MEFV Chromosome 16
MEFV innate immunity regulator, pyrin
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What This Gene Does
This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Tripartite motif family|Pyrin domain containing"
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000103313
Associated Conditions (34)
Familial Mediterranean fever
autosomal dominant
Inborn genetic diseases
Acute febrile neutrophilic dermatosis
Autoinflammatory syndrome
MEFV-related disorder
6 conditions
Renal insufficiency
Heart
malformation of
Abnormal cardiovascular system morphology
Hypercholesterolemia
familial
1
Von Hippel-Lindau syndrome
Neuronal ceroid lipofuscinosis
Central core myopathy
See cases
Behcet disease
Cholangiocarcinoma
+14 more conditions
Key Variants
RS1012455878
Conflicting classifications of pathogenicity
Familial Mediterranean fever, autosomal dominant, Inborn genetic diseases
Health Risk
RS1033941048
Conflicting classifications of pathogenicity
Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis
Health Risk
RS104895076
Conflicting classifications of pathogenicity
Familial Mediterranean fever, Acute febrile neutrophilic dermatosis, autosomal dominant
Health Risk
RS104895077
Conflicting classifications of pathogenicity
Familial Mediterranean fever, Autoinflammatory syndrome, Inborn genetic diseases
Health Risk
RS104895078
Conflicting classifications of pathogenicity
Familial Mediterranean fever, Autoinflammatory syndrome, Inborn genetic diseases
Health Risk
RS104895079
Conflicting classifications of pathogenicity
Familial Mediterranean fever, autosomal dominant, Autoinflammatory syndrome
Health Risk
RS104895080
Conflicting classifications of pathogenicity
Familial Mediterranean fever, autosomal dominant, Autoinflammatory syndrome
Health Risk
RS104895081
Conflicting classifications of pathogenicity
Familial Mediterranean fever, autosomal dominant, Autoinflammatory syndrome
Health Risk
RS104895082
Conflicting classifications of pathogenicity
Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis
Health Risk
RS104895083
Conflicting classifications of pathogenicity
Familial Mediterranean fever, Autoinflammatory syndrome, autosomal dominant
Health Risk
RS104895084
Conflicting classifications of pathogenicity
Familial Mediterranean fever, Autoinflammatory syndrome, Familial Mediterranean fever
Health Risk
RS104895087
Conflicting classifications of pathogenicity
Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis
Health Risk
All Variants (273)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104895153 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Inborn genetic diseases, Acute febrile neutrophilic dermatosis |
| RS104895154 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Autoinflammatory syndrome, autosomal dominant |
| RS104895155 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Autoinflammatory syndrome, Familial Mediterranean fever |
| RS104895161 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Inborn genetic diseases, Familial Mediterranean fever |
| RS104895162 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Autoinflammatory syndrome, MEFV-related disorder |
| RS104895163 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Acute febrile neutrophilic dermatosis, autosomal dominant |
| RS104895164 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, See cases, Familial Mediterranean fever |
| RS104895165 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Autoinflammatory syndrome, autosomal dominant |
| RS104895169 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Acute febrile neutrophilic dermatosis, autosomal dominant |
| RS104895170 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Acute febrile neutrophilic dermatosis, autosomal dominant |
| RS104895171 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Acute febrile neutrophilic dermatosis, autosomal dominant |
| RS104895173 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis |
| RS104895175 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, autosomal dominant, Autoinflammatory syndrome |
| RS104895177 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Familial Mediterranean fever |
| RS104895179 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, autosomal dominant, Autoinflammatory syndrome |
| RS104895182 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Autoinflammatory syndrome, Inborn genetic diseases |
| RS104895192 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Autoinflammatory syndrome, MEFV-related disorder |
| RS104895194 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Acute febrile neutrophilic dermatosis, autosomal dominant |
| RS104895195 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Autoinflammatory syndrome, Inborn genetic diseases |
| RS104895196 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Autoinflammatory syndrome, Familial Mediterranean fever |
| RS104895198 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Autoinflammatory syndrome, Acute febrile neutrophilic dermatosis |
| RS104895199 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis |
| RS104895201 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Acute febrile neutrophilic dermatosis, autosomal dominant |
| RS104895202 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Autoinflammatory syndrome, autosomal dominant |
| RS104895204 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Acute febrile neutrophilic dermatosis, autosomal dominant |
| RS104895208 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Familial Mediterranean fever |
| RS104895210 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Autoinflammatory syndrome, Acute febrile neutrophilic dermatosis |
| RS104895214 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Autoinflammatory syndrome, Acute febrile neutrophilic dermatosis |
| RS1057516210 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Familial Mediterranean fever |
| RS1057519328 | Health Risk | Conflicting classifications of pathogenicity | Behcet disease, Familial Mediterranean fever, autosomal dominant |
| RS112739451 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis |
| RS113314808 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Autoinflammatory syndrome, Inborn genetic diseases |
| RS11466015 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Familial Mediterranean fever |
| RS11466016 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, autosomal dominant, Autoinflammatory syndrome |
| RS11466018 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Autoinflammatory syndrome, Familial Mediterranean fever |
| RS11466022 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Acute febrile neutrophilic dermatosis, autosomal dominant |
| RS11466023 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Autoinflammatory syndrome, Inborn genetic diseases |
| RS11466024 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Inborn genetic diseases, Autoinflammatory syndrome |
| RS11466026 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, autosomal dominant, Autoinflammatory syndrome |
| RS11466045 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Acute febrile neutrophilic dermatosis, Autoinflammatory syndrome |
| RS11466047 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Autoinflammatory syndrome, Inborn genetic diseases |
| RS11466048 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Autoinflammatory syndrome, MEFV-related disorder |
| RS11466050 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Familial Mediterranean fever |
| RS114930858 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Familial Mediterranean fever |
| RS1281153557 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis |
| RS1306636942 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis |
| RS1355225244 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis |
| RS138498376 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Acute febrile neutrophilic dermatosis, autosomal dominant |
| RS139313647 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis |
| RS139692347 | Health Risk | Conflicting classifications of pathogenicity | Familial Mediterranean fever, Acute febrile neutrophilic dermatosis, autosomal dominant |