NM_001083116.3(PRF1):c.449C>A (p.Ser150Ter)Pathogenic
Familial hemophagocytic lymphohistiocytosis 2|Familial hemophagocytic lymphohistiocytosis|Aplastic anemia
β
β
ββ2026β Residue 150
NM_001083116.3(PRF1):c.1349C>T (p.Thr450Met)Pathogenic
Familial hemophagocytic lymphohistiocytosis 2|not provided|Aplastic anemia|Aplastic anemia;Familial hemophagocytic lymphohistiocytosis 2;Lymphoma, non-Hodgkin, familial
β
β
ββ2026β Residue 450
NM_001083116.3(PRF1):c.50del (p.Leu17fs)Pathogenic
Familial hemophagocytic lymphohistiocytosis 2|not provided|Familial hemophagocytic lymphohistiocytosis|Autoinflammatory syndrome|Aplastic anemia;Familial hemophagocytic lymphohistiocytosis 2;Lymphoma, non-Hodgkin, familial|Aplastic anemia|PRF1-related disorder
β
β
ββ2026β Residue 17
NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp)Pathogenic
not provided|Familial hemophagocytic lymphohistiocytosis 2|Aplastic anemia
β
β
ββ2026β Residue 361
NM_001083116.3(PRF1):c.1471G>A (p.Asp491Asn)Likely pathogenic
Familial hemophagocytic lymphohistiocytosis 2|Aplastic anemia|Familial hemophagocytic lymphohistiocytosis 2;Lymphoma, non-Hodgkin, familial;Aplastic anemia
β
β
ββ2026β Residue 491
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter)Pathogenic
Familial hemophagocytic lymphohistiocytosis 2|not provided|Autoinflammatory syndrome|Inborn genetic diseases|Aplastic anemia|Familial hemophagocytic lymphohistiocytosis 2;Lymphoma, non-Hodgkin, familial;Aplastic anemia
β
β
ββ2026β Residue 374
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser)Pathogenic
Inborn genetic diseases|Familial hemophagocytic lymphohistiocytosis 2|Aplastic anemia|not provided|Lymphoma, non-Hodgkin, familial;Familial hemophagocytic lymphohistiocytosis 2;Aplastic anemia|Familial hemophagocytic lymphohistiocytosis
β
β
ββ2026β Residue 149
NM_001083116.3(PRF1):c.658G>A (p.Gly220Ser)Pathogenic
Familial hemophagocytic lymphohistiocytosis|Aplastic anemia|Aplastic anemia;Familial hemophagocytic lymphohistiocytosis 2;Lymphoma, non-Hodgkin, familial|Familial hemophagocytic lymphohistiocytosis 2
β
β
ββ2026β Residue 220
NM_001083116.3(PRF1):c.844AAG[3] (p.Lys285del)Pathogenic
not provided|Familial hemophagocytic lymphohistiocytosis 2|Familial hemophagocytic lymphohistiocytosis|Inborn genetic diseases|Aplastic anemia|Familial hemophagocytic lymphohistiocytosis 2;Aplastic anemia;Lymphoma, non-Hodgkin, familial
β
β
ββ2026β Residue 285
NM_001083116.3(PRF1):c.496C>T (p.Gln166Ter)Pathogenic
PRF1-related disorder|Familial hemophagocytic lymphohistiocytosis 2
β
β
ββ2025β Residue 166
NM_001083116.3(PRF1):c.1314T>A (p.Tyr438Ter)Pathogenic
not provided|Familial hemophagocytic lymphohistiocytosis 2
β
β
ββ2025β Residue 438
NM_001083116.3(PRF1):c.949G>A (p.Gly317Arg)Pathogenic
Familial hemophagocytic lymphohistiocytosis 2|Familial hemophagocytic lymphohistiocytosis
β
β
ββ2025β Residue 317
NM_001083116.3(PRF1):c.1229G>C (p.Arg410Pro)Pathogenic
Familial hemophagocytic lymphohistiocytosis 2|Familial hemophagocytic lymphohistiocytosis|Aplastic anemia
β
β
ββ2025β Residue 410
NM_001083116.3(PRF1):c.781G>A (p.Glu261Lys)Pathogenic
Familial hemophagocytic lymphohistiocytosis 2|Familial hemophagocytic lymphohistiocytosis|Aplastic anemia
β
β
ββ2025β Residue 261
NM_001083116.3(PRF1):c.666C>A (p.His222Gln)Pathogenic
not provided|Familial hemophagocytic lymphohistiocytosis 2|Familial hemophagocytic lymphohistiocytosis|Aplastic anemia;Lymphoma, non-Hodgkin, familial;Familial hemophagocytic lymphohistiocytosis 2|Aplastic anemia
β
β
ββ2025β Residue 222
NM_001083116.3(PRF1):c.160C>T (p.Arg54Cys)Pathogenic
Familial hemophagocytic lymphohistiocytosis 2|Aplastic anemia|Familial hemophagocytic lymphohistiocytosis|Familial hemophagocytic lymphohistiocytosis 2;Aplastic anemia;Lymphoma, non-Hodgkin, familial
β
β
ββ2025β Residue 54
NM_001083116.3(PRF1):c.185_195del (p.Asp62fs)Pathogenic
Familial hemophagocytic lymphohistiocytosis 2|Aplastic anemia
β
β
ββ2025β Residue 62
NM_001083116.3(PRF1):c.150del (p.Thr51fs)Pathogenic
not provided|Aplastic anemia|Familial hemophagocytic lymphohistiocytosis 2|Familial hemophagocytic lymphohistiocytosis|Lymphoma, non-Hodgkin, familial;Familial hemophagocytic lymphohistiocytosis 2;Aplastic anemia
β
β
ββ2025β Residue 51
NM_001083116.3(PRF1):c.938A>T (p.Asp313Val)Pathogenic
Familial hemophagocytic lymphohistiocytosis 2|Aplastic anemia|not provided|Familial hemophagocytic lymphohistiocytosis 2;Lymphoma, non-Hodgkin, familial;Aplastic anemia
β
β
ββ2025β Residue 313
NM_001083116.3(PRF1):c.941_948delinsA (p.Leu314fs)Pathogenic
Aplastic anemia|Familial hemophagocytic lymphohistiocytosis
β
β
ββ2025β Residue 314