NM_021871.4(FGA):c.1055del (p.Pro352fs)Pathogenic
Afibrinogenemia|not provided|Congenital afibrinogenemia;Familial visceral amyloidosis, Ostertag type;Familial dysfibrinogenemia
★★☆☆2025→ Residue 352
NM_021871.4(FGA):c.1634A>T (p.Glu545Val)Pathogenic
Familial visceral amyloidosis, Ostertag type|not provided|Familial visceral amyloidosis, Ostertag type;Familial dysfibrinogenemia;Congenital afibrinogenemia|Familial dysfibrinogenemia
★★☆☆2025→ Residue 545
NM_021871.4(FGA):c.1653del (p.Gly552fs)Pathogenic
not provided|Familial dysfibrinogenemia|FGA-related disorder|Congenital factor V deficiency|Familial visceral amyloidosis, Ostertag type
★★☆☆2025→ Residue 552
NM_021871.4(FGA):c.104G>A (p.Arg35His)Pathogenic
Dysfibrinogenemia|Hypofibrinogenemia|Abnormal bleeding|not provided|Familial visceral amyloidosis, Ostertag type;Familial dysfibrinogenemia;Congenital afibrinogenemia|Familial dysfibrinogenemia|FGA-related disorder
★★☆☆2025→ Residue 35
NM_000508.3(FGA):c.103C>T (p.Arg35Cys)Pathogenic
Dysfibrinogenemia|not provided|Familial dysfibrinogenemia|FGA-related disorder|Congenital afibrinogenemia
★★☆☆2025→ Residue 35
NM_021871.4(FGA):c.510+1G>TPathogenic
Congenital afibrinogenemia|Familial hypodysfibrinogenemia|Hypofibrinogenemia|not provided|Familial visceral amyloidosis, Ostertag type;Familial dysfibrinogenemia;Congenital afibrinogenemia|Familial dysfibrinogenemia
★★☆☆2025
NM_021871.4(FGA):c.1541del (p.Pro514fs)Pathogenic
FGA-related disorder|Congenital afibrinogenemia;Familial visceral amyloidosis, Ostertag type;Familial dysfibrinogenemia|not provided
★★☆☆2025→ Residue 514
NM_000508.3(FGA):c.112A>G (p.Arg38Gly)Likely pathogenic
FIBRINOGEN AARHUS 1|Hypofibrinogenemia|not provided|FGA-related disorder
★★☆☆2025→ Residue 38
NM_021871.4(FGA):c.1736dup (p.Tyr579Ter)Likely pathogenic
not provided|Congenital afibrinogenemia;Familial dysfibrinogenemia;Familial visceral amyloidosis, Ostertag type
★★☆☆2024→ Residue 579
NM_000508.3(FGA):c.1717C>T (p.Arg573Cys)Likely pathogenic
FIBRINOGEN DUSART|Deep venous thrombosis|Familial visceral amyloidosis, Ostertag type;Familial dysfibrinogenemia;Congenital afibrinogenemia
★★☆☆2024→ Residue 573
NM_021871.4(FGA):c.117del (p.Val40fs)Pathogenic
Hypofibrinogenemia|Familial dysfibrinogenemia|FGA-related disorder|Congenital afibrinogenemia;Familial visceral amyloidosis, Ostertag type;Familial dysfibrinogenemia
★★☆☆2024→ Residue 40
NM_021871.4(FGA):c.532C>T (p.Arg178Ter)Pathogenic
FGA-related disorder|Congenital afibrinogenemia;Familial visceral amyloidosis, Ostertag type;Familial dysfibrinogenemia|Congenital afibrinogenemia;Familial visceral amyloidosis, Ostertag type
★★☆☆2024→ Residue 178
NM_021871.4(FGA):c.1452del (p.Ser485fs)Likely pathogenic
not provided|Congenital afibrinogenemia;Familial visceral amyloidosis, Ostertag type;Familial dysfibrinogenemia
★★☆☆2024→ Residue 485
NM_021871.4(FGA):c.364+1G>APathogenic
Familial dysfibrinogenemia;Familial visceral amyloidosis, Ostertag type;Congenital afibrinogenemia|not provided
★★☆☆2023
NM_021871.4(FGA):c.448C>T (p.Gln150Ter)Pathogenic
Familial dysfibrinogenemia|Congenital afibrinogenemia
★★☆☆2022→ Residue 150
NM_021871.4(FGA):c.922C>T (p.Arg308Ter)Pathogenic
Hypofibrinogenemia|not provided|Congenital afibrinogenemia;Familial visceral amyloidosis, Ostertag type;Familial dysfibrinogenemia
★★☆☆2022→ Residue 308
NM_021871.4(FGA):c.713del (p.Lys238fs)Pathogenic
Familial visceral amyloidosis, Ostertag type|Congenital afibrinogenemia
★★☆☆2022→ Residue 238
NM_021871.4(FGA):c.502C>T (p.Arg168Ter)Pathogenic
Congenital afibrinogenemia|not provided|Congenital afibrinogenemia;Familial visceral amyloidosis, Ostertag type;Familial dysfibrinogenemia
★★☆☆2021→ Residue 168
FIBRINOGEN DETROIT 1Likely pathogenic
FIBRINOGEN DETROIT 1|not provided
★☆☆☆2025
NM_021871.4(FGA):c.187A>T (p.Lys63Ter)Pathogenic
Familial dysfibrinogenemia
★☆☆☆2025→ Residue 63