>T (p.Gly293=)	FGB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2765679	NM_005141.5(FGB):c.513G>A (p.Glu171=)	FGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2754950	NM_005141.5(FGB):c.1172T>C (p.Met391Thr)	FGB (M291T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2747925	NM_005141.5(FGB):c.677C>G (p.Pro226Arg)	FGB (P182R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2733834	NM_005141.5(FGB):c.832+10C>T	FGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2732735	NM_005141.5(FGB):c.1203C>T (p.Asn401=)	FGB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2713622	NM_005141.5(FGB):c.460C>T (p.Leu154=)	FGB	Single nucleotide variant (synonymous variant)	FGB-related condition +1 more	GLikely benign
Select item 2713439	NM_005141.5(FGB):c.115-17T>C	FGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2691591	NM_005141.5(FGB):c.498_512del (p.Asn167_Glu171del)	FGB	Deletion (inframe_deletion)	Familial dysfibrinogenemia	GLikely pathogenic
Select item 2691428	NC_000004.11:g.(?_155484162)_(155493960_?)del	FGB	Deletion	Congenital afibrinogenemia	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 2683306	NM_005141.5(FGB):c.134del (p.Gly45fs)	FGB (G45fs)	Deletion (frameshift variant)	not provided	GPathogenic
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	GUncertain significance
Select item 2655148	NM_005141.5(FGB):c.1329C>T (p.Asn443=)	FGB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2637595	NM_005141.5(FGB):c.306+7_306+8delinsAA	FGB	Indel (intron variant)	not specified	GUncertain significance
Select item 2637583	NM_005141.5(FGB):c.773A>C (p.Gln258Pro)	FGB (Q199P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2633944	NM_005141.5(FGB):c.114G>C (p.Glu38Asp)	FGB (E38D)	Single nucleotide variant (missense variant)	FGB-related condition	GUncertain significance
Select item 2632478	NM_005141.5(FGB):c.886T>C (p.Trp296Arg)	FGB (W237R +3 more)	Single nucleotide variant (missense variant +1 more)	FGB-related condition	GUncertain significance
Select item 2630108	NM_005141.5(FGB):c.844A>T (p.Ile282Phe)	FGB (I223F +3 more)	Single nucleotide variant (missense variant +1 more)	FGB-related condition	GUncertain significance
Select item 2628717	NM_005141.5(FGB):c.440A>C (p.Tyr147Ser)	FGB (Y103S +2 more)	Single nucleotide variant (missense variant)	FGB-related condition	GUncertain significance
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 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
Select item 2572164	NM_005141.5(FGB):c.419C>A (p.Thr140Asn)	FGB (T140N +1 more)	Single nucleotide variant (missense variant +1 more)	Familial dysfibrinogenemia	GUncertain significance
Select item 2572127	NM_005141.5(FGB):c.1330G>A (p.Gly444Ser)	FGB (G344S +5 more)	Single nucleotide variant (missense variant +2 more)	Familial dysfibrinogenemia	GUncertain significance
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 2497909	NM_005141.5(FGB):c.595C>T (p.Arg199Cys)	FGB (R140C +2 more)	Single nucleotide variant (missense variant)	FGB-related condition +1 more	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 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 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 2441405	NM_005141.5(FGB):c.1468C>T (p.Gln490Ter)	FGB (Q390* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided	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 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 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 2288560	NM_005141.5(FGB):c.92A>G (p.Gln31Arg)	FGB (Q31R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2256869	NM_005141.5(FGB):c.100A>G (p.Asn34Asp)	FGB (N34D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2175252	NM_005141.5(FGB):c.1072G>A (p.Gly358Arg)	FGB (G314R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2139267	NM_005141.5(FGB):c.140G>A (p.Arg47Gln)	FGB (R47Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078262	NM_005141.5(FGB):c.1191G>A (p.Met397Ile)	FGB (M338I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2078261	NM_005141.5(FGB):c.1026A>G (p.Ile342Met)	FGB (I298M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2041049	NM_005141.5(FGB):c.956C>T (p.Pro319Leu)	FGB (P260L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1982341	NM_005141.5(FGB):c.125G>C (p.Ser42Thr)	FGB (S42T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980480	NM_005141.5(FGB):c.306+16T>A	FGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1980460	NM_005141.5(FGB):c.306+15_306+16insAG	FGB	Insertion (intron variant)	not provided	GBenign
Select item 1810290	GRCh37/hg19 4q31.3-32.1(chr4:154928902-155707223)x3	DCHS2, FGA +5 more	Copy number gain	not provided	Gnot provided
Select item 1703848	NM_005141.5(FGB):c.946T>C (p.Cys316Arg)	FGB (C257R +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital afibrinogenemia	GUncertain significance
Select item 1698816	NM_005141.5(FGB):c.284G>A (p.Cys95Tyr)	FGB (C95Y)	Single nucleotide variant (missense variant +1 more)	Familial dysfibrinogenemia	GUncertain significance
Select item 1687401	NM_005141.5(FGB):c.691T>C (p.Cys231Arg)	FGB (C172R +2 more)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 1677258	NM_005141.5(FGB):c.506T>A (p.Val169Asp)	FGB (V110D +2 more)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 1675187	NM_005141.5(FGB):c.811G>T (p.Asp271Tyr)	FGB (D212Y +2 more)	Single nucleotide variant (missense variant +1 more)	Familial dysfibrinogenemia	GUncertain significance
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 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 1290152	NC_000004.12:g.154562762C>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 1281195	NM_005141.5(FGB):c.306+70G>C	FGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277691	NM_005141.5(FGB):c.490+160C>T	FGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269013	NM_005141.5(FGB):c.832+221del	FGB	Deletion (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 1256963	NM_005141.5(FGB):c.115-490T>A	FGB	Single nucleotide variant (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 1248596	NM_005141.5(FGB):c.832+201_832+202dup	FGB	Duplication (intron variant)	not provided	GBenign
Select item 1245158	NM_005141.5(FGB):c.718+113A>G	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 1237615	NM_005141.5(FGB):c.832+202dup	FGB	Duplication (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 1233839	NC_000004.12:g.154562863C>T	FGB	Single nucleotide variant	not provided	GBenign
Select item 1231187	NM_005141.5(FGB):c.1244+206G>A	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 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
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 981156	NM_005141.5(FGB):c.490+1G>C	FGB	Single nucleotide variant (splice donor variant)	Familial dysfibrinogenemia	GLikely pathogenic
Select item 902925	NM_005141.5(FGB):c.*1070G>C	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GBenign
Select item 902924	NM_005141.5(FGB):c.*1019G>T	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GUncertain significance
Select item 902923	NM_005141.5(FGB):c.*846T>G	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GUncertain significance
Select item 902922	NM_005141.5(FGB):c.*801A>G	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GUncertain significance
Select item 902863	NM_005141.5(FGB):c.762G>A (p.Met254Ile)	FGB (M254I +1 more)	Single nucleotide variant (missense variant)	FGB-related condition +1 more	GConflicting classifications of pathogenicity
Select item 902862	NM_005141.5(FGB):c.752C>T (p.Thr251Ile)	FGB (T251I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 902861	NM_005141.5(FGB):c.749A>G (p.Glu250Gly)	FGB (E191G +1 more)	Single nucleotide variant (missense variant)	Familial dysfibrinogenemia +2 more	GUncertain significance
Select item 902860	NM_005141.5(FGB):c.659T>C (p.Met220Thr)	FGB (M220T +1 more)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 902096	NM_005141.5(FGB):c.*1892G>A	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GUncertain significance
Select item 902037	NM_005141.5(FGB):c.*526C>T	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GUncertain significance
Select item 902036	NM_005141.5(FGB):c.*464C>T	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GUncertain significance
Select item 902035	NM_005141.5(FGB):c.*450T>A	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GUncertain significance

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