NM_000243.3(MEFV):c.2080A>G (p.Met694Val)Pathogenic
Familial Mediterranean fever|not provided|Acute febrile neutrophilic dermatosis|Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant|Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant;Acute febrile neutrophilic dermatosis|Autoinflammatory syndrome|Familial Mediterranean fever, autosomal dominant|MEFV-related disorder|Inborn genetic diseases|Recurrent fever
β
β
ββ2026β Residue 694
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)Pathogenic
Familial Mediterranean fever|Inborn genetic diseases|not provided|Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant|Familial Mediterranean fever, autosomal dominant|Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant;Acute febrile neutrophilic dermatosis|Autoinflammatory syndrome|MEFV-related disorder
β
β
ββ2026β Residue 726
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)Pathogenic
Familial Mediterranean fever|not provided|Familial Mediterranean fever, autosomal dominant|Autoinflammatory syndrome|Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant;Acute febrile neutrophilic dermatosis|MEFV-related disorder
β
β
ββ2026β Residue 680
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)Pathogenic
Familial Mediterranean fever|not provided|Familial Mediterranean fever, autosomal dominant|Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant|Autoinflammatory syndrome|Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant;Acute febrile neutrophilic dermatosis|MEFV-related disorder
β
β
ββ2026β Residue 694
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)Pathogenic
Familial Mediterranean fever|not provided|Acute febrile neutrophilic dermatosis|Autoinflammatory syndrome|See cases|Familial Mediterranean fever, autosomal dominant|Inborn genetic diseases|Familial Mediterranean fever, autosomal dominant;Familial Mediterranean fever;Acute febrile neutrophilic dermatosis|MEFV-related disorder
β
β
ββ2026β Residue 680
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)Pathogenic
Familial Mediterranean fever|not provided|Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant|Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant;Acute febrile neutrophilic dermatosis|Autoinflammatory syndrome|Familial Mediterranean fever, autosomal dominant|MEFV-related disorder|Inborn genetic diseases
β
β
ββ2026β Residue 761
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)Pathogenic
Familial Mediterranean fever|not provided|Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant;Acute febrile neutrophilic dermatosis|Familial Mediterranean fever, autosomal dominant
β
β
ββ2026β Residue 653
NM_000243.3(MEFV):c.726C>A (p.Ser242Arg)Pathogenic
Familial Mediterranean fever|Familial Mediterranean fever, autosomal dominant|Acute febrile neutrophilic dermatosis;Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant|Neuronal ceroid lipofuscinosis
β
β
ββ2024β Residue 242
NM_000243.3(MEFV):c.2040G>T (p.Met680Ile)Pathogenic
not provided|Familial Mediterranean fever
β
β
ββ2023β Residue 680
NM_000243.3(MEFV):c.724A>G (p.Ser242Gly)Likely pathogenic
Familial Mediterranean fever
β
βββ2024β Residue 242
NM_000243.3(MEFV):c.590del (p.Gly197fs)Likely pathogenic
Familial Mediterranean fever
β
βββ2024β Residue 197
NM_000243.3(MEFV):c.1900C>T (p.Gln634Ter)Likely pathogenic
not provided
β
βββ2022β Residue 634
NM_000243.3(MEFV):c.1506_1507dup (p.Ser503fs)Likely pathogenic
Familial Mediterranean fever
β
βββ2022β Residue 503
NM_000243.3(MEFV):c.1510C>T (p.Gln504Ter)Pathogenic
Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant;Acute febrile neutrophilic dermatosis
β
βββ2021β Residue 504
NM_000243.3(MEFV):c.1597_1598dup (p.Asp533fs)Likely pathogenic
Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant;Acute febrile neutrophilic dermatosis
β
βββ2021β Residue 533
NM_000243.3(MEFV):c.214C>T (p.Gln72Ter)Pathogenic
Familial Mediterranean fever
β
βββ2019β Residue 72
NM_000243.3(MEFV):c.265del (p.Ala89fs)Pathogenic
Familial Mediterranean fever
β
βββ2019β Residue 89
NM_000243.3(MEFV):c.1321C>T (p.Arg441Ter)Likely pathogenic
Autoinflammatory syndrome
β
βββ2018β Residue 441
NM_000243.3(MEFV):c.2080_2082delinsGTA (p.Met694Val)Pathogenic
not provided
β
βββ2017β Residue 694
NM_000243.3(MEFV):c.730G>A (p.Glu244Lys)Pathogenic
Acute febrile neutrophilic dermatosis
ββββ2021β Residue 244