MEFV — 1019 ClinVar variants

Pathogenic 5

• p.Ala89fs Single submitter familial Mediterranean fever
• p.Gln504Ter Single submitter familial Mediterranean fever
• p.Gln72Ter Single submitter familial Mediterranean fever
• p.Glu244Lys No assertion criteria sweet syndrome ⚠
• p.Gly111Glu No assertion criteria Behcet disease ⚠

Pathogenic/Likely pathogenic 3

• p.Arg761His Multiple submitters autoinflammatory syndrome ⚠
• p.Ser242Arg Multiple submitters familial Mediterranean fever
• p.Val726Ala Multiple submitters sweet syndrome ⚠

Likely pathogenic 7

• p.Ser503fs Multiple submitters familial Mediterranean fever
• c.(?_911 Single submitter familial Mediterranean fever, autosomal dominant
• p.Arg441Ter Single submitter autoinflammatory syndrome
• p.Asp533fs Single submitter familial Mediterranean fever
• p.Cys191fs Single submitter MEFV-related disorder
• p.Gly197fs Single submitter familial Mediterranean fever
• p.Ser242Gly Single submitter familial Mediterranean fever ⚠

Conflicting classifications of pathogenicity 187

• c.1260+10C>T Single submitter familial Mediterranean fever, autosomal dominant
• c.1261-10G>C Single submitter familial Mediterranean fever
• c.1261-11T>G Single submitter familial Mediterranean fever
• c.1261-28A>G Single submitter sweet syndrome
• c.1356+31G>T Single submitter sweet syndrome
• c.1587+33C>G Single submitter familial Mediterranean fever
• c.1587+7G>A Single submitter familial Mediterranean fever
• c.1610+8G>A Single submitter sweet syndrome
• c.277+6C>T Single submitter sweet syndrome
• c.-15C>G Single submitter familial Mediterranean fever
• c.*190G>C Single submitter familial Mediterranean fever
• c.*74C>T Single submitter familial Mediterranean fever
• c.*9C>T Single submitter autoinflammatory syndrome
• p.125EGN[3] Single submitter familial Mediterranean fever
• p.Ala139Asp Single submitter familial Mediterranean fever ⚠
• p.Ala171Thr Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Ala220fs Single submitter familial Mediterranean fever
• p.Ala255= Single submitter familial Mediterranean fever
• p.Ala268Val Single submitter familial Mediterranean fever ⚠
• p.Ala289Val Single submitter sweet syndrome ⚠
• p.Ala311= Single submitter familial Mediterranean fever, autosomal dominant
• p.Ala311Val Single submitter familial Mediterranean fever ⚠
• p.Ala448= Single submitter familial Mediterranean fever
• p.Ala457Val Single submitter sweet syndrome ⚠
• p.Ala511= Single submitter familial Mediterranean fever
• p.Ala511Val Single submitter sweet syndrome ⚠
• p.Ala66= Single submitter Inborn genetic diseases
• p.Ala744Ser Single submitter autoinflammatory syndrome ⚠
• p.Ala89Thr Single submitter sweet syndrome ⚠
• p.Ala90Pro Single submitter familial Mediterranean fever ⚠
• p.Arg178Trp Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Arg192Gly Single submitter sweet syndrome ⚠
• p.Arg204His Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Arg280= Single submitter autoinflammatory syndrome
• p.Arg280Lys Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Arg314His Single submitter sweet syndrome ⚠
• p.Arg329Cys Single submitter familial Mediterranean fever ⚠
• p.Arg329His Single submitter autoinflammatory syndrome ⚠
• p.Arg348His Single submitter autoinflammatory syndrome ⚠
• p.Arg354Gln Single submitter familial Mediterranean fever ⚠
• p.Arg354Trp Single submitter sweet syndrome ⚠
• p.Arg361Thr Single submitter familial Mediterranean fever ⚠
• p.Arg377= Single submitter familial Mediterranean fever
• p.Arg377His Single submitter sweet syndrome ⚠
• p.Arg39Lys Single submitter familial Mediterranean fever ⚠
• p.Arg408Gln Single submitter autoinflammatory syndrome ⚠
• p.Arg408Leu Single submitter sweet syndrome ⚠
• p.Arg408Trp Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Arg42Trp Single submitter autoinflammatory syndrome ⚠
• p.Arg461Gln Single submitter familial Mediterranean fever ⚠
• p.Arg495= Single submitter familial Mediterranean fever
• p.Arg501= Single submitter autoinflammatory syndrome
• p.Arg501Cys Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Arg501Gly Single submitter familial Mediterranean fever ⚠
• p.Arg761Ser Single submitter familial Mediterranean fever ⚠
• p.Arg80His Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Asn130= Single submitter familial Mediterranean fever
• p.Asn270Asp Single submitter familial Mediterranean fever ⚠
• p.Asn78Ser Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Asn99= Single submitter autoinflammatory syndrome
• p.Asp391= Single submitter Inborn genetic diseases
• p.Asp391Asn Single submitter sweet syndrome ⚠
• p.Asp486= Single submitter Inborn genetic diseases
• p.Asp505Tyr Single submitter familial Mediterranean fever ⚠
• p.Asp510Asn Single submitter familial Mediterranean fever ⚠
• p.Asp723= Single submitter sweet syndrome
• p.Cys144Tyr Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Cys352= Single submitter familial Mediterranean fever
• p.Gln146Ter Single submitter familial Mediterranean fever, autosomal dominant
• p.Gln356Glu Single submitter familial Mediterranean fever ⚠
• p.Gln440Glu Single submitter autoinflammatory syndrome ⚠
• p.Gln489= Single submitter autoinflammatory syndrome
• p.Gln68Ter Single submitter familial Mediterranean fever, autosomal dominant
• p.Gln97Lys Single submitter sweet syndrome ⚠
• p.Gln97Ter Single submitter sweet syndrome
• p.Glu14= Single submitter autoinflammatory syndrome
• p.Glu148Gln Single submitter sweet syndrome ⚠
• p.Glu148Val Single submitter autoinflammatory syndrome ⚠
• p.Glu163Asp Single submitter familial Mediterranean fever ⚠
• p.Glu167Asp Single submitter sweet syndrome ⚠
• p.Glu195= Single submitter autoinflammatory syndrome
• p.Glu22= Single submitter Inborn genetic diseases
• p.Glu230Lys Single submitter autoinflammatory syndrome ⚠
• p.Glu251Lys Single submitter sweet syndrome ⚠
• p.Glu276Asp Single submitter sweet syndrome ⚠
• p.Glu276Ter Single submitter familial Mediterranean fever
• p.Glu319Lys Single submitter sweet syndrome ⚠
• p.Glu438fs Single submitter familial Mediterranean fever
• p.Glu446Ala Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Glu456Asp Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Glu467= Single submitter familial Mediterranean fever
• p.Glu64= Single submitter familial Mediterranean fever
• p.Glu84Gln Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Glu84Lys Single submitter familial Mediterranean fever ⚠
• p.Glu93Gln Single submitter familial Mediterranean fever ⚠
• p.Gly100Arg Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Gly111Arg Single submitter familial Mediterranean fever ⚠
• p.Gly136Glu Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Gly137fs Single submitter familial Mediterranean fever
• p.Gly152= Single submitter familial Mediterranean fever, autosomal dominant
• p.Gly189_Pro190dup Single submitter sweet syndrome
• p.Gly189Val Single submitter sweet syndrome ⚠
• p.Gly196Trp Single submitter autoinflammatory syndrome ⚠
• p.Gly219Asp Single submitter familial Mediterranean fever ⚠
• p.Gly304Arg Single submitter autoinflammatory syndrome ⚠
• p.Gly320Ala Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Gly325Ser Single submitter familial Mediterranean fever ⚠
• p.Gly763Arg Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.His123Gln Single submitter sweet syndrome ⚠
• p.His316= Single submitter Inborn genetic diseases
• p.His478Tyr Single submitter MEFV-related disorder ⚠
• p.Ile259Val Single submitter sweet syndrome ⚠
• p.Ile506= Single submitter autoinflammatory syndrome
• p.Ile513Thr Single submitter sweet syndrome ⚠
• p.Ile755Val Single submitter sweet syndrome ⚠
• p.Ile77= Single submitter familial Mediterranean fever
• p.Ile772Val Single submitter sweet syndrome ⚠
• p.Leu110Pro Single submitter autoinflammatory syndrome ⚠
• p.Leu142= Single submitter familial Mediterranean fever, autosomal dominant
• p.Leu203Pro Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Leu367Val Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Leu384Pro Single submitter familial Mediterranean fever, autosomal dominant
• p.Leu508Val Single submitter familial Mediterranean fever ⚠
• p.Leu559= Single submitter Inborn genetic diseases
• p.Lys114= Single submitter familial Mediterranean fever, autosomal dominant
• p.Lys164Gln Single submitter familial Mediterranean fever ⚠
• p.Lys174Glu Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Lys23Arg Single submitter familial Mediterranean fever ⚠
• p.Lys447Asn Single submitter familial Mediterranean fever ⚠
• p.Phe451Cys Single submitter sweet syndrome ⚠
• p.Phe479Leu Single submitter familial Mediterranean fever ⚠
• p.Pro115Arg Single submitter familial Mediterranean fever ⚠
• p.Pro115Thr Single submitter autoinflammatory syndrome ⚠
• p.Pro147Ala Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Pro175His Single submitter sweet syndrome ⚠
• p.Pro180Leu Single submitter sweet syndrome ⚠
• p.Pro183= Single submitter familial Mediterranean fever
• p.Pro183Leu Single submitter Inborn genetic diseases ⚠
• p.Pro183Thr Single submitter sweet syndrome ⚠
• p.Pro188= Single submitter Inborn genetic diseases
• p.Pro283Arg Single submitter sweet syndrome ⚠
• p.Pro283Leu Single submitter sweet syndrome ⚠
• p.Pro335= Single submitter familial Mediterranean fever, autosomal dominant
• p.Pro342Ser Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Pro364= Single submitter sweet syndrome
• p.Pro364Leu Single submitter familial Mediterranean fever ⚠
• p.Pro369Ser Single submitter autoinflammatory syndrome ⚠
• p.Pro369Thr Single submitter familial Mediterranean fever ⚠
• p.Pro393= Single submitter sweet syndrome
• p.Pro50= Single submitter autoinflammatory syndrome
• p.Pro50Leu Single submitter familial Mediterranean fever ⚠
• p.Pro780Thr Single submitter sweet syndrome ⚠
• p.Ser104Cys Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Ser107Ala Single submitter sweet syndrome ⚠
• p.Ser108Arg Single submitter sweet syndrome ⚠
• p.Ser141Ile Single submitter sweet syndrome ⚠
• p.Ser154Pro Single submitter sweet syndrome ⚠
• p.Ser159Gly Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Ser166Leu Single submitter familial Mediterranean fever ⚠
• p.Ser179Asn Single submitter sweet syndrome ⚠
• p.Ser208Thr Single submitter familial Mediterranean fever ⚠
• p.Ser242= Single submitter autoinflammatory syndrome
• p.Ser248= Single submitter familial Mediterranean fever
• p.Ser288Tyr Single submitter sweet syndrome ⚠
• p.Ser363= Single submitter sweet syndrome
• p.Ser442Thr Single submitter sweet syndrome ⚠
• p.Ser503Cys Single submitter autoinflammatory syndrome ⚠
• p.Ser749Cys Single submitter sweet syndrome ⚠
• p.Ser757= Single submitter familial Mediterranean fever
• p.Thr177Ile Single submitter sweet syndrome ⚠
• p.Thr262= Single submitter familial Mediterranean fever, autosomal dominant
• p.Thr267Ile Single submitter familial Mediterranean fever ⚠
• p.Thr309Met Single submitter autoinflammatory syndrome ⚠
• p.Thr548Asn Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Thr771fs Single submitter familial Mediterranean fever, autosomal dominant
• p.Tyr135Ter Single submitter familial Mediterranean fever
• p.Tyr65= Single submitter autoinflammatory syndrome
• p.Val33= Single submitter autoinflammatory syndrome
• p.Val33Leu Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Val415= Single submitter autoinflammatory syndrome
• p.Val469Ala Single submitter familial Mediterranean fever ⚠
• p.Val469Leu Single submitter sweet syndrome ⚠
• p.Val487Leu Single submitter autoinflammatory syndrome ⚠
• p.Val487Met Single submitter sweet syndrome ⚠
• p.Val502Ile Single submitter sweet syndrome ⚠
• p.Val541Ala Single submitter sweet syndrome ⚠
• p.Val67Met Single submitter familial Mediterranean fever ⚠

Benign 21

• c.1260+92G>A Multiple submitters familial Mediterranean fever
• c.1356+267C>T Multiple submitters
• c.1356+44A>G Multiple submitters familial Mediterranean fever
• c.1588-69G>A Multiple submitters familial Mediterranean fever, autosomal dominant
• c.1610+186A>G Multiple submitters
• c.1610+96C>T Multiple submitters familial Mediterranean fever
• c.1611-90C>T Multiple submitters familial Mediterranean fever, autosomal dominant
• c.-614C>G Multiple submitters familial Mediterranean fever, autosomal dominant
• c.*1056G>T Multiple submitters familial Mediterranean fever
• c.*474C>G Multiple submitters familial Mediterranean fever
• c.*475A>G Multiple submitters familial Mediterranean fever
• c.*743T>C Multiple submitters familial Mediterranean fever
• p.Leu13Val Multiple submitters familial Mediterranean fever
• c.1357-306del Single submitter
• c.1611-343T>G Single submitter
• c.1611-9dup Single submitter familial Mediterranean fever
• c.911-18dup Single submitter familial Mediterranean fever
• c.911-2117T>C Single submitter
• c.911-23G>A Single submitter
• p.Ala165= Single submitter
• p.Gly137= Single submitter

Benign/Likely benign 18

• c.1356+12G>C Multiple submitters familial Mediterranean fever
• c.1587+18C>T Multiple submitters familial Mediterranean fever
• c.1610+10G>T Multiple submitters familial Mediterranean fever
• c.911-12G>A Multiple submitters familial Mediterranean fever
• c.-330G>A Multiple submitters sweet syndrome
• c.*133G>A Multiple submitters sweet syndrome
• c.*245G>A Multiple submitters sweet syndrome
• c.*267G>A Multiple submitters familial Mediterranean fever, autosomal dominant
• p.Arg202Gln Multiple submitters autoinflammatory syndrome
• p.Arg314= Multiple submitters autoinflammatory syndrome
• p.Asp102= Multiple submitters autoinflammatory syndrome
• p.Asp510= Multiple submitters autoinflammatory syndrome
• p.Gln476= Multiple submitters Inborn genetic diseases
• p.Glu474= Multiple submitters autoinflammatory syndrome
• p.Gly111= Multiple submitters sweet syndrome
• p.Gly138= Multiple submitters autoinflammatory syndrome
• p.Tyr60= Multiple submitters Inborn genetic diseases
• p.Val722= Multiple submitters familial Mediterranean fever

Likely benign 350

Showing the top 300 by review status; the full set is in the sitemap.

• c.1260+17T>C Multiple submitters familial Mediterranean fever
• c.1260+18G>A Multiple submitters familial Mediterranean fever
• c.1261-13G>A Multiple submitters familial Mediterranean fever
• c.1356+11A>C Multiple submitters familial Mediterranean fever
• c.1357-260A>T Multiple submitters
• c.1357-9G>T Multiple submitters familial Mediterranean fever
• c.1610+11G>A Multiple submitters familial Mediterranean fever
• c.1611-4C>G Multiple submitters familial Mediterranean fever
• c.277+18T>G Multiple submitters familial Mediterranean fever
• c.910+20A>G Multiple submitters familial Mediterranean fever
• c.910+29C>G Multiple submitters
• c.911-78T>C Multiple submitters familial Mediterranean fever
• p.Ala106= Multiple submitters familial Mediterranean fever
• p.Ala171= Multiple submitters familial Mediterranean fever
• p.Ala207= Multiple submitters familial Mediterranean fever
• p.Ala457= Multiple submitters Inborn genetic diseases
• p.Ala497= Multiple submitters Inborn genetic diseases
• p.Arg204= Multiple submitters familial Mediterranean fever
• p.Arg39= Multiple submitters familial Mediterranean fever
• p.Asp324= Multiple submitters familial Mediterranean fever
• p.Cys521= Multiple submitters familial Mediterranean fever
• p.Gln463= Multiple submitters familial Mediterranean fever
• p.Gln753= Multiple submitters Inborn genetic diseases
• p.Glu36= Multiple submitters familial Mediterranean fever
• p.Glu485= Multiple submitters familial Mediterranean fever
• p.Gly126= Multiple submitters familial Mediterranean fever
• p.Gly215= Multiple submitters familial Mediterranean fever
• p.Gly764= Multiple submitters familial Mediterranean fever
• p.His390= Multiple submitters familial Mediterranean fever
• p.Ile40= Multiple submitters familial Mediterranean fever
• p.Ile755= Multiple submitters familial Mediterranean fever
• p.Leu213= Multiple submitters familial Mediterranean fever
• p.Leu509= Multiple submitters familial Mediterranean fever
• p.Phe756= Multiple submitters familial Mediterranean fever
• p.Pro550= Multiple submitters familial Mediterranean fever
• p.Thr249= Multiple submitters familial Mediterranean fever
• p.Thr735= Multiple submitters familial Mediterranean fever
• c.1260+12C>T Single submitter familial Mediterranean fever
• c.1260+14G>T Single submitter familial Mediterranean fever
• c.1260+15C>A Single submitter familial Mediterranean fever
• c.1260+18G>C Single submitter familial Mediterranean fever
• c.1260+7A>C Single submitter familial Mediterranean fever
• c.1260+7A>G Single submitter familial Mediterranean fever
• c.1260+8C>T Single submitter familial Mediterranean fever
• c.1260+9T>A Single submitter familial Mediterranean fever
• c.1261-10G>A Single submitter familial Mediterranean fever
• c.1261-14T>C Single submitter familial Mediterranean fever
• c.1261-15G>C Single submitter
• c.1261-16A>C Single submitter familial Mediterranean fever
• c.1261-18C>T Single submitter familial Mediterranean fever
• c.1261-4C>A Single submitter familial Mediterranean fever
• c.1356+10del Single submitter familial Mediterranean fever
• c.1356+10G>C Single submitter familial Mediterranean fever
• c.1356+10G>T Single submitter familial Mediterranean fever
• c.1356+13del Single submitter familial Mediterranean fever
• c.1356+14T>A Single submitter familial Mediterranean fever
• c.1356+14T>C Single submitter familial Mediterranean fever
• c.1356+270C>T Single submitter
• c.1356+8C>T Single submitter familial Mediterranean fever
• c.1357-13C>G Single submitter familial Mediterranean fever
• c.1357-13C>T Single submitter familial Mediterranean fever
• c.1357-16G>A Single submitter familial Mediterranean fever
• c.1357-18C>G Single submitter familial Mediterranean fever
• c.1357-18C>T Single submitter familial Mediterranean fever
• c.1357-208A>C Single submitter
• c.1357-27_1357-18del Single submitter familial Mediterranean fever
• c.1357-4C>T Single submitter familial Mediterranean fever
• c.1357-8C>T Single submitter familial Mediterranean fever
• c.1587+12T>C Single submitter familial Mediterranean fever
• c.1587+147C>T Single submitter
• c.1587+16C>A Single submitter familial Mediterranean fever
• c.1587+19G>A Single submitter familial Mediterranean fever
• c.1587+214T>C Single submitter
• c.1588-12T>A Single submitter
• c.1588-17C>G Single submitter familial Mediterranean fever
• c.1588-19T>G Single submitter familial Mediterranean fever
• c.1610+10G>A Single submitter familial Mediterranean fever
• c.1610+16G>C Single submitter familial Mediterranean fever
• c.1610+17T>C Single submitter familial Mediterranean fever
• c.1610+20T>C Single submitter familial Mediterranean fever
• c.1610+21G>A Single submitter
• c.1610+257G>C Single submitter
• c.1610+295G>A Single submitter
• c.1610+7C>A Single submitter familial Mediterranean fever
• c.1610+7C>T Single submitter familial Mediterranean fever
• c.1611-134G>C Single submitter
• c.1611-170C>G Single submitter
• c.1611-19A>G Single submitter familial Mediterranean fever
• c.1611-33G>A Single submitter
• c.1611-344dup Single submitter
• c.277+11C>G Single submitter familial Mediterranean fever
• c.277+13A>G Single submitter
• c.277+16C>T Single submitter familial Mediterranean fever
• c.277+17C>T Single submitter familial Mediterranean fever
• c.277+20C>T Single submitter familial Mediterranean fever
• c.277+7_277+10dup Single submitter familial Mediterranean fever
• c.277+7G>A Single submitter familial Mediterranean fever
• c.277+7G>C Single submitter
• c.277+9G>A Single submitter familial Mediterranean fever
• c.278-10G>T Single submitter familial Mediterranean fever
• c.278-11_278-9del Single submitter familial Mediterranean fever
• c.278-12T>C Single submitter familial Mediterranean fever
• c.278-15T>C Single submitter familial Mediterranean fever
• c.278-18A>T Single submitter
• c.278-20G>T Single submitter familial Mediterranean fever
• c.278-59G>A Single submitter
• c.278-5T>A Single submitter familial Mediterranean fever
• c.278-7C>G Single submitter familial Mediterranean fever
• c.278-8C>T Single submitter familial Mediterranean fever
• c.910+13C>A Single submitter familial Mediterranean fever
• c.910+13C>G Single submitter familial Mediterranean fever
• c.910+16T>C Single submitter familial Mediterranean fever
• c.910+17C>T Single submitter familial Mediterranean fever
• c.910+18C>T Single submitter familial Mediterranean fever
• c.910+6T>G Single submitter
• c.911-10A>G Single submitter familial Mediterranean fever
• c.911-11C>T Single submitter familial Mediterranean fever
• c.911-145G>T Single submitter
• c.911-14C>T Single submitter familial Mediterranean fever
• c.911-15A>G Single submitter familial Mediterranean fever
• c.911-4C>T Single submitter familial Mediterranean fever
• c.911-5C>A Single submitter familial Mediterranean fever
• c.911-5C>T Single submitter familial Mediterranean fever
• c.911-9T>C Single submitter familial Mediterranean fever
• c.-13C>G Single submitter
• p.Ala105= Single submitter familial Mediterranean fever
• p.Ala140= Single submitter familial Mediterranean fever
• p.Ala193= Single submitter familial Mediterranean fever
• p.Ala199= Single submitter familial Mediterranean fever
• p.Ala210= Single submitter familial Mediterranean fever
• p.Ala217= Single submitter familial Mediterranean fever
• p.Ala253= Single submitter familial Mediterranean fever
• p.Ala268= Single submitter familial Mediterranean fever
• p.Ala269= Single submitter familial Mediterranean fever
• p.Ala289= Single submitter familial Mediterranean fever
• p.Ala310= Single submitter familial Mediterranean fever
• p.Ala317= Single submitter familial Mediterranean fever
• p.Ala344= Single submitter familial Mediterranean fever
• p.Ala416= Single submitter familial Mediterranean fever
• p.Ala482= Single submitter familial Mediterranean fever
• p.Ala538= Single submitter familial Mediterranean fever
• p.Ala54= Single submitter familial Mediterranean fever
• p.Ala736= Single submitter familial Mediterranean fever
• p.Ala76= Single submitter familial Mediterranean fever
• p.Ala83= Single submitter familial Mediterranean fever
• p.Arg116= Single submitter familial Mediterranean fever
• p.Arg143= Single submitter familial Mediterranean fever
• p.Arg151= Single submitter familial Mediterranean fever
• p.Arg202= Single submitter familial Mediterranean fever
• p.Arg212= Single submitter familial Mediterranean fever
• p.Arg239= Single submitter familial Mediterranean fever
• p.Arg278= Single submitter familial Mediterranean fever
• p.Arg354= Single submitter familial Mediterranean fever
• p.Arg361= Single submitter familial Mediterranean fever
• p.Arg410= Single submitter familial Mediterranean fever
• p.Arg42= Single submitter familial Mediterranean fever
• p.Arg461= Single submitter familial Mediterranean fever
• p.Arg49= Single submitter familial Mediterranean fever
• p.Arg501His Single submitter familial Mediterranean fever
• p.Arg761= Single submitter familial Mediterranean fever
• p.Arg80= Single submitter familial Mediterranean fever
• p.Arg88= Single submitter familial Mediterranean fever
• p.Asn127= Single submitter familial Mediterranean fever
• p.Asn206= Single submitter familial Mediterranean fever
• p.Asp122= Single submitter familial Mediterranean fever
• p.Asp170= Single submitter familial Mediterranean fever
• p.Asp330= Single submitter familial Mediterranean fever
• p.Asp530= Single submitter familial Mediterranean fever
• p.Asp533= Single submitter familial Mediterranean fever
• p.Cys144= Single submitter familial Mediterranean fever
• p.Cys327= Single submitter familial Mediterranean fever
• p.Gln146= Single submitter familial Mediterranean fever
• p.Gln223= Single submitter familial Mediterranean fever
• p.Gln318= Single submitter familial Mediterranean fever
• p.Gln374= Single submitter familial Mediterranean fever
• p.Gln381= Single submitter familial Mediterranean fever
• p.Gln551Pro Single submitter
• p.Gln558= Single submitter familial Mediterranean fever
• p.Gln68= Single submitter familial Mediterranean fever
• p.Glu112= Single submitter familial Mediterranean fever
• p.Glu125= Single submitter familial Mediterranean fever
• p.Glu128= Single submitter familial Mediterranean fever
• p.Glu148= Single submitter
• p.Glu167= Single submitter familial Mediterranean fever
• p.Glu230= Single submitter familial Mediterranean fever
• p.Glu264= Single submitter familial Mediterranean fever
• p.Glu388= Single submitter familial Mediterranean fever
• p.Glu413= Single submitter familial Mediterranean fever
• p.Glu438= Single submitter familial Mediterranean fever
• p.Glu445= Single submitter familial Mediterranean fever
• p.Glu477= Single submitter familial Mediterranean fever
• p.Glu517= Single submitter familial Mediterranean fever
• p.Glu85= Single submitter familial Mediterranean fever
• p.Glu93= Single submitter familial Mediterranean fever
• p.Gly100= Single submitter familial Mediterranean fever
• p.Gly129= Single submitter familial Mediterranean fever
• p.Gly150= Single submitter familial Mediterranean fever
• p.Gly173= Single submitter familial Mediterranean fever
• p.Gly184= Single submitter familial Mediterranean fever
• p.Gly185= Single submitter familial Mediterranean fever
• p.Gly189= Single submitter familial Mediterranean fever
• p.Gly196= Single submitter familial Mediterranean fever
• p.Gly197Ser Single submitter Inborn genetic diseases
• p.Gly211= Single submitter familial Mediterranean fever
• p.Gly219= Single submitter familial Mediterranean fever
• p.Gly286= Single submitter familial Mediterranean fever
• p.Gly294= Single submitter familial Mediterranean fever
• p.Gly296= Single submitter
• p.Gly346= Single submitter familial Mediterranean fever
• p.Gly406= Single submitter
• p.Gly62= Single submitter familial Mediterranean fever
• p.Gly750= Single submitter familial Mediterranean fever
• p.Gly779= Single submitter familial Mediterranean fever
• p.His123= Single submitter
• p.His359= Single submitter familial Mediterranean fever
• p.His407= Single submitter familial Mediterranean fever
• p.His478Arg Single submitter
• p.His87= Single submitter familial Mediterranean fever
• p.Ile394= Single submitter familial Mediterranean fever
• p.Ile531= Single submitter familial Mediterranean fever
• p.Ile557= Single submitter familial Mediterranean fever
• p.Ile740= Single submitter familial Mediterranean fever
• p.Ile772= Single submitter familial Mediterranean fever
• p.Leu10= Single submitter familial Mediterranean fever
• p.Leu110= Single submitter familial Mediterranean fever
• p.Leu158= Single submitter familial Mediterranean fever
• p.Leu16= Single submitter familial Mediterranean fever
• p.Leu182= Single submitter familial Mediterranean fever
• p.Leu194= Single submitter familial Mediterranean fever
• p.Leu216= Single submitter familial Mediterranean fever
• p.Leu233= Single submitter familial Mediterranean fever
• p.Leu263= Single submitter familial Mediterranean fever
• p.Leu271= Single submitter familial Mediterranean fever
• p.Leu291= Single submitter familial Mediterranean fever
• p.Leu367= Single submitter familial Mediterranean fever
• p.Leu385= Single submitter familial Mediterranean fever
• p.Leu396= Single submitter familial Mediterranean fever
• p.Leu417= Single submitter familial Mediterranean fever
• p.Leu427= Single submitter familial Mediterranean fever
• p.Leu430= Single submitter familial Mediterranean fever
• p.Leu433= Single submitter familial Mediterranean fever
• p.Leu466= Single submitter familial Mediterranean fever
• p.Leu473= Single submitter familial Mediterranean fever
• p.Leu484= Single submitter familial Mediterranean fever
• p.Leu508= Single submitter familial Mediterranean fever
• p.Leu512= Single submitter
• p.Leu56= Single submitter Inborn genetic diseases
• p.Leu71= Single submitter familial Mediterranean fever
• p.Leu74= Single submitter familial Mediterranean fever
• p.Leu770= Single submitter familial Mediterranean fever
• p.Leu81= Single submitter familial Mediterranean fever
• p.Leu9= Single submitter familial Mediterranean fever
• p.Lys119= Single submitter familial Mediterranean fever
• p.Lys35= Single submitter
• p.Lys362= Single submitter familial Mediterranean fever
• p.Lys380= Single submitter familial Mediterranean fever
• p.Lys422= Single submitter familial Mediterranean fever
• p.Lys425= Single submitter familial Mediterranean fever
• p.Lys465= Single submitter familial Mediterranean fever
• p.Lys546= Single submitter familial Mediterranean fever
• p.Phe21= Single submitter familial Mediterranean fever
• p.Phe229= Single submitter familial Mediterranean fever
• p.Phe451= Single submitter familial Mediterranean fever
• p.Phe472= Single submitter familial Mediterranean fever
• p.Phe743= Single submitter familial Mediterranean fever
• p.Pro121= Single submitter familial Mediterranean fever
• p.Pro124= Single submitter familial Mediterranean fever
• p.Pro134= Single submitter familial Mediterranean fever
• p.Pro175= Single submitter familial Mediterranean fever
• p.Pro18= Single submitter familial Mediterranean fever
• p.Pro180= Single submitter familial Mediterranean fever
• p.Pro190= Single submitter familial Mediterranean fever
• p.Pro221= Single submitter Inborn genetic diseases
• p.Pro234= Single submitter familial Mediterranean fever
• p.Pro254= Single submitter familial Mediterranean fever
• p.Pro277= Single submitter familial Mediterranean fever
• p.Pro283= Single submitter familial Mediterranean fever
• p.Pro298= Single submitter familial Mediterranean fever
• p.Pro313= Single submitter familial Mediterranean fever
• p.Pro322= Single submitter familial Mediterranean fever
• p.Pro342= Single submitter familial Mediterranean fever
• p.Pro350= Single submitter familial Mediterranean fever
• p.Pro353= Single submitter familial Mediterranean fever
• p.Pro369= Single submitter familial Mediterranean fever
• p.Pro371Ser Single submitter Inborn genetic diseases
• p.Pro373= Single submitter familial Mediterranean fever
• p.Pro751= Single submitter
• p.Ser107= Single submitter familial Mediterranean fever
• p.Ser108= Single submitter familial Mediterranean fever
• p.Ser141= Single submitter familial Mediterranean fever
• p.Ser154= Single submitter familial Mediterranean fever
• p.Ser166= Single submitter familial Mediterranean fever
• p.Ser187= Single submitter familial Mediterranean fever
• p.Ser235= Single submitter familial Mediterranean fever
• p.Ser273= Single submitter Inborn genetic diseases
• p.Ser301= Single submitter familial Mediterranean fever
• p.Ser32= Single submitter familial Mediterranean fever
• p.Ser339= Single submitter familial Mediterranean fever
• p.Ser347= Single submitter familial Mediterranean fever
• p.Ser358= Single submitter familial Mediterranean fever

Uncertain significance 428

Showing the top 300 by review status; the full set is in the sitemap.

• c.*845C>T Multiple submitters familial Mediterranean fever
• p.Ala193Thr Multiple submitters familial Mediterranean fever ⚠
• p.Ala2Gly Multiple submitters familial Mediterranean fever ⚠
• p.Ala416Thr Multiple submitters sweet syndrome ⚠
• p.Ala744Thr Multiple submitters autoinflammatory syndrome ⚠
• p.Ala768Gly Multiple submitters familial Mediterranean fever ⚠
• p.Arg151Ser Multiple submitters sweet syndrome ⚠
• p.Arg155Thr Multiple submitters familial Mediterranean fever ⚠
• p.Arg278Gln Multiple submitters sweet syndrome ⚠
• p.Arg410His Multiple submitters familial Mediterranean fever ⚠
• p.Arg441Gln Multiple submitters familial Mediterranean fever, autosomal dominant ⚠
• p.Arg461Trp Multiple submitters familial Mediterranean fever ⚠
• p.Arg75Gln Multiple submitters familial Mediterranean fever ⚠
• p.Arg80Cys Multiple submitters autoinflammatory syndrome ⚠
• p.Asn256fs Multiple submitters familial Mediterranean fever
• p.Asn270Ser Multiple submitters sweet syndrome ⚠
• p.Asp290Asn Multiple submitters familial Mediterranean fever ⚠
• p.Asp321Glu Multiple submitters familial Mediterranean fever ⚠
• p.Cys332Tyr Multiple submitters Inborn genetic diseases ⚠
• p.Cys746Arg Multiple submitters familial Mediterranean fever ⚠
• p.Gln172Pro Multiple submitters familial Mediterranean fever ⚠
• p.Gln343His Multiple submitters sweet syndrome ⚠
• p.Gln489Ter Multiple submitters familial Mediterranean fever
• p.Gln778Ter Multiple submitters familial Mediterranean fever
• p.Glu112Lys Multiple submitters familial Mediterranean fever ⚠
• p.Glu128Lys Multiple submitters familial Mediterranean fever, autosomal dominant ⚠
• p.Glu148fs Multiple submitters familial Mediterranean fever, autosomal dominant
• p.Glu225Asp Multiple submitters familial Mediterranean fever ⚠
• p.Glu22Lys Multiple submitters familial Mediterranean fever ⚠
• p.Glu230Gln Multiple submitters familial Mediterranean fever ⚠
• p.Glu336Lys Multiple submitters ⚠
• p.Glu520Val Multiple submitters familial Mediterranean fever ⚠
• p.Glu84Asp Multiple submitters familial Mediterranean fever ⚠
• p.Gly126Glu Multiple submitters familial Mediterranean fever ⚠
• p.Gly137Ser Multiple submitters Inborn genetic diseases ⚠
• p.Gly185Arg Multiple submitters familial Mediterranean fever ⚠
• p.Gly196Arg Multiple submitters autoinflammatory syndrome ⚠
• p.Gly197Arg Multiple submitters familial Mediterranean fever ⚠
• p.Gly197Asp Multiple submitters ⚠
• p.Gly285Ala Multiple submitters familial Mediterranean fever ⚠
• p.Gly286Ala Multiple submitters familial Mediterranean fever ⚠
• p.Gly325Arg Multiple submitters familial Mediterranean fever ⚠
• p.Gly532Glu Multiple submitters sweet syndrome ⚠
• p.Gly777Arg Multiple submitters familial Mediterranean fever ⚠
• p.Gly777fs Multiple submitters familial Mediterranean fever
• p.His404Arg Multiple submitters familial Mediterranean fever ⚠
• p.Lys266Glu Multiple submitters familial Mediterranean fever, autosomal dominant ⚠
• p.Lys422Arg Multiple submitters familial Mediterranean fever ⚠
• p.Phe743Leu Multiple submitters familial Mediterranean fever, autosomal dominant ⚠
• p.Pro115Ser Multiple submitters familial Mediterranean fever, autosomal dominant ⚠
• p.Pro180Gln Multiple submitters familial Mediterranean fever ⚠
• p.Pro228Leu Multiple submitters familial Mediterranean fever ⚠
• p.Pro228Ser Multiple submitters sweet syndrome ⚠
• p.Pro254Ser Multiple submitters familial Mediterranean fever, autosomal dominant ⚠
• p.Pro306Ala Multiple submitters familial Mediterranean fever ⚠
• p.Pro335His Multiple submitters familial Mediterranean fever, autosomal dominant ⚠
• p.Ser108Thr Multiple submitters familial Mediterranean fever, autosomal dominant ⚠
• p.Ser109Phe Multiple submitters sweet syndrome ⚠
• p.Ser145Arg Multiple submitters familial Mediterranean fever ⚠
• p.Ser145Thr Multiple submitters familial Mediterranean fever ⚠
• p.Ser179Ile Multiple submitters familial Mediterranean fever ⚠
• p.Ser235Leu Multiple submitters familial Mediterranean fever ⚠
• p.Ser273Leu Multiple submitters familial Mediterranean fever ⚠
• p.Ser331Phe Multiple submitters Inborn genetic diseases ⚠
• p.Ser339Phe Multiple submitters autoinflammatory syndrome ⚠
• p.Ser368Arg Multiple submitters familial Mediterranean fever, autosomal dominant ⚠
• p.Ser43Asn Multiple submitters MEFV-related disorder ⚠
• p.Ser749Tyr Multiple submitters familial Mediterranean fever ⚠
• p.Ser95Pro Multiple submitters familial Mediterranean fever ⚠
• p.Thr249Ala Multiple submitters familial Mediterranean fever ⚠
• p.Thr55Ala Multiple submitters familial Mediterranean fever ⚠
• p.Trp547Arg Multiple submitters familial Mediterranean fever, autosomal dominant ⚠
• p.Tyr135Asn Multiple submitters familial Mediterranean fever ⚠
• p.Tyr19Cys Multiple submitters familial Mediterranean fever ⚠
• p.Tyr443Asn Multiple submitters familial Mediterranean fever ⚠
• p.Val775Met Multiple submitters familial Mediterranean fever, autosomal dominant ⚠
• c.1261-18C>G Single submitter familial Mediterranean fever
• c.1587+5G>A Single submitter familial Mediterranean fever
• c.1587+5G>T Single submitter familial Mediterranean fever
• c.1588-2A>G Single submitter familial Mediterranean fever, autosomal dominant
• c.1588-3T>A Single submitter
• c.1610+5_1610+6insACCT Single submitter familial Mediterranean fever
• c.1611-1G>C Single submitter familial Mediterranean fever
• c.277+16C>A Single submitter
• c.277+1G>A Single submitter familial Mediterranean fever
• c.277+1G>T Single submitter familial Mediterranean fever
• c.277+4A>C Single submitter familial Mediterranean fever
• c.910+4A>G Single submitter
• c.911-8G>A Single submitter autoinflammatory syndrome
• c.911-971G>A Single submitter
• c.-12C>G Single submitter familial Mediterranean fever
• c.*1002G>C Single submitter familial Mediterranean fever
• c.*1008A>G Single submitter familial Mediterranean fever
• c.*1029G>C Single submitter familial Mediterranean fever
• c.*1080A>G Single submitter familial Mediterranean fever
• c.*1096A>T Single submitter familial Mediterranean fever
• c.*169C>T Single submitter familial Mediterranean fever
• c.*19C>T Single submitter familial Mediterranean fever
• c.*280G>C Single submitter familial Mediterranean fever
• c.*292C>G Single submitter familial Mediterranean fever
• c.*394C>T Single submitter familial Mediterranean fever
• c.*403A>C Single submitter familial Mediterranean fever
• c.*543C>T Single submitter familial Mediterranean fever
• c.*579C>A Single submitter familial Mediterranean fever
• c.*639G>A Single submitter familial Mediterranean fever
• c.*679C>G Single submitter familial Mediterranean fever
• c.*690G>T Single submitter familial Mediterranean fever
• c.*695C>G Single submitter familial Mediterranean fever
• c.*701G>A Single submitter familial Mediterranean fever
• c.*721T>A Single submitter familial Mediterranean fever
• c.*724G>A Single submitter familial Mediterranean fever
• c.*761C>G Single submitter familial Mediterranean fever
• c.*797T>C Single submitter familial Mediterranean fever
• c.*818A>C Single submitter familial Mediterranean fever
• c.*862A>C Single submitter familial Mediterranean fever
• c.*959T>C Single submitter familial Mediterranean fever
• c.*981A>G Single submitter familial Mediterranean fever
• c.*9C>G Single submitter autoinflammatory syndrome
• p.Ala139Ser Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Ala193Val Single submitter ⚠
• p.Ala199Gly Single submitter Inborn genetic diseases ⚠
• p.Ala207Ser Single submitter autoinflammatory syndrome ⚠
• p.Ala210Gly Single submitter familial Mediterranean fever ⚠
• p.Ala217Val Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Ala220Pro Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Ala220Val Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Ala253Glu Single submitter ⚠
• p.Ala255Val Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Ala268Asp Single submitter familial Mediterranean fever ⚠
• p.Ala279Thr Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Ala279Val Single submitter familial Mediterranean fever ⚠
• p.Ala287Val Single submitter ⚠
• p.Ala289Glu Single submitter familial Mediterranean fever ⚠
• p.Ala289Thr Single submitter ⚠
• p.Ala310Thr Single submitter ⚠
• p.Ala311Thr Single submitter familial Mediterranean fever ⚠
• p.Ala317Thr Single submitter familial Mediterranean fever ⚠
• p.Ala344Ser Single submitter familial Mediterranean fever ⚠
• p.Ala416Ser Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Ala507Ser Single submitter ⚠
• p.Ala507Thr Single submitter ⚠
• p.Ala511Thr Single submitter ⚠
• p.Ala518Thr Single submitter familial Mediterranean fever ⚠
• p.Ala66Thr Single submitter familial Mediterranean fever ⚠
• p.Ala744Pro Single submitter familial Mediterranean fever ⚠
• p.Ala83Val Single submitter ⚠
• p.Ala90fs Single submitter familial Mediterranean fever
• p.Arg133= Single submitter autoinflammatory syndrome
• p.Arg133Leu Single submitter familial Mediterranean fever ⚠
• p.Arg143Pro Single submitter familial Mediterranean fever ⚠
• p.Arg151fs Single submitter familial Mediterranean fever
• p.Arg151Gly Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Arg151Thr Single submitter ⚠
• p.Arg151Trp Single submitter familial Mediterranean fever ⚠
• p.Arg161Gly Single submitter familial Mediterranean fever ⚠
• p.Arg162Lys Single submitter Inborn genetic diseases ⚠
• p.Arg192Thr Single submitter familial Mediterranean fever ⚠
• p.Arg204Leu Single submitter familial Mediterranean fever
• p.Arg227Gly Single submitter ⚠
• p.Arg239Ter Single submitter
• p.Arg241Gly Single submitter familial Mediterranean fever ⚠
• p.Arg278Pro Single submitter autoinflammatory syndrome ⚠
• p.Arg305Ser Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Arg377Cys Single submitter familial Mediterranean fever ⚠
• p.Arg39Gly Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Arg461Pro Single submitter familial Mediterranean fever ⚠
• p.Arg737Lys Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Arg761Cys Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Arg88Ser Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Asn127Ser Single submitter autoinflammatory syndrome ⚠
• p.Asn127Thr Single submitter Inborn genetic diseases ⚠
• p.Asn130Lys Single submitter familial Mediterranean fever ⚠
• p.Asn256Asp Single submitter familial Mediterranean fever ⚠
• p.Asn733Ser Single submitter familial Mediterranean fever ⚠
• p.Asn766His Single submitter familial Mediterranean fever ⚠
• p.Asn766Lys Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Asn78Ile Single submitter ⚠
• p.Asp103His Single submitter ⚠
• p.Asp122Ala Single submitter familial Mediterranean fever ⚠
• p.Asp122Gly Single submitter ⚠
• p.Asp170Asn Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Asp308Asn Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Asp308Tyr Single submitter familial Mediterranean fever ⚠
• p.Asp324Glu Single submitter familial Mediterranean fever ⚠
• p.Asp391Glu Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Asp510Glu Single submitter familial Mediterranean fever ⚠
• p.Asp530Asn Single submitter ⚠
• p.Asp530Val Single submitter Inborn genetic diseases
• p.Asp762Asn Single submitter ⚠
• p.Cys315Arg Single submitter familial Mediterranean fever ⚠
• p.Cys352Ter Single submitter
• p.Cys521Trp Single submitter familial Mediterranean fever ⚠
• p.Cys746Gly Single submitter familial Mediterranean fever ⚠
• p.Cys773Tyr Single submitter autoinflammatory syndrome ⚠
• p.Gln172His Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Gln198fs Single submitter
• p.Gln214Pro Single submitter ⚠
• p.Gln223Ter Single submitter
• p.Gln34Pro Single submitter familial Mediterranean fever ⚠
• p.Gln356Arg Single submitter ⚠
• p.Gln370fs Single submitter familial Mediterranean fever
• p.Gln374His Single submitter ⚠
• p.Gln381Glu Single submitter familial Mediterranean fever ⚠
• p.Gln381His Single submitter familial Mediterranean fever ⚠
• p.Gln381Ter Single submitter familial Mediterranean fever
• p.Gln383Ter Single submitter familial Mediterranean fever
• p.Gln424Pro Single submitter Inborn genetic diseases ⚠
• p.Gln440Lys Single submitter familial Mediterranean fever ⚠
• p.Gln44Lys Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Gln44Ter Single submitter familial Mediterranean fever
• p.Gln475His Single submitter ⚠
• p.Gln476Glu Single submitter Inborn genetic diseases ⚠
• p.Gln476His Single submitter ⚠
• p.Gln551Arg Single submitter familial Mediterranean fever ⚠
• p.Gln551Glu Single submitter familial Mediterranean fever ⚠
• p.Gln555Pro Single submitter familial Mediterranean fever ⚠
• p.Gln778Arg Single submitter familial Mediterranean fever ⚠
• p.Gln778fs Single submitter familial Mediterranean fever
• p.Glu128Gln Single submitter ⚠
• p.Glu128Val Single submitter familial Mediterranean fever ⚠
• p.Glu148Asp Single submitter ⚠
• p.Glu148Lys Single submitter familial Mediterranean fever ⚠
• p.Glu163Ala Single submitter familial Mediterranean fever ⚠
• p.Glu163Gln Single submitter familial Mediterranean fever ⚠
• p.Glu195Asp Single submitter familial Mediterranean fever ⚠
• p.Glu200fs Single submitter familial Mediterranean fever
• p.Glu225Gly Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Glu22fs Single submitter familial Mediterranean fever
• p.Glu230Ter Single submitter familial Mediterranean fever
• p.Glu251Gln Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Glu264Lys Single submitter familial Mediterranean fever ⚠
• p.Glu299Gly Single submitter familial Mediterranean fever ⚠
• p.Glu392Lys Single submitter ⚠
• p.Glu403Asp Single submitter Inborn genetic diseases ⚠
• p.Glu403Lys Single submitter familial Mediterranean fever ⚠
• p.Glu403Val Single submitter ⚠
• p.Glu418Gln Single submitter ⚠
• p.Glu428Asp Single submitter familial Mediterranean fever ⚠
• p.Glu439Gly Single submitter familial Mediterranean fever ⚠
• p.Glu439Lys Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Glu474Lys Single submitter
• p.Glu477Asp Single submitter familial Mediterranean fever ⚠
• p.Glu477Lys Single submitter autoinflammatory syndrome ⚠
• p.Glu526Gly Single submitter familial Mediterranean fever ⚠
• p.Glu552Val Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Glu85Lys Single submitter Inborn genetic diseases ⚠
• p.Glu85Met Single submitter
• p.Glu85Val Single submitter Inborn genetic diseases
• p.Glu98Lys Single submitter Inborn genetic diseases ⚠
• p.Gly126Val Single submitter familial Mediterranean fever ⚠
• p.Gly129Arg Single submitter familial Mediterranean fever ⚠
• p.Gly131Asp Single submitter familial Mediterranean fever ⚠
• p.Gly138fs Single submitter familial Mediterranean fever
• p.Gly150Arg Single submitter familial Mediterranean fever ⚠
• p.Gly152Ala Single submitter familial Mediterranean fever ⚠
• p.Gly152Arg Single submitter familial Mediterranean fever ⚠
• p.Gly168Val Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Gly189Arg Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Gly189Ser Single submitter autosomal recessive congenital ichthyosis ⚠
• p.Gly196Ala Single submitter familial Mediterranean fever ⚠
• p.Gly196Glu Single submitter ⚠
• p.Gly218Arg Single submitter familial Mediterranean fever ⚠
• p.Gly222Arg Single submitter familial Mediterranean fever ⚠
• p.Gly250Ala Single submitter familial Mediterranean fever ⚠
• p.Gly294Val Single submitter familial Mediterranean fever ⚠
• p.Gly296fs Single submitter familial Mediterranean fever
• p.Gly325Asp Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Gly340Arg Single submitter familial Mediterranean fever ⚠
• p.Gly340Glu Single submitter familial Mediterranean fever ⚠
• p.Gly488Ala Single submitter familial Mediterranean fever ⚠
• p.Gly488Asp Single submitter familial Mediterranean fever ⚠
• p.Gly492Arg Single submitter Inborn genetic diseases ⚠
• p.Gly514Glu Single submitter familial Mediterranean fever ⚠
• p.Gly750Arg Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Gly764Ala Single submitter familial Mediterranean fever ⚠
• p.Gly776Ala Single submitter familial Mediterranean fever ⚠
• p.Gly779Val Single submitter familial Mediterranean fever ⚠
• p.His123Asp Single submitter familial Mediterranean fever ⚠
• p.His123Leu Single submitter autoinflammatory syndrome ⚠
• p.His341Gln Single submitter familial Mediterranean fever ⚠
• p.His359Asn Single submitter familial Mediterranean fever ⚠
• p.His378Gln Single submitter ⚠
• p.His404Gln Single submitter familial Mediterranean fever ⚠
• p.His419Asn Single submitter familial Mediterranean fever ⚠
• p.His87fs Single submitter familial Mediterranean fever
• p.Ile247Val Single submitter familial Mediterranean fever ⚠
• p.Ile397Thr Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Ile412Thr Single submitter Inborn genetic diseases ⚠
• p.Ile412Val Single submitter ⚠
• p.Ile423Ser Single submitter familial Mediterranean fever ⚠
• p.Ile423Val Single submitter familial Mediterranean fever
• p.Ile506Val Single submitter familial Mediterranean fever ⚠
• p.Ile557Met Single submitter ⚠
• p.Ile740Met Single submitter Inborn genetic diseases ⚠
• p.Ile77Thr Single submitter Inborn genetic diseases ⚠
• p.Ile77Val Single submitter familial Mediterranean fever, autosomal dominant ⚠
• p.Leu13Gln Single submitter Inborn genetic diseases ⚠
• p.Leu169fs Single submitter
• p.Leu182fs Single submitter familial Mediterranean fever, autosomal dominant
• p.Leu213Pro Single submitter familial Mediterranean fever