Fga Variant Search Result - Rat Genome Database

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311 records found for search term Fga

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11549273	CV251348	single nucleotide variant	NM_021871.4(FGA):c.-14C>T	not specified [RCV000250194]	likely benign	4	154590701	154590701	Human		name
11589709	CV297315	single nucleotide variant	NM_021871.3(FGA):c.-58A>G	Congenital afibrinogenemia [RCV000396755]\|Familial visceral amyloidosis, Ostertag type [RCV000312840]\|not provided [RCV001723948]	benign\|likely benign	4	154590745	154590745	Human	2	name
11583386	CV297334	single nucleotide variant	NM_021871.4(FGA):c.*50T>G	Congenital afibrinogenemia [RCV000266418]\|Familial visceral amyloidosis, Ostertag type [RCV000358780]	benign\|uncertain significance	4	154585444	154585444	Human	2	name
150511732	CV1242786	single nucleotide variant	NM_000508.5(FGA):c.*328C>T	not provided [RCV001661139]	benign	4	154583796	154583796	Human		name
596946258	CV3550523	single nucleotide variant	NM_021871.4(FGA):c.55-1G>T	not provided [RCV004819061]	likely pathogenic	4	154589563	154589563	Human		name
28877565	CV890261	single nucleotide variant	NM_021871.4(FGA):c.*133G>A	Congenital afibrinogenemia [RCV001148383]\|Familial visceral amyloidosis, Ostertag type [RCV001148384]	benign\|uncertain significance	4	154585361	154585361	Human	2	name
150544196	CV1313193	single nucleotide variant	NM_021871.4(FGA):c.364+1G>A	Familial visceral amyloidosis, Ostertag type [RCV002506823]	pathogenic\|likely pathogenic	4	154588792	154588792	Human	3	name
152155374	CV1668339	single nucleotide variant	NM_021871.4(FGA):c.364+5G>A	Congenital afibrinogenemia [RCV002222136]	uncertain significance	4	154588788	154588788	Human	1	name
8565606	CV31454	single nucleotide variant	NM_021871.4(FGA):c.510+1G>T	Congenital afibrinogenemia [RCV000017877]\|Familial dysfibrinogenemia [RCV004700245]\|Familial hypodysfibrinogenemia [RCV000030942]\|Familial visceral amyloidosis, Ostertag type [RCV002496394]\|Hypofibrinogenemia [RCV000851811]\|not provided [RCV002513088]	pathogenic	4	154587511	154587511	Human	4	name
150463422	CV1235053	single nucleotide variant	NM_021871.4(FGA):c.510+60G>A	not provided [RCV001649635]	benign	4	154587452	154587452	Human		name
150494585	CV1256488	single nucleotide variant	NM_021871.4(FGA):c.181-96T>A	not provided [RCV001675453]	benign	4	154589072	154589072	Human		name
150445757	CV1261252	single nucleotide variant	NM_021871.4(FGA):c.510+37C>T	not provided [RCV001679926]	benign	4	154587475	154587475	Human		name
11546900	CV251346	duplication	NM_000508.5(FGA):c.7_34dup	not provided [RCV001668437]\|not specified [RCV000247066]	benign	4	154584089	154584090	Human		name
596920477	CV3534618	single nucleotide variant	NM_021871.4(FGA):c.180+16G>C	not specified [RCV004782179]	likely benign	4	154589421	154589421	Human		name
597742927	CV3721288	single nucleotide variant	NM_021871.4(FGA):c.510+13C>T	Familial visceral amyloidosis, Ostertag type [RCV005038996]	uncertain significance	4	154587499	154587499	Human	3	name
28871411	CV891754	single nucleotide variant	NM_021871.4(FGA):c.181-14C>T	Congenital afibrinogenemia [RCV001145838]\|Familial visceral amyloidosis, Ostertag type [RCV001145837]\|Familial visceral amyloidosis, Ostertag type [RCV002491431]\|not specified [RCV003987788]	benign\|likely benign	4	154588990	154588990	Human	3	name
150514498	CV1212033	single nucleotide variant	NM_021871.4(FGA):c.181-148G>A	not provided [RCV001599102]	benign	4	154589124	154589124	Human		name
150462551	CV1234929	single nucleotide variant	NM_021871.4(FGA):c.180+123G>A	not provided [RCV001649511]	benign	4	154589314	154589314	Human		name
150458547	CV1269652	single nucleotide variant	NM_021871.4(FGA):c.181-186T>C	not provided [RCV001693192]	benign	4	154589162	154589162	Human		name
150466347	CV1218174	microsatellite	NM_021871.4(FGA):c.365-144TTCT[16]	not provided [RCV001614300]	benign	4	154587745	154587746	Human		name
150491422	CV1225301	microsatellite	NM_021871.4(FGA):c.365-144TTCT[11]	not provided [RCV001618816]	benign	4	154587746	154587757	Human		name
150436292	CV1249671	microsatellite	NM_021871.4(FGA):c.365-144TTCT[12]	not provided [RCV001665585]	benign	4	154587746	154587753	Human		name
150475810	CV1251769	microsatellite	NM_021871.4(FGA):c.365-144TTCT[13]	not provided [RCV001671967]	benign	4	154587746	154587749	Human		name
150455507	CV1268944	microsatellite	NM_021871.4(FGA):c.365-144TTCT[15]	not provided [RCV001692768]	benign	4	154587745	154587746	Human		name
150474137	CV1272286	microsatellite	NM_021871.4(FGA):c.365-144TTCT[17]	not provided [RCV001695824]	benign	4	154587745	154587746	Human		name
152037526	CV1669132	deletion	NM_021871.4(FGA):c.180+2_180+17del	not provided [RCV002224184]	likely pathogenic	4	154589420	154589435	Human		name
126752542	CV1025681	single nucleotide variant	NM_021871.4(FGA):c.8C>T (p.Ser3Phe)	Familial visceral amyloidosis, Ostertag type [RCV002486352]\|not provided [RCV001338449]	uncertain significance	4	154590680	154590680	Human	3	name
408385828	CV3520372	single nucleotide variant	NM_021871.4(FGA):c.5T>C (p.Phe2Ser)	not provided [RCV004760193]	uncertain significance	4	154590683	154590683	Human		name
597654680	CV3721298	single nucleotide variant	NM_021871.4(FGA):c.99C>T (p.Gly33=)	Familial visceral amyloidosis, Ostertag type [RCV005027271]	uncertain significance	4	154589518	154589518	Human	3	name
597654700	CV3721300	single nucleotide variant	NM_021871.4(FGA):c.84A>T (p.Leu28=)	Familial visceral amyloidosis, Ostertag type [RCV005027273]	uncertain significance	4	154589533	154589533	Human	3	name
11589210	CV297314	single nucleotide variant	NM_021871.4(FGA):c.16A>G (p.Ile6Val)	Congenital afibrinogenemia [RCV000366318]\|Familial visceral amyloidosis, Ostertag type [RCV000309151]\|not provided [RCV000953503]	benign	4	154590672	154590672	Human	2	name
597742956	CV3721302	single nucleotide variant	NM_021871.4(FGA):c.23G>C (p.Cys8Ser)	Familial visceral amyloidosis, Ostertag type [RCV005039000]	uncertain significance	4	154590665	154590665	Human	3	name
597654720	CV3721303	single nucleotide variant	NM_021871.4(FGA):c.19G>A (p.Val7Ile)	Familial visceral amyloidosis, Ostertag type [RCV005027275]	uncertain significance	4	154590669	154590669	Human	3	name
597654729	CV3721304	single nucleotide variant	NM_021871.4(FGA):c.14G>A (p.Arg5Lys)	Familial visceral amyloidosis, Ostertag type [RCV005027276]	uncertain significance	4	154590674	154590674	Human	3	name
616933650	CV4011608	single nucleotide variant	NM_021871.4(FGA):c.19G>T (p.Val7Phe)	not specified [RCV005408156]	uncertain significance	4	154590669	154590669	Human		name
243049477	CV2416853	single nucleotide variant	NM_021871.4(FGA):c.28G>A (p.Val10Ile)	not specified [RCV003151525]	uncertain significance	4	154590660	154590660	Human		name
11585724	CV293933	single nucleotide variant	NM_021871.4(FGA):c.450G>A (p.Gln150=)	Congenital afibrinogenemia [RCV000340627]\|Familial visceral amyloidosis, Ostertag type [RCV000283016]\|not specified [RCV004526668]	benign\|likely benign\|uncertain significance	4	154587572	154587572	Human	2	name
11591524	CV297304	single nucleotide variant	NM_021871.4(FGA):c.765G>A (p.Pro255=)	Congenital afibrinogenemia [RCV000386537]\|Familial visceral amyloidosis, Ostertag type [RCV000329775]	uncertain significance	4	154586664	154586664	Human	2	name
11647280	CV297305	single nucleotide variant	NM_021871.4(FGA):c.666A>T (p.Pro222=)	Congenital afibrinogenemia [RCV000275684]\|Familial visceral amyloidosis, Ostertag type [RCV000333223]	uncertain significance	4	154586763	154586763	Human	2	name
11646681	CV297350	single nucleotide variant	NM_021871.4(FGA):c.822C>T (p.Ser274=)	Congenital afibrinogenemia [RCV000364658]\|Familial visceral amyloidosis, Ostertag type [RCV000272340]	uncertain significance	4	154586607	154586607	Human	2	name
8565589	CV31436	single nucleotide variant	NM_000508.3(FGA):c.76G>A (p.Asp26Asn)	FIBRINOGEN LILLE 1 [RCV000017823]	other	4	154589541	154589541	Human		name
8565590	CV31437	single nucleotide variant	NM_000508.3(FGA):c.92G>T (p.Gly31Val)	FIBRINOGEN ROUEN 1 [RCV000017824]\|Familial visceral amyloidosis, Ostertag type [RCV005025065]\|not provided [RCV002284175]\|not specified [RCV004799746]	likely pathogenic\|uncertain significance\|other	4	154589525	154589525	Human	3	name
405284490	CV3190417	single nucleotide variant	NM_021871.4(FGA):c.435C>A (p.Val145=)	FGA-related disorder [RCV004536880]	likely benign	4	154587587	154587587	Human		name , trait , alternate_id
405273735	CV3198198	single nucleotide variant	NM_021871.4(FGA):c.702C>G (p.Pro234=)	FGA-related disorder [RCV004534580]	likely benign	4	154586727	154586727	Human		name , trait , alternate_id
405269494	CV3201681	single nucleotide variant	NM_021871.4(FGA):c.804G>A (p.Glu268=)	FGA-related disorder [RCV004534523]\|Familial visceral amyloidosis, Ostertag type [RCV005038629]	likely benign\|uncertain significance	4	154586625	154586625	Human	3	name , trait , alternate_id
405295358	CV3204435	single nucleotide variant	NM_021871.4(FGA):c.699T>C (p.Val233=)	FGA-related disorder [RCV004543983]	likely benign	4	154586730	154586730	Human		name , trait , alternate_id
405854407	CV3393033	single nucleotide variant	NM_021871.4(FGA):c.345C>T (p.Gly115=)	not specified [RCV004527190]	likely benign	4	154588812	154588812	Human		name
407501218	CV3439068	single nucleotide variant	NM_021871.4(FGA):c.52T>C (p.Trp18Arg)	Inborn genetic diseases [RCV004623210]	uncertain significance	4	154590636	154590636	Human	1	name
407472319	CV3495252	single nucleotide variant	NM_021871.4(FGA):c.40G>A (p.Val14Met)	Familial visceral amyloidosis, Ostertag type [RCV005023641]\|not specified [RCV004689527]	pathogenic\|uncertain significance	4	154590648	154590648	Human	3	name
408381010	CV3501758	single nucleotide variant	NM_021871.4(FGA):c.95G>A (p.Gly32Glu)	not provided [RCV004729286]	likely pathogenic	4	154589522	154589522	Human		name
597654689	CV3721299	single nucleotide variant	NM_021871.4(FGA):c.97G>A (p.Gly33Ser)	Familial visceral amyloidosis, Ostertag type [RCV005027272]	uncertain significance	4	154589520	154589520	Human	3	name
597654709	CV3721301	single nucleotide variant	NM_021871.4(FGA):c.40G>T (p.Val14Leu)	Familial visceral amyloidosis, Ostertag type [RCV005027274]	uncertain significance	4	154590648	154590648	Human	3	name
597654545	CV3724753	single nucleotide variant	NM_021871.4(FGA):c.648A>G (p.Arg216=)	Familial visceral amyloidosis, Ostertag type [RCV005027257]	uncertain significance	4	154586781	154586781	Human	3	name
597654562	CV3724754	single nucleotide variant	NM_021871.4(FGA):c.645T>C (p.Ser215=)	Familial visceral amyloidosis, Ostertag type [RCV005027259]	uncertain significance	4	154586784	154586784	Human	3	name
598124377	CV3885182	single nucleotide variant	NM_021871.4(FGA):c.807T>C (p.Ile269=)	not specified [RCV005239759]	likely benign	4	154586622	154586622	Human		name
14975782	CV615382	deletion	NM_021871.4(FGA):c.117del (p.Val40fs)	FGA-related disorder [RCV004735797]\|Familial dysfibrinogenemia [RCV002067219]\|Familial visceral amyloidosis, Ostertag type [RCV005029421]\|Hypofibrinogenemia [RCV000852003]	pathogenic\|likely pathogenic	4	154589500	154589500	Human	4	name , trait , alternate_id
15133566	CV709204	single nucleotide variant	NM_021871.4(FGA):c.300G>A (p.Lys100=)	Congenital afibrinogenemia [RCV001143942]\|FGA-related disorder [RCV004535939]\|Familial visceral amyloidosis, Ostertag type [RCV001143941]\|Familial visceral amyloidosis, Ostertag type [RCV002503028]\|not provided [RCV000964974]\|not specified [RCV003987751]	benign\|likely benign	4	154588857	154588857	Human	3	name , trait , alternate_id
15151681	CV720803	single nucleotide variant	NM_021871.4(FGA):c.780G>A (p.Glu260=)	FGA-related disorder [RCV004530891]\|Familial visceral amyloidosis, Ostertag type [RCV002495336]\|not provided [RCV000879648]	benign\|likely benign	4	154586649	154586649	Human	3	name , trait , alternate_id
151356410	CV1329174	single nucleotide variant	NM_021871.4(FGA):c.1833C>T (p.Ala611=)	not specified [RCV001822763]	likely benign	4	154585596	154585596	Human		name
152040835	CV1669782	single nucleotide variant	NM_021871.4(FGA):c.154T>A (p.Trp52Arg)	Inborn genetic diseases [RCV004047218]\|not provided [RCV002224683]	uncertain significance	4	154589463	154589463	Human	1	name
152981157	CV1676417	single nucleotide variant	NM_021871.4(FGA):c.103C>G (p.Arg35Gly)	Afibrinogenemia [RCV002245494]\|Familial dysfibrinogenemia [RCV003313800]	likely pathogenic\|uncertain significance	4	154589514	154589514	Human	3	name
155797144	CV1860182	deletion	NM_021871.4(FGA):c.713del (p.Lys238fs)	Congenital afibrinogenemia [RCV004785730]\|Familial visceral amyloidosis, Ostertag type [RCV002466823]	pathogenic\|likely pathogenic	4	154586716	154586716	Human	2	name
329401222	CV2442178	single nucleotide variant	NM_021871.4(FGA):c.249C>A (p.Asn83Lys)	Inborn genetic diseases [RCV003198228]	uncertain significance	4	154588908	154588908	Human	1	name
11543068	CV251347	single nucleotide variant	NM_000508.5(FGA):c.2586C>T (p.Pro862=)	not provided [RCV000961585]\|not specified [RCV000241967]	benign	4	154584139	154584139	Human		name
401932164	CV2799296	deletion	NM_021871.4(FGA):c.878del (p.Gly293fs)	FGA-related disorder [RCV004531662]	likely pathogenic	4	154586551	154586551	Human		name , trait , alternate_id
401921402	CV2804595	single nucleotide variant	NM_021871.4(FGA):c.107G>A (p.Gly36Asp)	FGA-related disorder [RCV004534409]	likely pathogenic	4	154589510	154589510	Human		name , trait , alternate_id
401923582	CV2820233	single nucleotide variant	NM_021871.4(FGA):c.1327A>C (p.Arg443=)	not provided [RCV003435192]	likely benign	4	154586102	154586102	Human		name
401960947	CV2844337	single nucleotide variant	NM_021871.4(FGA):c.163T>C (p.Cys55Arg)	not provided [RCV003480132]	pathogenic	4	154589454	154589454	Human		name
11587157	CV293931	single nucleotide variant	NM_021871.4(FGA):c.1542T>C (p.Pro514=)	Congenital afibrinogenemia [RCV000385254]\|Familial visceral amyloidosis, Ostertag type [RCV000293267]\|not provided [RCV000946817]	benign\|likely benign	4	154585887	154585887	Human	2	name
11592948	CV297313	single nucleotide variant	NM_021871.4(FGA):c.244A>C (p.Thr82Pro)	Congenital afibrinogenemia [RCV000344051]\|Familial visceral amyloidosis, Ostertag type [RCV000404726]\|not specified [RCV005238933]	benign\|uncertain significance	4	154588913	154588913	Human	2	name
8565591	CV31438	single nucleotide variant	NM_000508.3(FGA):c.103C>T (p.Arg35Cys)	Dysfibrinogenemia [RCV000017825]\|FGA-related disorder [RCV004532378]\|Familial dysfibrinogenemia [RCV003330394]\|not provided [RCV002284176]	pathogenic\|likely pathogenic\|other	4	154589514	154589514	Human	2	name , trait , alternate_id
8565594	CV31441	single nucleotide variant	NM_000508.3(FGA):c.112A>G (p.Arg38Gly)	FGA-related disorder [RCV004734521]\|FIBRINOGEN AARHUS 1 [RCV000017843]\|Hypofibrinogenemia [RCV000851993]\|not provided [RCV002284177]	pathogenic\|likely pathogenic\|other	4	154589505	154589505	Human	3	name , trait , alternate_id
8565595	CV31442	single nucleotide variant	NM_000508.3(FGA):c.110C>T (p.Pro37Leu)	FIBRINOGEN KYOTO 2 [RCV000017844]	other	4	154589507	154589507	Human		name
8570025	CV31443	single nucleotide variant	NM_021871.4(FGA):c.104G>A (p.Arg35His)	Abnormal bleeding [RCV000851971]\|Dysfibrinogenemia [RCV000030941]\|FGA-related disorder [RCV004532379]\|Familial dysfibrinogenemia [RCV002228034]\|Familial visceral amyloidosis, Ostertag type [RCV002476987]\|Hypofibrinogenemia [RCV000851581]\|not provided [RCV0015092 ... (more) 36]	pathogenic\|likely pathogenic\|other	4	154589513	154589513	Human	7	name , trait , alternate_id
8565603	CV31451	single nucleotide variant	NM_000508.3(FGA):c.116T>A (p.Val39Asp)	FIBRINOGEN CANTERBURY [RCV000017874]	other	4	154589501	154589501	Human		name
405277911	CV3205675	single nucleotide variant	NM_000508.5(FGA):c.1989C>T (p.Cys663=)	FGA-related disorder [RCV004545590]	likely benign	4	154584736	154584736	Human		name , trait , alternate_id
405759038	CV3253488	single nucleotide variant	NM_021871.4(FGA):c.183C>A (p.Asn61Lys)	Inborn genetic diseases [RCV004393922]	uncertain significance	4	154588974	154588974	Human	1	name
405759044	CV3253489	single nucleotide variant	NM_021871.4(FGA):c.206G>A (p.Arg69Lys)	Inborn genetic diseases [RCV004393923]	uncertain significance	4	154588951	154588951	Human	1	name
405854507	CV3393097	single nucleotide variant	NM_021871.4(FGA):c.263T>A (p.Leu88His)	not provided [RCV004588559]\|not specified [RCV004527254]	likely benign\|uncertain significance	4	154588894	154588894	Human		name
408369112	CV3508593	deletion	NM_021871.4(FGA):c.934del (p.Ser312fs)	FGA-related disorder [RCV004736582]	likely pathogenic	4	154586495	154586495	Human		name , trait , alternate_id
596924979	CV3536849	duplication	NM_021871.4(FGA):c.473dup (p.Asn158fs)	Congenital afibrinogenemia [RCV004785843]	likely pathogenic	4	154587548	154587549	Human	1	name
596947534	CV3549092	single nucleotide variant	NM_021871.4(FGA):c.1089C>A (p.Gly363=)	not provided [RCV004811416]	likely benign	4	154586340	154586340	Human		name
597672951	CV3703372	single nucleotide variant	NM_021871.4(FGA):c.180G>A (p.Trp60Ter)	Congenital afibrinogenemia [RCV004823555]	pathogenic	4	154589437	154589437	Human	1	name
597654631	CV3721291	single nucleotide variant	NM_021871.4(FGA):c.295A>G (p.Asn99Asp)	Familial visceral amyloidosis, Ostertag type [RCV005027266]	uncertain significance	4	154588862	154588862	Human	3	name
597742941	CV3721292	single nucleotide variant	NM_021871.4(FGA):c.248A>G (p.Asn83Ser)	Familial visceral amyloidosis, Ostertag type [RCV005038998]	uncertain significance	4	154588909	154588909	Human	3	name
597654641	CV3721293	single nucleotide variant	NM_021871.4(FGA):c.214G>C (p.Gly72Arg)	Familial visceral amyloidosis, Ostertag type [RCV005027267]	uncertain significance	4	154588943	154588943	Human	3	name
597654650	CV3721294	single nucleotide variant	NM_021871.4(FGA):c.164G>C (p.Cys55Ser)	Familial visceral amyloidosis, Ostertag type [RCV005027268]	uncertain significance	4	154589453	154589453	Human	3	name
597654662	CV3721295	single nucleotide variant	NM_021871.4(FGA):c.124A>G (p.Arg42Gly)	Familial visceral amyloidosis, Ostertag type [RCV005027269]	uncertain significance	4	154589493	154589493	Human	3	name
597742948	CV3721296	single nucleotide variant	NM_021871.4(FGA):c.122A>T (p.Glu41Val)	Familial visceral amyloidosis, Ostertag type [RCV005038999]	uncertain significance	4	154589495	154589495	Human	3	name
597654670	CV3721297	single nucleotide variant	NM_021871.4(FGA):c.100G>A (p.Val34Met)	Familial visceral amyloidosis, Ostertag type [RCV005027270]	uncertain significance	4	154589517	154589517	Human	3	name
13831573	CV582071	single nucleotide variant	NM_021871.4(FGA):c.193C>A (p.Pro65Thr)	not provided [RCV000722253]	uncertain significance	4	154588964	154588964	Human		name
14975753	CV615380	deletion	NM_021871.4(FGA):c.945del (p.Gly316fs)	Hypofibrinogenemia [RCV000851912]	pathogenic	4	154586484	154586484	Human	2	name
14975765	CV615383	single nucleotide variant	NM_021871.4(FGA):c.104G>C (p.Arg35Pro)	Hypofibrinogenemia [RCV000851972]	pathogenic	4	154589513	154589513	Human	2	name
14975762	CV615384	single nucleotide variant	NM_021871.4(FGA):c.103C>A (p.Arg35Ser)	Hypofibrinogenemia [RCV000851968]	pathogenic	4	154589514	154589514	Human	2	name
14689305	CV620154	single nucleotide variant	NM_021871.4(FGA):c.187A>T (p.Lys63Ter)	Familial dysfibrinogenemia [RCV005418812]	pathogenic\|uncertain significance	4	154588970	154588970	Human	1	name
15183965	CV720802	single nucleotide variant	NM_000508.5(FGA):c.2244T>C (p.Ala748=)	not provided [RCV000886341]	likely benign	4	154584481	154584481	Human		name
15140132	CV748779	single nucleotide variant	NM_021871.4(FGA):c.1155A>G (p.Gln385=)	not provided [RCV000921628]	likely benign	4	154586274	154586274	Human		name
15194913	CV764360	single nucleotide variant	NM_021871.4(FGA):c.1560C>T (p.Phe520=)	Familial visceral amyloidosis, Ostertag type [RCV002502860]\|not provided [RCV000933781]	likely benign	4	154585869	154585869	Human	3	name
38597957	CV963004	single nucleotide variant	NM_021871.4(FGA):c.215G>A (p.Gly72Glu)	Familial visceral amyloidosis, Ostertag type [RCV001251021]	uncertain significance	4	154588942	154588942	Human	1	name
127261260	CV1087153	deletion	NM_000508.5(FGA):c.2155del (p.Gln719fs)	Congenital afibrinogenemia [RCV001420405]	pathogenic	4	154584570	154584570	Human	1	name
127261337	CV1087162	single nucleotide variant	NM_021871.4(FGA):c.829T>C (p.Tyr277His)	Congenital afibrinogenemia [RCV001420438]	uncertain significance	4	154586600	154586600	Human	1	name
150544198	CV1313194	deletion	NM_021871.4(FGA):c.1653del (p.Gly552fs)	not provided [RCV001783272]	pathogenic\|likely pathogenic	4	154585776	154585776	Human		name
151353001	CV1326539	deletion	NM_021871.4(FGA):c.1827del (p.Ser609fs)	not provided [RCV001815936]	likely pathogenic	4	154585602	154585602	Human		name
151356419	CV1329183	single nucleotide variant	NM_021871.4(FGA):c.767A>C (p.Gln256Pro)	not specified [RCV001822772]	uncertain significance	4	154586662	154586662	Human		name
152037518	CV1669131	single nucleotide variant	NM_021871.4(FGA):c.718C>T (p.Gln240Ter)	not provided [RCV002224183]	pathogenic	4	154586711	154586711	Human		name
152981156	CV1676416	deletion	NM_021871.4(FGA):c.1055del (p.Pro352fs)	Afibrinogenemia [RCV002245493]\|Familial visceral amyloidosis, Ostertag type [RCV005032194]\|not provided [RCV004793749]	pathogenic\|likely pathogenic	4	154586374	154586374	Human	4	name
153305742	CV1688780	single nucleotide variant	NM_021871.4(FGA):c.448C>T (p.Gln150Ter)	Congenital afibrinogenemia [RCV005225596]\|Familial dysfibrinogenemia [RCV002266520]	pathogenic	4	154587574	154587574	Human	2	name
155643422	CV1706718	single nucleotide variant	NM_021871.4(FGA):c.475G>A (p.Val159Ile)	Inborn genetic diseases [RCV004047595]\|See cases [RCV004584548]\|not specified [RCV004690285]	uncertain significance	4	154587547	154587547	Human	1	name
155644404	CV1706738	duplication	NM_000508.5(FGA):c.1906dup (p.Leu636fs)	See cases [RCV002287813]	likely pathogenic	4	154584818	154584819	Human		name
155796417	CV1861839	single nucleotide variant	NM_021871.4(FGA):c.341G>A (p.Arg114Lys)	not specified [RCV002470121]	uncertain significance	4	154588816	154588816	Human		name
156158744	CV2262510	single nucleotide variant	NM_021871.4(FGA):c.528G>C (p.Lys176Asn)	Inborn genetic diseases [RCV002827237]	uncertain significance	4	154586901	154586901	Human	1	name
155903666	CV2282271	single nucleotide variant	NM_021871.4(FGA):c.648A>T (p.Arg216Ser)	Inborn genetic diseases [RCV002836881]	uncertain significance	4	154586781	154586781	Human	1	name
156278096	CV2286706	single nucleotide variant	NM_021871.4(FGA):c.784G>A (p.Glu262Lys)	Familial visceral amyloidosis, Ostertag type [RCV005028374]\|Inborn genetic diseases [RCV002832733]\|not provided [RCV003227091]	uncertain significance	4	154586645	154586645	Human	4	name
156353349	CV2327519	single nucleotide variant	NM_021871.4(FGA):c.763C>A (p.Pro255Thr)	Inborn genetic diseases [RCV002940217]	uncertain significance	4	154586666	154586666	Human	1	name
11350919	CV237254	single nucleotide variant	NM_021871.4(FGA):c.923G>A (p.Arg308Gln)	Congenital afibrinogenemia [RCV001148495]\|Familial visceral amyloidosis, Ostertag type [RCV001148496]\|Familial visceral amyloidosis, Ostertag type [RCV002485448]\|not provided [RCV000224629]\|not specified [RCV001818547]	uncertain significance	4	154586506	154586506	Human	3	name
243049478	CV2416854	single nucleotide variant	NM_021871.4(FGA):c.928C>T (p.Pro310Ser)	not specified [RCV003151526]	uncertain significance	4	154586501	154586501	Human		name
329392480	CV2468154	single nucleotide variant	NM_021871.4(FGA):c.839G>A (p.Gly280Glu)	Inborn genetic diseases [RCV003217792]	uncertain significance	4	154586590	154586590	Human	1	name
329363682	CV2471925	single nucleotide variant	NM_021871.4(FGA):c.897C>A (p.Ser299Arg)	Inborn genetic diseases [RCV003206485]	uncertain significance	4	154586532	154586532	Human	1	name
329955068	CV2671008	single nucleotide variant	NM_021871.4(FGA):c.434T>A (p.Val145Asp)	not specified [RCV003236277]	uncertain significance	4	154587588	154587588	Human		name
401780716	CV2685681	single nucleotide variant	NM_021871.4(FGA):c.761T>C (p.Met254Thr)	Familial visceral amyloidosis, Ostertag type [RCV005036717]\|Inborn genetic diseases [RCV003264955]	uncertain significance	4	154586668	154586668	Human	4	name
401734781	CV2737085	deletion	NM_021871.4(FGA):c.1754del (p.Ser585fs)	Familial dysfibrinogenemia [RCV003313877]	likely pathogenic	4	154585675	154585675	Human	1	name
401934839	CV2796281	single nucleotide variant	NM_021871.4(FGA):c.359C>T (p.Ala120Val)	FGA-related disorder [RCV004529737]\|not specified [RCV003994543]	uncertain significance	4	154588798	154588798	Human		name , trait , alternate_id
401907573	CV2801158	single nucleotide variant	NM_021871.4(FGA):c.764C>T (p.Pro255Leu)	FGA-related disorder [RCV004531565]	uncertain significance	4	154586665	154586665	Human		name , trait , alternate_id
401960988	CV2844333	deletion	NM_021871.4(FGA):c.1452del (p.Ser485fs)	Familial visceral amyloidosis, Ostertag type [RCV005036830]\|not provided [RCV003480128]	likely pathogenic	4	154585977	154585977	Human	3	name
404985990	CV2852400	single nucleotide variant	NM_021871.4(FGA):c.908G>A (p.Gly303Glu)	FGA-related disorder [RCV004723339]\|Familial visceral amyloidosis, Ostertag type [RCV005030065]\|Inborn genetic diseases [RCV004978892]\|not specified [RCV003489634]	uncertain significance	4	154586521	154586521	Human	4	name , trait , alternate_id
11585266	CV292513	single nucleotide variant	NM_021871.4(FGA):c.616C>G (p.Gln206Glu)	Congenital afibrinogenemia [RCV000279650]\|FGA-related disorder [RCV004735495]\|Familial visceral amyloidosis, Ostertag type [RCV000371491]	likely benign\|uncertain significance	4	154586813	154586813	Human	2	name , trait , alternate_id
11588492	CV297293	single nucleotide variant	NM_021871.4(FGA):c.919A>G (p.Asn307Asp)	Congenital afibrinogenemia [RCV000360629]\|Familial visceral amyloidosis, Ostertag type [RCV000303506]\|Inborn genetic diseases [RCV002520213]	uncertain significance	4	154586510	154586510	Human	3	name
11583651	CV297303	single nucleotide variant	NM_021871.4(FGA):c.904C>G (p.Pro302Ala)	Congenital afibrinogenemia [RCV000307705]\|Familial visceral amyloidosis, Ostertag type [RCV000268329]\|not provided [RCV000973688]\|not specified [RCV003330651]	benign\|likely benign	4	154586525	154586525	Human	2	name
11652501	CV297307	single nucleotide variant	NM_021871.4(FGA):c.346G>A (p.Asp116Asn)	Congenital afibrinogenemia [RCV000402806]\|Familial visceral amyloidosis, Ostertag type [RCV000305519]\|Familial visceral amyloidosis, Ostertag type [RCV002480211]\|Inborn genetic diseases [RCV002520214]	uncertain significance	4	154588811	154588811	Human	4	name
11656861	CV297353	single nucleotide variant	NM_021871.4(FGA):c.614A>G (p.Glu205Gly)	Congenital afibrinogenemia [RCV000337081]\|Familial visceral amyloidosis, Ostertag type [RCV000375396]	uncertain significance	4	154586815	154586815	Human	2	name
8565600	CV31448	deletion	NM_021871.4(FGA):c.1622del (p.Val541fs)	Familial visceral amyloidosis, Ostertag type [RCV000017870]	pathogenic	4	154585807	154585807	Human	1	name
8565604	CV31452	deletion	NM_021871.4(FGA):c.1629del (p.Thr544fs)	Familial visceral amyloidosis, Ostertag type [RCV000017875]	pathogenic	4	154585800	154585800	Human	1	name
8565608	CV31456	duplication	NM_021871.4(FGA):c.711dup (p.Lys238Ter)	Congenital afibrinogenemia [RCV000017879]	pathogenic	4	154586717	154586718	Human	1	name
8565610	CV31459	single nucleotide variant	NM_021871.4(FGA):c.991A>G (p.Thr331Ala)	Congenital afibrinogenemia [RCV000338448]\|Familial visceral amyloidosis, Ostertag type [RCV000405212]\|Venous thromboembolism, susceptibility to [RCV000017882]\|not provided [RCV001509235]\|not specified [RCV000246757]	risk factor\|benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	154586438	154586438	Human	5	name
8565610	CV31459	single nucleotide variant	NM_021871.4(FGA):c.991A>G (p.Thr331Ala)	Congenital afibrinogenemia [RCV000338448]\|Familial visceral amyloidosis, Ostertag type [RCV000405212]\|Venous thromboembolism, susceptibility to [RCV000017882]\|not provided [RCV001509235]\|not specified [RCV000246757]	risk factor\|benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	154586438	154586439	Human	5	name
405759068	CV3253493	single nucleotide variant	NM_021871.4(FGA):c.553A>G (p.Ser185Gly)	Inborn genetic diseases [RCV004393927]	uncertain significance	4	154586876	154586876	Human	1	name
405759071	CV3253494	single nucleotide variant	NM_021871.4(FGA):c.559G>A (p.Ala187Thr)	Inborn genetic diseases [RCV004393928]	uncertain significance	4	154586870	154586870	Human	1	name
407459931	CV3496952	single nucleotide variant	NM_021871.4(FGA):c.541C>T (p.Arg181Ter)	Familial dysfibrinogenemia [RCV004698766]	likely pathogenic	4	154586888	154586888	Human	1	name
408380770	CV3501265	single nucleotide variant	NM_021871.4(FGA):c.563T>C (p.Leu188Ser)	not provided [RCV004727354]	uncertain significance	4	154586866	154586866	Human		name
408368798	CV3515708	deletion	NM_021871.4(FGA):c.1541del (p.Pro514fs)	FGA-related disorder [RCV004735978]\|Familial visceral amyloidosis, Ostertag type [RCV005023689]	pathogenic	4	154585888	154585888	Human	3	name , trait , alternate_id
596931547	CV3538741	single nucleotide variant	NM_021871.4(FGA):c.389T>C (p.Val130Ala)	not provided [RCV004792867]	uncertain significance	4	154587633	154587633	Human		name
596931550	CV3538742	single nucleotide variant	NM_021871.4(FGA):c.368G>A (p.Arg123His)	not provided [RCV004792868]\|not specified [RCV005241037]	uncertain significance	4	154587654	154587654	Human		name
596928268	CV3540160	deletion	NM_021871.4(FGA):c.1037del (p.Asn346fs)	not provided [RCV004791152]	pathogenic	4	154586392	154586392	Human		name
596926417	CV3542267	deletion	NM_021871.4(FGA):c.1517del (p.Leu506fs)	Familial dysfibrinogenemia [RCV004796482]	likely pathogenic	4	154585912	154585912	Human	1	name
597653283	CV3672539	single nucleotide variant	NM_021871.4(FGA):c.311C>T (p.Ser104Leu)	Inborn genetic diseases [RCV004975032]	uncertain significance	4	154588846	154588846	Human	1	name
597653289	CV3672540	single nucleotide variant	NM_021871.4(FGA):c.832G>A (p.Gly278Arg)	Inborn genetic diseases [RCV004975033]	uncertain significance	4	154586597	154586597	Human	1	name
597653304	CV3672545	single nucleotide variant	NM_021871.4(FGA):c.568C>T (p.Arg190Cys)	Inborn genetic diseases [RCV004975037]	uncertain significance	4	154586861	154586861	Human	1	name
597653309	CV3672548	single nucleotide variant	NM_021871.4(FGA):c.489G>C (p.Leu163Phe)	Inborn genetic diseases [RCV004975040]	uncertain significance	4	154587533	154587533	Human	1	name
597653321	CV3672550	single nucleotide variant	NM_021871.4(FGA):c.632A>G (p.Asp211Gly)	Inborn genetic diseases [RCV004975042]	uncertain significance	4	154586797	154586797	Human	1	name
597654602	CV3721287	single nucleotide variant	NM_021871.4(FGA):c.531C>G (p.Ile177Met)	Familial visceral amyloidosis, Ostertag type [RCV005027263]	uncertain significance	4	154586898	154586898	Human	3	name
597654609	CV3721289	single nucleotide variant	NM_021871.4(FGA):c.428G>A (p.Arg143His)	Familial visceral amyloidosis, Ostertag type [RCV005027264]\|Familial visceral amyloidosis, Ostertag type [RCV005392937]	uncertain significance	4	154587594	154587594	Human	3	name
597654429	CV3724735	deletion	NM_021871.4(FGA):c.1339del (p.Glu447fs)	Familial visceral amyloidosis, Ostertag type [RCV005027245]	likely pathogenic	4	154586090	154586090	Human	3	name
597735726	CV3724744	single nucleotide variant	NM_021871.4(FGA):c.974G>A (p.Ser325Asn)	Familial visceral amyloidosis, Ostertag type [RCV005037514]	uncertain significance	4	154586455	154586455	Human	3	name
597654514	CV3724746	single nucleotide variant	NM_021871.4(FGA):c.896G>A (p.Ser299Asn)	Familial visceral amyloidosis, Ostertag type [RCV005027253]	uncertain significance	4	154586533	154586533	Human	3	name
597654522	CV3724747	single nucleotide variant	NM_021871.4(FGA):c.873T>G (p.Ser291Arg)	Familial visceral amyloidosis, Ostertag type [RCV005027254]	uncertain significance	4	154586556	154586556	Human	3	name
597654530	CV3724748	single nucleotide variant	NM_021871.4(FGA):c.856C>G (p.Pro286Ala)	Familial visceral amyloidosis, Ostertag type [RCV005027255]	uncertain significance	4	154586573	154586573	Human	3	name
597654537	CV3724749	single nucleotide variant	NM_021871.4(FGA):c.838G>A (p.Gly280Arg)	Familial visceral amyloidosis, Ostertag type [RCV005027256]	uncertain significance	4	154586591	154586591	Human	3	name
597735732	CV3724750	single nucleotide variant	NM_021871.4(FGA):c.696G>T (p.Leu232Phe)	Familial visceral amyloidosis, Ostertag type [RCV005037515]	uncertain significance	4	154586733	154586733	Human	3	name
597735740	CV3724751	single nucleotide variant	NM_021871.4(FGA):c.688C>T (p.Pro230Ser)	Familial visceral amyloidosis, Ostertag type [RCV005037516]	uncertain significance	4	154586741	154586741	Human	3	name
597654573	CV3724755	single nucleotide variant	NM_021871.4(FGA):c.607C>T (p.Gln203Ter)	Familial visceral amyloidosis, Ostertag type [RCV005027260]	likely pathogenic	4	154586822	154586822	Human	3	name
597654582	CV3724756	single nucleotide variant	NM_021871.4(FGA):c.569G>A (p.Arg190His)	Familial visceral amyloidosis, Ostertag type [RCV005027261]	uncertain significance	4	154586860	154586860	Human	3	name
597654593	CV3724757	single nucleotide variant	NM_021871.4(FGA):c.533G>A (p.Arg178Gln)	Familial visceral amyloidosis, Ostertag type [RCV005027262]	uncertain significance	4	154586896	154586896	Human	3	name
12858947	CV389197	single nucleotide variant	NM_021871.4(FGA):c.502C>T (p.Arg168Ter)	Congenital afibrinogenemia [RCV000454272]\|Familial visceral amyloidosis, Ostertag type [RCV002502594]\|not provided [RCV001380954]	pathogenic	4	154587520	154587520	Human	3	name
598241058	CV3959361	single nucleotide variant	NM_021871.4(FGA):c.521A>G (p.Asp174Gly)	Inborn genetic diseases [RCV005344280]	uncertain significance	4	154586908	154586908	Human	1	name
598241067	CV3959363	single nucleotide variant	NM_021871.4(FGA):c.335T>A (p.Ile112Asn)	Inborn genetic diseases [RCV005344282]	uncertain significance	4	154588822	154588822	Human	1	name
598271981	CV3959366	single nucleotide variant	NM_021871.4(FGA):c.396G>C (p.Glu132Asp)	Inborn genetic diseases [RCV005327862]	uncertain significance	4	154587626	154587626	Human	1	name
14975989	CV615381	single nucleotide variant	NM_021871.4(FGA):c.922C>T (p.Arg308Ter)	Familial visceral amyloidosis, Ostertag type [RCV002500996]\|Hypofibrinogenemia [RCV000852248]\|not provided [RCV001784377]	pathogenic\|likely pathogenic	4	154586507	154586507	Human	4	name
14693735	CV620152	deletion	NM_021871.4(FGA):c.1103del (p.Gly368fs)	FGA-related disorder [RCV000779433]	uncertain significance	4	154586326	154586326	Human		name , trait , alternate_id
14689304	CV620153	single nucleotide variant	NM_021871.4(FGA):c.532C>T (p.Arg178Ter)	FGA-related disorder [RCV000779434]\|Familial visceral amyloidosis, Ostertag type [RCV002487602]\|Familial visceral amyloidosis, Ostertag type [RCV005392377]	pathogenic\|likely pathogenic	4	154586897	154586897	Human	3	name , trait , alternate_id
15174256	CV789247	single nucleotide variant	NM_021871.4(FGA):c.811C>T (p.Arg271Ter)	Congenital afibrinogenemia [RCV000984799]	pathogenic	4	154586618	154586618	Human	1	name
25317832	CV805385	deletion	NM_021871.4(FGA):c.1113del (p.His372fs)	not provided [RCV001008260]	likely pathogenic	4	154586316	154586316	Human		name
127261255	CV1087151	single nucleotide variant	NM_000508.5(FGA):c.2527T>C (p.Trp843Arg)	Congenital afibrinogenemia [RCV001420403]	uncertain significance	4	154584198	154584198	Human	1	name
127261258	CV1087152	single nucleotide variant	NM_000508.5(FGA):c.2372A>T (p.Asp791Val)	Congenital afibrinogenemia [RCV001420404]	uncertain significance	4	154584353	154584353	Human	1	name
127261261	CV1087154	single nucleotide variant	NM_000508.5(FGA):c.2128G>A (p.Gly710Ser)	Congenital afibrinogenemia [RCV001420406]	uncertain significance	4	154584597	154584597	Human	1	name
127261262	CV1087155	single nucleotide variant	NM_000508.5(FGA):c.2024T>G (p.Ile675Ser)	Congenital afibrinogenemia [RCV001420407]	uncertain significance	4	154584701	154584701	Human	1	name
127261265	CV1087156	single nucleotide variant	NM_000508.5(FGA):c.2024T>C (p.Ile675Thr)	Congenital afibrinogenemia [RCV001420408]	uncertain significance	4	154584701	154584701	Human	1	name
127261268	CV1087157	single nucleotide variant	NM_000508.5(FGA):c.2021T>C (p.Leu674Ser)	Congenital afibrinogenemia [RCV001420409]	uncertain significance	4	154584704	154584704	Human	1	name
127261270	CV1087158	single nucleotide variant	NM_021871.4(FGA):c.1930C>G (p.Pro644Ala)	Congenital afibrinogenemia [RCV001420410]	uncertain significance	4	154585499	154585499	Human	1	name
127261272	CV1087159	single nucleotide variant	NM_021871.4(FGA):c.1915A>G (p.Lys639Glu)	Congenital afibrinogenemia [RCV001420411]\|Familial visceral amyloidosis, Ostertag type [RCV005038215]	uncertain significance	4	154585514	154585514	Human	3	name
127261331	CV1087160	single nucleotide variant	NM_021871.4(FGA):c.1470C>G (p.Asp490Glu)	Congenital afibrinogenemia [RCV001420436]\|Familial visceral amyloidosis, Ostertag type [RCV005023162]	uncertain significance	4	154585959	154585959	Human	3	name
127261334	CV1087161	single nucleotide variant	NM_021871.4(FGA):c.1463G>A (p.Gly488Asp)	Congenital afibrinogenemia [RCV001420437]\|Familial visceral amyloidosis, Ostertag type [RCV005038216]	uncertain significance	4	154585966	154585966	Human	3	name
150335183	CV1164237	single nucleotide variant	NM_021871.4(FGA):c.1001G>A (p.Trp334Ter)	not provided [RCV001530145]	pathogenic	4	154586428	154586428	Human		name
150546997	CV1291827	single nucleotide variant	NM_000508.5(FGA):c.2350C>T (p.Gln784Ter)	Familial visceral amyloidosis, Ostertag type [RCV001733514]\|Familial visceral amyloidosis, Ostertag type [RCV002506755]	uncertain significance	4	154584375	154584375	Human	3	name
150550391	CV1300222	single nucleotide variant	NM_000508.5(FGA):c.2414G>C (p.Gly805Ala)	not provided [RCV001765692]	uncertain significance	4	154584311	154584311	Human		name
151356079	CV1328843	single nucleotide variant	NM_021871.4(FGA):c.1373G>A (p.Arg458His)	not specified [RCV001822432]	uncertain significance	4	154586056	154586056	Human		name
151356145	CV1328909	single nucleotide variant	NM_021871.4(FGA):c.1406T>G (p.Val469Gly)	not specified [RCV001822498]	uncertain significance	4	154586023	154586023	Human		name
152981082	CV1676358	single nucleotide variant	NM_021871.4(FGA):c.1486G>T (p.Asp496Tyr)	Afibrinogenemia [RCV002245435]	uncertain significance	4	154585943	154585943	Human	2	name
152981391	CV1676769	single nucleotide variant	NM_000508.5(FGA):c.2113G>T (p.Gly705Ter)	not specified [RCV002247834]	uncertain significance	4	154584612	154584612	Human		name
155267363	CV1699572	single nucleotide variant	NM_021871.4(FGA):c.1119G>A (p.Trp373Ter)	Familial dysfibrinogenemia [RCV002283365]	likely pathogenic	4	154586310	154586310	Human	1	name
155643384	CV1706698	single nucleotide variant	NM_021871.4(FGA):c.1048G>A (p.Gly350Arg)	Inborn genetic diseases [RCV003097731]\|See cases [RCV004584540]	uncertain significance	4	154586381	154586381	Human	1	name
155645021	CV1708082	single nucleotide variant	NM_021871.4(FGA):c.1120A>G (p.Thr374Ala)	Familial visceral amyloidosis, Ostertag type [RCV002290070]	uncertain significance	4	154586309	154586309	Human	1	name
156398503	CV2194606	single nucleotide variant	NM_000508.5(FGA):c.2323G>A (p.Ala775Thr)	Inborn genetic diseases [RCV002655590]	likely benign	4	154584402	154584402	Human	1	name
156002404	CV2257957	single nucleotide variant	NM_000508.5(FGA):c.2492A>G (p.Asn831Ser)	Inborn genetic diseases [RCV002794630]	uncertain significance	4	154584233	154584233	Human	1	name
156281786	CV2288772	single nucleotide variant	NM_021871.4(FGA):c.1474C>T (p.Pro492Ser)	Inborn genetic diseases [RCV002878246]	uncertain significance	4	154585955	154585955	Human	1	name
155906253	CV2303279	single nucleotide variant	NM_021871.4(FGA):c.1058G>C (p.Arg353Thr)	Inborn genetic diseases [RCV002901841]	uncertain significance	4	154586371	154586371	Human	1	name
156176414	CV2317452	single nucleotide variant	NM_000508.5(FGA):c.2159G>C (p.Arg720Thr)	Inborn genetic diseases [RCV002916861]	uncertain significance	4	154584566	154584566	Human	1	name
156341485	CV2368414	single nucleotide variant	NM_021871.4(FGA):c.1082A>G (p.Asn361Ser)	Inborn genetic diseases [RCV002674485]	uncertain significance	4	154586347	154586347	Human	1	name
155936050	CV2379760	single nucleotide variant	NM_000508.5(FGA):c.2340C>A (p.His780Gln)	Inborn genetic diseases [RCV002684893]	uncertain significance	4	154584385	154584385	Human	1	name
243058997	CV2410059	single nucleotide variant	NM_021871.4(FGA):c.1880G>A (p.Arg627His)	not provided [RCV003147233]	uncertain significance	4	154585549	154585549	Human		name
329349829	CV2447911	single nucleotide variant	NM_000508.5(FGA):c.2007G>T (p.Leu669Phe)	Inborn genetic diseases [RCV003192050]	uncertain significance	4	154584718	154584718	Human	1	name
329350040	CV2448197	single nucleotide variant	NM_000508.5(FGA):c.2018T>C (p.Leu673Pro)	Inborn genetic diseases [RCV003202225]	uncertain significance	4	154584707	154584707	Human	1	name
329350220	CV2461216	single nucleotide variant	NM_000508.5(FGA):c.2293G>A (p.Ala765Thr)	Inborn genetic diseases [RCV003209142]	uncertain significance	4	154584432	154584432	Human	1	name
401743588	CV2679917	single nucleotide variant	NM_000508.5(FGA):c.2051A>C (p.Asn684Thr)	Inborn genetic diseases [RCV003239884]	uncertain significance	4	154584674	154584674	Human	1	name
401781298	CV2726484	single nucleotide variant	NM_021871.4(FGA):c.1808T>A (p.Met603Lys)	Inborn genetic diseases [RCV003308530]	uncertain significance	4	154585621	154585621	Human	1	name
401887825	CV2768787	single nucleotide variant	NM_021871.4(FGA):c.1606A>G (p.Met536Val)	Inborn genetic diseases [RCV003352623]	uncertain significance	4	154585823	154585823	Human	1	name
401857686	CV2770103	single nucleotide variant	NM_000508.5(FGA):c.2314G>A (p.Glu772Lys)	Inborn genetic diseases [RCV003360246]	uncertain significance	4	154584411	154584411	Human	1	name
401859033	CV2782787	single nucleotide variant	NM_000508.5(FGA):c.2149C>A (p.Leu717Ile)	Inborn genetic diseases [RCV003379605]	uncertain significance	4	154584576	154584576	Human	1	name
401902904	CV2796659	single nucleotide variant	NM_000508.5(FGA):c.2545G>T (p.Ala849Ser)	FGA-related disorder [RCV004527947]	uncertain significance	4	154584180	154584180	Human		name , trait , alternate_id
401927213	CV2796953	single nucleotide variant	NM_021871.4(FGA):c.1330A>G (p.Thr444Ala)	FGA-related disorder [RCV004531599]	uncertain significance	4	154586099	154586099	Human		name , trait , alternate_id
401902635	CV2797926	single nucleotide variant	NM_000508.5(FGA):c.1898A>C (p.Asp633Ala)	FGA-related disorder [RCV004534363]	uncertain significance	4	154584827	154584827	Human		name , trait , alternate_id
401904325	CV2798039	single nucleotide variant	NM_000508.5(FGA):c.2186A>C (p.Glu729Ala)	FGA-related disorder [RCV004534382]	uncertain significance	4	154584539	154584539	Human		name , trait , alternate_id
401903412	CV2802988	single nucleotide variant	NM_000508.5(FGA):c.2060G>A (p.Arg687Gln)	FGA-related disorder [RCV004529770]	uncertain significance	4	154584665	154584665	Human		name , trait , alternate_id
401905849	CV2804648	single nucleotide variant	NM_021871.4(FGA):c.1895T>A (p.Ile632Asn)	FGA-related disorder [RCV004534420]	uncertain significance	4	154585534	154585534	Human		name , trait , alternate_id
11588070	CV293932	single nucleotide variant	NM_021871.4(FGA):c.1199C>T (p.Ser400Phe)	Congenital afibrinogenemia [RCV000299895]\|Familial visceral amyloidosis, Ostertag type [RCV000404272]\|Familial visceral amyloidosis, Ostertag type [RCV002488763]	benign\|likely benign	4	154586230	154586230	Human	3	name
11593621	CV297256	single nucleotide variant	NM_021871.4(FGA):c.1444G>A (p.Val482Met)	Congenital afibrinogenemia [RCV000388685]\|Familial visceral amyloidosis, Ostertag type [RCV000350523]\|Familial visceral amyloidosis, Ostertag type [RCV002502338]\|Inborn genetic diseases [RCV004975472]	likely benign\|uncertain significance	4	154585985	154585985	Human	4	name
11587649	CV297269	single nucleotide variant	NM_021871.4(FGA):c.1417G>A (p.Asp473Asn)	Congenital afibrinogenemia [RCV000296696]\|Familial visceral amyloidosis, Ostertag type [RCV000334967]\|Familial visceral amyloidosis, Ostertag type [RCV005027458]\|Inborn genetic diseases [RCV002520212]\|not provided [RCV001702008]\|not specified [RCV005055916]	benign\|uncertain significance	4	154586012	154586012	Human	4	name
11590908	CV297337	single nucleotide variant	NM_021871.4(FGA):c.1838A>G (p.His613Arg)	Congenital afibrinogenemia [RCV000381748]\|Familial visceral amyloidosis, Ostertag type [RCV000323812]\|Familial visceral amyloidosis, Ostertag type [RCV005027456]\|Inborn genetic diseases [RCV004021942]	benign\|likely benign\|uncertain significance	4	154585591	154585591	Human	4	name
11584011	CV297349	single nucleotide variant	NM_021871.4(FGA):c.1823G>C (p.Gly608Ala)	Congenital afibrinogenemia [RCV000328375]\|Familial visceral amyloidosis, Ostertag type [RCV000270905]\|Familial visceral amyloidosis, Ostertag type [RCV005027457]\|Inborn genetic diseases [RCV002520211]	likely benign\|uncertain significance	4	154585606	154585606	Human	4	name
8565596	CV31444	single nucleotide variant	NM_000508.3(FGA):c.1358G>A (p.Ser453Asn)	FIBRINOGEN CARACAS 2 [RCV000017865]\|not provided [RCV001508522]	uncertain significance\|other	4	154586071	154586071	Human	1	name
8565598	CV31446	single nucleotide variant	NM_000508.3(FGA):c.1438A>T (p.Lys480Ter)	FIBRINOGEN MARBURG [RCV000017867]	pathogenic\|other	4	154585991	154585991	Human		name
8565599	CV31447	single nucleotide variant	NM_021871.4(FGA):c.1718G>T (p.Arg573Leu)	FGA-related disorder [RCV004528118]\|Familial visceral amyloidosis, Ostertag type [RCV000017869]\|not provided [RCV001753419]	pathogenic\|likely pathogenic\|uncertain significance	4	154585711	154585711	Human	1	name , trait , alternate_id
8565601	CV31449	single nucleotide variant	NM_021871.4(FGA):c.1634A>T (p.Glu545Val)	Familial visceral amyloidosis, Ostertag type [RCV000017871]\|Familial visceral amyloidosis, Ostertag type [RCV002490381]\|not provided [RCV003480033]	pathogenic	4	154585795	154585795	Human	3	name
8565602	CV31450	single nucleotide variant	NM_000508.3(FGA):c.1717C>T (p.Arg573Cys)	Deep venous thrombosis [RCV002222001]\|FIBRINOGEN DUSART [RCV000017872]\|Familial visceral amyloidosis, Ostertag type [RCV002490382]	likely pathogenic\|other	4	154585712	154585712	Human	5	name
8565609	CV31457	single nucleotide variant	NM_000508.3(FGA):c.1039C>T (p.Gln347Ter)	FIBRINOGEN KEOKUK [RCV000017880]	other	4	154586390	154586390	Human		name
405273633	CV3210242	single nucleotide variant	NM_000508.5(FGA):c.2185G>C (p.Glu729Gln)	FGA-related disorder [RCV004539472]	likely benign	4	154584540	154584540	Human		name , trait , alternate_id
405694736	CV3226513	single nucleotide variant	NM_021871.4(FGA):c.1021A>C (p.Thr341Pro)	not provided [RCV003992906]	uncertain significance	4	154586408	154586408	Human		name
405759011	CV3253483	single nucleotide variant	NM_021871.4(FGA):c.1010G>A (p.Gly337Glu)	Inborn genetic diseases [RCV004393917]	uncertain significance	4	154586419	154586419	Human	1	name
405759016	CV3253484	single nucleotide variant	NM_021871.4(FGA):c.1061C>G (p.Pro354Arg)	Inborn genetic diseases [RCV004393918]	uncertain significance	4	154586368	154586368	Human	1	name
405759022	CV3253485	single nucleotide variant	NM_021871.4(FGA):c.1408A>G (p.Ile470Val)	Inborn genetic diseases [RCV004393919]	uncertain significance	4	154586021	154586021	Human	1	name
405759028	CV3253486	single nucleotide variant	NM_021871.4(FGA):c.1535G>T (p.Arg512Met)	Inborn genetic diseases [RCV004393920]	uncertain significance	4	154585894	154585894	Human	1	name
405759034	CV3253487	single nucleotide variant	NM_021871.4(FGA):c.1607T>C (p.Met536Thr)	Inborn genetic diseases [RCV004393921]	uncertain significance	4	154585822	154585822	Human	1	name
405759050	CV3253490	single nucleotide variant	NM_000508.5(FGA):c.2177T>C (p.Val726Ala)	Inborn genetic diseases [RCV004393924]	uncertain significance	4	154584548	154584548	Human	1	name
405759056	CV3253491	single nucleotide variant	NM_000508.5(FGA):c.2393A>C (p.Asn798Thr)	Inborn genetic diseases [RCV004393925]	uncertain significance	4	154584332	154584332	Human	1	name
405759062	CV3253492	single nucleotide variant	NM_000508.5(FGA):c.2439A>C (p.Gln813His)	Inborn genetic diseases [RCV004393926]	uncertain significance	4	154584286	154584286	Human	1	name
407501214	CV3439067	single nucleotide variant	NM_021871.4(FGA):c.1858A>G (p.Lys620Glu)	Familial visceral amyloidosis, Ostertag type [RCV005023603]\|Inborn genetic diseases [RCV004623209]	uncertain significance	4	154585571	154585571	Human	4	name
407475623	CV3494743	single nucleotide variant	NM_021871.4(FGA):c.1300G>C (p.Val434Leu)	not specified [RCV004690642]	uncertain significance	4	154586129	154586129	Human		name
407573266	CV3499068	single nucleotide variant	NM_021871.4(FGA):c.1541C>G (p.Pro514Arg)	not specified [RCV004700039]	uncertain significance	4	154585888	154585888	Human		name
408379639	CV3507047	single nucleotide variant	NM_021871.4(FGA):c.1179T>A (p.Phe393Leu)	FGA-related disorder [RCV004728504]	uncertain significance	4	154586250	154586250	Human		name , trait , alternate_id
408368734	CV3515186	single nucleotide variant	NM_021871.4(FGA):c.1529G>A (p.Arg510His)	FGA-related disorder [RCV004735446]\|Familial visceral amyloidosis, Ostertag type [RCV005023687]	uncertain significance	4	154585900	154585900	Human	3	name , trait , alternate_id
408378320	CV3517336	single nucleotide variant	NM_000508.5(FGA):c.1904T>C (p.Val635Ala)	FGA-related disorder [RCV004736098]	uncertain significance	4	154584821	154584821	Human		name , trait , alternate_id
408378336	CV3517832	single nucleotide variant	NM_000508.5(FGA):c.2234G>A (p.Gly745Asp)	FGA-related disorder [RCV004736139]	uncertain significance	4	154584491	154584491	Human		name , trait , alternate_id
408382535	CV3525681	single nucleotide variant	NM_021871.4(FGA):c.1700T>G (p.Ile567Arg)	not specified [RCV004766591]	uncertain significance	4	154585729	154585729	Human		name
408385793	CV3528684	single nucleotide variant	NM_021871.4(FGA):c.1904C>A (p.Ser635Tyr)	not provided [RCV004772517]	uncertain significance	4	154585525	154585525	Human		name
596931542	CV3538739	single nucleotide variant	NM_021871.4(FGA):c.1456G>A (p.Glu486Lys)	not provided [RCV004792865]	uncertain significance	4	154585973	154585973	Human		name
596931545	CV3538740	single nucleotide variant	NM_021871.4(FGA):c.1121C>A (p.Thr374Asn)	not provided [RCV004792866]	uncertain significance	4	154586308	154586308	Human		name
596928265	CV3540159	duplication	NM_021871.4(FGA):c.1736dup (p.Tyr579Ter)	Familial visceral amyloidosis, Ostertag type [RCV005038838]\|not provided [RCV004791151]	likely pathogenic	4	154585692	154585693	Human	3	name
597653295	CV3672542	single nucleotide variant	NM_021871.4(FGA):c.1775G>T (p.Gly592Val)	Inborn genetic diseases [RCV004975034]	uncertain significance	4	154585654	154585654	Human	1	name
597653300	CV3672543	single nucleotide variant	NM_021871.4(FGA):c.1052G>T (p.Ser351Ile)	Inborn genetic diseases [RCV004975035]	uncertain significance	4	154586377	154586377	Human	1	name
597699708	CV3672544	single nucleotide variant	NM_000508.5(FGA):c.2273A>G (p.Tyr758Cys)	Inborn genetic diseases [RCV004975036]	uncertain significance	4	154584452	154584452	Human	1	name
597699717	CV3672546	single nucleotide variant	NM_000508.5(FGA):c.2430T>A (p.Asn810Lys)	Inborn genetic diseases [RCV004975038]	uncertain significance	4	154584295	154584295	Human	1	name
597699723	CV3672547	single nucleotide variant	NM_000508.5(FGA):c.2275G>A (p.Glu759Lys)	Inborn genetic diseases [RCV004975039]	uncertain significance	4	154584450	154584450	Human	1	name
597653314	CV3672549	single nucleotide variant	NM_021871.4(FGA):c.1109C>T (p.Ala370Val)	Inborn genetic diseases [RCV004975041]	uncertain significance	4	154586320	154586320	Human	1	name
597699730	CV3672551	single nucleotide variant	NM_000508.5(FGA):c.2063C>T (p.Thr688Ile)	Inborn genetic diseases [RCV004975043]	uncertain significance	4	154584662	154584662	Human	1	name
597653326	CV3672553	single nucleotide variant	NM_021871.4(FGA):c.1846A>T (p.Thr616Ser)	Inborn genetic diseases [RCV004975044]	uncertain significance	4	154585583	154585583	Human	1	name
597735677	CV3724715	single nucleotide variant	NM_021871.4(FGA):c.1925T>C (p.Leu642Pro)	Familial visceral amyloidosis, Ostertag type [RCV005037506]	uncertain significance	4	154585504	154585504	Human	3	name
597654299	CV3724717	single nucleotide variant	NM_021871.4(FGA):c.1875A>C (p.Lys625Asn)	Familial visceral amyloidosis, Ostertag type [RCV005027232]	uncertain significance	4	154585554	154585554	Human	3	name
597654311	CV3724718	single nucleotide variant	NM_021871.4(FGA):c.1868A>G (p.His623Arg)	Familial visceral amyloidosis, Ostertag type [RCV005027233]	uncertain significance	4	154585561	154585561	Human	3	name
597654320	CV3724719	single nucleotide variant	NM_021871.4(FGA):c.1832C>T (p.Ala611Val)	Familial visceral amyloidosis, Ostertag type [RCV005027234]	uncertain significance	4	154585597	154585597	Human	3	name
597654330	CV3724720	single nucleotide variant	NM_021871.4(FGA):c.1827T>A (p.Ser609Arg)	Familial visceral amyloidosis, Ostertag type [RCV005027235]	uncertain significance	4	154585602	154585602	Human	3	name
597654340	CV3724721	single nucleotide variant	NM_021871.4(FGA):c.1784C>T (p.Thr595Ile)	Familial visceral amyloidosis, Ostertag type [RCV005027236]	uncertain significance	4	154585645	154585645	Human	3	name
597654347	CV3724722	single nucleotide variant	NM_021871.4(FGA):c.1717C>G (p.Arg573Gly)	Familial visceral amyloidosis, Ostertag type [RCV005027237]	uncertain significance	4	154585712	154585712	Human	3	name
597654357	CV3724723	single nucleotide variant	NM_021871.4(FGA):c.1673A>G (p.Lys558Arg)	Familial visceral amyloidosis, Ostertag type [RCV005027238]	uncertain significance	4	154585756	154585756	Human	3	name
597654365	CV3724724	single nucleotide variant	NM_021871.4(FGA):c.1670C>G (p.Thr557Arg)	Familial visceral amyloidosis, Ostertag type [RCV005027239]	uncertain significance	4	154585759	154585759	Human	3	name
597654375	CV3724725	single nucleotide variant	NM_021871.4(FGA):c.1643G>A (p.Gly548Asp)	Familial visceral amyloidosis, Ostertag type [RCV005027240]	uncertain significance	4	154585786	154585786	Human	3	name
597735690	CV3724726	single nucleotide variant	NM_021871.4(FGA):c.1633G>A (p.Glu545Lys)	Familial visceral amyloidosis, Ostertag type [RCV005037508]\|Familial visceral amyloidosis, Ostertag type [RCV005392936]	uncertain significance	4	154585796	154585796	Human	3	name
597735696	CV3724727	single nucleotide variant	NM_021871.4(FGA):c.1631C>T (p.Thr544Ile)	Familial visceral amyloidosis, Ostertag type [RCV005037509]	uncertain significance	4	154585798	154585798	Human	3	name
597654386	CV3724728	single nucleotide variant	NM_021871.4(FGA):c.1603C>T (p.Pro535Ser)	Familial visceral amyloidosis, Ostertag type [RCV005027241]	uncertain significance	4	154585826	154585826	Human	3	name
597735702	CV3724729	single nucleotide variant	NM_021871.4(FGA):c.1553C>G (p.Ala518Gly)	Familial visceral amyloidosis, Ostertag type [RCV005037510]	uncertain significance	4	154585876	154585876	Human	3	name
597654399	CV3724732	single nucleotide variant	NM_021871.4(FGA):c.1426A>G (p.Lys476Glu)	Familial visceral amyloidosis, Ostertag type [RCV005027242]	uncertain significance	4	154586003	154586003	Human	3	name
597654410	CV3724733	single nucleotide variant	NM_021871.4(FGA):c.1419T>A (p.Asp473Glu)	Familial visceral amyloidosis, Ostertag type [RCV005027243]	uncertain significance	4	154586010	154586010	Human	3	name
597654419	CV3724734	single nucleotide variant	NM_021871.4(FGA):c.1367C>T (p.Thr456Ile)	Familial visceral amyloidosis, Ostertag type [RCV005027244]	uncertain significance	4	154586062	154586062	Human	3	name
597654445	CV3724736	single nucleotide variant	NM_021871.4(FGA):c.1339G>C (p.Glu447Gln)	Familial visceral amyloidosis, Ostertag type [RCV005027246]	uncertain significance	4	154586090	154586090	Human	3	name
597735708	CV3724737	single nucleotide variant	NM_021871.4(FGA):c.1247T>C (p.Val416Ala)	Familial visceral amyloidosis, Ostertag type [RCV005037511]	uncertain significance	4	154586182	154586182	Human	3	name
597654468	CV3724738	single nucleotide variant	NM_021871.4(FGA):c.1169C>A (p.Ser390Tyr)	Familial visceral amyloidosis, Ostertag type [RCV005027248]	uncertain significance	4	154586260	154586260	Human	3	name
597654479	CV3724739	single nucleotide variant	NM_021871.4(FGA):c.1117T>C (p.Trp373Arg)	Familial visceral amyloidosis, Ostertag type [RCV005027249]	uncertain significance	4	154586312	154586312	Human	3	name
597735715	CV3724740	single nucleotide variant	NM_021871.4(FGA):c.1106G>A (p.Ser369Asn)	Familial visceral amyloidosis, Ostertag type [RCV005037512]	uncertain significance	4	154586323	154586323	Human	3	name
597654487	CV3724741	single nucleotide variant	NM_021871.4(FGA):c.1103G>A (p.Gly368Glu)	Familial visceral amyloidosis, Ostertag type [RCV005027250]	uncertain significance	4	154586326	154586326	Human	3	name
597654494	CV3724742	single nucleotide variant	NM_021871.4(FGA):c.1102G>A (p.Gly368Arg)	Familial visceral amyloidosis, Ostertag type [RCV005027251]	uncertain significance	4	154586327	154586327	Human	3	name
597735720	CV3724743	single nucleotide variant	NM_021871.4(FGA):c.1099C>T (p.Arg367Cys)	Familial visceral amyloidosis, Ostertag type [RCV005037513]	uncertain significance	4	154586330	154586330	Human	3	name
598126775	CV3882231	single nucleotide variant	NM_021871.4(FGA):c.1381T>A (p.Cys461Ser)	not provided [RCV005233782]	uncertain significance	4	154586048	154586048	Human		name
598221314	CV3891918	single nucleotide variant	NM_021871.4(FGA):c.1324C>A (p.Leu442Ile)	Familial dysfibrinogenemia [RCV005253256]	uncertain significance	4	154586105	154586105	Human	1	name
598225427	CV3892362	single nucleotide variant	NM_021871.4(FGA):c.1262G>T (p.Ser421Ile)	Familial dysfibrinogenemia [RCV005254197]	uncertain significance	4	154586167	154586167	Human	1	name
598241063	CV3959362	single nucleotide variant	NM_021871.4(FGA):c.1341G>C (p.Glu447Asp)	Inborn genetic diseases [RCV005344281]	uncertain significance	4	154586088	154586088	Human	1	name
598241072	CV3959364	single nucleotide variant	NM_000508.5(FGA):c.2008G>A (p.Gly670Arg)	Inborn genetic diseases [RCV005344283]	uncertain significance	4	154584717	154584717	Human	1	name
598241077	CV3959365	single nucleotide variant	NM_021871.4(FGA):c.1425C>G (p.His475Gln)	Inborn genetic diseases [RCV005344284]	uncertain significance	4	154586004	154586004	Human	1	name
616934176	CV4012099	single nucleotide variant	NM_021871.4(FGA):c.1130G>A (p.Ser377Asn)	not specified [RCV005409133]	uncertain significance	4	154586299	154586299	Human		name
13613239	CV514266	single nucleotide variant	NM_000508.5(FGA):c.2089G>A (p.Gly697Ser)	AFib amyloidosis [RCV000627058]\|FGA-related disorder [RCV004527690]\|Inborn genetic diseases [RCV005338267]	uncertain significance	4	154584636	154584636	Human	2	name , trait , alternate_id
13832043	CV582538	single nucleotide variant	NM_000508.5(FGA):c.2153C>A (p.Thr718Asn)	not provided [RCV000722728]	uncertain significance	4	154584572	154584572	Human		name
13832289	CV582783	single nucleotide variant	NM_000508.5(FGA):c.2434T>C (p.Cys812Arg)	not provided [RCV000722976]	uncertain significance	4	154584291	154584291	Human		name
14975812	CV615379	single nucleotide variant	NM_021871.4(FGA):c.1472G>A (p.Cys491Tyr)	Hypofibrinogenemia [RCV000852035]	likely pathogenic	4	154585957	154585957	Human	2	name
15017059	CV681806	single nucleotide variant	NM_021871.4(FGA):c.1760C>G (p.Thr587Arg)	Familial visceral amyloidosis, Ostertag type [RCV000855410]	uncertain significance	4	154585669	154585669	Human	1	name
15133562	CV709203	single nucleotide variant	NM_021871.4(FGA):c.1366A>G (p.Thr456Ala)	Abnormal bleeding [RCV001270514]\|Congenital afibrinogenemia [RCV001145722]\|FGA-related disorder [RCV004535938]\|Familial visceral amyloidosis, Ostertag type [RCV001145723]\|not provided [RCV000964973]\|not specified [RCV003987750]	benign\|likely benign\|uncertain significance	4	154586063	154586063	Human	6	name , trait , alternate_id
21071341	CV790443	single nucleotide variant	NM_021871.4(FGA):c.1621G>C (p.Val541Leu)	Familial visceral amyloidosis, Ostertag type [RCV000987481]	uncertain significance	4	154585808	154585808	Human	1	name
28882428	CV890262	single nucleotide variant	NM_021871.4(FGA):c.1918C>G (p.Pro640Ala)	Congenital afibrinogenemia [RCV001149941]\|Familial visceral amyloidosis, Ostertag type [RCV001149942]\|Familial visceral amyloidosis, Ostertag type [RCV005029729]\|Inborn genetic diseases [RCV005340647]	benign\|uncertain significance	4	154585511	154585511	Human	4	name
28882434	CV890263	single nucleotide variant	NM_021871.4(FGA):c.1912G>A (p.Gly638Arg)	Congenital afibrinogenemia [RCV001149944]\|Familial visceral amyloidosis, Ostertag type [RCV001149943]	benign\|uncertain significance	4	154585517	154585517	Human	2	name
28870792	CV890264	single nucleotide variant	NM_021871.4(FGA):c.1718G>A (p.Arg573His)	Congenital afibrinogenemia [RCV001145522]\|Familial visceral amyloidosis, Ostertag type [RCV001145521]\|Familial visceral amyloidosis, Ostertag type [RCV005036415]	benign\|uncertain significance	4	154585711	154585711	Human	3	name
28871183	CV890265	single nucleotide variant	NM_021871.4(FGA):c.1207G>A (p.Ala403Thr)	Congenital afibrinogenemia [RCV001145724]\|Familial visceral amyloidosis, Ostertag type [RCV001145725]	uncertain significance	4	154586222	154586222	Human	2	name
28871186	CV890266	single nucleotide variant	NM_021871.4(FGA):c.1072G>A (p.Gly358Arg)	Congenital afibrinogenemia [RCV001145727]\|Familial visceral amyloidosis, Ostertag type [RCV001145726]\|Inborn genetic diseases [RCV002557120]\|not provided [RCV001772340]	benign\|uncertain significance	4	154586357	154586357	Human	3	name
28877879	CV890267	single nucleotide variant	NM_021871.4(FGA):c.1025G>A (p.Gly342Glu)	Congenital afibrinogenemia [RCV001148494]\|Familial visceral amyloidosis, Ostertag type [RCV001148493]	uncertain significance	4	154586404	154586404	Human	2	name
38469526	CV921210	single nucleotide variant	NM_021871.4(FGA):c.1615G>A (p.Glu539Lys)	Familial visceral amyloidosis, Ostertag type [RCV001200879]	uncertain significance	4	154585814	154585814	Human	1	name
150530728	CV1293490	deletion	NM_021871.4(FGA):c.431_432del (p.Lys144fs)	Congenital afibrinogenemia [RCV002222072]\|FGA-related disorder [RCV004734253]\|not provided [RCV001756711]	pathogenic\|likely pathogenic\|uncertain significance	4	154587590	154587591	Human	1	name , trait , alternate_id
155741812	CV1770588	deletion	NM_021871.4(FGA):c.675_676del (p.Lys225fs)	Hepatocellular carcinoma [RCV002302813]	pathogenic	4	154586753	154586754	Human	1	name
597654622	CV3721290	deletion	NM_021871.4(FGA):c.294_296del (p.Asn99del)	Familial visceral amyloidosis, Ostertag type [RCV005027265]	likely pathogenic	4	154588861	154588863	Human	3	name
25319238	CV805386	deletion	NM_021871.4(FGA):c.327_337del (p.Met110fs)	not provided [RCV001008940]	pathogenic	4	154588820	154588830	Human		name
155678849	CV1770606	microsatellite	NM_000508.5(FGA):c.1898ATG[1] (p.Asp634del)	Hepatocellular carcinoma [RCV002302831]	pathogenic	4	154584822	154584824	Human		name
151349690	CV1324450	duplication	NM_021871.4(FGA):c.1690_1699dup (p.Ile567fs)	Familial visceral amyloidosis, Ostertag type [RCV001808895]	likely pathogenic	4	154585729	154585730	Human	1	name
155959404	CV1936447	deletion	NM_021871.4(FGA):c.1670_1673del (p.Thr557fs)	not provided [RCV002512263]	pathogenic	4	154585756	154585759	Human		name
401937743	CV2796922	deletion	NM_021871.4(FGA):c.1483_1495del (p.Met495fs)	FGA-related disorder [RCV004528651]	pathogenic	4	154585934	154585946	Human		name , trait , alternate_id
408382568	CV3503461	deletion	NM_021871.4(FGA):c.161_166del (p.Phe54_Cys55del)	FGA-related disorder [RCV004729993]	uncertain significance	4	154589451	154589456	Human		name , trait , alternate_id
21071340	CV790442	deletion	NM_000508.5(FGA):c.2587del (p.Leu863_Val864insTer)	Familial visceral amyloidosis, Ostertag type [RCV000987480]	benign	4	154584138	154584138	Human	1	name
155678846	CV1770467	deletion	NM_000508.5(FGA):c.2431_2442del (p.Asn811_Ala814del)	Hepatocellular carcinoma [RCV002302691]	pathogenic	4	154584283	154584294	Human	1	name

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