Total 52 pathogenic variants reported for Congenital afibrinogenemia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
FIBRINOGEN PARIS 1 SNV
Germline		 Chr4:154606073 Conflicting classifications of pathogenicity FIBRINOGEN PARIS 1
Congenital afibrinogenemia
FGG-related disorder
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2066862

5 SubmittersRCV000017793RCV002247352RCV003934838RCV003317040RCV003436923
NM_021870.3(FGG):c.78+5G>A SNV
Germline		 Chr4:154612527 Likely pathogenic Congenital afibrinogenemia
Hypofibrinogenemia		 Criteria Provided
Single Submitter
 CA126419 rs_587776837

2 SubmittersRCV000017798RCV000852217
NM_021870.3(FGG):c.307+5G>A SNV
Germline		 Chr4:154612013 Pathogenic Congenital afibrinogenemia No Assertion Criteria Provided
 CA126420 rs_587776838

1 SubmittersRCV000017799
NM_021870.3(FGG):c.571G>A (p.Gly191Arg) SNV
Germline		 Chr4:154609725 Conflicting classifications of pathogenicity Fibrinogen Milano XII, digenic
Congenital afibrinogenemia
not specified
Hypofibrinogenemia
Condition: not provided
Familial dysfibrinogenemia		 Criteria Provided
Conflicting Classifications
 CA126421 rs_6063

8 SubmittersRCV000017800RCV001144043RCV000791084RCV000851827RCV000963143RCV002222000
NM_021870.3(FGG):c.667-320A>T SNV
Germline		 Chr4:154608970 Pathogenic Congenital afibrinogenemia No Assertion Criteria Provided
 CA126427 rs_587776839

1 SubmittersRCV000017802
NM_005141.5(FGB):c.1148T>G (p.Leu383Arg) SNV
Germline		 Chr4:154569703 Pathogenic Congenital afibrinogenemia No Assertion Criteria Provided
 CA126442 rs_121909621

1 SubmittersRCV000017815
NM_005141.5(FGB):c.1289G>A (p.Gly430Asp) SNV
Germline		 Chr4:154570463 Pathogenic Congenital afibrinogenemia No Assertion Criteria Provided
 CA126444 rs_121909622

1 SubmittersRCV000017816
NM_005141.5(FGB):c.958+13C>T SNV
Germline		 Chr4:154569320 Pathogenic Congenital afibrinogenemia No Assertion Criteria Provided
 CA126448 rs_606231223

1 SubmittersRCV000017818
NM_005141.5(FGB):c.1244+1G>T SNV
Germline		 Chr4:154569800 Pathogenic Congenital afibrinogenemia No Assertion Criteria Provided
 CA126449 rs_606231224

1 SubmittersRCV000017819
NM_005141.5(FGB):c.605T>A (p.Leu202Gln) SNV
Germline		 Chr4:154567707 Pathogenic Congenital afibrinogenemia No Assertion Criteria Provided
 CA126450 rs_121909624

1 SubmittersRCV000017821
NM_005141.5(FGB):c.139C>T (p.Arg47Ter) SNV
Germline		 Chr4:154565832 Likely pathogenic Congenital afibrinogenemia
Hypofibrinogenemia
Afibrinogenemia
Condition: not provided		 Criteria Provided
Single Submitter
 CA126452 rs_121909625

5 SubmittersRCV000017822RCV000851927RCV002243650RCV001723574
NM_021871.4(FGA):c.104G>A (p.Arg35His) SNV
Germline		 Chr4:154589513 Pathogenic Dysfibrinogenemia
Abnormal bleeding
Hypofibrinogenemia
Condition: not provided
Familial dysfibrinogenemia
Familial dysfibrinogenemia
Familial visceral amyloidosis, Ostertag type
Congenital afibrinogenemia
FGA-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA130224 rs_121909607

9 SubmittersRCV000030941RCV000851971RCV000851581RCV001509236RCV002228034RCV002476987RCV004532379
NM_021871.4(FGA):c.1634A>T (p.Glu545Val) SNV
Germline		 Chr4:154585795 Pathogenic Familial visceral amyloidosis, Ostertag type
Congenital afibrinogenemia
Familial dysfibrinogenemia
Familial visceral amyloidosis, Ostertag type
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126494 rs_121909612

3 SubmittersRCV000017871RCV002490381RCV003480033
NM_000508.3(FGA):c.1717C>T (p.Arg573Cys) SNV
Germline		 Chr4:154585712 Likely pathogenic FIBRINOGEN DUSART
Deep venous thrombosis
Congenital afibrinogenemia
Familial dysfibrinogenemia
Familial visceral amyloidosis, Ostertag type		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126498 rs_121909613

3 SubmittersRCV000017872RCV002222001RCV002490382
NM_021871.4(FGA):c.510+1G>T SNV
Germline		 Chr4:154587511 Pathogenic Congenital afibrinogenemia
Familial hypodysfibrinogenemia
Hypofibrinogenemia
Condition: not provided
Congenital afibrinogenemia
Familial dysfibrinogenemia
Familial visceral amyloidosis, Ostertag type		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126508 rs_146387238

4 SubmittersRCV000017877RCV000030942RCV000851811RCV002513088RCV002496394
NM_021871.4(FGA):c.991A>G (p.Thr331Ala) SNV
Germline		 Chr4:154586438 Conflicting classifications of pathogenicity Venous thromboembolism, susceptibility to
Congenital afibrinogenemia
not specified
Familial visceral amyloidosis, Ostertag type
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA126515 rs_6050

7 SubmittersRCV000017882RCV000338448RCV000246757RCV000405212RCV001509235
NM_021871.4(FGA):c.616C>G (p.Gln206Glu) SNV
Germline		 Chr4:154586813 Conflicting classifications of pathogenicity Congenital afibrinogenemia
Familial visceral amyloidosis, Ostertag type		 Criteria Provided
Conflicting Classifications
 CA3115245 rs_560732073

1 SubmittersRCV000279650RCV000371491
NM_005141.5(FGB):c.1244+7G>A SNV
Germline		 Chr4:154569806 Conflicting classifications of pathogenicity Congenital afibrinogenemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3114746 rs_142937995

2 SubmittersRCV000402896RCV002523465
NM_021871.4(FGA):c.450G>A (p.Gln150=) SNV
Germline		 Chr4:154587572 Conflicting classifications of pathogenicity Familial visceral amyloidosis, Ostertag type
Congenital afibrinogenemia
not specified		 Criteria Provided
Conflicting Classifications
 CA3115296 rs_368446857

2 SubmittersRCV000283016RCV000340627RCV004526668
NM_021871.4(FGA):c.1417G>A (p.Asp473Asn) SNV
Germline		 Chr4:154586012 Conflicting classifications of pathogenicity Congenital afibrinogenemia
Familial visceral amyloidosis, Ostertag type
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3115087 rs_200378626

4 SubmittersRCV000296696RCV000334967RCV001702008RCV002520212
NM_021871.4(FGA):c.244A>C (p.Thr82Pro) SNV
Germline		 Chr4:154588913 Conflicting classifications of pathogenicity Congenital afibrinogenemia
Familial visceral amyloidosis, Ostertag type		 Criteria Provided
Conflicting Classifications
 CA3115349 rs_199554805

1 SubmittersRCV000344051RCV000404726
NM_021871.4(FGA):c.*50T>G SNV
Germline		 Chr4:154585444 Conflicting classifications of pathogenicity Congenital afibrinogenemia
Familial visceral amyloidosis, Ostertag type		 Criteria Provided
Conflicting Classifications
 CA3114996 rs_369606098

1 SubmittersRCV000266418RCV000358780
NM_021871.4(FGA):c.1838A>G (p.His613Arg) SNV
Germline		 Chr4:154585591 Conflicting classifications of pathogenicity Familial visceral amyloidosis, Ostertag type
Congenital afibrinogenemia
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3115024 rs_201686865

2 SubmittersRCV000323812RCV000381748RCV004021942
NM_021871.4(FGA):c.1823G>C (p.Gly608Ala) SNV
Germline		 Chr4:154585606 Conflicting classifications of pathogenicity Familial visceral amyloidosis, Ostertag type
Congenital afibrinogenemia
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3115027 rs_370873387

2 SubmittersRCV000270905RCV000328375RCV002520211
NM_021870.3(FGG):c.*488C>T SNV
Germline		 Chr4:154604346 Conflicting classifications of pathogenicity Congenital afibrinogenemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3115436 rs_191297318

2 SubmittersRCV000369894RCV002520215
NM_021871.4(FGA):c.502C>T (p.Arg168Ter) SNV
Germline		 Chr4:154587520 Pathogenic Congenital afibrinogenemia
Familial visceral amyloidosis, Ostertag type
Familial dysfibrinogenemia
Congenital afibrinogenemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3115289 rs_755117226

3 SubmittersRCV000454272RCV002502594RCV001380954
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) SNV
Germline		 Chr4:154568456 Conflicting classifications of pathogenicity not specified
Abnormal bleeding
Condition: not provided
Congenital afibrinogenemia
Hypofibrinogenemia
Thrombocytopenia
Abnormal bleeding
Afibrinogenemia
Thrombus
Familial dysfibrinogenemia
FGB-related disorder		 Criteria Provided
Conflicting Classifications
 CA3114629 rs_6054

11 SubmittersRCV000606613RCV000851949RCV000861598RCV000660563RCV000851887RCV001270563RCV002245051RCV002280881RCV003313786RCV003403425
NM_021870.3(FGG):c.1022G>A (p.Trp341Ter) SNV
Germline		 Chr4:154606812 Pathogenic Congenital afibrinogenemia Criteria Provided
Single Submitter
 CA358535772 rs_1553965519

1 SubmittersRCV000600509
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) SNV
Germline		 Chr4:154611883 Conflicting classifications of pathogenicity Congenital afibrinogenemia
Abnormal bleeding
Abnormal bleeding
Thrombocytopenia
Familial dysfibrinogenemia
Condition: not provided
not specified
Congenital fibrinogen deficiency
Thrombus		 Criteria Provided
Conflicting Classifications
 rs_148685782

13 SubmittersRCV000660564RCV000851595RCV001270551RCV003232069RCV000899510RCV001449762RCV001559328RCV002280883
NM_005141.5(FGB):c.534G>C (p.Lys178Asn) SNV
Germline		 Chr4:154567636 Conflicting classifications of pathogenicity Deep venous thrombosis
Congenital afibrinogenemia
Condition: not provided
FGB-related disorder		 Criteria Provided
Conflicting Classifications
 rs_201909029

5 SubmittersRCV000852154RCV001148167RCV000998310RCV003965575
NM_021871.4(FGA):c.922C>T (p.Arg308Ter) SNV
Germline		 Chr4:154586507 Pathogenic/Likely pathogenic Hypofibrinogenemia
Condition: not provided
Familial dysfibrinogenemia
Congenital afibrinogenemia
Familial visceral amyloidosis, Ostertag type		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_776817952

3 SubmittersRCV000852248RCV001784377RCV002500996
NM_021870.3(FGG):c.140C>T (p.Thr47Ile) SNV
Germline		 Chr4:154612185 Conflicting classifications of pathogenicity Abnormal bleeding
Congenital afibrinogenemia
not specified
Condition: not provided
FGG-related disorder		 Criteria Provided
Conflicting Classifications
 rs_138511699

7 SubmittersRCV000852024RCV001145945RCV001824877RCV003320738RCV003947972
NM_021871.4(FGA):c.532C>T (p.Arg178Ter) SNV
Germline		 Chr4:154586897 Pathogenic/Likely pathogenic FGA-related disorder
Familial visceral amyloidosis, Ostertag type
Congenital afibrinogenemia
Familial dysfibrinogenemia		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_140911890

2 SubmittersRCV000779434RCV002487602
NM_005141.5(FGB):c.298C>T (p.Pro100Ser) SNV
Germline		 Chr4:154565991 Conflicting classifications of pathogenicity Condition: not provided
Congenital afibrinogenemia
not specified		 Criteria Provided
Conflicting Classifications
 rs_2227434

3 SubmittersRCV000862329RCV001148165RCV003489944
NM_021870.3(FGG):c.666+23T>A SNV
Germline		 Chr4:154609607 Pathogenic Congenital afibrinogenemia No Assertion Criteria Provided
 rs_1578810856

1 SubmittersRCV000984549
NM_005141.5(FGB):c.974G>C (p.Gly325Ala) SNV
Germline		 Chr4:154569529 Pathogenic Congenital afibrinogenemia No Assertion Criteria Provided
 rs_1578785111

1 SubmittersRCV000984797
NM_021871.4(FGA):c.811C>T (p.Arg271Ter) SNV
Germline		 Chr4:154586618 Pathogenic Congenital afibrinogenemia No Assertion Criteria Provided
 rs_1578796476

1 SubmittersRCV000984799
NM_005141.5(FGB):c.762G>A (p.Met254Ile) SNV
Germline		 Chr4:154568424 Conflicting classifications of pathogenicity Congenital afibrinogenemia
FGB-related disorder		 Criteria Provided
Conflicting Classifications
 rs_201536638

2 SubmittersRCV001149729RCV003953533
NM_021871.4(FGA):c.*133G>A SNV
Germline		 Chr4:154585361 Conflicting classifications of pathogenicity Familial visceral amyloidosis, Ostertag type
Congenital afibrinogenemia		 Criteria Provided
Conflicting Classifications
 rs_182736373

1 SubmittersRCV001148384RCV001148383
NM_021871.4(FGA):c.1918C>G (p.Pro640Ala) SNV
Germline		 Chr4:154585511 Conflicting classifications of pathogenicity Congenital afibrinogenemia
Familial visceral amyloidosis, Ostertag type		 Criteria Provided
Conflicting Classifications
 rs_199571440

1 SubmittersRCV001149941RCV001149942
NM_021871.4(FGA):c.1912G>A (p.Gly638Arg) SNV
Germline		 Chr4:154585517 Conflicting classifications of pathogenicity Familial visceral amyloidosis, Ostertag type
Congenital afibrinogenemia		 Criteria Provided
Conflicting Classifications
 rs_771429165

1 SubmittersRCV001149943RCV001149944
NM_021871.4(FGA):c.1718G>A (p.Arg573His) SNV
Germline		 Chr4:154585711 Conflicting classifications of pathogenicity Familial visceral amyloidosis, Ostertag type
Congenital afibrinogenemia		 Criteria Provided
Conflicting Classifications
 rs_78506343

1 SubmittersRCV001145521RCV001145522
NM_021871.4(FGA):c.1072G>A (p.Gly358Arg) SNV
Germline		 Chr4:154586357 Conflicting classifications of pathogenicity Familial visceral amyloidosis, Ostertag type
Congenital afibrinogenemia
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_201105899

3 SubmittersRCV001145726RCV001145727RCV001772340RCV002557120
NM_021870.3(FGG):c.*496A>C SNV
Germline		 Chr4:154604338 Conflicting classifications of pathogenicity Congenital afibrinogenemia
FGG-related disorder		 Criteria Provided
Conflicting Classifications
 rs_187316301

2 SubmittersRCV001148603RCV003918733
NM_021870.3(FGG):c.318C>T (p.Asp106=) SNV
Germline		 Chr4:154611888 Conflicting classifications of pathogenicity Congenital afibrinogenemia
FGG-related disorder		 Criteria Provided
Conflicting Classifications
 rs_150242757

2 SubmittersRCV001145944RCV003953527
NM_021870.3(FGG):c.124G>A (p.Gly42Ser) SNV
Germline		 Chr4:154612201 Conflicting classifications of pathogenicity Congenital afibrinogenemia
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 rs_202132393

7 SubmittersRCV001145946RCV001171744RCV002249738
NM_005141.5(FGB):c.115-12C>T SNV
Germline		 Chr4:154565796 Conflicting classifications of pathogenicity Congenital afibrinogenemia
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_187641148

3 SubmittersRCV001147195RCV003396773RCV003558716
NM_021871.4(FGA):c.364+1G>A SNV
Unknown		 Chr4:154588792 Likely pathogenic Congenital afibrinogenemia
Familial visceral amyloidosis, Ostertag type
Familial dysfibrinogenemia		 Criteria Provided
Single Submitter
 rs_778779380

1 SubmittersRCV002506823