MEFV (MEFV innate immunity regulator, pyrin)

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Gene: MEFV (MEFV innate immunity regulator, pyrin) Homo sapiens

Analyze

Symbol:

MEFV

Name:

MEFV innate immunity regulator, pyrin

RGD ID:

737570

HGNC Page

HGNC:6998

Description:

Enables actin binding activity and identical protein binding activity. Involved in several processes, including pyroptosome complex assembly; regulation of cytokine production; and regulation of defense response. Located in cytosol and nucleoplasm. Part of canonical inflammasome complex and microtubule associated complex. Implicated in several diseases, including Henoch-Schoenlein purpura; Sweet syndrome; asthma; familial Mediterranean fever; and hematologic cancer (multiple).

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

FMF; marenostrin; Mediterranean fever; MEF; MEFV innate immuity regulator, pyrin; MEFV, pyrin innate immunity regulator; MGC126560; MGC126586; PAAND; pyrin; TRIM20

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Mefv (Mediterranean fever)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Mefv (MEFV innate immunity regulator, pyrin)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OrthoDB, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Mefv (MEFV innate immunity regulator, pyrin)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	MEFV (MEFV innate immunity regulator, pyrin)	NCBI	Ortholog
Canis lupus familiaris (dog):	MEFV (MEFV innate immunity regulator, pyrin)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Mefv (MEFV innate immunity regulator, pyrin)	NCBI	Ortholog
Sus scrofa (pig):	MEFV (MEFV innate immunity regulator, pyrin)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	MEFV (MEFV innate immunity regulator, pyrin)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Mefv (MEFV innate immunity regulator, pyrin)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Tmem160 (transmembrane protein 160)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Mefv (MEFV innate immunity regulator, pyrin)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Mefv (Mediterranean fever)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	zgc:194990	Alliance	DIOPT (Ensembl Compara\|PANTHER)
Danio rerio (zebrafish):	si:dkey-219e21.2	Alliance	DIOPT (Ensembl Compara\|PANTHER)
Danio rerio (zebrafish):	si:dkey-18p12.4	Alliance	DIOPT (Ensembl Compara\|PANTHER)
Danio rerio (zebrafish):	si:ch211-114c12.5	Alliance	DIOPT (Ensembl Compara\|PANTHER)
Danio rerio (zebrafish):	si:ch73-364h19.2	Alliance	DIOPT (Ensembl Compara\|PANTHER)
Danio rerio (zebrafish):	si:ch211-120g10.1	Alliance	DIOPT (Ensembl Compara\|PANTHER)
Caenorhabditis elegans (roundworm):	B0281.8	Alliance	DIOPT (Ensembl Compara\|InParanoid)
Caenorhabditis elegans (roundworm):	C28G1.5	Alliance	DIOPT (Ensembl Compara\|InParanoid)
Caenorhabditis elegans (roundworm):	F43C11.7	Alliance	DIOPT (Ensembl Compara\|InParanoid)
Caenorhabditis elegans (roundworm):	ZK1240.5	Alliance	DIOPT (Ensembl Compara\|InParanoid)
Caenorhabditis elegans (roundworm):	ZK1240.8	Alliance	DIOPT (Ensembl Compara\|InParanoid)
Caenorhabditis elegans (roundworm):	ZK1240.3	Alliance	DIOPT (Ensembl Compara\|InParanoid)
Caenorhabditis elegans (roundworm):	C28G1.6	Alliance	DIOPT (Ensembl Compara\|InParanoid)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	3,242,027 - 3,256,633 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	3,242,027 - 3,256,633 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	3,292,027 - 3,306,633 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	3,232,029 - 3,246,628 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	3,232,028 - 3,246,628	NCBI
Celera	16	3,497,690 - 3,512,281 (-)	NCBI		Celera
Cytogenetic Map	16	p13.3	NCBI
HuRef	16	3,261,626 - 3,276,174 (-)	NCBI		HuRef
CHM1_1	16	3,291,965 - 3,306,560 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	16	3,269,087 - 3,283,689 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

acne (EXP)

acute lymphoblastic leukemia (IAGP)

acute myeloid leukemia (IAGP)

asthma (IAGP)

autistic disorder (IAGP)

Behcet's disease (IAGP)

brachydactyly (IAGP)

Cachexia (IAGP)

Cardiovascular Abnormalities (IAGP)

Chediak-Higashi syndrome (IAGP)

congenital heart disease (IAGP)

congenital myopathy 1A (IAGP)

cryptorchidism (IAGP)

Developmental Disabilities (IAGP)

epilepsy (IAGP)

familial Mediterranean fever (EXP,IAGP,ISS)

Familial Mediterranean Fever, Autosomal Dominant (IAGP)

Fever (IAGP)

genetic disease (IAGP)

Hematologic Neoplasms (IAGP)

Henoch-Schoenlein purpura (IAGP)

hidradenitis suppurativa (EXP)

Hyperpigmentation (IAGP)

idiopathic generalized epilepsy (IAGP)

kidney failure (IAGP)

lung disease (IAGP)

Macrocephaly (IAGP)

microcephaly (IAGP)

multiple myeloma (IAGP)

Muscle Hypotonia (IAGP)

myelodysplastic syndrome (IAGP)

neuronal ceroid lipofuscinosis (IAGP)

neuropathy (IAGP)

peripheral nervous system disease (IAGP)

psoriatic arthritis (EXP)

pyoderma gangrenosum (EXP)

Rubinstein-Taybi syndrome (IAGP)

short-rib thoracic dysplasia 9 with or without polydactyly (IAGP)

stereotypic movement disorder (IAGP)

Sweet syndrome (IAGP)

Syncope (IAGP)

urticaria (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,4,6-trinitrotoluene (ISO)

4,4'-sulfonyldiphenol (EXP)

6-propyl-2-thiouracil (ISO)

acetamide (ISO)

aflatoxin B1 (EXP)

ammonium chloride (ISO)

amphetamine (ISO)

antimycin A (EXP)

beclomethasone (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[b]fluoranthene (ISO)

Benzo[k]fluoranthene (ISO)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (ISO)

buta-1,3-diene (ISO)

carbon nanotube (ISO)

Cuprizon (ISO)

Dibutyl phosphate (EXP)

furan (ISO)

gold atom (EXP)

gold(0) (EXP)

lipopolysaccharide (EXP)

nickel atom (EXP)

ochratoxin A (ISO)

ozone (EXP,ISO)

paracetamol (ISO)

resveratrol (EXP)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

silicon dioxide (ISO)

sodium arsenite (ISO)

streptozocin (ISO)

thiram (EXP)

titanium dioxide (ISO)

triphenyl phosphate (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

inflammatory response (IDA,IEA)

innate immune response (IBA,IEA)

negative regulation of cytokine production involved in inflammatory response (IMP)

negative regulation of inflammatory response (IMP)

negative regulation of interleukin-1 beta production (IMP)

negative regulation of interleukin-12 production (IMP)

negative regulation of macrophage inflammatory protein 1 alpha production (IMP)

negative regulation of NLRP3 inflammasome complex assembly (IMP)

pattern recognition receptor signaling pathway (NAS)

positive regulation of autophagy (IDA)

positive regulation of cysteine-type endopeptidase activity (IDA)

positive regulation of inflammatory response (ISO)

positive regulation of interleukin-1 beta production (IDA)

pyroptosome complex assembly (IDA)

pyroptotic inflammatory response (NAS)

regulation of gene expression (IBA)

regulation of interleukin-1 beta production (IMP)

response to lipopolysaccharide (ISO)

response to silicon dioxide (ISO)

response to type II interferon (IDA)

Cellular Component

autophagosome (IEA)

canonical inflammasome complex (IPI)

cell projection (IEA)

cytoplasm (IBA,IDA,IEA)

cytoplasmic vesicle (IEA)

cytoskeleton (IEA)

cytosol (IBA,IDA,TAS)

lamellipodium (IEA)

microtubule (IEA,NAS)

microtubule associated complex (IDA)

nucleoplasm (IBA,IDA)

nucleus (IDA,IEA)

ruffle (IEA)

Molecular Function

actin binding (IDA,IEA)

identical protein binding (IPI)

metal ion binding (IEA)

protein binding (IPI)

ubiquitin protein ligase activity (IBA)

zinc ion binding (IEA,NAS)

Molecular Pathway Annotations Click to see Annotation Detail View

NOD-like receptor signaling pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

AA amyloidosis (IAGP)

Abdominal pain (IAGP)

Abnormal anterior fontanelle morphology (IAGP)

Abnormal blistering of the skin (IAGP)

Abnormal cardiovascular system morphology (IAGP)

Abnormal cerebral white matter morphology (IAGP)

Abnormal circulating interleukin concentration (IAGP)

Abnormal drug response (IAGP)

Abnormal facial shape (IAGP)

Abnormal myocardium morphology (IAGP)

Abnormal nonverbal communicative behavior (IAGP)

Abnormal pyramidal sign (IAGP)

Abnormality of the dentition (IAGP)

Abnormality of the face (IAGP)

Abnormality of the hand (IAGP)

Abnormality of the knee (IAGP)

Abnormality of the neck (IAGP)

Abnormality of tumor necrosis factor secretion (IAGP)

Acne (IAGP)

Acne inversa (IAGP)

Acute hepatic failure (IAGP)

Acute myeloid leukemia (IAGP)

Amyloidosis (IAGP)

Anemia (IAGP)

Anorexia (IAGP)

Anxiety (IAGP)

Aortic regurgitation (IAGP)

Aphthous ulcer (IAGP)

Arrhythmia (IAGP)

Arterial thrombosis (IAGP)

Arthralgia (IAGP)

Arthritis (IAGP)

Ascites (IAGP)

Asthenia (IAGP)

Ataxia (IAGP)

Atypical behavior (IAGP)

Autistic behavior (IAGP)

Autosomal dominant inheritance (IAGP)

Autosomal recessive inheritance (IAGP)

Avascular necrosis (IAGP)

Blindness (IAGP)

Brachydactyly (IAGP)

Breast carcinoma (IAGP)

Cachexia (IAGP)

Cataract (IAGP)

Cerebral ischemia (IAGP)

Chest pain (IAGP)

Childhood onset (IAGP)

Chondrocalcinosis (IAGP)

Chronic constipation (IAGP)

Chronic lymphatic leukemia (IAGP)

Confusion (IAGP)

Constipation (IAGP)

Cranial nerve paralysis (IAGP)

Crohn's disease (IAGP)

Cryptorchidism (IAGP)

Cystic acne (IAGP)

Deep plantar creases (IAGP)

Depression (IAGP)

Developmental regression (IAGP)

Diarrhea (IAGP)

Dilated cardiomyopathy (IAGP)

Elevated circulating amyloid A concentration (IAGP)

Elevated circulating C-reactive protein concentration (IAGP)

Elevated erythrocyte sedimentation rate (IAGP)

Endocarditis (IAGP)

Epididymitis (IAGP)

Episodic abdominal pain (IAGP)

Erysipelas (IAGP)

Erythema (IAGP)

Erythema nodosum (IAGP)

Erythematous papule (IAGP)

Erythematous plaque (IAGP)

Fatigue (IAGP)

Fever (IAGP)

Gait disturbance (IAGP)

Gangrene (IAGP)

Gastrointestinal hemorrhage (IAGP)

Gastrointestinal infarctions (IAGP)

Generalized hypotonia (IAGP)

Generalized-onset seizure (IAGP)

Genital ulcers (IAGP)

Global developmental delay (IAGP)

Glomerulonephritis (IAGP)

Glomerulopathy (IAGP)

Headache (IAGP)

Hematological neoplasm (IAGP)

Hemiparesis (IAGP)

Hemoptysis (IAGP)

Hepatomegaly (IAGP)

Hyperfibrinogenemia (IAGP)

Hyperpigmentation of the skin (IAGP)

Hyperreflexia (IAGP)

Hypoesthesia (IAGP)

Hypotonia (IAGP)

Immunologic hypersensitivity (IAGP)

Increased circulating interleukin 6 concentration (IAGP)

Increased inflammatory response (IAGP)

Increased intracranial pressure (IAGP)

Infantile onset (IAGP)

Infectious encephalitis (IAGP)

Inflammation of the large intestine (IAGP)

Intermittent diarrhea (IAGP)

Intestinal obstruction (IAGP)

Irritability (IAGP)

Joint swelling (IAGP)

Juvenile onset (IAGP)

Keratoconjunctivitis sicca (IAGP)

Knee joint hypermobility (IAGP)

Leukocytosis (IAGP)

Loss of consciousness (IAGP)

Low back pain (IAGP)

Lymphadenopathy (IAGP)

Macrocephaly (IAGP)

Malabsorption (IAGP)

Memory impairment (IAGP)

Meningitis (IAGP)

Microcephaly (IAGP)

Migraine (IAGP)

Mitral regurgitation (IAGP)

Myalgia (IAGP)

Myocardial infarction (IAGP)

Myocarditis (IAGP)

Myositis (IAGP)

Nausea and vomiting (IAGP)

Neoplasm (IAGP)

Nephrocalcinosis (IAGP)

Nephropathy (IAGP)

Nephrotic syndrome (IAGP)

Neutrophilia (IAGP)

Non-infectious meningitis (IAGP)

Non-periodic recurrent fever (IAGP)

Nongranulomatous uveitis (IAGP)

Oligoarthritis (IAGP)

Optic neuritis (IAGP)

Oral leukoplakia (IAGP)

Oral ulcer (IAGP)

Orchitis (IAGP)

Osteoarthritis (IAGP)

Pain (IAGP)

Pancreatitis (IAGP)

Panniculitis (IAGP)

Panuveitis (IAGP)

Papule (IAGP)

Paresthesia (IAGP)

Pedal edema (IAGP)

Pericarditis (IAGP)

Peripheral neuropathy (IAGP)

Peritonitis (IAGP)

Photophobia (IAGP)

Pleural effusion (IAGP)

Pleuritis (IAGP)

Polyarticular arthritis (IAGP)

Poor appetite (IAGP)

Positive pathergy test (IAGP)

Predominantly dermal neutrophilic infiltrate (IAGP)

Profound global developmental delay (IAGP)

Proteinuria (IAGP)

Pulmonary embolism (IAGP)

Pulmonary infiltrates (IAGP)

Pustule (IAGP)

Pyoderma gangrenosum (IAGP)

Recurrent aphthous stomatitis (IAGP)

Recurrent fever (IAGP)

Recurrent infections (IAGP)

Renal amyloidosis (IAGP)

Renal insufficiency (IAGP)

Retinopathy (IAGP)

Retrobulbar optic neuritis (IAGP)

Seizure (IAGP)

Skin nodule (IAGP)

Skin rash (IAGP)

Skin vesicle (IAGP)

Sleep abnormality (IAGP)

Small vessel vasculitis (IAGP)

Splenomegaly (IAGP)

Stage 5 chronic kidney disease (IAGP)

Sterile abscess (IAGP)

Subcutaneous nodule (IAGP)

Superficial thrombophlebitis (IAGP)

Syncope (IAGP)

Synophrys (IAGP)

Urticaria (IAGP)

Vasculitis (IAGP)

Venous thrombosis (IAGP)

Vertigo (IAGP)

Vomiting (IAGP)

Weight loss (IAGP)

Young adult onset (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Pulmonary manifestations and function tests in children genetically diagnosed with FMF.	Brik R, etal., Pediatr Pulmonol. 2003 Jun;35(6):452-5.
2.	Frequency of inherited variants in the MEFV gene in myelodysplastic syndrome and acute myeloid leukemia.	Celik S, etal., Int J Hematol. 2012 Mar;95(3):285-90. doi: 10.1007/s12185-012-1022-0. Epub 2012 Feb 18.
3.	The rate of MEFV gene mutations in hematolymphoid neoplasms.	Celik S, etal., Int J Immunogenet. 2010 Oct;37(5):387-91. doi: 10.1111/j.1744-313X.2010.00938.x. Epub 2010 May 27.
4.	Increased frequency of Mediterranean fever gene variants in multiple myeloma.	Celik S, etal., Oncol Lett. 2014 Oct;8(4):1735-1738. Epub 2014 Aug 4.
5.	Prevalence and significance of the MEFV gene mutations in childhood Henoch-Schonlein purpura without FMF symptoms.	Dogan CS, etal., Rheumatol Int. 2013 Feb;33(2):377-80. doi: 10.1007/s00296-012-2400-x. Epub 2012 Mar 27.
6.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
7.	MEFV E148Q polymorphism is associated with Henoch-Schonlein purpura in Chinese children.	He X, etal., Pediatr Nephrol. 2010 Oct;25(10):2077-82. doi: 10.1007/s00467-010-1582-2. Epub 2010 Jul 3.
8.	Mediterranean Fever gene analysis in the azeri turk population with familial mediterranean Fever: evidence for new mutations associated with disease.	Mohammadnejad L and Farajnia S, Cell J. 2013 Summer;15(2):152-9. Epub 2013 Jul 2.
9.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
10.	The M694V mutation in Armenian-Americans: a 10-year retrospective study of MEFV mutation testing for familial Mediterranean fever at UCLA.	Ong FS, etal., Clin Genet. 2013 Jul;84(1):55-9. doi: 10.1111/cge.12029. Epub 2012 Nov 7.
11.	Familial Mediterranean fever gene mutation frequencies and genotype-phenotype correlations in the Aegean region of Turkey.	Ozalkaya E, etal., Rheumatol Int. 2010 Mar 9.
12.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
13.	Familial Mediterranean fever gene and protection against asthma.	Rabinovitch E, etal., Ann Allergy Asthma Immunol. 2007 Dec;99(6):517-21.
14.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
16.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
17.	MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura.	Salah S, etal., Pediatr Rheumatol Online J. 2014 Sep 9;12:41. doi: 10.1186/1546-0096-12-41. eCollection 2014.
18.	High Frequency of Inherited Variants in the MEFV Gene in Acute Lymphocytic Leukemia.	Sayan O, etal., Indian J Hematol Blood Transfus. 2011 Sep;27(3):164-8. doi: 10.1007/s12288-011-0095-x. Epub 2011 Jul 21.

Additional References at PubMed

PMID:9152834	PMID:9177779	PMID:9288094	PMID:9288758	PMID:9572633	PMID:9653642	PMID:9668175	PMID:9735379	PMID:10024914	PMID:10090880	PMID:10234504	PMID:10364520
PMID:10612841	PMID:10666224	PMID:10737995	PMID:10782044	PMID:10787449	PMID:10807793	PMID:10842288	PMID:10854105	PMID:11115844	PMID:11139244	PMID:11175300	PMID:11464238
PMID:11464248	PMID:11468188	PMID:11470495	PMID:11484206	PMID:11498534	PMID:11588211	PMID:11781702	PMID:12054656	PMID:12077709	PMID:12105243	PMID:12124996	PMID:12180071
PMID:12384939	PMID:12401847	PMID:12461684	PMID:12477932	PMID:12615073	PMID:12646168	PMID:12687559	PMID:12700594	PMID:12762136	PMID:12905488	PMID:12929299	PMID:12955725
PMID:12966608	PMID:14578967	PMID:14595024	PMID:14615741	PMID:14636645	PMID:14679589	PMID:14727057	PMID:14727457	PMID:14985395	PMID:15018633	PMID:15024744	PMID:15071491
PMID:15122067	PMID:15146467	PMID:15458961	PMID:15643295	PMID:15667491	PMID:15674370	PMID:15717684	PMID:15724392	PMID:15805719	PMID:15903027	PMID:15942916	PMID:15958759
PMID:16037825	PMID:16118480	PMID:16225401	PMID:16234278	PMID:16245224	PMID:16255051	PMID:16378925	PMID:16387839	PMID:16403826	PMID:16439335	PMID:16498413	PMID:16523434
PMID:16523438	PMID:16614989	PMID:16627024	PMID:16707534	PMID:16721494	PMID:16730661	PMID:16785446	PMID:16907704	PMID:17067442	PMID:17067447	PMID:17090974	PMID:17102945
PMID:17195238	PMID:17276496	PMID:17454935	PMID:17469185	PMID:17489852	PMID:17520284	PMID:17566872	PMID:17594097	PMID:17665427	PMID:17696266	PMID:17697637	PMID:17710881
PMID:17711558	PMID:17889261	PMID:17938136	PMID:17964261	PMID:18000697	PMID:18006045	PMID:18035151	PMID:18061974	PMID:18097735	PMID:18177465	PMID:18177471	PMID:18266121
PMID:18300119	PMID:18307385	PMID:18318646	PMID:18328141	PMID:18330885	PMID:18340637	PMID:18353061	PMID:18389382	PMID:18403822	PMID:18496034	PMID:18512793	PMID:18576390
PMID:18577712	PMID:18597091	PMID:18609258	PMID:18648395	PMID:18662100	PMID:18691160	PMID:18725973	PMID:18795391	PMID:18825879	PMID:18832548	PMID:18843775	PMID:18984609
PMID:19014044	PMID:19026119	PMID:19026701	PMID:19033264	PMID:19115056	PMID:19119044	PMID:19158676	PMID:19210876	PMID:19253030	PMID:19262573	PMID:19309279	PMID:19346738
PMID:19373257	PMID:19397405	PMID:19423540	PMID:19449169	PMID:19465590	PMID:19473580	PMID:19479870	PMID:19479871	PMID:19489440	PMID:19494323	PMID:19531756	PMID:19579027
PMID:19641922	PMID:19675583	PMID:19688293	PMID:19714479	PMID:19729025	PMID:19755381	PMID:19762364	PMID:19777236	PMID:19784369	PMID:19820229	PMID:19820675	PMID:19845843
PMID:19863562	PMID:19913121	PMID:19929404	PMID:19934083	PMID:19934105	PMID:19998717	PMID:20008920	PMID:20031469	PMID:20041150	PMID:20113338	PMID:20151816	PMID:20165923
PMID:20177433	PMID:20194447	PMID:20224922	PMID:20301405	PMID:20306331	PMID:20373849	PMID:20391345	PMID:20406964	PMID:20437121	PMID:20438785	PMID:20483145	PMID:20485448
PMID:20506103	PMID:20533539	PMID:20534143	PMID:20549290	PMID:20628086	PMID:20645115	PMID:20669279	PMID:20677014	PMID:20828792	PMID:20845072	PMID:20937419	PMID:21153919
PMID:21179105	PMID:21231959	PMID:21246368	PMID:21284530	PMID:21294448	PMID:21299735	PMID:21366387	PMID:21385537	PMID:21562927	PMID:21615705	PMID:21623663	PMID:21695514
PMID:21789721	PMID:21819621	PMID:21833519	PMID:21873635	PMID:21901355	PMID:22019805	PMID:22037353	PMID:22207183	PMID:22281876	PMID:22337722	PMID:22368275	PMID:22453916
PMID:22467954	PMID:22532615	PMID:22580583	PMID:22614345	PMID:22705602	PMID:22771921	PMID:22783597	PMID:22790142	PMID:22798132	PMID:22808562	PMID:22810105	PMID:22829933
PMID:22884555	PMID:22934972	PMID:22953644	PMID:22960328	PMID:23015306	PMID:23031807	PMID:23053724	PMID:23137073	PMID:23155201	PMID:23164758	PMID:23206693	PMID:23228227
PMID:23269568	PMID:23297013	PMID:23325590	PMID:23356447	PMID:23360841	PMID:23479736	PMID:23505238	PMID:23588594	PMID:23592051	PMID:23633568	PMID:23663176	PMID:23800337
PMID:23812619	PMID:23844200	PMID:23973724	PMID:23981758	PMID:24009456	PMID:24064016	PMID:24071932	PMID:24251727	PMID:24261764	PMID:24381109	PMID:24383976	PMID:24433404
PMID:24564907	PMID:24702757	PMID:24708999	PMID:24712487	PMID:24718488	PMID:24862656	PMID:24929125	PMID:24965843	PMID:24980720	PMID:24981860	PMID:25006247	PMID:25036284
PMID:25127057	PMID:25150514	PMID:25261100	PMID:25286988	PMID:25292286	PMID:25393764	PMID:25394530	PMID:25413357	PMID:25449140	PMID:25536725	PMID:25599741	PMID:25604326
PMID:25617110	PMID:25643856	PMID:25649364	PMID:25671271	PMID:25703702	PMID:25730039	PMID:25887307	PMID:26003477	PMID:26005881	PMID:26025129	PMID:26123310	PMID:26176758
PMID:26347139	PMID:26360812	PMID:26399837	PMID:26400644	PMID:26435068	PMID:26486615	PMID:26487349	PMID:26537665	PMID:26842301	PMID:26892483	PMID:27030597	PMID:27053370
PMID:27066000	PMID:27125729	PMID:27150194	PMID:27225717	PMID:27228648	PMID:27270401	PMID:27364639	PMID:27457448	PMID:27538774	PMID:27587294	PMID:27636101	PMID:27659338
PMID:27693506	PMID:27791951	PMID:27791953	PMID:27796522	PMID:27911804	PMID:27956278	PMID:28001092	PMID:28134085	PMID:28154935	PMID:28340799	PMID:28483595	PMID:28573371
PMID:28590056	PMID:28800602	PMID:28927886	PMID:28943464	PMID:28971640	PMID:29017770	PMID:29031862	PMID:29040788	PMID:29178647	PMID:29196474	PMID:29543225	PMID:29600428
PMID:29642170	PMID:29756710	PMID:30021884	PMID:30171907	PMID:30226974	PMID:30284126	PMID:30355575	PMID:30488432	PMID:30513227	PMID:30557972	PMID:30596757	PMID:30647128
PMID:30652415	PMID:30714637	PMID:30826945	PMID:30850508	PMID:30887796	PMID:30946743	PMID:31171010	PMID:31264586	PMID:31308342	PMID:31401792	PMID:31432226	PMID:31494649
PMID:31512232	PMID:31589380	PMID:31682063	PMID:31897954	PMID:31989427	PMID:32199921	PMID:32359823	PMID:32372681	PMID:32398039	PMID:32401353	PMID:32447396	PMID:32563262
PMID:32601469	PMID:32655537	PMID:32680681	PMID:32741030	PMID:32778116	PMID:32818295	PMID:33025889	PMID:33253105	PMID:33331265	PMID:33497256	PMID:33627208	PMID:33715276
PMID:33733382	PMID:33734159	PMID:33738724	PMID:33819232	PMID:34098104	PMID:34471287	PMID:34491459	PMID:34643647	PMID:34880353	PMID:35098403	PMID:35190924	PMID:35258407
PMID:35306551	PMID:35358658	PMID:35480407	PMID:35551132	PMID:35809153	PMID:36223753	PMID:36273042	PMID:36376520	PMID:36449313	PMID:36537688	PMID:36870084	PMID:36889987
PMID:36898527	PMID:36966139	PMID:37216220	PMID:37286266	PMID:37676738	PMID:37787552	PMID:37951297	PMID:38128830	PMID:38250061	PMID:38482581	PMID:38818540	PMID:39042260
PMID:39262262

Genomics

Comparative Map Data

MEFV
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	3,242,027 - 3,256,633 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	3,242,027 - 3,256,633 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	3,292,027 - 3,306,633 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	3,232,029 - 3,246,628 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	3,232,028 - 3,246,628	NCBI
Celera	16	3,497,690 - 3,512,281 (-)	NCBI		Celera
Cytogenetic Map	16	p13.3	NCBI
HuRef	16	3,261,626 - 3,276,174 (-)	NCBI		HuRef
CHM1_1	16	3,291,965 - 3,306,560 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	16	3,269,087 - 3,283,689 (-)	NCBI		T2T-CHM13v2.0

Mefv
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	16	3,524,838 - 3,536,073 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	16	3,525,082 - 3,535,961 (-)	Ensembl		GRCm39 Ensembl
GRCm38	16	3,706,974 - 3,718,211 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	16	3,707,218 - 3,718,097 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	16	3,707,215 - 3,718,124 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	16	3,622,443 - 3,633,325 (-)	NCBI		MGSCv36	mm8
Celera	16	4,345,682 - 4,356,386 (-)	NCBI		Celera
Cytogenetic Map	16	A1	NCBI
cM Map	16	2.18	NCBI

Mefv
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	12,288,514 - 12,303,337 (+)	NCBI		GRCr8
mRatBN7.2	10	11,786,948 - 11,796,977 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	11,787,422 - 11,796,973 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	16,489,920 - 16,499,472 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	15,978,752 - 15,988,304 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	11,650,621 - 11,660,170 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	12,045,813 - 12,056,229 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	12,046,541 - 12,056,311 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	10,804,440 - 10,813,964 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	12,059,821 - 12,069,345 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	10	12,059,820 - 12,069,345 (+)	NCBI
Celera	10	10,738,861 - 10,748,385 (+)	NCBI		Celera
Cytogenetic Map	10	q12	NCBI

Mefv
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955442	14,068,348 - 14,094,016 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955442	14,068,436 - 14,093,889 (+)	NCBI	ChiLan1.0	ChiLan1.0

MEFV
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	18	3,774,439 - 3,794,189 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	16	7,559,278 - 7,578,952 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	16	2,175,858 - 2,191,056 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	16	3,354,981 - 3,368,970 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	16	3,353,666 - 3,368,970 (-)	Ensembl	panpan1.1		panPan2

MEFV
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	6	37,964,776 - 37,984,830 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	6	37,970,608 - 37,983,737 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
ROS_Cfam_1.0	6	38,276,711 - 38,296,162 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	6	38,282,480 - 38,295,669 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	6	37,962,758 - 37,982,210 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	6	37,935,294 - 37,954,719 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	6	38,410,844 - 38,430,317 (+)	NCBI		UU_Cfam_GSD_1.0

Mefv
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024409344	105,728,858 - 105,739,439 (-)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936694	970,706 - 980,605 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MEFV
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	3	38,934,573 - 38,948,609 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	3	40,322,567 - 40,336,494 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MEFV
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	5	2,971,323 - 2,991,501 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666068	27,841,180 - 27,856,544 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Mefv
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624824	1,035,094 - 1,047,678 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624824	1,035,172 - 1,047,632 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in MEFV
1129 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126794]\|Familial Mediterranean fever [RCV001209535]\|Familial Mediterranean fever [RCV002506272]\|Familial Mediterranean fever, autosomal dominant [RCV003126793]\|not provided [RCV000520467]	Chr16:3249520 [GRCh38] Chr16:3299520 [GRCh37] Chr16:16p13.3	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)	single nucleotide variant	Autoinflammatory syndrome [RCV002262579]\|Familial Mediterranean fever [RCV000989483]\|Familial Mediterranean fever [RCV001281041]\|Familial Mediterranean fever [RCV003224108]\|See cases [RCV002251931]\|not provided [RCV000586627]\|not specified [RCV001526854]	Chr16:3248947 [GRCh38] Chr16:3298947 [GRCh37] Chr16:16p13.3	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000243.3(MEFV):c.1422G>A (p.Glu474=)	single nucleotide variant	Autoinflammatory syndrome [RCV002262580]\|Familial Mediterranean fever [RCV000030172]\|Familial Mediterranean fever, autosomal dominant [RCV001533718]\|Inborn genetic diseases [RCV002390121]\|not provided [RCV001705604]\|not specified [RCV000253062]	Chr16:3247181 [GRCh38] Chr16:3297181 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_000243.3(MEFV):c.1530T>C (p.Asp510=)	single nucleotide variant	Autoinflammatory syndrome [RCV002262583]\|Familial Mediterranean fever [RCV000030175]\|Familial Mediterranean fever, autosomal dominant [RCV001533716]\|Inborn genetic diseases [RCV002399343]\|not provided [RCV001705605]\|not specified [RCV000254381]	Chr16:3247073 [GRCh38] Chr16:3297073 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_000243.3(MEFV):c.1764G>A (p.Pro588=)	single nucleotide variant	Familial Mediterranean fever [RCV000030177]\|Familial Mediterranean fever, autosomal dominant [RCV001533506]\|not provided [RCV001701571]\|not specified [RCV000266471]	Chr16:3243888 [GRCh38] Chr16:3293888 [GRCh37] Chr16:16p13.3	benign\|likely benign
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV001197906]\|Autoinflammatory syndrome [RCV002262585]\|Familial Mediterranean fever [RCV000030178]\|Familial Mediterranean fever [RCV003224109]\|Inborn genetic diseases [RCV002408482]\|not provided [RCV000589464]\|not specified [RCV000214973]	Chr16:3243880 [GRCh38] Chr16:3293880 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV001197705]\|Autoinflammatory syndrome [RCV002262586]\|Familial Mediterranean fever [RCV000030179]\|Familial Mediterranean fever [RCV000515335]\|Familial Mediterranean fever [RCV002477026]\|Familial Mediterranean fever, autosomal dominant [RCV002254152]\|Inborn genetic diseases [RCV002415433]\|MEFV-related disorder [RCV004739312]\|See cases [RCV002251932]\|not provided [RCV000222364]	Chr16:3243447 [GRCh38] Chr16:3293447 [GRCh37] Chr16:16p13.3	pathogenic\|no classifications from unflagged records
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	single nucleotide variant	Autoinflammatory syndrome [RCV002262546]\|Familial Mediterranean fever [RCV000002656]\|Familial Mediterranean fever [RCV000768021]\|Familial Mediterranean fever [RCV003224087]\|Familial Mediterranean fever, autosomal dominant [RCV003389035]\|Heart, malformation of [RCV001270033]\|Inborn genetic diseases [RCV000622573]\|MEFV-related disorder [RCV004739281]\|Syncope [RCV000415431]\|not provided [RCV000213470]\|not specified [RCV000508192]	Chr16:3243403 [GRCh38] Chr16:3293403 [GRCh37] Chr16:16p13.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.2118G>A (p.Pro706=)	single nucleotide variant	Autoinflammatory syndrome [RCV002262587]\|Familial Mediterranean fever [RCV000030181]\|Familial Mediterranean fever, autosomal dominant [RCV001731318]\|Inborn genetic diseases [RCV002415434]\|not provided [RCV001705606]\|not specified [RCV000250856]	Chr16:3243369 [GRCh38] Chr16:3293369 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_000243.3(MEFV):c.306T>C (p.Asp102=)	single nucleotide variant	Autoinflammatory syndrome [RCV002262588]\|Familial Mediterranean fever [RCV000030182]\|Familial Mediterranean fever, autosomal dominant [RCV001533779]\|Inborn genetic diseases [RCV002444447]\|not provided [RCV001355595]\|not specified [RCV000242621]	Chr16:3254762 [GRCh38] Chr16:3304762 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000243.3(MEFV):c.414A>G (p.Gly138=)	single nucleotide variant	Autoinflammatory syndrome [RCV002262589]\|Familial Mediterranean fever [RCV000030183]\|Familial Mediterranean fever [RCV002496463]\|Familial Mediterranean fever, autosomal dominant [RCV001533778]\|Inborn genetic diseases [RCV002326695]\|not provided [RCV001355696]\|not specified [RCV000126740]	Chr16:3254654 [GRCh38] Chr16:3304654 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000243.3(MEFV):c.495C>A (p.Ala165=)	single nucleotide variant	Autoinflammatory syndrome [RCV002262590]\|Familial Mediterranean fever [RCV000030184]\|Familial Mediterranean fever, autosomal dominant [RCV001533777]\|Inborn genetic diseases [RCV002336096]\|not provided [RCV001356984]\|not specified [RCV000242316]	Chr16:3254573 [GRCh38] Chr16:3304573 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln)	single nucleotide variant	Autoinflammatory syndrome [RCV002262591]\|Familial Mediterranean fever [RCV000030185]\|Familial Mediterranean fever, autosomal dominant [RCV001533776]\|Inborn genetic diseases [RCV002354173]\|not provided [RCV001355268]\|not specified [RCV000175564]	Chr16:3254463 [GRCh38] Chr16:3304463 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000243.3(MEFV):c.942C>T (p.Arg314=)	single nucleotide variant	Autoinflammatory syndrome [RCV002262593]\|Familial Mediterranean fever [RCV000030188]\|Familial Mediterranean fever, autosomal dominant [RCV001533775]\|Inborn genetic diseases [RCV002371792]\|not provided [RCV001356539]\|not specified [RCV000243663]	Chr16:3249749 [GRCh38] Chr16:3299749 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000243.3(MEFV):c.97G>T (p.Val33Leu)	single nucleotide variant	Autoinflammatory syndrome [RCV002262594]\|Familial Mediterranean fever [RCV000030189]\|Familial Mediterranean fever [RCV000768268]\|Familial Mediterranean fever [RCV003224110]\|Familial Mediterranean fever, autosomal dominant [RCV001276303]\|not provided [RCV000589938]\|not specified [RCV001290446]	Chr16:3256491 [GRCh38] Chr16:3306491 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV001197704]\|Autoinflammatory syndrome [RCV002262539]\|Brachydactyly [RCV000735306]\|Cryptorchidism [RCV000735284]\|Familial Mediterranean fever [RCV000002647]\|Familial Mediterranean fever [RCV000763381]\|Familial Mediterranean fever [RCV001535935]\|Familial Mediterranean fever, autosomal dominant [RCV001028046]\|Inborn genetic diseases [RCV002415387]\|MEFV-related disorder [RCV003335011]\|Recurrent fever [RCV003325449]\|not provided [RCV000216751]	Chr16:3243407 [GRCh38] Chr16:3243407..3243408 [GRCh38] Chr16:3293407 [GRCh37] Chr16:3293407..3293408 [GRCh37] Chr16:16p13.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)	single nucleotide variant	Autoinflammatory syndrome [RCV002262540]\|Familial Mediterranean fever [RCV000002648]\|Familial Mediterranean fever [RCV000763380]\|Familial Mediterranean fever, autosomal dominant [RCV000589706]\|MEFV-related disorder [RCV004528066]\|not provided [RCV000220431]	Chr16:3243405 [GRCh38] Chr16:3293405 [GRCh37] Chr16:16p13.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)	single nucleotide variant	Autoinflammatory syndrome [RCV002262541]\|Familial Mediterranean fever [RCV000002649]\|Familial Mediterranean fever [RCV000515437]\|Familial Mediterranean fever [RCV001535867]\|Familial Mediterranean fever, autosomal dominant [RCV000984975]\|Inborn genetic diseases [RCV000623003]\|MEFV-related disorder [RCV004739280]\|not provided [RCV000220654]	Chr16:3243310 [GRCh38] Chr16:3293310 [GRCh37] Chr16:16p13.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)	single nucleotide variant	Autoinflammatory syndrome [RCV002262542]\|Familial Mediterranean fever [RCV000002651]\|Familial Mediterranean fever [RCV000768024]\|Familial Mediterranean fever [RCV003224086]\|Familial Mediterranean fever, autosomal dominant [RCV000761446]\|Inborn genetic diseases [RCV002326658]\|MEFV-related disorder [RCV004528067]\|See cases [RCV002251861]\|not provided [RCV000513398]\|not specified [RCV000218652]	Chr16:3254626 [GRCh38] Chr16:3304626 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters\|not provided
NM_000243.2(MEFV):c.2074_2076delATA (p.Ile692del)	deletion	Familial Mediterranean fever [RCV000002655]	Chr16:3243411..3243413 [GRCh38] Chr16:3293411..3293413 [GRCh37] Chr16:16p13.3	pathogenic
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)	single nucleotide variant	Autoinflammatory syndrome [RCV002262549]\|Familial Mediterranean fever [RCV000002659]\|Familial Mediterranean fever [RCV001269325]\|Familial Mediterranean fever, autosomal dominant [RCV001283820]\|MEFV-related disorder [RCV004724727]\|not provided [RCV000216518]	Chr16:3243447 [GRCh38] Chr16:3293447 [GRCh37] Chr16:16p13.3	pathogenic\|conflicting interpretations of pathogenicity\|no classifications from unflagged records
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)	single nucleotide variant	Autoinflammatory syndrome [RCV002262550]\|Familial Mediterranean fever [RCV000002660]\|Inborn genetic diseases [RCV002433442]\|not provided [RCV000416092]\|not specified [RCV000215679]	Chr16:3249586 [GRCh38] Chr16:3299586 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)	single nucleotide variant	Autoinflammatory syndrome [RCV002262551]\|Familial Mediterranean fever [RCV000002661]\|Inborn genetic diseases [RCV002362552]\|not provided [RCV000224408]\|not specified [RCV000218029]	Chr16:3249468 [GRCh38] Chr16:3299468 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del)	microsatellite	Familial Mediterranean fever [RCV000083740]\|Familial Mediterranean fever, autosomal dominant [RCV000002665]\|not provided [RCV000757455]	Chr16:3243404..3243406 [GRCh38] Chr16:3293404..3293406 [GRCh37] Chr16:16p13.3	pathogenic\|conflicting interpretations of pathogenicity\|not provided
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003125827]\|Familial Mediterranean fever [RCV000083696]\|Familial Mediterranean fever, autosomal dominant [RCV000002666]\|not provided [RCV001562614]	Chr16:3247171 [GRCh38] Chr16:3297171 [GRCh37] Chr16:16p13.3	pathogenic\|likely benign\|uncertain significance\|not provided
NM_000243.2(MEFV):c.-330G>A	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003127488]\|Familial Mediterranean fever [RCV003127487]\|Familial Mediterranean fever, autosomal dominant [RCV001276304]\|not provided [RCV000834991]	Chr16:3256917 [GRCh38] Chr16:3306917 [GRCh37] Chr16:16p13.3	benign\|likely benign
NM_000243.3(MEFV):c.1587+5G>T	single nucleotide variant	Familial Mediterranean fever [RCV000545379]	Chr16:3247011 [GRCh38] Chr16:3297011 [GRCh37] Chr16:16p13.3	uncertain significance
NM_000243.3(MEFV):c.2080_2082delinsGTA (p.Met694Val)	indel	not provided [RCV000519280]	Chr16:3243405..3243407 [GRCh38] Chr16:3293405..3293407 [GRCh37] Chr16:16p13.3	pathogenic
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126802]\|Autoinflammatory syndrome [RCV002263738]\|Familial Mediterranean fever [RCV000530643]\|Familial Mediterranean fever [RCV002490968]\|Familial Mediterranean fever, autosomal dominant [RCV003126801]\|not provided [RCV001775848]	Chr16:3247095 [GRCh38] Chr16:3297095 [GRCh37] Chr16:16p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)	single nucleotide variant	Autoinflammatory syndrome [RCV002262543]\|Familial Mediterranean fever [RCV000002652]\|Familial Mediterranean fever, autosomal dominant [RCV001262294]\|not provided [RCV000588525]\|not specified [RCV003230342]	Chr16:3254567 [GRCh38] Chr16:3304567 [GRCh37] Chr16:16p13.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)	single nucleotide variant	Autoinflammatory syndrome [RCV002262544]\|Familial Mediterranean fever [RCV000002653]\|Familial Mediterranean fever, autosomal dominant [RCV001535446]\|MEFV-related disorder [RCV004532273]\|not provided [RCV000996177]\|not specified [RCV000991330]	Chr16:3254268 [GRCh38] Chr16:3304268 [GRCh37] Chr16:16p13.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)	single nucleotide variant	Autoinflammatory syndrome [RCV002262545]\|Familial Mediterranean fever [RCV000002654]\|Familial Mediterranean fever [RCV004771453]\|Familial Mediterranean fever, autosomal dominant [RCV003466786]\|not provided [RCV000508324]\|not specified [RCV003230343]	Chr16:3247166 [GRCh38] Chr16:3297166 [GRCh37] Chr16:16p13.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	single nucleotide variant	Autoinflammatory syndrome [RCV002262547]\|Familial Mediterranean fever [RCV000002657]\|Familial Mediterranean fever [RCV000768020]\|Familial Mediterranean fever [RCV001535864]\|Familial Mediterranean fever, autosomal dominant [RCV001770031]\|Inborn genetic diseases [RCV002415388]\|MEFV-related disorder [RCV004532274]\|not provided [RCV000213702]\|not specified [RCV000999738]	Chr16:3243257 [GRCh38] Chr16:3293257 [GRCh37] Chr16:16p13.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters\|not provided
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)	single nucleotide variant	Autoinflammatory syndrome [RCV002262548]\|Familial Mediterranean fever [RCV000002658]\|Familial Mediterranean fever [RCV000763379]\|Familial Mediterranean fever [RCV001536101]\|Familial Mediterranean fever, autosomal dominant [RCV003466787]\|Inborn genetic diseases [RCV002512683]\|MEFV-related disorder [RCV004739282]\|not provided [RCV000217233]	Chr16:3243205 [GRCh38] Chr16:3293205 [GRCh37] Chr16:16p13.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|not provided
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)	single nucleotide variant	Familial Mediterranean fever [RCV000002662]\|Familial Mediterranean fever, autosomal dominant [RCV003466788]\|not provided [RCV000255083]	Chr16:3243529 [GRCh38] Chr16:3293529 [GRCh37] Chr16:16p13.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_000243.3(MEFV):c.443A>T (p.Glu148Val)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003125826]\|Autoinflammatory syndrome [RCV002262552]\|Familial Mediterranean fever [RCV000002663]\|Familial Mediterranean fever [RCV002482818]\|Familial Mediterranean fever, autosomal dominant [RCV003125825]\|not provided [RCV000415966]\|not specified [RCV000216721]	Chr16:3254625 [GRCh38] Chr16:3304625 [GRCh37] Chr16:16p13.3	pathogenic\|benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters\|not provided
NM_000243.3(MEFV):c.1016C>T (p.Ser339Phe)	single nucleotide variant	Autoinflammatory syndrome [RCV002262577]\|Familial Mediterranean fever [RCV000030169]\|Familial Mediterranean fever, autosomal dominant [RCV003466877]\|MEFV-related disorder [RCV004739311]\|not provided [RCV000366739]\|not specified [RCV001001441]	Chr16:3249675 [GRCh38] Chr16:3299675 [GRCh37] Chr16:16p13.3	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000243.3(MEFV):c.1260+10C>T	single nucleotide variant	Autoinflammatory syndrome [RCV002262578]\|Familial Mediterranean fever [RCV000030170]\|Familial Mediterranean fever [RCV001280974]\|Familial Mediterranean fever [RCV003224107]\|not provided [RCV001705603]\|not specified [RCV001000668]	Chr16:3249421 [GRCh38] Chr16:3299421 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000243.3(MEFV):c.1503C>T (p.Arg501=)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003125840]\|Autoinflammatory syndrome [RCV002262581]\|Familial Mediterranean fever [RCV000030173]\|Familial Mediterranean fever, autosomal dominant [RCV003125839]\|Inborn genetic diseases [RCV002390122]\|not provided [RCV001689576]\|not specified [RCV000251198]	Chr16:3247100 [GRCh38] Chr16:3297100 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_000243.3(MEFV):c.1518C>T (p.Ile506=)	single nucleotide variant	Autoinflammatory syndrome [RCV002262582]\|Familial Mediterranean fever [RCV000030174]\|Inborn genetic diseases [RCV002390123]\|not provided [RCV001532317]\|not specified [RCV000126736]	Chr16:3247085 [GRCh38] Chr16:3297085 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.1759+8C>T	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003125842]\|Autoinflammatory syndrome [RCV002262584]\|Familial Mediterranean fever [RCV000030176]\|Familial Mediterranean fever, autosomal dominant [RCV003125841]\|not provided [RCV001811211]\|not specified [RCV000180116]	Chr16:3244246 [GRCh38] Chr16:3294246 [GRCh37] Chr16:16p13.3	benign\|likely benign
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)	single nucleotide variant	Autoinflammatory syndrome [RCV002262592]\|Familial Mediterranean fever [RCV000030186]\|MEFV-related disorder [RCV004532422]\|not provided [RCV000414140]\|not specified [RCV000508393]	Chr16:3254158 [GRCh38] Chr16:3304158 [GRCh37] Chr16:16p13.3	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.941G>A (p.Arg314His)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003125844]\|Familial Mediterranean fever [RCV000030187]\|Familial Mediterranean fever, autosomal dominant [RCV003125843]\|not provided [RCV003480037]	Chr16:3249750 [GRCh38] Chr16:3299750 [GRCh37] Chr16:16p13.3	likely pathogenic\|likely benign\|uncertain significance
NM_000243.3(MEFV):c.1910A>G (p.Asp637Gly)	single nucleotide variant	Familial Mediterranean fever [RCV000049555]	Chr16:3243577 [GRCh38] Chr16:3293577 [GRCh37] Chr16:16p13.3	uncertain significance\|not provided
NM_000243.3(MEFV):c.1949C>A (p.Ser650Tyr)	single nucleotide variant	Familial Mediterranean fever [RCV000049556]	Chr16:3243538 [GRCh38] Chr16:3293538 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.1996A>G (p.Ile666Val)	single nucleotide variant	Familial Mediterranean fever [RCV000049557]	Chr16:3243491 [GRCh38] Chr16:3293491 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp)	single nucleotide variant	Familial Mediterranean fever [RCV000049558]\|not provided [RCV000216370]	Chr16:3243427 [GRCh38] Chr16:3293427 [GRCh37] Chr16:16p13.3	pathogenic\|uncertain significance\|not provided
NM_000243.3(MEFV):c.2305C>G (p.Pro769Ala)	single nucleotide variant	Familial Mediterranean fever [RCV000049559]	Chr16:3243182 [GRCh38] Chr16:3293182 [GRCh37] Chr16:16p13.3	uncertain significance\|not provided
NM_000243.3(MEFV):c.314C>A (p.Ala105Glu)	single nucleotide variant	Familial Mediterranean fever [RCV000049560]	Chr16:3254754 [GRCh38] Chr16:3304754 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.688G>C (p.Glu230Gln)	single nucleotide variant	Familial Mediterranean fever [RCV000049561]	Chr16:3254380 [GRCh38] Chr16:3304380 [GRCh37] Chr16:16p13.3	uncertain significance\|not provided
NM_000243.3(MEFV):c.863C>A (p.Ser288Tyr)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003125890]\|Familial Mediterranean fever [RCV000049562]\|Familial Mediterranean fever [RCV002483065]\|Familial Mediterranean fever, autosomal dominant [RCV003125889]	Chr16:3254205 [GRCh38] Chr16:3304205 [GRCh37] Chr16:16p13.3	likely benign\|uncertain significance\|not provided
NM_000243.3(MEFV):c.866C>A (p.Ala289Glu)	single nucleotide variant	Familial Mediterranean fever [RCV000049563]	Chr16:3254202 [GRCh38] Chr16:3304202 [GRCh37] Chr16:16p13.3	uncertain significance\|not provided
GRCh38/hg38 16p13.3(chr16:2326840-3487106)x3	copy number gain	See cases [RCV000052394]	Chr16:2326840..3487106 [GRCh38] Chr16:2376841..3537106 [GRCh37] Chr16:2316842..3477107 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3	copy number gain	See cases [RCV000052395]	Chr16:2717952..4041020 [GRCh38] Chr16:2767953..4091021 [GRCh37] Chr16:2707954..4031022 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	copy number gain	See cases [RCV000052367]	Chr16:23141..11296695 [GRCh38] Chr16:73141..11390552 [GRCh37] Chr16:13141..11298053 [NCBI36] Chr16:16p13.3-13.13	pathogenic
GRCh38/hg38 16p13.3(chr16:2494804-3246579)x1	copy number loss	See cases [RCV000053269]	Chr16:2494804..3246579 [GRCh38] Chr16:2544805..3296579 [GRCh37] Chr16:2484806..3236580 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	copy number loss	See cases [RCV000053270]	Chr16:2850734..7110697 [GRCh38] Chr16:2900735..7160698 [GRCh37] Chr16:2840736..7100699 [NCBI36] Chr16:16p13.3	pathogenic
NM_000243.2(MEFV):c.197C>T (p.Ala66Val)	single nucleotide variant	Malignant melanoma [RCV000071116]	Chr16:3256391 [GRCh38] Chr16:3306391 [GRCh37] Chr16:3246392 [NCBI36] Chr16:16p13.3	not provided
NM_000243.2(MEFV):c.1513G>A (p.Asp505Asn)	single nucleotide variant	Malignant melanoma [RCV000063028]	Chr16:3247090 [GRCh38] Chr16:3297090 [GRCh37] Chr16:3237091 [NCBI36] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.334dup (p.Glu112fs)	duplication	Familial Mediterranean fever [RCV000083770]	Chr16:3254733..3254734 [GRCh38] Chr16:3304733..3304734 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr)	single nucleotide variant	Autoinflammatory syndrome [RCV002262627]\|Familial Mediterranean fever [RCV000083246]\|not provided [RCV000221844]\|not specified [RCV001193206]	Chr16:3254725 [GRCh38] Chr16:3304725 [GRCh37] Chr16:16p13.3	conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.*12T>C	single nucleotide variant	Familial Mediterranean fever [RCV000083676]	Chr16:3243129 [GRCh38] Chr16:3293129 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.*21C>G	single nucleotide variant	Familial Mediterranean fever [RCV000083677]	Chr16:3243120 [GRCh38] Chr16:3293120 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.-12C>G	single nucleotide variant	Familial Mediterranean fever [RCV000083678]	Chr16:3256599 [GRCh38] Chr16:3306599 [GRCh37] Chr16:16p13.3	uncertain significance\|not provided
NM_000243.3(MEFV):c.1043G>A (p.Arg348His)	single nucleotide variant	Autoinflammatory syndrome [RCV002262629]\|Familial Mediterranean fever [RCV000083679]\|not provided [RCV000755567]\|not specified [RCV000417776]	Chr16:3249648 [GRCh38] Chr16:3299648 [GRCh37] Chr16:16p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.1056C>T (p.Cys352=)	single nucleotide variant	Familial Mediterranean fever [RCV000083680]\|See cases [RCV002251974]	Chr16:3249635 [GRCh38] Chr16:3299635 [GRCh37] Chr16:16p13.3	likely benign\|uncertain significance\|not provided
NM_000243.3(MEFV):c.1060C>T (p.Arg354Trp)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126416]\|Familial Mediterranean fever [RCV000083681]\|Familial Mediterranean fever [RCV002483159]\|Familial Mediterranean fever, autosomal dominant [RCV003126415]\|not provided [RCV003480054]	Chr16:3249631 [GRCh38] Chr16:3299631 [GRCh37] Chr16:16p13.3	likely benign\|uncertain significance\|not provided
NM_000243.3(MEFV):c.1089C>T (p.Ser363=)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126418]\|Familial Mediterranean fever [RCV000083682]\|Familial Mediterranean fever, autosomal dominant [RCV003126417]\|not specified [RCV000615290]	Chr16:3249602 [GRCh38] Chr16:3299602 [GRCh37] Chr16:16p13.3	likely benign\|conflicting interpretations of pathogenicity\|not provided
NM_000243.3(MEFV):c.1091C>T (p.Pro364Leu)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126420]\|Autoinflammatory syndrome [RCV002262630]\|Familial Mediterranean fever [RCV000083683]\|Familial Mediterranean fever [RCV002490734]\|Familial Mediterranean fever, autosomal dominant [RCV003126419]	Chr16:3249600 [GRCh38] Chr16:3299600 [GRCh37] Chr16:16p13.3	benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.1147C>A (p.Gln383Lys)	single nucleotide variant	Familial Mediterranean fever [RCV000083684]	Chr16:3249544 [GRCh38] Chr16:3299544 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.1179C>T (p.Pro393=)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126422]\|Familial Mediterranean fever [RCV000083685]\|Familial Mediterranean fever [RCV002490735]\|Familial Mediterranean fever, autosomal dominant [RCV003126421]\|not specified [RCV001192541]	Chr16:3249512 [GRCh38] Chr16:3299512 [GRCh37] Chr16:16p13.3	likely benign\|conflicting interpretations of pathogenicity\|not provided
NM_000243.3(MEFV):c.1245C>T (p.Val415=)	single nucleotide variant	Autoinflammatory syndrome [RCV002262631]\|Familial Mediterranean fever [RCV000083686]\|Inborn genetic diseases [RCV002390249]\|not provided [RCV000877404]\|not specified [RCV000590208]	Chr16:3249446 [GRCh38] Chr16:3299446 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.1260+18G>C	single nucleotide variant	Familial Mediterranean fever [RCV000083687]	Chr16:3249413 [GRCh38] Chr16:3299413 [GRCh37] Chr16:16p13.3	likely benign\|not provided
NM_000243.3(MEFV):c.1260+92G>A	single nucleotide variant	Familial Mediterranean fever [RCV000083688]\|not provided [RCV001664394]	Chr16:3249339 [GRCh38] Chr16:3299339 [GRCh37] Chr16:16p13.3	benign\|not provided
NM_000243.3(MEFV):c.1261-11T>G	single nucleotide variant	Familial Mediterranean fever [RCV000083689]\|not provided [RCV001537822]\|not specified [RCV000428464]	Chr16:3249015 [GRCh38] Chr16:3299015 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.1261-28A>G	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126424]\|Central core myopathy [RCV001258254]\|Familial Mediterranean fever [RCV000083690]\|Familial Mediterranean fever, autosomal dominant [RCV003126423]\|not provided [RCV001711585]	Chr16:3249032 [GRCh38] Chr16:3299032 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|not provided
NM_000243.3(MEFV):c.1267A>G (p.Ile423Val)	single nucleotide variant	Familial Mediterranean fever [RCV000083691]	Chr16:3248998 [GRCh38] Chr16:3298998 [GRCh37] Chr16:16p13.3	uncertain significance\|not provided
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)	single nucleotide variant	Familial Mediterranean fever [RCV000083692]\|Familial Mediterranean fever [RCV001280972]\|Familial Mediterranean fever [RCV003224140]\|not provided [RCV000512979]\|not specified [RCV000855597]	Chr16:3247233 [GRCh38] Chr16:3297233 [GRCh37] Chr16:16p13.3	conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.1405G>T (p.Val469Leu)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126426]\|Familial Mediterranean fever [RCV000083693]\|Familial Mediterranean fever, autosomal dominant [RCV003126425]\|not specified [RCV001553681]	Chr16:3247198 [GRCh38] Chr16:3297198 [GRCh37] Chr16:16p13.3	likely benign\|uncertain significance\|not provided
NM_000243.3(MEFV):c.1413C>A (p.Tyr471Ter)	single nucleotide variant	Familial Mediterranean fever [RCV000083694]	Chr16:3247190 [GRCh38] Chr16:3297190 [GRCh37] Chr16:16p13.3	uncertain significance\|not provided
NM_000243.3(MEFV):c.1420G>A (p.Glu474Lys)	single nucleotide variant	Familial Mediterranean fever [RCV000083695]	Chr16:3247183 [GRCh38] Chr16:3297183 [GRCh37] Chr16:16p13.3	uncertain significance\|not provided
NM_000243.3(MEFV):c.1459G>A (p.Val487Met)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126428]\|Familial Mediterranean fever [RCV000083697]\|Familial Mediterranean fever [RCV002477245]\|Familial Mediterranean fever, autosomal dominant [RCV003126427]	Chr16:3247144 [GRCh38] Chr16:3297144 [GRCh37] Chr16:16p13.3	benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.1467G>A (p.Gln489=)	single nucleotide variant	Autoinflammatory syndrome [RCV002262632]\|Familial Mediterranean fever [RCV000083698]\|Inborn genetic diseases [RCV002390250]\|not provided [RCV000590572]\|not specified [RCV000126746]	Chr16:3247136 [GRCh38] Chr16:3297136 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|not provided
NM_000243.3(MEFV):c.1501C>G (p.Arg501Gly)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126430]\|Familial Mediterranean fever [RCV000083699]\|Familial Mediterranean fever [RCV002483160]\|Familial Mediterranean fever, autosomal dominant [RCV003126429]	Chr16:3247102 [GRCh38] Chr16:3297102 [GRCh37] Chr16:16p13.3	likely benign\|uncertain significance\|not provided
NM_000243.3(MEFV):c.1502G>A (p.Arg501His)	single nucleotide variant	Autoinflammatory syndrome [RCV002262633]\|Familial Mediterranean fever [RCV000083700]\|not specified [RCV001192542]	Chr16:3247101 [GRCh38] Chr16:3297101 [GRCh37] Chr16:16p13.3	likely benign\|uncertain significance\|not provided
NM_000243.3(MEFV):c.1516A>G (p.Ile506Val)	single nucleotide variant	Familial Mediterranean fever [RCV000083701]	Chr16:3247087 [GRCh38] Chr16:3297087 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.1538T>C (p.Ile513Thr)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126432]\|Familial Mediterranean fever [RCV000083702]\|Familial Mediterranean fever, autosomal dominant [RCV003126431]\|not provided [RCV001753485]	Chr16:3247065 [GRCh38] Chr16:3297065 [GRCh37] Chr16:16p13.3	benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.1541G>A (p.Gly514Glu)	single nucleotide variant	Familial Mediterranean fever [RCV000083703]	Chr16:3247062 [GRCh38] Chr16:3297062 [GRCh37] Chr16:16p13.3	uncertain significance\|not provided
NM_000243.3(MEFV):c.1587+29G>T	single nucleotide variant	Familial Mediterranean fever [RCV000083704]	Chr16:3246987 [GRCh38] Chr16:3296987 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.1675C>T (p.Leu559Phe)	single nucleotide variant	Familial Mediterranean fever [RCV000083705]	Chr16:3244524 [GRCh38] Chr16:3294524 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.1727-58T>C	single nucleotide variant	Familial Mediterranean fever [RCV000083706]	Chr16:3244344 [GRCh38] Chr16:3294344 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.1729A>T (p.Thr577Ser)	single nucleotide variant	Familial Mediterranean fever [RCV000083707]	Chr16:3244284 [GRCh38] Chr16:3294284 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126434]\|Autoinflammatory syndrome [RCV002262634]\|Familial Mediterranean fever [RCV000083708]\|Familial Mediterranean fever [RCV002483161]\|Familial Mediterranean fever, autosomal dominant [RCV003126433]\|not specified [RCV003488380]	Chr16:3244269 [GRCh38] Chr16:3294269 [GRCh37] Chr16:16p13.3	likely benign\|uncertain significance\|not provided
NM_000243.3(MEFV):c.1760-28T>A	single nucleotide variant	Familial Mediterranean fever [RCV000083709]\|not provided [RCV001701499]	Chr16:3243920 [GRCh38] Chr16:3293920 [GRCh37] Chr16:16p13.3	benign\|likely benign\|not provided
NM_000243.3(MEFV):c.1760-4G>A	single nucleotide variant	Autoinflammatory syndrome [RCV002262635]\|Familial Mediterranean fever [RCV000083710]\|not provided [RCV001572991]\|not specified [RCV000246189]	Chr16:3243896 [GRCh38] Chr16:3293896 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|not provided
NM_000243.3(MEFV):c.1776C>T (p.Gly592=)	single nucleotide variant	Familial Mediterranean fever [RCV000083711]\|not provided [RCV000285170]	Chr16:3243876 [GRCh38] Chr16:3293876 [GRCh37] Chr16:16p13.3	likely benign\|uncertain significance\|not provided
NM_000243.3(MEFV):c.1784C>T (p.Ala595Val)	single nucleotide variant	Familial Mediterranean fever [RCV000083712]	Chr16:3243868 [GRCh38] Chr16:3293868 [GRCh37] Chr16:16p13.3	uncertain significance\|not provided
NM_000243.3(MEFV):c.1792+39G>A	single nucleotide variant	Familial Mediterranean fever [RCV000083713]	Chr16:3243821 [GRCh38] Chr16:3293821 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.1792+57C>T	single nucleotide variant	Familial Mediterranean fever [RCV000083714]	Chr16:3243803 [GRCh38] Chr16:3293803 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.1793-14A>G	single nucleotide variant	Familial Mediterranean fever [RCV000083715]	Chr16:3243708 [GRCh38] Chr16:3293708 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126436]\|Autoinflammatory syndrome [RCV002262636]\|Familial Mediterranean fever [RCV000083716]\|Familial Mediterranean fever [RCV002505013]\|Familial Mediterranean fever, autosomal dominant [RCV003126435]\|not provided [RCV000218478]	Chr16:3243692 [GRCh38] Chr16:3293692 [GRCh37] Chr16:16p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.1818C>T (p.Thr606=)	single nucleotide variant	Familial Mediterranean fever [RCV000083717]	Chr16:3243669 [GRCh38] Chr16:3293669 [GRCh37] Chr16:16p13.3	likely benign\|not provided
NM_000243.3(MEFV):c.1827C>G (p.Pro609=)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126438]\|Familial Mediterranean fever [RCV000083718]\|Familial Mediterranean fever, autosomal dominant [RCV003126437]\|not provided [RCV000834990]\|not specified [RCV001797624]	Chr16:3243660 [GRCh38] Chr16:3293660 [GRCh37] Chr16:16p13.3	likely benign\|conflicting interpretations of pathogenicity\|not provided
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser)	single nucleotide variant	Familial Mediterranean fever [RCV000083719]\|Familial Mediterranean fever [RCV000763382]\|Familial Mediterranean fever [RCV003224141]\|Familial Mediterranean fever, autosomal dominant [RCV003447490]\|not provided [RCV001811392]	Chr16:3243593 [GRCh38] Chr16:3293593 [GRCh37] Chr16:16p13.3	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.1920C>G (p.Ile640Met)	single nucleotide variant	Familial Mediterranean fever [RCV000083720]\|not specified [RCV003987359]	Chr16:3243567 [GRCh38] Chr16:3293567 [GRCh37] Chr16:16p13.3	uncertain significance\|not provided
NM_000243.3(MEFV):c.1921A>T (p.Ile641Phe)	single nucleotide variant	Familial Mediterranean fever [RCV000083721]	Chr16:3243566 [GRCh38] Chr16:3293566 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.1937C>T (p.Pro646Leu)	single nucleotide variant	Familial Mediterranean fever [RCV000083722]	Chr16:3243550 [GRCh38] Chr16:3293550 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.1938G>A (p.Pro646=)	single nucleotide variant	Familial Mediterranean fever [RCV000083723]	Chr16:3243549 [GRCh38] Chr16:3293549 [GRCh37] Chr16:16p13.3	likely benign\|not provided
NM_000243.3(MEFV):c.1946T>C (p.Leu649Pro)	single nucleotide variant	Familial Mediterranean fever [RCV000083724]	Chr16:3243541 [GRCh38] Chr16:3293541 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.1956C>A (p.Arg652=)	single nucleotide variant	Autoinflammatory syndrome [RCV002262637]\|Familial Mediterranean fever [RCV000083725]	Chr16:3243531 [GRCh38] Chr16:3293531 [GRCh37] Chr16:16p13.3	likely benign\|uncertain significance\|not provided
NM_000243.3(MEFV):c.195C>T (p.Tyr65=)	single nucleotide variant	Autoinflammatory syndrome [RCV002262638]\|Familial Mediterranean fever [RCV000083726]\|Inborn genetic diseases [RCV003352768]\|not provided [RCV001705807]\|not specified [RCV000587862]	Chr16:3256393 [GRCh38] Chr16:3306393 [GRCh37] Chr16:16p13.3	benign\|likely benign\|uncertain significance\|not provided
NM_000243.3(MEFV):c.1967A>C (p.Glu656Ala)	single nucleotide variant	Familial Mediterranean fever [RCV000083727]	Chr16:3243520 [GRCh38] Chr16:3293520 [GRCh37] Chr16:16p13.3	uncertain significance\|not provided
NM_000243.3(MEFV):c.1975G>T (p.Val659Phe)	single nucleotide variant	Familial Mediterranean fever [RCV000083728]	Chr16:3243512 [GRCh38] Chr16:3293512 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.1981G>A (p.Asp661Asn)	single nucleotide variant	Familial Mediterranean fever [RCV000083729]	Chr16:3243506 [GRCh38] Chr16:3293506 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.2024G>A (p.Ser675Asn)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126440]\|Familial Mediterranean fever [RCV000083730]\|Familial Mediterranean fever [RCV000768022]\|Familial Mediterranean fever [RCV003224142]\|Familial Mediterranean fever, autosomal dominant [RCV003126439]	Chr16:3243463 [GRCh38] Chr16:3293463 [GRCh37] Chr16:16p13.3	likely benign\|uncertain significance\|not provided
NM_000243.3(MEFV):c.2033G>A (p.Gly678Glu)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126442]\|Familial Mediterranean fever [RCV000083731]\|Familial Mediterranean fever [RCV002498439]\|Familial Mediterranean fever, autosomal dominant [RCV003126441]\|not provided [RCV000414076]	Chr16:3243454 [GRCh38] Chr16:3293454 [GRCh37] Chr16:16p13.3	likely benign\|uncertain significance\|not provided
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu)	single nucleotide variant	Familial Mediterranean fever [RCV000083732]	Chr16:3243449 [GRCh38] Chr16:3293449 [GRCh37] Chr16:16p13.3	likely pathogenic\|conflicting interpretations of pathogenicity\|not provided
NM_000243.3(MEFV):c.2042C>T (p.Thr681Ile)	single nucleotide variant	Familial Mediterranean fever [RCV000083733]	Chr16:3243445 [GRCh38] Chr16:3293445 [GRCh37] Chr16:16p13.3	uncertain significance\|not provided
NM_000243.3(MEFV):c.2049G>A (p.Ser683=)	single nucleotide variant	Autoinflammatory syndrome [RCV002262639]\|Familial Mediterranean fever [RCV000083734]\|Inborn genetic diseases [RCV002415584]\|not provided [RCV001705808]\|not specified [RCV001000131]	Chr16:3243438 [GRCh38] Chr16:3293438 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.2063A>G (p.Tyr688Cys)	single nucleotide variant	Familial Mediterranean fever [RCV000083735]	Chr16:3243424 [GRCh38] Chr16:3293424 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.2064C>G (p.Tyr688Ter)	single nucleotide variant	Familial Mediterranean fever [RCV000083736]	Chr16:3243423 [GRCh38] Chr16:3293423 [GRCh37] Chr16:16p13.3	pathogenic\|uncertain significance\|not provided
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)	deletion	Autoinflammatory syndrome [RCV002262640]\|Familial Mediterranean fever [RCV000083737]\|Familial Mediterranean fever, autosomal dominant [RCV003460764]\|not provided [RCV000487146]	Chr16:3243409..3243411 [GRCh38] Chr16:3293409..3293411 [GRCh37] Chr16:16p13.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.2079G>C (p.Met693Ile)	single nucleotide variant	Familial Mediterranean fever [RCV000083738]	Chr16:3243408 [GRCh38] Chr16:3293408 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.2080A>T (p.Met694Leu)	single nucleotide variant	Familial Mediterranean fever [RCV000083739]	Chr16:3243407 [GRCh38] Chr16:3293407 [GRCh37] Chr16:16p13.3	uncertain significance\|not provided
NM_000243.2(MEFV):c.2081_2083delTGA (p.Met694del)	deletion	Familial Mediterranean fever [RCV000083740]	Chr16:3243404..3243406 [GRCh38] Chr16:3293404..3293406 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.2084A>T (p.Lys695Met)	single nucleotide variant	Familial Mediterranean fever [RCV000083741]	Chr16:3243403 [GRCh38] Chr16:3293403 [GRCh37] Chr16:16p13.3	uncertain significance\|not provided
NM_000243.3(MEFV):c.2085G>C (p.Lys695Asn)	single nucleotide variant	Familial Mediterranean fever [RCV000083742]\|not specified [RCV001001442]	Chr16:3243402 [GRCh38] Chr16:3293402 [GRCh37] Chr16:16p13.3	likely pathogenic\|uncertain significance\|not provided
NM_000243.3(MEFV):c.2103G>A (p.Ala701=)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126444]\|Familial Mediterranean fever [RCV000083743]\|Familial Mediterranean fever, autosomal dominant [RCV003126443]\|not provided [RCV003415854]\|not specified [RCV000126739]	Chr16:3243384 [GRCh38] Chr16:3293384 [GRCh37] Chr16:16p13.3	benign\|likely benign\|not provided
NM_000243.3(MEFV):c.2105C>G (p.Ser702Cys)	single nucleotide variant	Familial Mediterranean fever [RCV000083744]	Chr16:3243382 [GRCh38] Chr16:3293382 [GRCh37] Chr16:16p13.3	uncertain significance\|not provided
NM_000243.3(MEFV):c.2109C>T (p.Ser703=)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126446]\|Familial Mediterranean fever [RCV000083745]\|Familial Mediterranean fever [RCV002498440]\|Familial Mediterranean fever, autosomal dominant [RCV003126445]\|not provided [RCV001539987]	Chr16:3243378 [GRCh38] Chr16:3293378 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|not provided
NM_000243.3(MEFV):c.2110G>A (p.Val704Ile)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126448]\|Familial Mediterranean fever [RCV000083746]\|Familial Mediterranean fever, autosomal dominant [RCV003126447]	Chr16:3243377 [GRCh38] Chr16:3293377 [GRCh37] Chr16:16p13.3	likely benign\|uncertain significance\|not provided
NM_000243.3(MEFV):c.2113C>T (p.Pro705Ser)	single nucleotide variant	Familial Mediterranean fever [RCV000083747]	Chr16:3243374 [GRCh38] Chr16:3293374 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126450]\|Autoinflammatory syndrome [RCV002262641]\|Familial Mediterranean fever [RCV000083748]\|Familial Mediterranean fever, autosomal dominant [RCV003126449]\|not specified [RCV000780404]	Chr16:3243365 [GRCh38] Chr16:3293365 [GRCh37] Chr16:16p13.3	likely benign\|uncertain significance\|not provided
NM_000243.3(MEFV):c.2126T>G (p.Leu709Arg)	single nucleotide variant	Familial Mediterranean fever [RCV000083749]	Chr16:3243361 [GRCh38] Chr16:3293361 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.2149C>A (p.Arg717Ser)	single nucleotide variant	Familial Mediterranean fever [RCV000083750]	Chr16:3243338 [GRCh38] Chr16:3293338 [GRCh37] Chr16:16p13.3	uncertain significance\|not provided
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126452]\|Familial Mediterranean fever [RCV000083751]\|Familial Mediterranean fever, autosomal dominant [RCV003126451]\|MEFV-related disorder [RCV004529874]\|not specified [RCV000780406]	Chr16:3243327 [GRCh38] Chr16:3293327 [GRCh37] Chr16:16p13.3	benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.2164G>A (p.Val722Met)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126454]\|Familial Mediterranean fever [RCV000083752]\|Familial Mediterranean fever, autosomal dominant [RCV003126453]\|not provided [RCV001701661]\|not specified [RCV001175016]	Chr16:3243323 [GRCh38] Chr16:3293323 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.2169C>T (p.Asp723=)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126456]\|Familial Mediterranean fever [RCV000083753]\|Familial Mediterranean fever, autosomal dominant [RCV003126455]\|not specified [RCV000780403]	Chr16:3243318 [GRCh38] Chr16:3293318 [GRCh37] Chr16:16p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.2228T>A (p.Phe743Tyr)	single nucleotide variant	Familial Mediterranean fever [RCV000083754]	Chr16:3243259 [GRCh38] Chr16:3293259 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126458]\|Familial Mediterranean fever [RCV000083755]\|Familial Mediterranean fever [RCV002483162]\|Familial Mediterranean fever, autosomal dominant [RCV003126457]\|not provided [RCV003133133]	Chr16:3243258 [GRCh38] Chr16:3293258 [GRCh37] Chr16:16p13.3	likely benign\|uncertain significance\|not provided
NM_000243.3(MEFV):c.2229C>T (p.Phe743=)	single nucleotide variant	Familial Mediterranean fever [RCV000083756]	Chr16:3243258 [GRCh38] Chr16:3293258 [GRCh37] Chr16:16p13.3	likely benign\|not provided
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126460]\|Familial Mediterranean fever [RCV000083757]\|Familial Mediterranean fever [RCV002498441]\|Familial Mediterranean fever, autosomal dominant [RCV003126459]\|not provided [RCV000520754]\|not specified [RCV001000179]	Chr16:3243241 [GRCh38] Chr16:3293241 [GRCh37] Chr16:16p13.3	likely benign\|uncertain significance\|not provided
NM_000243.3(MEFV):c.2259A>G (p.Gln753=)	single nucleotide variant	Familial Mediterranean fever [RCV000083758]\|Inborn genetic diseases [RCV002444554]	Chr16:3243228 [GRCh38] Chr16:3293228 [GRCh37] Chr16:16p13.3	likely benign\|uncertain significance\|not provided
NM_000243.3(MEFV):c.2263A>G (p.Ile755Val)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126462]\|Familial Mediterranean fever [RCV000083759]\|Familial Mediterranean fever [RCV002483163]\|Familial Mediterranean fever, autosomal dominant [RCV003126461]\|not provided [RCV001562685]	Chr16:3243224 [GRCh38] Chr16:3293224 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.2272C>T (p.Pro758Ser)	single nucleotide variant	Familial Mediterranean fever [RCV000083760]	Chr16:3243215 [GRCh38] Chr16:3293215 [GRCh37] Chr16:16p13.3	not provided
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126464]\|Familial Mediterranean fever [RCV000083761]\|Familial Mediterranean fever [RCV002498442]\|Familial Mediterranean fever, autosomal dominant [RCV003126463]\|not provided [RCV000223191]	Chr16:3243173 [GRCh38] Chr16:3293173 [GRCh37] Chr16:16p13.3	benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.2337G>C (p.Gly779=)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126466]\|Familial Mediterranean fever [RCV000083762]\|Familial Mediterranean fever, autosomal dominant [RCV003126465]\|Inborn genetic diseases [RCV002444555]\|not provided [RCV001704008]	Chr16:3243150 [GRCh38] Chr16:3293150 [GRCh37] Chr16:16p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126468]\|Autoinflammatory syndrome [RCV002262642]\|Familial Mediterranean fever [RCV000083763]\|Familial Mediterranean fever, autosomal dominant [RCV003126467]\|not provided [RCV000217446]\|not specified [RCV002298469]	Chr16:3243149 [GRCh38] Chr16:3293149 [GRCh37] Chr16:16p13.3	benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.25C>T (p.Leu9=)	single nucleotide variant	Familial Mediterranean fever [RCV000083764]	Chr16:3256563 [GRCh38] Chr16:3306563 [GRCh37] Chr16:16p13.3	uncertain significance\|not provided
NM_000243.3(MEFV):c.265G>A (p.Ala89Thr)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126470]\|Familial Mediterranean fever [RCV000083765]\|Familial Mediterranean fever [RCV002483164]\|Familial Mediterranean fever, autosomal dominant [RCV003126469]\|not specified [RCV002281918]	Chr16:3256323 [GRCh38] Chr16:3306323 [GRCh37] Chr16:16p13.3	likely benign\|uncertain significance\|not provided
NM_000243.3(MEFV):c.297C>T (p.Asn99=)	single nucleotide variant	Autoinflammatory syndrome [RCV002262643]\|Familial Mediterranean fever [RCV000083766]\|Familial Mediterranean fever, autosomal dominant [RCV001276302]\|Inborn genetic diseases [RCV002433593]\|MEFV-related disorder [RCV004542800]\|not provided [RCV001705809]\|not specified [RCV000588269]	Chr16:3254771 [GRCh38] Chr16:3304771 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126472]\|Autoinflammatory syndrome [RCV002262644]\|Familial Mediterranean fever [RCV000083767]\|Familial Mediterranean fever [RCV002477246]\|Familial Mediterranean fever, autosomal dominant [RCV003126471]\|Inborn genetic diseases [RCV002321581]\|not provided [RCV000586697]\|not specified [RCV001000180]	Chr16:3254746 [GRCh38] Chr16:3304746 [GRCh37] Chr16:16p13.3	pathogenic\|likely benign\|uncertain significance\|not provided
NM_000243.3(MEFV):c.330G>A (p.Leu110=)	single nucleotide variant	Familial Mediterranean fever [RCV000083768]\|not specified [RCV001175450]	Chr16:3254738 [GRCh38] Chr16:3304738 [GRCh37] Chr16:16p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.333G>A (p.Gly111=)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126474]\|Autoinflammatory syndrome [RCV002262645]\|Familial Mediterranean fever [RCV000083769]\|Familial Mediterranean fever, autosomal dominant [RCV003126473]\|Inborn genetic diseases [RCV002321582]\|not provided [RCV000756331]\|not specified [RCV000593418]	Chr16:3254735 [GRCh38] Chr16:3304735 [GRCh37] Chr16:16p13.3	benign\|likely benign\|not provided
NM_000243.3(MEFV):c.372C>T (p.Pro124=)	single nucleotide variant	Autoinflammatory syndrome [RCV002262646]\|Familial Mediterranean fever [RCV000083771]\|Inborn genetic diseases [RCV002345406]\|not provided [RCV001705810]\|not specified [RCV000507322]	Chr16:3254696 [GRCh38] Chr16:3304696 [GRCh37] Chr16:16p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.375G>A (p.Glu125=)	single nucleotide variant	Familial Mediterranean fever [RCV000083772]	Chr16:3254693 [GRCh38] Chr16:3304693 [GRCh37] Chr16:16p13.3	likely benign\|not provided
NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3])	microsatellite	Familial Mediterranean fever [RCV000083773]\|not provided [RCV001090252]\|not specified [RCV000598725]	Chr16:3254676..3254677 [GRCh38] Chr16:3304677..3304685 [GRCh37] Chr16:16p13.3	pathogenic\|uncertain significance\|not provided
NM_000243.3(MEFV):c.422G>T (p.Ser141Ile)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126476]\|Familial Mediterranean fever [RCV000083774]\|Familial Mediterranean fever, autosomal dominant [RCV003126475]\|not specified [RCV002509206]	Chr16:3254646 [GRCh38] Chr16:3304646 [GRCh37] Chr16:16p13.3	benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000243.3(MEFV):c.428G>C (p.Arg143Pro)	single nucleotide variant	Familial Mediterranean fever [RCV000083775]	Chr16:3254640 [GRCh38] Chr16:3304640 [GRCh37] Chr16:16p13.3	uncertain significance\|not provided
NM_000243.3(MEFV):c.453G>C (p.Arg151Ser)	single nucleotide variant	Familial Mediterranean fever [RCV000083776]\|not provided [RCV003326347]	Chr16:3254615 [GRCh38] Chr16:3304615 [GRCh37] Chr16:16p13.3	uncertain significance\|not provided
NM_000243.3(MEFV):c.488A>C (p.Glu163Ala)	single nucleotide variant	Familial Mediterranean fever [RCV000083777]	Chr16:3254580 [GRCh38] Chr16:3304580 [GRCh37] Chr16:16p13.3	uncertain significance\|not provided
NM_000243.3(MEFV):c.515A>C (p.Gln172Pro)	single nucleotide variant	Familial Mediterranean fever [RCV000083778]\|not provided [RCV000220620]	Chr16:3254553 [GRCh38] Chr16:3304553 [GRCh37] Chr16:16p13.3	uncertain significance\|not provided
NM_000243.3(MEFV):c.524C>A (p.Pro175His)	single nucleotide variant	Acute febrile neutrophilic dermatosis [RCV003126478]\|Autoinflammatory syndrome [RCV002262647]\|Familial Mediterranean fever [RCV000083779]\|Familial Mediterranean fever [RCV002490736]\|Familial Mediterranean fever, autosomal dominant [RCV003126477]\|not provided [RCV001588911]	Chr16:3254544 [GRCh38] Chr16:3304544 [GRCh37] Chr16:16p13.3	likely benign\|uncertain significance\|not provided

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