| 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]|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]|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 disorders [RCV003335011]|Recurrent fever [RCV003325449]|not provided [RCV000216751] |
Chr16:3243407 [GRCh38]
Chr16:3293407 [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 condition [RCV003407260]|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]|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 condition [RCV003891426]|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]|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 condition [RCV003914798]|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, 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 condition [RCV003390635]|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]|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]|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 condition [RCV003934858]|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.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.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.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 condition [RCV003421979]|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 condition [RCV003952530]|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 |
| NM_000243.3(MEFV):c.530C>T (p.Thr177Ile) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126480]|Familial Mediterranean fever [RCV000083780]|Familial Mediterranean fever, autosomal dominant [RCV003126479]|not provided [RCV001811393] |
Chr16:3254538 [GRCh38]
Chr16:3304538 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance|not provided |
| NM_000243.3(MEFV):c.536G>T (p.Ser179Ile) |
single nucleotide variant |
Familial Mediterranean fever [RCV000083781]|not provided [RCV003421980] |
Chr16:3254532 [GRCh38]
Chr16:3304532 [GRCh37]
Chr16:16p13.3 |
uncertain significance|not provided |
| NM_000243.3(MEFV):c.539C>G (p.Pro180Arg) |
single nucleotide variant |
Familial Mediterranean fever [RCV000083782] |
Chr16:3254529 [GRCh38]
Chr16:3304529 [GRCh37]
Chr16:16p13.3 |
uncertain significance|not provided |
| NM_000243.3(MEFV):c.540G>C (p.Pro180=) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126482]|Familial Mediterranean fever [RCV000083783]|Familial Mediterranean fever, autosomal dominant [RCV003126481]|not specified [RCV000610894] |
Chr16:3254528 [GRCh38]
Chr16:3304528 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262648]|Familial Mediterranean fever [RCV000083784]|Familial Mediterranean fever, autosomal dominant [RCV001731372]|MEFV-related condition [RCV003415855]|not provided [RCV000587560]|not specified [RCV000175563] |
Chr16:3254482 [GRCh38]
Chr16:3304482 [GRCh37]
Chr16:16p13.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000243.3(MEFV):c.606_621dup (p.Ser208fs) |
duplication |
Familial Mediterranean fever [RCV000083785] |
Chr16:3254446..3254447 [GRCh38]
Chr16:3304446..3304447 [GRCh37]
Chr16:16p13.3 |
uncertain significance|not provided |
| NM_000243.3(MEFV):c.657C>T (p.Gly219=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262649]|Familial Mediterranean fever [RCV000083786]|Inborn genetic diseases [RCV003298137]|MEFV-related condition [RCV003891582]|not provided [RCV001705811]|not specified [RCV000251868] |
Chr16:3254411 [GRCh38]
Chr16:3304411 [GRCh37]
Chr16:16p13.3 |
benign|likely benign|uncertain significance|not provided |
| NM_000243.3(MEFV):c.663G>C (p.Pro221=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262650]|Familial Mediterranean fever [RCV000083787]|MEFV-related condition [RCV003925088]|not provided [RCV003884348]|not specified [RCV000126743] |
Chr16:3254405 [GRCh38]
Chr16:3304405 [GRCh37]
Chr16:16p13.3 |
benign|likely benign|uncertain significance|not provided |
| NM_000243.3(MEFV):c.675G>C (p.Glu225Asp) |
single nucleotide variant |
Familial Mediterranean fever [RCV000083788]|not provided [RCV003129776] |
Chr16:3254393 [GRCh38]
Chr16:3304393 [GRCh37]
Chr16:16p13.3 |
uncertain significance|not provided |
| NM_000243.3(MEFV):c.688G>A (p.Glu230Lys) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262651]|Familial Mediterranean fever [RCV000083789]|Familial Mediterranean fever [RCV001027835]|Familial Mediterranean fever [RCV003224143]|not provided [RCV000213898]|not specified [RCV002265603] |
Chr16:3254380 [GRCh38]
Chr16:3304380 [GRCh37]
Chr16:16p13.3 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000243.3(MEFV):c.694T>C (p.Tyr232His) |
single nucleotide variant |
Familial Mediterranean fever [RCV000083790] |
Chr16:3254374 [GRCh38]
Chr16:3304374 [GRCh37]
Chr16:16p13.3 |
not provided |
| NM_000243.3(MEFV):c.707G>T (p.Gly236Val) |
single nucleotide variant |
Familial Mediterranean fever [RCV000083791] |
Chr16:3254361 [GRCh38]
Chr16:3304361 [GRCh37]
Chr16:16p13.3 |
not provided |
| NM_000243.3(MEFV):c.726C>A (p.Ser242Arg) |
single nucleotide variant |
Familial Mediterranean fever [RCV000083792]|Familial Mediterranean fever, autosomal dominant [RCV001804836] |
Chr16:3254342 [GRCh38]
Chr16:3304342 [GRCh37]
Chr16:16p13.3 |
pathogenic|not provided |
| NM_000243.3(MEFV):c.726C>G (p.Ser242Arg) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV001174523]|Familial Mediterranean fever [RCV000083793]|not provided [RCV001172095] |
Chr16:3254342 [GRCh38]
Chr16:3304342 [GRCh37]
Chr16:16p13.3 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000243.3(MEFV):c.726C>T (p.Ser242=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262652]|Familial Mediterranean fever [RCV000083794] |
Chr16:3254342 [GRCh38]
Chr16:3304342 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance|not provided |
| NM_000243.3(MEFV):c.751G>A (p.Glu251Lys) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126484]|Autoinflammatory syndrome [RCV002262653]|Familial Mediterranean fever [RCV000083795]|Familial Mediterranean fever, autosomal dominant [RCV003126483]|not provided [RCV001701743] |
Chr16:3254317 [GRCh38]
Chr16:3304317 [GRCh37]
Chr16:16p13.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000243.3(MEFV):c.761_764dup (p.Asn256fs) |
duplication |
Familial Mediterranean fever [RCV000083796]|not provided [RCV003421981] |
Chr16:3254303..3254304 [GRCh38]
Chr16:3304303..3304304 [GRCh37]
Chr16:16p13.3 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000243.3(MEFV):c.775A>G (p.Ile259Val) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126486]|Autoinflammatory syndrome [RCV002262654]|Familial Mediterranean fever [RCV000083797]|Familial Mediterranean fever [RCV002505014]|Familial Mediterranean fever, autosomal dominant [RCV003126485]|MEFV-related condition [RCV003407470]|not provided [RCV000587366]|not specified [RCV001000132] |
Chr16:3254293 [GRCh38]
Chr16:3304293 [GRCh37]
Chr16:16p13.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000243.3(MEFV):c.803C>T (p.Ala268Val) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126488]|Familial Mediterranean fever [RCV000083798]|Familial Mediterranean fever [RCV002498443]|Familial Mediterranean fever, autosomal dominant [RCV003126487] |
Chr16:3254265 [GRCh38]
Chr16:3304265 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance|not provided |
| NM_000243.3(MEFV):c.833G>C (p.Arg278Pro) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262655]|Familial Mediterranean fever [RCV000083799] |
Chr16:3254235 [GRCh38]
Chr16:3304235 [GRCh37]
Chr16:16p13.3 |
uncertain significance|not provided |
| NM_000243.3(MEFV):c.848C>G (p.Pro283Arg) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126490]|Familial Mediterranean fever [RCV000083800]|Familial Mediterranean fever [RCV000765291]|Familial Mediterranean fever, autosomal dominant [RCV003126489]|not provided [RCV000221070] |
Chr16:3254220 [GRCh38]
Chr16:3304220 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance|not provided |
| NM_000243.3(MEFV):c.848C>T (p.Pro283Leu) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126492]|Familial Mediterranean fever [RCV000083801]|Familial Mediterranean fever [RCV002505015]|Familial Mediterranean fever, autosomal dominant [RCV003126491] |
Chr16:3254220 [GRCh38]
Chr16:3304220 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance|not provided |
| NM_000243.3(MEFV):c.866C>T (p.Ala289Val) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126494]|Autoinflammatory syndrome [RCV002262656]|Familial Mediterranean fever [RCV000083802]|Familial Mediterranean fever [RCV002483165]|Familial Mediterranean fever, autosomal dominant [RCV003126493]|not provided [RCV000594000]|not specified [RCV003114248] |
Chr16:3254202 [GRCh38]
Chr16:3304202 [GRCh37]
Chr16:16p13.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000243.3(MEFV):c.896A>G (p.Glu299Gly) |
single nucleotide variant |
Familial Mediterranean fever [RCV000083803] |
Chr16:3254172 [GRCh38]
Chr16:3304172 [GRCh37]
Chr16:16p13.3 |
uncertain significance|not provided |
| NM_000243.3(MEFV):c.911-22T>G |
single nucleotide variant |
Familial Mediterranean fever [RCV000083804] |
Chr16:3249802 [GRCh38]
Chr16:3299802 [GRCh37]
Chr16:16p13.3 |
not provided |
| NM_000243.3(MEFV):c.911-78T>C |
single nucleotide variant |
Familial Mediterranean fever [RCV000083805]|not provided [RCV001588912] |
Chr16:3249858 [GRCh38]
Chr16:3299858 [GRCh37]
Chr16:16p13.3 |
likely benign|not provided |
| NM_000243.3(MEFV):c.926C>T (p.Thr309Met) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262657]|Familial Mediterranean fever [RCV000083806]|not provided [RCV001719850]|not specified [RCV000214115] |
Chr16:3249765 [GRCh38]
Chr16:3299765 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000243.3(MEFV):c.955G>A (p.Glu319Lys) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126496]|Familial Mediterranean fever [RCV000083807]|Familial Mediterranean fever, autosomal dominant [RCV003126495]|not provided [RCV001701500] |
Chr16:3249736 [GRCh38]
Chr16:3299736 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance|not provided |
| NM_000243.3(MEFV):c.983T>C (p.Val328Ala) |
single nucleotide variant |
Familial Mediterranean fever [RCV000083808] |
Chr16:3249708 [GRCh38]
Chr16:3299708 [GRCh37]
Chr16:16p13.3 |
not provided |
| NM_000243.3(MEFV):c.986G>A (p.Arg329His) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262658]|Cryptorchidism [RCV000735285]|Familial Mediterranean fever [RCV000083809]|Familial Mediterranean fever [RCV001280973]|Familial Mediterranean fever [RCV003224144]|not provided [RCV000585083]|not specified [RCV000855598] |
Chr16:3249705 [GRCh38]
Chr16:3299705 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000243.3(MEFV):c.250G>C (p.Glu84Gln) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126098]|Familial Mediterranean fever [RCV002041254]|Familial Mediterranean fever [RCV002486745]|Familial Mediterranean fever, autosomal dominant [RCV003126097] |
Chr16:3256338 [GRCh38]
Chr16:3306338 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1764= (p.Pro588=) |
single nucleotide variant |
Familial Mediterranean fever [RCV000545730]|not provided [RCV001812066]|not specified [RCV000126738] |
Chr16:3243888 [GRCh38]
Chr16:3293888 [GRCh37]
Chr16:16p13.3 |
benign |
| NM_000243.3(MEFV):c.549G>A (p.Pro183=) |
single nucleotide variant |
Familial Mediterranean fever [RCV000802334]|not provided [RCV000757454]|not specified [RCV000126741] |
Chr16:3254519 [GRCh38]
Chr16:3304519 [GRCh37]
Chr16:16p13.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.42G>A (p.Glu14=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262730]|Familial Mediterranean fever [RCV001081766]|Inborn genetic diseases [RCV002326835]|MEFV-related condition [RCV003965054]|not provided [RCV001812067]|not specified [RCV000126744] |
Chr16:3256546 [GRCh38]
Chr16:3306546 [GRCh37]
Chr16:16p13.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.1356+12G>C |
single nucleotide variant |
Familial Mediterranean fever [RCV003605604]|not specified [RCV000126745] |
Chr16:3248897 [GRCh38]
Chr16:3298897 [GRCh37]
Chr16:16p13.3 |
benign|likely benign |
| NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262770]|Familial Mediterranean fever [RCV001083220]|not provided [RCV000588731]|not specified [RCV000175565] |
Chr16:3254739 [GRCh38]
Chr16:3304739 [GRCh37]
Chr16:16p13.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.1234A>G (p.Ile412Val) |
single nucleotide variant |
not provided [RCV001813179] |
Chr16:3249457 [GRCh38]
Chr16:3299457 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.448G>A (p.Gly150Arg) |
single nucleotide variant |
Familial Mediterranean fever [RCV001830114]|not specified [RCV001293565] |
Chr16:3254620 [GRCh38]
Chr16:3304620 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.199G>A (p.Val67Met) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127791]|Familial Mediterranean fever [RCV001871759]|Familial Mediterranean fever [RCV002476438]|Familial Mediterranean fever, autosomal dominant [RCV003127790]|not provided [RCV001310311] |
Chr16:3256389 [GRCh38]
Chr16:3306389 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1166A>T (p.Asp389Val) |
single nucleotide variant |
Familial Mediterranean fever [RCV000172873] |
Chr16:3249525 [GRCh38]
Chr16:3299525 [GRCh37]
Chr16:16p13.3 |
not provided |
| GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 |
copy number gain |
See cases [RCV000136687] |
Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3 |
pathogenic |
| GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 |
copy number gain |
See cases [RCV000139166] |
Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12 |
pathogenic |
| GRCh38/hg38 16p13.3(chr16:3061267-3666094)x3 |
copy number gain |
See cases [RCV000139806] |
Chr16:3061267..3666094 [GRCh38]
Chr16:3111268..3716095 [GRCh37]
Chr16:3051269..3656096 [NCBI36]
Chr16:16p13.3 |
uncertain significance |
| GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 |
copy number gain |
See cases [RCV000143710] |
Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11 |
pathogenic |
| GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 |
copy number gain |
See cases [RCV000203445] |
Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2 |
pathogenic |
| GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 |
copy number gain |
Breast ductal adenocarcinoma [RCV000207053] |
Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2 |
uncertain significance |
| GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 |
copy number gain |
Breast ductal adenocarcinoma [RCV000207326] |
Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1382G>A (p.Arg461Gln) |
single nucleotide variant |
Familial Mediterranean fever [RCV001089281]|not provided [RCV000589998] |
Chr16:3247221 [GRCh38]
Chr16:3297221 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.2141C>T (p.Pro714Leu) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126641]|Familial Mediterranean fever [RCV002500741]|Familial Mediterranean fever [RCV003126639]|Familial Mediterranean fever, autosomal dominant [RCV003126640]|not provided [RCV000219567] |
Chr16:3243346 [GRCh38]
Chr16:3293346 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.427_442dup (p.Glu148fs) |
duplication |
not provided [RCV000223609] |
Chr16:3254625..3254626 [GRCh38]
Chr16:3304625..3304626 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.436C>T (p.Gln146Ter) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126618]|Familial Mediterranean fever [RCV000818575]|Familial Mediterranean fever, autosomal dominant [RCV003126617]|not provided [RCV000222115]|not specified [RCV000781527] |
Chr16:3254632 [GRCh38]
Chr16:3304632 [GRCh37]
Chr16:16p13.3 |
pathogenic|likely benign|uncertain significance |
| NM_000243.3(MEFV):c.826G>T (p.Glu276Ter) |
single nucleotide variant |
Familial Mediterranean fever [RCV002519745]|not provided [RCV000217401] |
Chr16:3254242 [GRCh38]
Chr16:3304242 [GRCh37]
Chr16:16p13.3 |
pathogenic|uncertain significance |
| NM_000243.3(MEFV):c.18T>A (p.Ser6Arg) |
single nucleotide variant |
not provided [RCV000219881] |
Chr16:3256570 [GRCh38]
Chr16:3306570 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.547C>A (p.Pro183Thr) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126626]|Autoinflammatory syndrome [RCV002262822]|Familial Mediterranean fever [RCV001247010]|Familial Mediterranean fever [RCV002500739]|Familial Mediterranean fever, autosomal dominant [RCV003126625]|not provided [RCV000213498] |
Chr16:3254521 [GRCh38]
Chr16:3304521 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| GRCh37/hg19 16p13.3(chr16:3219476-3378736)x3 |
copy number gain |
not provided [RCV000762774] |
Chr16:3219476..3378736 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.233A>G (p.Asn78Ser) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126634]|Familial Mediterranean fever [RCV001121438]|Familial Mediterranean fever, autosomal dominant [RCV003126633]|not provided [RCV000215498] |
Chr16:3256355 [GRCh38]
Chr16:3306355 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.959G>C (p.Gly320Ala) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126628]|Familial Mediterranean fever [RCV001349028]|Familial Mediterranean fever [RCV002485438]|Familial Mediterranean fever, autosomal dominant [RCV003126627]|not provided [RCV000217797] |
Chr16:3249732 [GRCh38]
Chr16:3299732 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.2040G>T (p.Met680Ile) |
single nucleotide variant |
Familial Mediterranean fever [RCV003605614]|not provided [RCV000220209] |
Chr16:3243447 [GRCh38]
Chr16:3293447 [GRCh37]
Chr16:16p13.3 |
pathogenic|likely pathogenic |
| NM_000243.3(MEFV):c.233A>T (p.Asn78Ile) |
single nucleotide variant |
not provided [RCV000217942] |
Chr16:3256355 [GRCh38]
Chr16:3306355 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.577G>A (p.Ala193Thr) |
single nucleotide variant |
Familial Mediterranean fever [RCV002519744]|not provided [RCV000215867] |
Chr16:3254491 [GRCh38]
Chr16:3304491 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2146A>G (p.Lys716Glu) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126632]|Familial Mediterranean fever [RCV000795673]|Familial Mediterranean fever, autosomal dominant [RCV003126631]|not provided [RCV000218313]|not specified [RCV001328382] |
Chr16:3243341 [GRCh38]
Chr16:3293341 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.2227T>C (p.Phe743Leu) |
single nucleotide variant |
Familial Mediterranean fever [RCV001833229]|not provided [RCV000214222] |
Chr16:3243260 [GRCh38]
Chr16:3293260 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.124C>T (p.Arg42Trp) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262821]|Familial Mediterranean fever [RCV000632798]|not provided [RCV000757453]|not specified [RCV000780402] |
Chr16:3256464 [GRCh38]
Chr16:3306464 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.407G>A (p.Gly136Glu) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126616]|Familial Mediterranean fever [RCV000688336]|Familial Mediterranean fever, autosomal dominant [RCV003126615]|not provided [RCV000218405] |
Chr16:3254661 [GRCh38]
Chr16:3304661 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.487G>C (p.Glu163Gln) |
single nucleotide variant |
Familial Mediterranean fever [RCV001828091]|MEFV-related condition [RCV003967604]|not provided [RCV000222553] |
Chr16:3254581 [GRCh38]
Chr16:3304581 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1066C>G (p.Gln356Glu) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126636]|Familial Mediterranean fever [RCV001833230]|Familial Mediterranean fever [RCV002478820]|Familial Mediterranean fever, autosomal dominant [RCV003126635]|not provided [RCV000214481] |
Chr16:3249625 [GRCh38]
Chr16:3299625 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.796A>G (p.Lys266Glu) |
single nucleotide variant |
Familial Mediterranean fever [RCV001833228]|not provided [RCV000221112] |
Chr16:3254272 [GRCh38]
Chr16:3304272 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.365A>G (p.Asp122Gly) |
single nucleotide variant |
not provided [RCV000214772] |
Chr16:3254703 [GRCh38]
Chr16:3304703 [GRCh37]
Chr16:16p13.3 |
pathogenic|uncertain significance |
| NM_000243.3(MEFV):c.460T>C (p.Ser154Pro) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126622]|Familial Mediterranean fever [RCV000695122]|Familial Mediterranean fever [RCV002494603]|Familial Mediterranean fever, autosomal dominant [RCV001731531]|not provided [RCV000218924]|not specified [RCV001193204] |
Chr16:3254608 [GRCh38]
Chr16:3304608 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.307G>C (p.Asp103His) |
single nucleotide variant |
not provided [RCV000221488] |
Chr16:3254761 [GRCh38]
Chr16:3304761 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1759+1G>A |
single nucleotide variant |
not provided [RCV000223214] |
Chr16:3244253 [GRCh38]
Chr16:3294253 [GRCh37]
Chr16:16p13.3 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.*245G>A |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126599]|Familial Mediterranean fever [RCV000209870]|Familial Mediterranean fever, autosomal dominant [RCV003126598]|not provided [RCV001689737] |
Chr16:3242896 [GRCh38]
Chr16:3292896 [GRCh37]
Chr16:16p13.3 |
benign|likely benign |
| NM_000243.3(MEFV):c.*267G>A |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126601]|Familial Mediterranean fever [RCV000209906]|Familial Mediterranean fever, autosomal dominant [RCV003126600]|not provided [RCV001689738] |
Chr16:3242874 [GRCh38]
Chr16:3292874 [GRCh37]
Chr16:16p13.3 |
benign|likely benign |
| NM_000243.3(MEFV):c.*133G>A |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126603]|Familial Mediterranean fever [RCV000209942]|Familial Mediterranean fever, autosomal dominant [RCV003126602]|not provided [RCV001689739] |
Chr16:3243008 [GRCh38]
Chr16:3293008 [GRCh37]
Chr16:16p13.3 |
benign|likely benign |
| NM_000243.3(MEFV):c.1886dup (p.Pro630fs) |
duplication |
Acute febrile neutrophilic dermatosis [RCV003126630]|Familial Mediterranean fever [RCV000801477]|Familial Mediterranean fever [RCV002485439]|Familial Mediterranean fever, autosomal dominant [RCV003126629]|not provided [RCV000223444]|not specified [RCV003226258] |
Chr16:3243600..3243601 [GRCh38]
Chr16:3293600..3293601 [GRCh37]
Chr16:16p13.3 |
likely pathogenic|likely benign|uncertain significance |
| NM_000243.3(MEFV):c.439C>G (p.Pro147Ala) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126621]|Familial Mediterranean fever [RCV002478819]|Familial Mediterranean fever [RCV003126619]|Familial Mediterranean fever, autosomal dominant [RCV003126620]|not provided [RCV000215134] |
Chr16:3254629 [GRCh38]
Chr16:3304629 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.511G>A (p.Ala171Thr) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126624]|Familial Mediterranean fever [RCV001371018]|Familial Mediterranean fever, autosomal dominant [RCV003126623]|not provided [RCV000216945] |
Chr16:3254557 [GRCh38]
Chr16:3304557 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1337A>C (p.Glu446Ala) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126638]|Autoinflammatory syndrome [RCV002262826]|Familial Mediterranean fever [RCV000632789]|Familial Mediterranean fever [RCV002478821]|Familial Mediterranean fever, autosomal dominant [RCV003126637]|not provided [RCV000219419] |
Chr16:3248928 [GRCh38]
Chr16:3298928 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1782G>A (p.Gln594=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002148999]|not provided [RCV003120833] |
Chr16:3243870 [GRCh38]
Chr16:3293870 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.-13C>G |
single nucleotide variant |
not provided [RCV000757456] |
Chr16:3256600 [GRCh38]
Chr16:3306600 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1767G>A (p.Glu589=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003605617]|not specified [RCV000235800] |
Chr16:3243885 [GRCh38]
Chr16:3293885 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.277+13A>G |
single nucleotide variant |
not specified [RCV000237097] |
Chr16:3256298 [GRCh38]
Chr16:3306298 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1793-16C>G |
single nucleotide variant |
Familial Mediterranean fever [RCV003497840]|not specified [RCV000237024] |
Chr16:3243710 [GRCh38]
Chr16:3293710 [GRCh37]
Chr16:16p13.3 |
likely benign |
| GRCh37/hg19 16p13.3(chr16:3104050-3722491)x3 |
copy number gain |
See cases [RCV000240036] |
Chr16:3104050..3722491 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1252G>A (p.Glu418Lys) |
single nucleotide variant |
Familial Mediterranean fever [RCV001374637] |
Chr16:3249439 [GRCh38]
Chr16:3299439 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.909C>A (p.Thr303=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001374644] |
Chr16:3254159 [GRCh38]
Chr16:3304159 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| GRCh37/hg19 16p13.3(chr16:3273336-3361764)x3 |
copy number gain |
See cases [RCV000240282] |
Chr16:3273336..3361764 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| GRCh37/hg19 16p13.3(chr16:3273336-3350698)x3 |
copy number gain |
See cases [RCV000240479] |
Chr16:3273336..3350698 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.198C>T (p.Ala66=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002263739]|Familial Mediterranean fever [RCV000549424]|not provided [RCV001712489]|not specified [RCV000589254] |
Chr16:3256390 [GRCh38]
Chr16:3306390 [GRCh37]
Chr16:16p13.3 |
benign|likely benign|uncertain significance |
| GRCh37/hg19 16p13.3(chr16:2867891-3942436)x3 |
copy number gain |
See cases [RCV000240318] |
Chr16:2867891..3942436 [GRCh37]
Chr16:16p13.3 |
pathogenic |
| NM_000243.3(MEFV):c.539C>A (p.Pro180Gln) |
single nucleotide variant |
Familial Mediterranean fever [RCV001828169]|not specified [RCV001420805] |
Chr16:3254529 [GRCh38]
Chr16:3304529 [GRCh37]
Chr16:16p13.3 |
pathogenic|uncertain significance |
| NM_000243.3(MEFV):c.1428A>G (p.Gln476=) |
single nucleotide variant |
Familial Mediterranean fever [RCV000399975]|Familial Mediterranean fever, autosomal dominant [RCV001533717]|Inborn genetic diseases [RCV002392758]|not provided [RCV001706293]|not specified [RCV000244842] |
Chr16:3247175 [GRCh38]
Chr16:3297175 [GRCh37]
Chr16:16p13.3 |
benign|likely benign |
| NM_000243.3(MEFV):c.452G>C (p.Arg151Thr) |
single nucleotide variant |
not provided [RCV000302718] |
Chr16:3254616 [GRCh38]
Chr16:3304616 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.*818A>C |
single nucleotide variant |
Familial Mediterranean fever [RCV000259766] |
Chr16:3242323 [GRCh38]
Chr16:3292323 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.744T>C (p.Ser248=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001403432]|not provided [RCV000274837] |
Chr16:3254324 [GRCh38]
Chr16:3304324 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1957C>T (p.Arg653Cys) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126665]|Familial Mediterranean fever [RCV001276186]|Familial Mediterranean fever, autosomal dominant [RCV003126664]|not provided [RCV000587289] |
Chr16:3243530 [GRCh38]
Chr16:3293530 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.585G>A (p.Glu195=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262922]|Familial Mediterranean fever [RCV000272525]|Inborn genetic diseases [RCV002356371]|not provided [RCV001711853]|not specified [RCV000394728] |
Chr16:3254483 [GRCh38]
Chr16:3304483 [GRCh37]
Chr16:16p13.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.*74C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV000277511]|not provided [RCV001561500] |
Chr16:3243067 [GRCh38]
Chr16:3293067 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126660]|Familial Mediterranean fever [RCV001044845]|Familial Mediterranean fever [RCV002487174]|Familial Mediterranean fever, autosomal dominant [RCV003126659]|not provided [RCV000398473]|not specified [RCV001264418] |
Chr16:3248924 [GRCh38]
Chr16:3298924 [GRCh37]
Chr16:16p13.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.*1056G>T |
single nucleotide variant |
Familial Mediterranean fever [RCV000268110] |
Chr16:3242085 [GRCh38]
Chr16:3292085 [GRCh37]
Chr16:16p13.3 |
benign|likely benign |
| NM_000243.3(MEFV):c.932C>T (p.Ala311Val) |
single nucleotide variant |
Familial Mediterranean fever [RCV001089437]|not provided [RCV000725291]|not specified [RCV003155142] |
Chr16:3249759 [GRCh38]
Chr16:3299759 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.217G>A (p.Val73Ile) |
single nucleotide variant |
Familial Mediterranean fever [RCV001374650] |
Chr16:3256371 [GRCh38]
Chr16:3306371 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.289C>A (p.Gln97Lys) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126787]|Autoinflammatory syndrome [RCV002263722]|Familial Mediterranean fever [RCV000632795]|Familial Mediterranean fever, autosomal dominant [RCV003126786]|not provided [RCV000514677] |
Chr16:3254779 [GRCh38]
Chr16:3304779 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1779T>A (p.Ala593=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002263816]|Familial Mediterranean fever [RCV001401924]|not provided [RCV000585564] |
Chr16:3243873 [GRCh38]
Chr16:3293873 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.30G>A (p.Leu10=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001278369] |
Chr16:3256558 [GRCh38]
Chr16:3306558 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1035A>T (p.Ser345=) |
single nucleotide variant |
not provided [RCV000488355] |
Chr16:3249656 [GRCh38]
Chr16:3299656 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.941_942delinsAT (p.Arg314His) |
indel |
Familial Mediterranean fever [RCV003227767]|not provided [RCV000488915] |
Chr16:3249749..3249750 [GRCh38]
Chr16:3299749..3299750 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1440dup (p.Val481fs) |
duplication |
not provided [RCV000488972] |
Chr16:3247162..3247163 [GRCh38]
Chr16:3297162..3297163 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1803T>A (p.Ile601=) |
single nucleotide variant |
Familial Mediterranean fever [RCV000329543]|Inborn genetic diseases [RCV002411210]|not provided [RCV001090249]|not specified [RCV000507285] |
Chr16:3243684 [GRCh38]
Chr16:3293684 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.*724G>A |
single nucleotide variant |
Familial Mediterranean fever [RCV000329918] |
Chr16:3242417 [GRCh38]
Chr16:3292417 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.*639G>A |
single nucleotide variant |
Familial Mediterranean fever [RCV000344931] |
Chr16:3242502 [GRCh38]
Chr16:3292502 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1527C>T (p.Leu509=) |
single nucleotide variant |
Familial Mediterranean fever [RCV000380391] |
Chr16:3247076 [GRCh38]
Chr16:3297076 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.*474C>G |
single nucleotide variant |
Familial Mediterranean fever [RCV000345914] |
Chr16:3242667 [GRCh38]
Chr16:3292667 [GRCh37]
Chr16:16p13.3 |
benign|likely benign |
| NM_000243.3(MEFV):c.*543C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV000380887] |
Chr16:3242598 [GRCh38]
Chr16:3292598 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.532C>T (p.Arg178Trp) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126792]|Familial Mediterranean fever [RCV001834689]|Familial Mediterranean fever [RCV002497019]|Familial Mediterranean fever, autosomal dominant [RCV003126791]|not provided [RCV000520666] |
Chr16:3254536 [GRCh38]
Chr16:3304536 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.*743T>C |
single nucleotide variant |
Familial Mediterranean fever [RCV000293660] |
Chr16:3242398 [GRCh38]
Chr16:3292398 [GRCh37]
Chr16:16p13.3 |
benign|likely benign |
| NM_000243.3(MEFV):c.*19C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV000332579] |
Chr16:3243122 [GRCh38]
Chr16:3293122 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.*467_*469del |
deletion |
Familial Mediterranean fever [RCV000402334] |
Chr16:3242672..3242674 [GRCh38]
Chr16:3292672..3292674 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.289C>T (p.Gln97Ter) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126673]|Familial Mediterranean fever [RCV000293866]|Familial Mediterranean fever [RCV002480142]|Familial Mediterranean fever, autosomal dominant [RCV003126672]|not provided [RCV002522844] |
Chr16:3254779 [GRCh38]
Chr16:3304779 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.277G>C (p.Glu93Gln) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126675]|Familial Mediterranean fever [RCV000348765]|Familial Mediterranean fever, autosomal dominant [RCV003126674]|not provided [RCV001812836] |
Chr16:3256311 [GRCh38]
Chr16:3306311 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.-15C>G |
single nucleotide variant |
Familial Mediterranean fever [RCV000294823]|not provided [RCV001718665]|not specified [RCV000438166] |
Chr16:3256602 [GRCh38]
Chr16:3306602 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.*679C>G |
single nucleotide variant |
Familial Mediterranean fever [RCV000294923] |
Chr16:3242462 [GRCh38]
Chr16:3292462 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.*779del |
deletion |
Familial Mediterranean fever [RCV000319508] |
Chr16:3242362 [GRCh38]
Chr16:3292362 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1736G>A (p.Arg579His) |
single nucleotide variant |
Familial Mediterranean fever [RCV000285033]|Familial Mediterranean fever [RCV002495010]|not provided [RCV002261051] |
Chr16:3244277 [GRCh38]
Chr16:3294277 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.651G>C (p.Ala217=) |
single nucleotide variant |
Familial Mediterranean fever [RCV000307645] |
Chr16:3254417 [GRCh38]
Chr16:3304417 [GRCh37]
Chr16:16p13.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.1513G>T (p.Asp505Tyr) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126669]|Familial Mediterranean fever [RCV000336445]|Familial Mediterranean fever [RCV002487407]|Familial Mediterranean fever, autosomal dominant [RCV003126668]|not provided [RCV001358002] |
Chr16:3247090 [GRCh38]
Chr16:3297090 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1406T>C (p.Val469Ala) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126671]|Autoinflammatory syndrome [RCV002263010]|Familial Mediterranean fever [RCV000336657]|Familial Mediterranean fever [RCV002487408]|Familial Mediterranean fever, autosomal dominant [RCV003126670]|not specified [RCV002468940] |
Chr16:3247197 [GRCh38]
Chr16:3297197 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1522C>T (p.Leu508=) |
single nucleotide variant |
Familial Mediterranean fever [RCV000286090] |
Chr16:3247081 [GRCh38]
Chr16:3297081 [GRCh37]
Chr16:16p13.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.*701G>A |
single nucleotide variant |
Familial Mediterranean fever [RCV000389231] |
Chr16:3242440 [GRCh38]
Chr16:3292440 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1730C>A (p.Thr577Asn) |
single nucleotide variant |
Familial Mediterranean fever [RCV000408827]|not provided [RCV001269727] |
Chr16:3244283 [GRCh38]
Chr16:3294283 [GRCh37]
Chr16:16p13.3 |
pathogenic|uncertain significance |
| NM_000243.3(MEFV):c.*280G>C |
single nucleotide variant |
Familial Mediterranean fever [RCV000297771] |
Chr16:3242861 [GRCh38]
Chr16:3292861 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.*1029G>C |
single nucleotide variant |
Familial Mediterranean fever [RCV000323164] |
Chr16:3242112 [GRCh38]
Chr16:3292112 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.*836_*837insACT |
insertion |
Familial Mediterranean fever [RCV000354600] |
Chr16:3242304..3242305 [GRCh38]
Chr16:3292304..3292305 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1173T>C (p.Asp391=) |
single nucleotide variant |
Familial Mediterranean fever [RCV000311158]|not provided [RCV001706508] |
Chr16:3249518 [GRCh38]
Chr16:3299518 [GRCh37]
Chr16:16p13.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.*761del |
deletion |
Familial Mediterranean fever [RCV000374224] |
Chr16:3242380 [GRCh38]
Chr16:3292380 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.*403A>C |
single nucleotide variant |
Familial Mediterranean fever [RCV000342558] |
Chr16:3242738 [GRCh38]
Chr16:3292738 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.*169C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV000313096] |
Chr16:3242972 [GRCh38]
Chr16:3292972 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.564C>T (p.Pro188=) |
single nucleotide variant |
Familial Mediterranean fever [RCV000327623]|not provided [RCV000829169] |
Chr16:3254504 [GRCh38]
Chr16:3304504 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.*475A>G |
single nucleotide variant |
Familial Mediterranean fever [RCV000291003] |
Chr16:3242666 [GRCh38]
Chr16:3292666 [GRCh37]
Chr16:16p13.3 |
benign|likely benign |
| NM_000243.3(MEFV):c.*466_*468del |
deletion |
Familial Mediterranean fever [RCV000301778] |
Chr16:3242673..3242675 [GRCh38]
Chr16:3292673..3292675 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.*1080A>G |
single nucleotide variant |
Familial Mediterranean fever [RCV000361418] |
Chr16:3242061 [GRCh38]
Chr16:3292061 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.66G>A (p.Glu22=) |
single nucleotide variant |
Familial Mediterranean fever [RCV000398218]|Inborn genetic diseases [RCV002365373] |
Chr16:3256522 [GRCh38]
Chr16:3306522 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.*292C>G |
single nucleotide variant |
Familial Mediterranean fever [RCV000398516] |
Chr16:3242849 [GRCh38]
Chr16:3292849 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1061G>A (p.Arg354Gln) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126829]|Autoinflammatory syndrome [RCV002263819]|Familial Mediterranean fever [RCV000632792]|Familial Mediterranean fever [RCV002476271]|Familial Mediterranean fever, autosomal dominant [RCV001276301]|not provided [RCV000588244] |
Chr16:3249630 [GRCh38]
Chr16:3299630 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1622T>C (p.Val541Ala) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126833]|Familial Mediterranean fever [RCV001829616]|Familial Mediterranean fever [RCV002476273]|Familial Mediterranean fever, autosomal dominant [RCV003126832]|not provided [RCV000587448] |
Chr16:3244577 [GRCh38]
Chr16:3294577 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.621C>T (p.Ala207=) |
single nucleotide variant |
not specified [RCV000589538] |
Chr16:3254447 [GRCh38]
Chr16:3304447 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.2271C>T (p.Ser757=) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126835]|Familial Mediterranean fever [RCV000939022]|Familial Mediterranean fever [RCV002483565]|Familial Mediterranean fever, autosomal dominant [RCV003126834]|MEFV-related condition [RCV003900305]|not provided [RCV001811088]|not specified [RCV000589667] |
Chr16:3243216 [GRCh38]
Chr16:3293216 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.359C>T (p.Thr120Ile) |
single nucleotide variant |
not specified [RCV000590076] |
Chr16:3254709 [GRCh38]
Chr16:3304709 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1587+7G>A |
single nucleotide variant |
Familial Mediterranean fever [RCV000927730]|not provided [RCV003117357]|not specified [RCV000590407] |
Chr16:3247009 [GRCh38]
Chr16:3297009 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126800]|Autoinflammatory syndrome [RCV002263737]|Familial Mediterranean fever [RCV000532782]|Familial Mediterranean fever [RCV002483374]|Familial Mediterranean fever, autosomal dominant [RCV003126799]|not provided [RCV001591200] |
Chr16:3249468 [GRCh38]
Chr16:3299468 [GRCh37]
Chr16:16p13.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.1898C>T (p.Pro633Leu) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126804]|Familial Mediterranean fever [RCV000534641]|Familial Mediterranean fever [RCV002490969]|Familial Mediterranean fever, autosomal dominant [RCV003126803] |
Chr16:3243589 [GRCh38]
Chr16:3293589 [GRCh37]
Chr16:16p13.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.1211A>G (p.His404Arg) |
single nucleotide variant |
Behcet disease [RCV000416328]|Familial Mediterranean fever [RCV003105893]|not provided [RCV003221971] |
Chr16:3249480 [GRCh38]
Chr16:3299480 [GRCh37]
Chr16:16p13.3 |
pathogenic|uncertain significance |
| NM_000243.3(MEFV):c.1099C>G (p.Leu367Val) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126719]|Behcet disease [RCV000416346]|Familial Mediterranean fever [RCV002480275]|Familial Mediterranean fever [RCV002521488]|Familial Mediterranean fever, autosomal dominant [RCV003126718]|not provided [RCV003133255]|not specified [RCV001805036] |
Chr16:3249592 [GRCh38]
Chr16:3299592 [GRCh37]
Chr16:16p13.3 |
pathogenic|likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1222C>T (p.Arg408Trp) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126798]|Autoinflammatory syndrome [RCV002263736]|Familial Mediterranean fever [RCV000540246]|Familial Mediterranean fever [RCV002506300]|Familial Mediterranean fever, autosomal dominant [RCV003126797] |
Chr16:3249469 [GRCh38]
Chr16:3299469 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1873A>C (p.Lys625Gln) |
single nucleotide variant |
not specified [RCV000413005] |
Chr16:3243614 [GRCh38]
Chr16:3293614 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) |
copy number gain |
See cases [RCV000446555] |
Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2 |
pathogenic |
| NM_000243.3(MEFV):c.401C>A (p.Pro134Gln) |
single nucleotide variant |
not provided [RCV000427228] |
Chr16:3254667 [GRCh38]
Chr16:3304667 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1459G>C (p.Val487Leu) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002263676]|Familial Mediterranean fever [RCV000531412]|Familial Mediterranean fever, autosomal dominant [RCV003150813]|not provided [RCV001712195]|not specified [RCV000439116] |
Chr16:3247144 [GRCh38]
Chr16:3297144 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.489G>T (p.Glu163Asp) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126739]|Familial Mediterranean fever [RCV001835805]|Familial Mediterranean fever [RCV002506080]|Familial Mediterranean fever, autosomal dominant [RCV003126738]|not provided [RCV000432274] |
Chr16:3254579 [GRCh38]
Chr16:3304579 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.2292G>T (p.Gly764=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002263677]|Familial Mediterranean fever [RCV000989470]|not provided [RCV000429125]|not specified [RCV001000190] |
Chr16:3243195 [GRCh38]
Chr16:3293195 [GRCh37]
Chr16:16p13.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 |
copy number gain |
See cases [RCV000445663] |
Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3 |
pathogenic |
| NM_000243.3(MEFV):c.2330_2331del (p.Gly777fs) |
deletion |
Familial Mediterranean fever [RCV000554423] |
Chr16:3243156..3243157 [GRCh38]
Chr16:3293156..3293157 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.611G>A (p.Arg204His) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126650]|Familial Mediterranean fever [RCV000491523]|Familial Mediterranean fever, autosomal dominant [RCV003126649]|not provided [RCV003480573]|not specified [RCV001804980] |
Chr16:3254457 [GRCh38]
Chr16:3304457 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.786T>C (p.Thr262=) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126781]|Familial Mediterranean fever [RCV001410018]|Familial Mediterranean fever, autosomal dominant [RCV003126780]|not provided [RCV000505968] |
Chr16:3254282 [GRCh38]
Chr16:3304282 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.758C>A (p.Ala253Glu) |
single nucleotide variant |
not specified [RCV000506330] |
Chr16:3254310 [GRCh38]
Chr16:3304310 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1356+31G>T |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126777]|Familial Mediterranean fever [RCV003126775]|Familial Mediterranean fever, autosomal dominant [RCV003126776]|not provided [RCV001584224] |
Chr16:3248878 [GRCh38]
Chr16:3298878 [GRCh37]
Chr16:16p13.3 |
benign|likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1759+11C>T |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126783]|Familial Mediterranean fever [RCV002056907]|Familial Mediterranean fever [RCV002506235]|Familial Mediterranean fever, autosomal dominant [RCV003126782]|not specified [RCV000506579] |
Chr16:3244243 [GRCh38]
Chr16:3294243 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.1610+21G>A |
single nucleotide variant |
not specified [RCV000506604] |
Chr16:3246504 [GRCh38]
Chr16:3296504 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1588-69G>A |
single nucleotide variant |
Familial Mediterranean fever [RCV001510535]|Familial Mediterranean fever, autosomal dominant [RCV001533513]|not provided [RCV000870512]|not specified [RCV000506774] |
Chr16:3246616 [GRCh38]
Chr16:3296616 [GRCh37]
Chr16:16p13.3 |
benign |
| NM_000243.3(MEFV):c.1610+8G>A |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126779]|Familial Mediterranean fever [RCV001429606]|Familial Mediterranean fever [RCV002496968]|Familial Mediterranean fever, autosomal dominant [RCV003126778]|MEFV-related condition [RCV003942663]|not provided [RCV001810995] |
Chr16:3246517 [GRCh38]
Chr16:3296517 [GRCh37]
Chr16:16p13.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.1458C>T (p.Asp486=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002263714]|Familial Mediterranean fever [RCV000908449]|Inborn genetic diseases [RCV002395226]|not specified [RCV000507087] |
Chr16:3247145 [GRCh38]
Chr16:3297145 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1461G>T (p.Val487=) |
single nucleotide variant |
not specified [RCV000507376] |
Chr16:3247142 [GRCh38]
Chr16:3297142 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1610+96C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV001533512]|Familial Mediterranean fever, autosomal dominant [RCV001533511]|not provided [RCV001637055]|not specified [RCV000507688] |
Chr16:3246429 [GRCh38]
Chr16:3296429 [GRCh37]
Chr16:16p13.3 |
benign |
| NM_000243.3(MEFV):c.1760-30T>A |
single nucleotide variant |
Familial Mediterranean fever [RCV001533508]|Familial Mediterranean fever, autosomal dominant [RCV001533507]|not provided [RCV001355109]|not specified [RCV003392340] |
Chr16:3243922 [GRCh38]
Chr16:3293922 [GRCh37]
Chr16:16p13.3 |
benign|uncertain significance |
| NM_000243.3(MEFV):c.332G>A (p.Gly111Glu) |
single nucleotide variant |
Behcet disease [RCV000495851] |
Chr16:3254736 [GRCh38]
Chr16:3304736 [GRCh37]
Chr16:16p13.3 |
pathogenic |
| NM_000243.3(MEFV):c.-614C>G |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126808]|Familial Mediterranean fever [RCV000558557]|Familial Mediterranean fever [RCV002506301]|Familial Mediterranean fever, autosomal dominant [RCV003126807] |
Chr16:3257201 [GRCh38]
Chr16:3307201 [GRCh37]
Chr16:16p13.3 |
benign |
| NM_000243.3(MEFV):c.630G>T (p.Ala210=) |
single nucleotide variant |
Familial Mediterranean fever [RCV000536870] |
Chr16:3254438 [GRCh38]
Chr16:3304438 [GRCh37]
Chr16:16p13.3 |
likely benign |
| GRCh37/hg19 16p13.3(chr16:2606710-3382546)x3 |
copy number gain |
See cases [RCV000512346] |
Chr16:2606710..3382546 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.277+6C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV000892020]|Familial Mediterranean fever [RCV001280971]|Familial Mediterranean fever [RCV003224349]|MEFV-related condition [RCV003965280]|not provided [RCV003736853]|not specified [RCV000606307] |
Chr16:3256305 [GRCh38]
Chr16:3306305 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 |
copy number gain |
See cases [RCV000511360] |
Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2 |
pathogenic |
| GRCh37/hg19 16p13.3(chr16:2891391-4440397)x3 |
copy number gain |
See cases [RCV000511502] |
Chr16:2891391..4440397 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1 |
copy number loss |
See cases [RCV000511703] |
Chr16:3146027..6362229 [GRCh37]
Chr16:16p13.3 |
pathogenic |
| GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 |
copy number gain |
See cases [RCV000512194] |
Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3 |
pathogenic |
| NM_000243.3(MEFV):c.1092G>A (p.Pro364=) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126886]|Familial Mediterranean fever [RCV001083401]|Familial Mediterranean fever [RCV002499046]|Familial Mediterranean fever, autosomal dominant [RCV003126885]|not provided [RCV000756332] |
Chr16:3249599 [GRCh38]
Chr16:3299599 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.378G>A (p.Gly126=) |
single nucleotide variant |
Familial Mediterranean fever [RCV000632799] |
Chr16:3254690 [GRCh38]
Chr16:3304690 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1092G>T (p.Pro364=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002263850]|Familial Mediterranean fever [RCV000757452]|Inborn genetic diseases [RCV002448947]|not provided [RCV001619816] |
Chr16:3249599 [GRCh38]
Chr16:3299599 [GRCh37]
Chr16:16p13.3 |
benign|likely benign|uncertain significance |
| NM_000243.3(MEFV):c.462G>A (p.Ser154=) |
single nucleotide variant |
Familial Mediterranean fever [RCV000632801] |
Chr16:3254606 [GRCh38]
Chr16:3304606 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1587+5G>A |
single nucleotide variant |
Familial Mediterranean fever [RCV000632790] |
Chr16:3247011 [GRCh38]
Chr16:3297011 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.539C>T (p.Pro180Leu) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126884]|Familial Mediterranean fever [RCV000632793]|Familial Mediterranean fever, autosomal dominant [RCV003126883]|not specified [RCV002469226] |
Chr16:3254529 [GRCh38]
Chr16:3304529 [GRCh37]
Chr16:16p13.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 |
copy number gain |
See cases [RCV000512138] |
Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| NM_000243.3(MEFV):c.2163C>T (p.Phe721=) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126806]|Autoinflammatory syndrome [RCV002263740]|Familial Mediterranean fever [RCV001083427]|Familial Mediterranean fever, autosomal dominant [RCV003126805]|Inborn genetic diseases [RCV002431547]|not provided [RCV000588308] |
Chr16:3243324 [GRCh38]
Chr16:3293324 [GRCh37]
Chr16:16p13.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.*9C>T |
single nucleotide variant |
Autoinflammatory syndrome [RCV002263721]|Familial Mediterranean fever [RCV001079215]|MEFV-related condition [RCV003925523]|not provided [RCV000514937]|not specified [RCV000722126] |
Chr16:3243132 [GRCh38]
Chr16:3293132 [GRCh37]
Chr16:16p13.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.1587+18C>T |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126785]|Familial Mediterranean fever [RCV001519190]|Familial Mediterranean fever, autosomal dominant [RCV003126784]|not provided [RCV000514976] |
Chr16:3246998 [GRCh38]
Chr16:3296998 [GRCh37]
Chr16:16p13.3 |
benign|likely benign |
| GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) |
copy number gain |
See cases [RCV000511296] |
Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| NM_000243.3(MEFV):c.1759+18G>A |
single nucleotide variant |
not specified [RCV000616388] |
Chr16:3244236 [GRCh38]
Chr16:3294236 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1260+18G>A |
single nucleotide variant |
Familial Mediterranean fever [RCV003603065]|not specified [RCV000616818] |
Chr16:3249413 [GRCh38]
Chr16:3299413 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.116G>A (p.Arg39Lys) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126831]|Familial Mediterranean fever [RCV001045327]|Familial Mediterranean fever [RCV002476272]|Familial Mediterranean fever, autosomal dominant [RCV003126830]|not provided [RCV000586069] |
Chr16:3256472 [GRCh38]
Chr16:3306472 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 |
copy number gain |
See cases [RCV000510698] |
Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2 |
pathogenic |
| NM_000243.3(MEFV):c.819G>A (p.Ser273=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003605668]|not specified [RCV000611169] |
Chr16:3254249 [GRCh38]
Chr16:3304249 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1780C>T (p.Gln594Ter) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126882]|Familial Mediterranean fever [RCV000632791]|Familial Mediterranean fever [RCV002492960]|Familial Mediterranean fever, autosomal dominant [RCV003126881]|not provided [RCV001815355] |
Chr16:3243872 [GRCh38]
Chr16:3293872 [GRCh37]
Chr16:16p13.3 |
likely pathogenic|likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1899G>T (p.Pro633=) |
single nucleotide variant |
Familial Mediterranean fever [RCV000632796] |
Chr16:3243588 [GRCh38]
Chr16:3293588 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.282T>G (p.Tyr94Ter) |
single nucleotide variant |
not provided [RCV000627309] |
Chr16:3254786 [GRCh38]
Chr16:3304786 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| GRCh37/hg19 16p13.3(chr16:3265427-3731182)x3 |
copy number gain |
not provided [RCV000683748] |
Chr16:3265427..3731182 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3 |
copy number gain |
not provided [RCV000683747] |
Chr16:2651354..4460114 [GRCh37]
Chr16:16p13.3 |
pathogenic |
| NM_000243.3(MEFV):c.553G>A (p.Gly185Arg) |
single nucleotide variant |
Familial Mediterranean fever [RCV000689990]|not provided [RCV003480772] |
Chr16:3254515 [GRCh38]
Chr16:3304515 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1455G>A (p.Glu485=) |
single nucleotide variant |
Familial Mediterranean fever [RCV000685307] |
Chr16:3247148 [GRCh38]
Chr16:3297148 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1117C>T (p.Pro373Ser) |
single nucleotide variant |
Familial Mediterranean fever [RCV000685317] |
Chr16:3249574 [GRCh38]
Chr16:3299574 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.277+1G>T |
single nucleotide variant |
Familial Mediterranean fever [RCV000689070] |
Chr16:3256310 [GRCh38]
Chr16:3306310 [GRCh37]
Chr16:16p13.3 |
likely pathogenic|uncertain significance |
| NM_000243.3(MEFV):c.340A>G (p.Lys114Glu) |
single nucleotide variant |
Familial Mediterranean fever [RCV000694177] |
Chr16:3254728 [GRCh38]
Chr16:3304728 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.766A>G (p.Asn256Asp) |
single nucleotide variant |
Familial Mediterranean fever [RCV000698862] |
Chr16:3254302 [GRCh38]
Chr16:3304302 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2044_2045del (p.Leu682fs) |
microsatellite |
Acute febrile neutrophilic dermatosis [RCV003126912]|Familial Mediterranean fever [RCV000700800]|Familial Mediterranean fever [RCV002477610]|Familial Mediterranean fever, autosomal dominant [RCV003126911] |
Chr16:3243442..3243443 [GRCh38]
Chr16:3293442..3293443 [GRCh37]
Chr16:16p13.3 |
likely pathogenic|likely benign|uncertain significance |
| NM_000243.3(MEFV):c.311C>G (p.Ser104Cys) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126914]|Familial Mediterranean fever [RCV000701319]|Familial Mediterranean fever [RCV002493230]|Familial Mediterranean fever, autosomal dominant [RCV003126913] |
Chr16:3254757 [GRCh38]
Chr16:3304757 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1356+270C>T |
single nucleotide variant |
not provided [RCV001546909] |
Chr16:3248639 [GRCh38]
Chr16:3298639 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.414_415delinsGT (p.Ala139Ser) |
indel |
Familial Mediterranean fever [RCV002535033]|not provided [RCV000722509] |
Chr16:3254653..3254654 [GRCh38]
Chr16:3304653..3304654 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1469T>C (p.Met490Thr) |
single nucleotide variant |
Familial Mediterranean fever [RCV001578713] |
Chr16:3247134 [GRCh38]
Chr16:3297134 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2333A>G (p.Gln778Arg) |
single nucleotide variant |
Familial Mediterranean fever [RCV001578715] |
Chr16:3243154 [GRCh38]
Chr16:3293154 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1611-33G>A |
single nucleotide variant |
not specified [RCV001001970] |
Chr16:3244621 [GRCh38]
Chr16:3294621 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1243G>C (p.Val415Leu) |
single nucleotide variant |
not provided [RCV001532319] |
Chr16:3249448 [GRCh38]
Chr16:3299448 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.342G>A (p.Lys114=) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127755]|Familial Mediterranean fever [RCV001835362]|Familial Mediterranean fever [RCV002499494]|Familial Mediterranean fever, autosomal dominant [RCV003127754]|not provided [RCV001812486] |
Chr16:3254726 [GRCh38]
Chr16:3304726 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.1356+44A>G |
single nucleotide variant |
Familial Mediterranean fever [RCV001533720]|Familial Mediterranean fever, autosomal dominant [RCV001533719]|not provided [RCV001675987]|not specified [RCV003393947] |
Chr16:3248865 [GRCh38]
Chr16:3298865 [GRCh37]
Chr16:16p13.3 |
benign |
| NM_000243.3(MEFV):c.444G>C (p.Glu148Asp) |
single nucleotide variant |
not provided [RCV001545138] |
Chr16:3254624 [GRCh38]
Chr16:3304624 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2007C>T (p.Ala669=) |
single nucleotide variant |
not provided [RCV001692865] |
Chr16:3243480 [GRCh38]
Chr16:3293480 [GRCh37]
Chr16:16p13.3 |
benign |
| NM_000243.3(MEFV):c.1760-8C>T |
single nucleotide variant |
not provided [RCV000762180] |
Chr16:3243900 [GRCh38]
Chr16:3293900 [GRCh37]
Chr16:16p13.3 |
likely benign |
| GRCh37/hg19 16p13.3(chr16:3100528-3305985)x3 |
copy number gain |
not provided [RCV000762721] |
Chr16:3100528..3305985 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1610+186A>G |
single nucleotide variant |
not provided [RCV001667152] |
Chr16:3246339 [GRCh38]
Chr16:3296339 [GRCh37]
Chr16:16p13.3 |
benign |
| NM_000243.3(MEFV):c.1783G>A (p.Ala595Thr) |
single nucleotide variant |
Familial Mediterranean fever [RCV001062969] |
Chr16:3243869 [GRCh38]
Chr16:3293869 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.209C>G (p.Thr70Ser) |
single nucleotide variant |
Familial Mediterranean fever [RCV001063781] |
Chr16:3256379 [GRCh38]
Chr16:3306379 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2065T>C (p.Trp689Arg) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127615]|Familial Mediterranean fever [RCV001065311]|Familial Mediterranean fever [RCV002482093]|Familial Mediterranean fever, autosomal dominant [RCV003127614] |
Chr16:3243422 [GRCh38]
Chr16:3293422 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.*579C>A |
single nucleotide variant |
Familial Mediterranean fever [RCV001116232] |
Chr16:3242562 [GRCh38]
Chr16:3292562 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2150G>T (p.Arg717Leu) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127564]|Familial Mediterranean fever [RCV000989472]|Familial Mediterranean fever [RCV002479155]|Familial Mediterranean fever, autosomal dominant [RCV003127563]|not specified [RCV001002516] |
Chr16:3243337 [GRCh38]
Chr16:3293337 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1463G>A (p.Gly488Asp) |
single nucleotide variant |
Familial Mediterranean fever [RCV000989482] |
Chr16:3247140 [GRCh38]
Chr16:3297140 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1115T>C (p.Leu372Pro) |
single nucleotide variant |
Familial Mediterranean fever [RCV000989484] |
Chr16:3249576 [GRCh38]
Chr16:3299576 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1761T>C (p.Val587=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001462692] |
Chr16:3243891 [GRCh38]
Chr16:3293891 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.277+7G>C |
single nucleotide variant |
not provided [RCV000896107] |
Chr16:3256304 [GRCh38]
Chr16:3306304 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.972C>T (p.Asp324=) |
single nucleotide variant |
Familial Mediterranean fever [RCV000904793] |
Chr16:3249719 [GRCh38]
Chr16:3299719 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.48G>A (p.Leu16=) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127546]|Familial Mediterranean fever [RCV000914758]|Familial Mediterranean fever [RCV002505350]|Familial Mediterranean fever, autosomal dominant [RCV003127545]|Inborn genetic diseases [RCV003307683]|not provided [RCV001655645] |
Chr16:3256540 [GRCh38]
Chr16:3306540 [GRCh37]
Chr16:16p13.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.1763C>T (p.Pro588Leu) |
single nucleotide variant |
Familial Mediterranean fever [RCV000915002] |
Chr16:3243889 [GRCh38]
Chr16:3293889 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1899G>A (p.Pro633=) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127560]|Familial Mediterranean fever [RCV000977151]|Familial Mediterranean fever [RCV002503116]|Familial Mediterranean fever, autosomal dominant [RCV003127559] |
Chr16:3243588 [GRCh38]
Chr16:3293588 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264090]|Familial Mediterranean fever [RCV000916352]|MEFV-related condition [RCV003958383]|not provided [RCV001310310] |
Chr16:3243338 [GRCh38]
Chr16:3293338 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.582A>G (p.Leu194=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003497901] |
Chr16:3254486 [GRCh38]
Chr16:3304486 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.331G>A (p.Gly111Arg) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126926]|Familial Mediterranean fever [RCV001201760]|Familial Mediterranean fever [RCV002477737]|Familial Mediterranean fever, autosomal dominant [RCV003126925]|MEFV-related condition [RCV003892683]|not provided [RCV000756333] |
Chr16:3254737 [GRCh38]
Chr16:3304737 [GRCh37]
Chr16:16p13.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.588G>C (p.Gly196=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001423913] |
Chr16:3254480 [GRCh38]
Chr16:3304480 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.513G>T (p.Ala171=) |
single nucleotide variant |
Familial Mediterranean fever [RCV000924971] |
Chr16:3254555 [GRCh38]
Chr16:3304555 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.911-4C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV003497907] |
Chr16:3249784 [GRCh38]
Chr16:3299784 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.651G>T (p.Ala217=) |
single nucleotide variant |
Familial Mediterranean fever [RCV000983576] |
Chr16:3254417 [GRCh38]
Chr16:3304417 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.405C>T (p.Tyr135=) |
single nucleotide variant |
Familial Mediterranean fever [RCV000930224] |
Chr16:3254663 [GRCh38]
Chr16:3304663 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2310G>A (p.Leu770=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003497908] |
Chr16:3243177 [GRCh38]
Chr16:3293177 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.456G>A (p.Gly152=) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127548]|Familial Mediterranean fever [RCV001417548]|Familial Mediterranean fever [RCV002502861]|Familial Mediterranean fever, autosomal dominant [RCV003127547] |
Chr16:3254612 [GRCh38]
Chr16:3304612 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.1610+10G>T |
single nucleotide variant |
Familial Mediterranean fever [RCV000875053]|not provided [RCV001692309]|not specified [RCV001193205] |
Chr16:3246515 [GRCh38]
Chr16:3296515 [GRCh37]
Chr16:16p13.3 |
benign|uncertain significance |
| NM_000243.3(MEFV):c.1344A>C (p.Ala448=) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127550]|Familial Mediterranean fever [RCV000939111]|Familial Mediterranean fever [RCV002489258]|Familial Mediterranean fever, autosomal dominant [RCV003127549] |
Chr16:3248921 [GRCh38]
Chr16:3298921 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.231C>A (p.Ile77=) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127552]|Familial Mediterranean fever [RCV000939112]|Familial Mediterranean fever [RCV002502875]|Familial Mediterranean fever, autosomal dominant [RCV003127551]|MEFV-related condition [RCV003970615]|not provided [RCV001655646] |
Chr16:3256357 [GRCh38]
Chr16:3306357 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.1887G>C (p.Leu629=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001409996] |
Chr16:3243600 [GRCh38]
Chr16:3293600 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.344C>G (p.Pro115Arg) |
single nucleotide variant |
Familial Mediterranean fever [RCV000941478]|not provided [RCV001811542] |
Chr16:3254724 [GRCh38]
Chr16:3304724 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.1759+12G>A |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127750]|Familial Mediterranean fever [RCV002499490]|Familial Mediterranean fever [RCV003127748]|Familial Mediterranean fever, autosomal dominant [RCV003127749]|not specified [RCV001280658] |
Chr16:3244242 [GRCh38]
Chr16:3294242 [GRCh37]
Chr16:16p13.3 |
benign|likely benign|uncertain significance |
| NM_000243.3(MEFV):c.586G>C (p.Gly196Arg) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127472]|Familial Mediterranean fever [RCV000807223]|Familial Mediterranean fever [RCV002487732]|Familial Mediterranean fever, autosomal dominant [RCV003127471] |
Chr16:3254482 [GRCh38]
Chr16:3304482 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.2253C>G (p.Pro751=) |
single nucleotide variant |
not specified [RCV000780405] |
Chr16:3243234 [GRCh38]
Chr16:3293234 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1759+7C>T |
single nucleotide variant |
Autoinflammatory syndrome [RCV002263974]|Familial Mediterranean fever [RCV001825529]|not specified [RCV000780409] |
Chr16:3244247 [GRCh38]
Chr16:3294247 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1131C>T (p.Arg377=) |
single nucleotide variant |
Familial Mediterranean fever [RCV000768023]|Familial Mediterranean fever [RCV003224417] |
Chr16:3249560 [GRCh38]
Chr16:3299560 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.239G>A (p.Arg80His) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126931]|Familial Mediterranean fever [RCV001273730]|Familial Mediterranean fever [RCV002487611]|Familial Mediterranean fever, autosomal dominant [RCV003126930]|not provided [RCV001561342]|not specified [RCV000781524] |
Chr16:3256349 [GRCh38]
Chr16:3306349 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.564C>G (p.Pro188=) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126933]|Familial Mediterranean fever [RCV001501166]|Familial Mediterranean fever, autosomal dominant [RCV003126932]|not specified [RCV000781526] |
Chr16:3254504 [GRCh38]
Chr16:3304504 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.910+4A>G |
single nucleotide variant |
not specified [RCV000781530] |
Chr16:3254154 [GRCh38]
Chr16:3304154 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126935]|Autoinflammatory syndrome [RCV002263975]|Familial Mediterranean fever [RCV000792803]|Familial Mediterranean fever, autosomal dominant [RCV003126934]|not provided [RCV001555989]|not specified [RCV000781531] |
Chr16:3244556 [GRCh38]
Chr16:3294556 [GRCh37]
Chr16:16p13.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.787C>G (p.Leu263Val) |
single nucleotide variant |
not specified [RCV000781532] |
Chr16:3254281 [GRCh38]
Chr16:3304281 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126929]|Autoinflammatory syndrome [RCV002263973]|Familial Mediterranean fever [RCV001825528]|Familial Mediterranean fever, autosomal dominant [RCV003126928]|not specified [RCV000780408] |
Chr16:3247235 [GRCh38]
Chr16:3297235 [GRCh37]
Chr16:16p13.3 |
benign|likely benign|uncertain significance |
| NM_000243.3(MEFV):c.809A>G (p.Asn270Ser) |
single nucleotide variant |
not specified [RCV000781528] |
Chr16:3254259 [GRCh38]
Chr16:3304259 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.250G>A (p.Glu84Lys) |
single nucleotide variant |
Familial Mediterranean fever [RCV000779184]|Familial Mediterranean fever, autosomal dominant [RCV003465710]|not specified [RCV001002344] |
Chr16:3256338 [GRCh38]
Chr16:3306338 [GRCh37]
Chr16:16p13.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.884dup (p.Gly296fs) |
duplication |
Familial Mediterranean fever [RCV000806158] |
Chr16:3254183..3254184 [GRCh38]
Chr16:3304183..3304184 [GRCh37]
Chr16:16p13.3 |
pathogenic|uncertain significance |
| NM_000243.3(MEFV):c.416C>A (p.Ala139Asp) |
single nucleotide variant |
Familial Mediterranean fever [RCV000932960]|Familial Mediterranean fever [RCV002505387]|not specified [RCV002307644] |
Chr16:3254652 [GRCh38]
Chr16:3304652 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.911-9T>C |
single nucleotide variant |
Familial Mediterranean fever [RCV001470225] |
Chr16:3249789 [GRCh38]
Chr16:3299789 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.411C>T (p.Gly137=) |
single nucleotide variant |
Familial Mediterranean fever [RCV000928708] |
Chr16:3254657 [GRCh38]
Chr16:3304657 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.807G>C (p.Ala269=) |
single nucleotide variant |
Familial Mediterranean fever [RCV000930858] |
Chr16:3254261 [GRCh38]
Chr16:3304261 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.369C>T (p.His123=) |
single nucleotide variant |
not provided [RCV000931547] |
Chr16:3254699 [GRCh38]
Chr16:3304699 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.911-12G>A |
single nucleotide variant |
Familial Mediterranean fever [RCV002067369]|not provided [RCV000828031]|not specified [RCV000780407] |
Chr16:3249792 [GRCh38]
Chr16:3299792 [GRCh37]
Chr16:16p13.3 |
benign|likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1587+33C>G |
single nucleotide variant |
Familial Mediterranean fever [RCV000084150]|Familial Mediterranean fever, autosomal dominant [RCV001274312]|not provided [RCV000727205] |
Chr16:3246983 [GRCh38]
Chr16:3296983 [GRCh37]
Chr16:16p13.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000243.3(MEFV):c.464G>C (p.Arg155Thr) |
single nucleotide variant |
Familial Mediterranean fever [RCV000119309]|not provided [RCV003456363] |
Chr16:3254604 [GRCh38]
Chr16:3304604 [GRCh37]
Chr16:16p13.3 |
uncertain significance|not provided |
| NM_000243.3(MEFV):c.1012G>C (p.Val338Leu) |
single nucleotide variant |
Familial Mediterranean fever [RCV000119310] |
Chr16:3249679 [GRCh38]
Chr16:3299679 [GRCh37]
Chr16:16p13.3 |
not provided |
| NM_000243.3(MEFV):c.818C>T (p.Ser273Leu) |
single nucleotide variant |
Familial Mediterranean fever [RCV000119311]|not provided [RCV000523393] |
Chr16:3254250 [GRCh38]
Chr16:3304250 [GRCh37]
Chr16:16p13.3 |
uncertain significance|not provided |
| NM_000243.3(MEFV):c.1082G>C (p.Arg361Thr) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126541]|Familial Mediterranean fever [RCV000148029]|Familial Mediterranean fever [RCV002498677]|Familial Mediterranean fever, autosomal dominant [RCV003126540] |
Chr16:3249609 [GRCh38]
Chr16:3299609 [GRCh37]
Chr16:16p13.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000243.3(MEFV):c.2053G>A (p.Glu685Lys) |
single nucleotide variant |
Familial Mediterranean fever [RCV000148035] |
Chr16:3243434 [GRCh38]
Chr16:3293434 [GRCh37]
Chr16:16p13.3 |
not provided |
| NM_000243.3(MEFV):c.369C>A (p.His123Gln) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126543]|Familial Mediterranean fever [RCV000148289]|Familial Mediterranean fever, autosomal dominant [RCV003126542]|Inborn genetic diseases [RCV002515994]|not provided [RCV000589662] |
Chr16:3254699 [GRCh38]
Chr16:3304699 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance|not provided |
| GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 |
copy number gain |
See cases [RCV000133780] |
Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13 |
pathogenic |
| GRCh37/hg19 16p13.3(chr16:2980929-3398023)x3 |
copy number gain |
See cases [RCV000446345] |
Chr16:2980929..3398023 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 |
copy number gain |
See cases [RCV000446684] |
Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| maternal UPD(16p) |
complex |
Hemimegalencephaly [RCV000494707] |
Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2 |
pathogenic |
| NM_000243.3(MEFV):c.1504G>A (p.Val502Ile) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126880]|Familial Mediterranean fever [RCV000632788]|Familial Mediterranean fever [RCV002507067]|Familial Mediterranean fever, autosomal dominant [RCV003126879] |
Chr16:3247099 [GRCh38]
Chr16:3297099 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1129C>T (p.Arg377Cys) |
single nucleotide variant |
Familial Mediterranean fever [RCV000632794] |
Chr16:3249562 [GRCh38]
Chr16:3299562 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 |
copy number gain |
not provided [RCV000683743] |
Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13 |
pathogenic |
| GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3 |
copy number gain |
not provided [RCV000683745] |
Chr16:1505184..4415346 [GRCh37]
Chr16:16p13.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 |
copy number gain |
not provided [RCV000738918] |
Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 |
copy number gain |
not provided [RCV000738915] |
Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 |
copy number gain |
not provided [RCV000738917] |
Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| NM_000243.3(MEFV):c.679A>G (p.Arg227Gly) |
single nucleotide variant |
not specified [RCV000781525] |
Chr16:3254389 [GRCh38]
Chr16:3304389 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.277+16C>A |
single nucleotide variant |
not specified [RCV000781529] |
Chr16:3256295 [GRCh38]
Chr16:3306295 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| GRCh37/hg19 16p13.3(chr16:109978-4316797) |
copy number gain |
Chromosome 16p13.3 duplication syndrome [RCV000767731] |
Chr16:109978..4316797 [GRCh37]
Chr16:16p13.3 |
pathogenic |
| NM_000243.3(MEFV):c.2074_2076delinsGTG (p.Ile692Val) |
indel |
Familial Mediterranean fever [RCV000797275] |
Chr16:3243411..3243413 [GRCh38]
Chr16:3293411..3293413 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1151T>C (p.Leu384Pro) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127477]|Familial Mediterranean fever [RCV000820957]|Familial Mediterranean fever [RCV001281042]|Familial Mediterranean fever [RCV002487836]|Familial Mediterranean fever, autosomal dominant [RCV003127476] |
Chr16:3249540 [GRCh38]
Chr16:3299540 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.2:c.911-12G>A |
single nucleotide variant |
not provided [RCV000828031] |
Chr16:3299792 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.65del (p.Glu22fs) |
deletion |
Familial Mediterranean fever [RCV000797888] |
Chr16:3256523 [GRCh38]
Chr16:3306523 [GRCh37]
Chr16:16p13.3 |
pathogenic|uncertain significance |
| NM_000243.3(MEFV):c.836C>T (p.Ala279Val) |
single nucleotide variant |
Familial Mediterranean fever [RCV000801290] |
Chr16:3254232 [GRCh38]
Chr16:3304232 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1297C>G (p.Leu433Val) |
single nucleotide variant |
Familial Mediterranean fever [RCV000821351] |
Chr16:3248968 [GRCh38]
Chr16:3298968 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1770G>A (p.Leu590=) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127484]|Familial Mediterranean fever [RCV001471489]|Familial Mediterranean fever, autosomal dominant [RCV003127483]|not provided [RCV000828867] |
Chr16:3243882 [GRCh38]
Chr16:3293882 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.575G>C (p.Arg192Thr) |
single nucleotide variant |
Familial Mediterranean fever [RCV000798357] |
Chr16:3254493 [GRCh38]
Chr16:3304493 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1735C>T (p.Arg579Cys) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126938]|Autoinflammatory syndrome [RCV002263985]|Familial Mediterranean fever [RCV000795051]|Familial Mediterranean fever, autosomal dominant [RCV003126937]|not provided [RCV001776003] |
Chr16:3244278 [GRCh38]
Chr16:3294278 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1356+267C>T |
single nucleotide variant |
not provided [RCV000826603]|not specified [RCV003392630] |
Chr16:3248642 [GRCh38]
Chr16:3298642 [GRCh37]
Chr16:16p13.3 |
benign |
| NM_000243.3(MEFV):c.2081T>A (p.Met694Lys) |
single nucleotide variant |
Familial Mediterranean fever [RCV000989475] |
Chr16:3243406 [GRCh38]
Chr16:3293406 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.739A>G (p.Ile247Val) |
single nucleotide variant |
Familial Mediterranean fever [RCV000989485] |
Chr16:3254329 [GRCh38]
Chr16:3304329 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.682C>T (p.Pro228Ser) |
single nucleotide variant |
Familial Mediterranean fever [RCV000802293] |
Chr16:3254386 [GRCh38]
Chr16:3304386 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2327G>C (p.Gly776Ala) |
single nucleotide variant |
Familial Mediterranean fever [RCV000800729] |
Chr16:3243160 [GRCh38]
Chr16:3293160 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.963C>A (p.Asp321Glu) |
single nucleotide variant |
Familial Mediterranean fever [RCV000805868] |
Chr16:3249728 [GRCh38]
Chr16:3299728 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.2:c.1587+33C>G |
single nucleotide variant |
not provided [RCV000833674] |
Chr16:3296983 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1611-134G>C |
single nucleotide variant |
not provided [RCV000837786] |
Chr16:3244722 [GRCh38]
Chr16:3294722 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.2:c.-330G>A |
single nucleotide variant |
not provided [RCV000834991] |
Chr16:3306917 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.536G>A (p.Ser179Asn) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127479]|Familial Mediterranean fever [RCV000823143]|Familial Mediterranean fever, autosomal dominant [RCV003127478]|not provided [RCV001507334] |
Chr16:3254532 [GRCh38]
Chr16:3304532 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1532C>T (p.Ala511Val) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126940]|Familial Mediterranean fever [RCV000801307]|Familial Mediterranean fever [RCV002501072]|Familial Mediterranean fever, autosomal dominant [RCV003126939]|not specified [RCV001193207] |
Chr16:3247071 [GRCh38]
Chr16:3297071 [GRCh37]
Chr16:16p13.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.1611-90C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV001533510]|Familial Mediterranean fever, autosomal dominant [RCV001533509]|not provided [RCV000836404]|not specified [RCV003489930] |
Chr16:3244678 [GRCh38]
Chr16:3294678 [GRCh37]
Chr16:16p13.3 |
benign |
| NM_000243.3(MEFV):c.1611-343T>G |
single nucleotide variant |
not provided [RCV000826605] |
Chr16:3244931 [GRCh38]
Chr16:3294931 [GRCh37]
Chr16:16p13.3 |
benign |
| NM_000243.3(MEFV):c.*394C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV001117674] |
Chr16:3242747 [GRCh38]
Chr16:3292747 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.*190G>C |
single nucleotide variant |
Familial Mediterranean fever [RCV001117675]|not provided [RCV001564541] |
Chr16:3242951 [GRCh38]
Chr16:3292951 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.585G>T (p.Glu195Asp) |
single nucleotide variant |
Familial Mediterranean fever [RCV001053067] |
Chr16:3254483 [GRCh38]
Chr16:3304483 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2150G>A (p.Arg717His) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127566]|Familial Mediterranean fever [RCV000989473]|Familial Mediterranean fever [RCV002488080]|Familial Mediterranean fever, autosomal dominant [RCV003127565] |
Chr16:3243337 [GRCh38]
Chr16:3293337 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.2147A>T (p.Lys716Met) |
single nucleotide variant |
Familial Mediterranean fever [RCV000989474] |
Chr16:3243340 [GRCh38]
Chr16:3293340 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.589G>C (p.Gly197Arg) |
single nucleotide variant |
Familial Mediterranean fever [RCV000989486]|not specified [RCV003155334] |
Chr16:3254479 [GRCh38]
Chr16:3304479 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.383A>T (p.Glu128Val) |
single nucleotide variant |
Familial Mediterranean fever [RCV000989487] |
Chr16:3254685 [GRCh38]
Chr16:3304685 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.414A>T (p.Gly138=) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127486]|Familial Mediterranean fever [RCV001088841]|Familial Mediterranean fever [RCV002501163]|Familial Mediterranean fever, autosomal dominant [RCV003127485]|not provided [RCV000829179] |
Chr16:3254654 [GRCh38]
Chr16:3304654 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.*845C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV001119156] |
Chr16:3242296 [GRCh38]
Chr16:3292296 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1357-306del |
deletion |
not provided [RCV000826604] |
Chr16:3247552 [GRCh38]
Chr16:3297552 [GRCh37]
Chr16:16p13.3 |
benign |
| NM_000243.3(MEFV):c.490A>T (p.Lys164Ter) |
single nucleotide variant |
Familial Mediterranean fever [RCV000823110] |
Chr16:3254578 [GRCh38]
Chr16:3304578 [GRCh37]
Chr16:16p13.3 |
pathogenic|uncertain significance |
| NM_000243.3(MEFV):c.2123G>A (p.Arg708His) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127470]|Familial Mediterranean fever [RCV000804253]|Familial Mediterranean fever [RCV002487716]|Familial Mediterranean fever, autosomal dominant [RCV001274311]|not specified [RCV003479222] |
Chr16:3243364 [GRCh38]
Chr16:3293364 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1048C>T (p.Pro350Ser) |
single nucleotide variant |
Familial Mediterranean fever [RCV000820793] |
Chr16:3249643 [GRCh38]
Chr16:3299643 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1727-16C>G |
single nucleotide variant |
Familial Mediterranean fever [RCV002538334]|not provided [RCV000842627] |
Chr16:3244302 [GRCh38]
Chr16:3294302 [GRCh37]
Chr16:16p13.3 |
likely benign |
| GRCh37/hg19 16p13.3(chr16:3112024-3738078)x3 |
copy number gain |
not provided [RCV000849936] |
Chr16:3112024..3738078 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.224G>A (p.Arg75Gln) |
single nucleotide variant |
Familial Mediterranean fever [RCV001066787]|not provided [RCV003405286] |
Chr16:3256364 [GRCh38]
Chr16:3306364 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.*690G>T |
single nucleotide variant |
Familial Mediterranean fever [RCV001116231] |
Chr16:3242451 [GRCh38]
Chr16:3292451 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1681C>T (p.His561Tyr) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127623]|Familial Mediterranean fever [RCV001071930]|Familial Mediterranean fever [RCV002489718]|Familial Mediterranean fever, autosomal dominant [RCV003127622] |
Chr16:3244518 [GRCh38]
Chr16:3294518 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.*1008A>G |
single nucleotide variant |
Familial Mediterranean fever [RCV001119151] |
Chr16:3242133 [GRCh38]
Chr16:3292133 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.*1002G>C |
single nucleotide variant |
Familial Mediterranean fever [RCV001119152] |
Chr16:3242139 [GRCh38]
Chr16:3292139 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NC_000016.10:g.(?_3243121)_(3257201_?)dup |
duplication |
Familial Mediterranean fever [RCV001032675] |
Chr16:3293121..3307201 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2336G>T (p.Gly779Val) |
single nucleotide variant |
Familial Mediterranean fever [RCV001044126] |
Chr16:3243151 [GRCh38]
Chr16:3293151 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1619_1620del (p.Thr540fs) |
deletion |
Familial Mediterranean fever [RCV001044448] |
Chr16:3244579..3244580 [GRCh38]
Chr16:3294579..3294580 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2111T>G (p.Val704Gly) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127603]|Familial Mediterranean fever [RCV001048846]|Familial Mediterranean fever [RCV002479296]|Familial Mediterranean fever, autosomal dominant [RCV003127602] |
Chr16:3243376 [GRCh38]
Chr16:3293376 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.2330dup (p.Gln778fs) |
duplication |
Familial Mediterranean fever [RCV000989469] |
Chr16:3243156..3243157 [GRCh38]
Chr16:3293156..3293157 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1773T>G (p.Ile591Met) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127572]|Familial Mediterranean fever [RCV000989480]|Familial Mediterranean fever, autosomal dominant [RCV003127571] |
Chr16:3243879 [GRCh38]
Chr16:3293879 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1730C>G (p.Thr577Ser) |
single nucleotide variant |
Familial Mediterranean fever [RCV000989481] |
Chr16:3244283 [GRCh38]
Chr16:3294283 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1522C>G (p.Leu508Val) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127618]|Familial Mediterranean fever [RCV001066615]|Familial Mediterranean fever, autosomal dominant [RCV001274313]|not provided [RCV001811638] |
Chr16:3247081 [GRCh38]
Chr16:3297081 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.2066G>C (p.Trp689Ser) |
single nucleotide variant |
not provided [RCV001172093] |
Chr16:3243421 [GRCh38]
Chr16:3293421 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1129C>G (p.Arg377Gly) |
single nucleotide variant |
Familial Mediterranean fever [RCV001175243] |
Chr16:3249562 [GRCh38]
Chr16:3299562 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2164G>T (p.Val722Leu) |
single nucleotide variant |
Familial Mediterranean fever [RCV001209199] |
Chr16:3243323 [GRCh38]
Chr16:3293323 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.5C>G (p.Ala2Gly) |
single nucleotide variant |
Familial Mediterranean fever [RCV001222174]|MEFV-related condition [RCV003973147] |
Chr16:3256583 [GRCh38]
Chr16:3306583 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.101A>C (p.Gln34Pro) |
single nucleotide variant |
Familial Mediterranean fever [RCV001243352] |
Chr16:3256487 [GRCh38]
Chr16:3306487 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127715]|Familial Mediterranean fever [RCV001238979]|Familial Mediterranean fever, autosomal dominant [RCV003127714]|not provided [RCV001532318] |
Chr16:3248913 [GRCh38]
Chr16:3298913 [GRCh37]
Chr16:16p13.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.497C>T (p.Ser166Leu) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127720]|Familial Mediterranean fever [RCV001240669]|Familial Mediterranean fever [RCV002480800]|Familial Mediterranean fever, autosomal dominant [RCV003127719] |
Chr16:3254571 [GRCh38]
Chr16:3304571 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.265del (p.Ala89fs) |
deletion |
Familial Mediterranean fever [RCV001240947] |
Chr16:3256323 [GRCh38]
Chr16:3306323 [GRCh37]
Chr16:16p13.3 |
pathogenic |
| NM_000243.3(MEFV):c.803C>A (p.Ala268Asp) |
single nucleotide variant |
Familial Mediterranean fever [RCV001210039] |
Chr16:3254265 [GRCh38]
Chr16:3304265 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.566G>T (p.Gly189Val) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127700]|Familial Mediterranean fever [RCV001225884]|Familial Mediterranean fever [RCV002497768]|Familial Mediterranean fever, autosomal dominant [RCV003127699] |
Chr16:3254502 [GRCh38]
Chr16:3304502 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.2117C>T (p.Pro706Leu) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127728]|Familial Mediterranean fever [RCV001246070]|Familial Mediterranean fever [RCV002484375]|Familial Mediterranean fever, autosomal dominant [RCV003127727] |
Chr16:3243370 [GRCh38]
Chr16:3293370 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.385G>A (p.Gly129Arg) |
single nucleotide variant |
Familial Mediterranean fever [RCV001226523] |
Chr16:3254683 [GRCh38]
Chr16:3304683 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1895G>C (p.Gly632Ala) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127568]|Familial Mediterranean fever [RCV000989476]|Familial Mediterranean fever, autosomal dominant [RCV003127567] |
Chr16:3243592 [GRCh38]
Chr16:3293592 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1854G>C (p.Lys618Asn) |
single nucleotide variant |
Familial Mediterranean fever [RCV000989478] |
Chr16:3243633 [GRCh38]
Chr16:3293633 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.578C>T (p.Ala193Val) |
single nucleotide variant |
not provided [RCV000996178] |
Chr16:3254490 [GRCh38]
Chr16:3304490 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.128G>A (p.Ser43Asn) |
single nucleotide variant |
MEFV-related condition [RCV003413788]|not provided [RCV000996179] |
Chr16:3256460 [GRCh38]
Chr16:3306460 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| GRCh37/hg19 16p13.3(chr16:3293141-3306587)x3 |
copy number gain |
not provided [RCV000996423] |
Chr16:3293141..3306587 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2068G>C (p.Val690Leu) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127636]|Familial Mediterranean fever [RCV001121251]|Familial Mediterranean fever [RCV002491374]|Familial Mediterranean fever, autosomal dominant [RCV003127635] |
Chr16:3243419 [GRCh38]
Chr16:3293419 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.*1096A>T |
single nucleotide variant |
Familial Mediterranean fever [RCV001117557] |
Chr16:3242045 [GRCh38]
Chr16:3292045 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2048C>T (p.Ser683Leu) |
single nucleotide variant |
Familial Mediterranean fever [RCV001212071] |
Chr16:3243439 [GRCh38]
Chr16:3293439 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.455G>C (p.Gly152Ala) |
single nucleotide variant |
Familial Mediterranean fever [RCV003105192] |
Chr16:3254613 [GRCh38]
Chr16:3304613 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.196G>A (p.Ala66Thr) |
single nucleotide variant |
Familial Mediterranean fever [RCV003105186] |
Chr16:3256392 [GRCh38]
Chr16:3306392 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.916C>T (p.Pro306Ser) |
single nucleotide variant |
Familial Mediterranean fever [RCV001578714] |
Chr16:3249775 [GRCh38]
Chr16:3299775 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1437C>A (p.Phe479Leu) |
single nucleotide variant |
Familial Mediterranean fever [RCV003106758] |
Chr16:3247166 [GRCh38]
Chr16:3297166 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2296A>C (p.Asn766His) |
single nucleotide variant |
not provided [RCV001703387] |
Chr16:3243191 [GRCh38]
Chr16:3293191 [GRCh37]
Chr16:16p13.3 |
likely pathogenic |
| NM_000243.3(MEFV):c.431G>A (p.Cys144Tyr) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127990]|Familial Mediterranean fever [RCV001827457]|Familial Mediterranean fever, autosomal dominant [RCV003127989]|not provided [RCV001549976] |
Chr16:3254637 [GRCh38]
Chr16:3304637 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.911-23G>A |
single nucleotide variant |
not provided [RCV001681736] |
Chr16:3249803 [GRCh38]
Chr16:3299803 [GRCh37]
Chr16:16p13.3 |
benign |
| NM_000243.3(MEFV):c.1587+147C>T |
single nucleotide variant |
not provided [RCV001577871] |
Chr16:3246869 [GRCh38]
Chr16:3296869 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.278-59G>A |
single nucleotide variant |
not provided [RCV001552106] |
Chr16:3254849 [GRCh38]
Chr16:3304849 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1587+214T>C |
single nucleotide variant |
not provided [RCV001546591] |
Chr16:3246802 [GRCh38]
Chr16:3296802 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1759+99del |
deletion |
not provided [RCV001696661]|not specified [RCV003394216] |
Chr16:3244155 [GRCh38]
Chr16:3294155 [GRCh37]
Chr16:16p13.3 |
benign |
| NM_000243.3(MEFV):c.833G>A (p.Arg278Gln) |
single nucleotide variant |
Familial Mediterranean fever [RCV001578716] |
Chr16:3254235 [GRCh38]
Chr16:3304235 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.948C>T (p.His316=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264037]|Familial Mediterranean fever [RCV000875656]|Inborn genetic diseases [RCV002372487]|not provided [RCV001712821] |
Chr16:3249743 [GRCh38]
Chr16:3299743 [GRCh37]
Chr16:16p13.3 |
benign|likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1038C>G (p.Gly346=) |
single nucleotide variant |
Familial Mediterranean fever [RCV000907142]|Inborn genetic diseases [RCV002390892]|MEFV-related condition [RCV003912957] |
Chr16:3249653 [GRCh38]
Chr16:3299653 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.801A>G (p.Thr267=) |
single nucleotide variant |
Familial Mediterranean fever [RCV000925002]|Inborn genetic diseases [RCV002416152] |
Chr16:3254267 [GRCh38]
Chr16:3304267 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.454G>C (p.Gly152Arg) |
single nucleotide variant |
Familial Mediterranean fever [RCV001221923] |
Chr16:3254614 [GRCh38]
Chr16:3304614 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.623G>C (p.Ser208Thr) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127734]|Autoinflammatory syndrome [RCV002264251]|Familial Mediterranean fever [RCV001247261]|Familial Mediterranean fever, autosomal dominant [RCV003127733]|not specified [RCV003235515] |
Chr16:3254445 [GRCh38]
Chr16:3304445 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.730G>A (p.Glu244Lys) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV001174525] |
Chr16:3254338 [GRCh38]
Chr16:3304338 [GRCh37]
Chr16:16p13.3 |
pathogenic |
| NM_000243.3(MEFV):c.574A>G (p.Arg192Gly) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127683]|Familial Mediterranean fever [RCV001207798]|Familial Mediterranean fever, autosomal dominant [RCV003127682]|not provided [RCV001812251] |
Chr16:3254494 [GRCh38]
Chr16:3304494 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.283T>C (p.Ser95Pro) |
single nucleotide variant |
Familial Mediterranean fever [RCV001203619] |
Chr16:3254785 [GRCh38]
Chr16:3304785 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.334G>A (p.Glu112Lys) |
single nucleotide variant |
Familial Mediterranean fever [RCV001243283] |
Chr16:3254734 [GRCh38]
Chr16:3304734 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.565_570dup (p.Gly189_Pro190dup) |
duplication |
Acute febrile neutrophilic dermatosis [RCV003127718]|Familial Mediterranean fever [RCV001239806]|Familial Mediterranean fever [RCV002491789]|Familial Mediterranean fever, autosomal dominant [RCV003127717]|MEFV-related condition [RCV003405436]|not provided [RCV001819938] |
Chr16:3254497..3254498 [GRCh38]
Chr16:3304497..3304498 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.922G>T (p.Asp308Tyr) |
single nucleotide variant |
Familial Mediterranean fever [RCV001223713] |
Chr16:3249769 [GRCh38]
Chr16:3299769 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.881G>T (p.Gly294Val) |
single nucleotide variant |
Familial Mediterranean fever [RCV001224128] |
Chr16:3254187 [GRCh38]
Chr16:3304187 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.973G>A (p.Gly325Ser) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127610]|Familial Mediterranean fever [RCV001058593]|Familial Mediterranean fever [RCV002505619]|Familial Mediterranean fever, autosomal dominant [RCV003127609] |
Chr16:3249718 [GRCh38]
Chr16:3299718 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.94A>T (p.Ser32Cys) |
single nucleotide variant |
Familial Mediterranean fever [RCV001059920] |
Chr16:3256494 [GRCh38]
Chr16:3306494 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.568C>T (p.Pro190Ser) |
single nucleotide variant |
Familial Mediterranean fever [RCV001067315] |
Chr16:3254500 [GRCh38]
Chr16:3304500 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2281C>A (p.Arg761Ser) |
single nucleotide variant |
Familial Mediterranean fever [RCV000989471] |
Chr16:3243206 [GRCh38]
Chr16:3293206 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1611-170C>G |
single nucleotide variant |
not provided [RCV001558089] |
Chr16:3244758 [GRCh38]
Chr16:3294758 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1610+257G>C |
single nucleotide variant |
not provided [RCV001558287] |
Chr16:3246268 [GRCh38]
Chr16:3296268 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1889C>T (p.Pro630Leu) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127570]|Familial Mediterranean fever [RCV000989477]|Familial Mediterranean fever [RCV002489460]|Familial Mediterranean fever, autosomal dominant [RCV003127569] |
Chr16:3243598 [GRCh38]
Chr16:3293598 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1841C>T (p.Ser614Phe) |
single nucleotide variant |
Familial Mediterranean fever [RCV000989479] |
Chr16:3243646 [GRCh38]
Chr16:3293646 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1611-344dup |
duplication |
not provided [RCV001553258] |
Chr16:3244923..3244924 [GRCh38]
Chr16:3294923..3294924 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1727-61A>G |
single nucleotide variant |
not provided [RCV001549608] |
Chr16:3244347 [GRCh38]
Chr16:3294347 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.910+29C>G |
single nucleotide variant |
not provided [RCV001568570] |
Chr16:3254129 [GRCh38]
Chr16:3304129 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1530T>A (p.Asp510Glu) |
single nucleotide variant |
Familial Mediterranean fever [RCV001048842] |
Chr16:3247073 [GRCh38]
Chr16:3297073 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1597_1598dup (p.Asp533fs) |
microsatellite |
Familial Mediterranean fever [RCV001535879] |
Chr16:3246536..3246537 [GRCh38]
Chr16:3296536..3296537 [GRCh37]
Chr16:16p13.3 |
likely pathogenic |
| NM_000243.3(MEFV):c.411C>G (p.Gly137=) |
single nucleotide variant |
not provided [RCV001595788] |
Chr16:3254657 [GRCh38]
Chr16:3304657 [GRCh37]
Chr16:16p13.3 |
benign |
| NM_000243.3(MEFV):c.1357-208A>C |
single nucleotide variant |
not provided [RCV001596355] |
Chr16:3247454 [GRCh38]
Chr16:3297454 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2205A>G (p.Thr735=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002557947]|not provided [RCV001090248] |
Chr16:3243282 [GRCh38]
Chr16:3293282 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.992C>T (p.Ser331Phe) |
single nucleotide variant |
not provided [RCV001090250] |
Chr16:3249699 [GRCh38]
Chr16:3299699 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.808A>G (p.Asn270Asp) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127627]|Familial Mediterranean fever [RCV002489726]|Familial Mediterranean fever [RCV003127625]|Familial Mediterranean fever, autosomal dominant [RCV003127626]|not provided [RCV001090251] |
Chr16:3254260 [GRCh38]
Chr16:3304260 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.641A>C (p.Gln214Pro) |
single nucleotide variant |
not specified [RCV001001030] |
Chr16:3254427 [GRCh38]
Chr16:3304427 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.357G>C (p.Lys119Asn) |
single nucleotide variant |
Familial Mediterranean fever [RCV001027834]|Familial Mediterranean fever [RCV003224514] |
Chr16:3254711 [GRCh38]
Chr16:3304711 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.841C>T (p.Pro281Ser) |
single nucleotide variant |
not provided [RCV001172094] |
Chr16:3254227 [GRCh38]
Chr16:3304227 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2246C>A (p.Ser749Tyr) |
single nucleotide variant |
Familial Mediterranean fever [RCV001119245] |
Chr16:3243241 [GRCh38]
Chr16:3293241 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.995G>A (p.Cys332Tyr) |
single nucleotide variant |
Familial Mediterranean fever [RCV001053548] |
Chr16:3249696 [GRCh38]
Chr16:3299696 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.548C>T (p.Pro183Leu) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127608]|Familial Mediterranean fever [RCV001054872]|Familial Mediterranean fever [RCV002497422]|Familial Mediterranean fever, autosomal dominant [RCV003127607]|Inborn genetic diseases [RCV002348409] |
Chr16:3254520 [GRCh38]
Chr16:3304520 [GRCh37]
Chr16:16p13.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.*797T>C |
single nucleotide variant |
Familial Mediterranean fever [RCV001121143] |
Chr16:3242344 [GRCh38]
Chr16:3292344 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127638]|Familial Mediterranean fever [RCV001121353]|Familial Mediterranean fever [RCV002482225]|Familial Mediterranean fever, autosomal dominant [RCV003127637]|not specified [RCV001174702] |
Chr16:3249586 [GRCh38]
Chr16:3299586 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1501C>T (p.Arg501Cys) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127674]|Familial Mediterranean fever [RCV001833735]|Familial Mediterranean fever [RCV002505757]|Familial Mediterranean fever, autosomal dominant [RCV003127673]|not specified [RCV001175537] |
Chr16:3247102 [GRCh38]
Chr16:3297102 [GRCh37]
Chr16:16p13.3 |
benign|uncertain significance |
| NM_000243.3(MEFV):c.1996A>T (p.Ile666Phe) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127581]|Familial Mediterranean fever [RCV001827156]|Familial Mediterranean fever [RCV002481799]|Familial Mediterranean fever, autosomal dominant [RCV003127580]|not specified [RCV001002108] |
Chr16:3243491 [GRCh38]
Chr16:3293491 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1356+11A>C |
single nucleotide variant |
Familial Mediterranean fever [RCV002068125]|not specified [RCV001174703] |
Chr16:3248898 [GRCh38]
Chr16:3298898 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1610+295G>A |
single nucleotide variant |
not provided [RCV001587791] |
Chr16:3246230 [GRCh38]
Chr16:3296230 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2166G>A (p.Val722=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002538513]|not provided [RCV001610134] |
Chr16:3243321 [GRCh38]
Chr16:3293321 [GRCh37]
Chr16:16p13.3 |
benign|likely benign |
| NM_000243.3(MEFV):c.828A>C (p.Glu276Asp) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127606]|Familial Mediterranean fever [RCV001052237]|Familial Mediterranean fever [RCV002505600]|Familial Mediterranean fever, autosomal dominant [RCV003127605] |
Chr16:3254240 [GRCh38]
Chr16:3304240 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.405C>G (p.Tyr135Ter) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127613]|Familial Mediterranean fever [RCV001065276]|Familial Mediterranean fever [RCV002505642]|Familial Mediterranean fever, autosomal dominant [RCV003127612] |
Chr16:3254663 [GRCh38]
Chr16:3304663 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1759+1G>T |
single nucleotide variant |
Familial Mediterranean fever [RCV001217685] |
Chr16:3244253 [GRCh38]
Chr16:3294253 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.398G>T (p.Arg133Leu) |
single nucleotide variant |
Familial Mediterranean fever [RCV001117888] |
Chr16:3254670 [GRCh38]
Chr16:3304670 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.390C>G (p.Asn130Lys) |
single nucleotide variant |
Familial Mediterranean fever [RCV001117889] |
Chr16:3254678 [GRCh38]
Chr16:3304678 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3 |
copy number gain |
not provided [RCV001006745] |
Chr16:2651354..4614965 [GRCh37]
Chr16:16p13.3 |
pathogenic |
| NM_000243.3(MEFV):c.*959T>C |
single nucleotide variant |
Familial Mediterranean fever [RCV001119154] |
Chr16:3242182 [GRCh38]
Chr16:3292182 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.*981A>G |
single nucleotide variant |
Familial Mediterranean fever [RCV001119153] |
Chr16:3242160 [GRCh38]
Chr16:3292160 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.*862A>C |
single nucleotide variant |
Familial Mediterranean fever [RCV001119155] |
Chr16:3242279 [GRCh38]
Chr16:3292279 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1303A>C (p.Lys435Gln) |
single nucleotide variant |
Familial Mediterranean fever [RCV001119341] |
Chr16:3248962 [GRCh38]
Chr16:3298962 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.*761C>G |
single nucleotide variant |
Familial Mediterranean fever [RCV001121144] |
Chr16:3242380 [GRCh38]
Chr16:3292380 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.*721T>A |
single nucleotide variant |
Familial Mediterranean fever [RCV001121145] |
Chr16:3242420 [GRCh38]
Chr16:3292420 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1984A>G (p.Lys662Glu) |
single nucleotide variant |
Familial Mediterranean fever [RCV001216278] |
Chr16:3243503 [GRCh38]
Chr16:3293503 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.686T>G (p.Phe229Cys) |
single nucleotide variant |
Familial Mediterranean fever [RCV001203121] |
Chr16:3254382 [GRCh38]
Chr16:3304382 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.*695C>G |
single nucleotide variant |
Familial Mediterranean fever [RCV001121146] |
Chr16:3242446 [GRCh38]
Chr16:3292446 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2158A>G (p.Ile720Val) |
single nucleotide variant |
Familial Mediterranean fever [RCV001121250] |
Chr16:3243329 [GRCh38]
Chr16:3293329 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1627G>C (p.Val543Leu) |
single nucleotide variant |
Familial Mediterranean fever [RCV001175245] |
Chr16:3244572 [GRCh38]
Chr16:3294572 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.377G>T (p.Gly126Val) |
single nucleotide variant |
Familial Mediterranean fever [RCV001117890] |
Chr16:3254691 [GRCh38]
Chr16:3304691 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127706]|Familial Mediterranean fever [RCV001228467]|Familial Mediterranean fever [RCV002504301]|Familial Mediterranean fever, autosomal dominant [RCV003127705] |
Chr16:3247075 [GRCh38]
Chr16:3297075 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1324T>A (p.Ser442Thr) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127691]|Familial Mediterranean fever [RCV001216264]|Familial Mediterranean fever [RCV002480711]|Familial Mediterranean fever, autosomal dominant [RCV003127690] |
Chr16:3248941 [GRCh38]
Chr16:3298941 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.490A>C (p.Lys164Gln) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127583]|Familial Mediterranean fever [RCV001218918]|Familial Mediterranean fever [RCV002505532]|Familial Mediterranean fever, autosomal dominant [RCV003127582]|not specified [RCV001002490] |
Chr16:3254578 [GRCh38]
Chr16:3304578 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1758T>C (p.Asn586=) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127634]|Familial Mediterranean fever [RCV001116331]|Familial Mediterranean fever, autosomal dominant [RCV003127633] |
Chr16:3244255 [GRCh38]
Chr16:3294255 [GRCh37]
Chr16:16p13.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.1792G>A (p.Val598Ile) |
single nucleotide variant |
Familial Mediterranean fever [RCV001204834] |
Chr16:3243860 [GRCh38]
Chr16:3293860 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 |
copy number gain |
not provided [RCV001259749] |
Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3 |
pathogenic |
| NM_000243.3(MEFV):c.378G>T (p.Gly126=) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127741]|Familial Mediterranean fever [RCV001339993]|Familial Mediterranean fever, autosomal dominant [RCV003127740]|not specified [RCV001264477] |
Chr16:3254690 [GRCh38]
Chr16:3304690 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 |
copy number gain |
not provided [RCV001537890] |
Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3 |
pathogenic |
| GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 |
copy number gain |
See cases [RCV001263169] |
Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2 |
pathogenic|likely pathogenic |
| NM_000243.2:c.(?_911)_(1356_?)del |
deletion |
Familial Mediterranean fever [RCV001269327] |
|
likely pathogenic |
| NM_000243.3(MEFV):c.202C>T (p.Gln68Ter) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127758]|Familial Mediterranean fever [RCV002493511]|Familial Mediterranean fever [RCV003127756]|Familial Mediterranean fever, autosomal dominant [RCV003127757]|not provided [RCV001813117] |
Chr16:3256386 [GRCh38]
Chr16:3306386 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.176C>G (p.Thr59Ser) |
single nucleotide variant |
not specified [RCV001260305] |
Chr16:3256412 [GRCh38]
Chr16:3306412 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2032G>A (p.Gly678Arg) |
single nucleotide variant |
Familial Mediterranean fever [RCV001337963] |
Chr16:3243455 [GRCh38]
Chr16:3293455 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1760-97G>A |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127753]|Familial Mediterranean fever [RCV003127751]|Familial Mediterranean fever, autosomal dominant [RCV003127752]|not provided [RCV001564716] |
Chr16:3243989 [GRCh38]
Chr16:3293989 [GRCh37]
Chr16:16p13.3 |
benign|likely benign |
| NM_000243.3(MEFV):c.1260+17T>C |
single nucleotide variant |
not provided [RCV001810658] |
Chr16:3249414 [GRCh38]
Chr16:3299414 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.130C>T (p.Gln44Ter) |
single nucleotide variant |
Familial Mediterranean fever [RCV001337573] |
Chr16:3256458 [GRCh38]
Chr16:3306458 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.301A>G (p.Thr101Ala) |
single nucleotide variant |
Familial Mediterranean fever [RCV001348927] |
Chr16:3254767 [GRCh38]
Chr16:3304767 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.64G>A (p.Glu22Lys) |
single nucleotide variant |
Familial Mediterranean fever [RCV001326764] |
Chr16:3256524 [GRCh38]
Chr16:3306524 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.403T>A (p.Tyr135Asn) |
single nucleotide variant |
Familial Mediterranean fever [RCV001320729] |
Chr16:3254665 [GRCh38]
Chr16:3304665 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2230G>C (p.Ala744Pro) |
single nucleotide variant |
Familial Mediterranean fever [RCV001294949] |
Chr16:3243257 [GRCh38]
Chr16:3293257 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1465C>T (p.Gln489Ter) |
single nucleotide variant |
Familial Mediterranean fever [RCV001350700] |
Chr16:3247138 [GRCh38]
Chr16:3297138 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1212C>A (p.His404Gln) |
single nucleotide variant |
Familial Mediterranean fever [RCV001368722] |
Chr16:3249479 [GRCh38]
Chr16:3299479 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.585G>C (p.Glu195Asp) |
single nucleotide variant |
Familial Mediterranean fever [RCV001835378]|not provided [RCV001810651] |
Chr16:3254483 [GRCh38]
Chr16:3304483 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1127A>G (p.Lys376Arg) |
single nucleotide variant |
Familial Mediterranean fever [RCV001369506] |
Chr16:3249564 [GRCh38]
Chr16:3299564 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.268G>C (p.Ala90Pro) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127833]|Familial Mediterranean fever [RCV001360070]|Familial Mediterranean fever [RCV002504590]|Familial Mediterranean fever, autosomal dominant [RCV003127832] |
Chr16:3256320 [GRCh38]
Chr16:3306320 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1577A>G (p.Glu526Gly) |
single nucleotide variant |
Familial Mediterranean fever [RCV001345647] |
Chr16:3247026 [GRCh38]
Chr16:3297026 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1808A>G (p.Asp603Gly) |
single nucleotide variant |
Familial Mediterranean fever [RCV001345672] |
Chr16:3243679 [GRCh38]
Chr16:3293679 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.475A>G (p.Ser159Gly) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127789]|Familial Mediterranean fever [RCV001309521]|Familial Mediterranean fever [RCV002476432]|Familial Mediterranean fever, autosomal dominant [RCV003127788] |
Chr16:3254593 [GRCh38]
Chr16:3304593 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.597dup (p.Glu200fs) |
duplication |
Familial Mediterranean fever [RCV001346636] |
Chr16:3254470..3254471 [GRCh38]
Chr16:3304470..3304471 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.704C>T (p.Ser235Leu) |
single nucleotide variant |
Familial Mediterranean fever [RCV001309646] |
Chr16:3254364 [GRCh38]
Chr16:3304364 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.520A>G (p.Lys174Glu) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127777]|Familial Mediterranean fever [RCV001303574]|Familial Mediterranean fever [RCV002486172]|Familial Mediterranean fever, autosomal dominant [RCV003127776] |
Chr16:3254548 [GRCh38]
Chr16:3304548 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.32C>G (p.Ser11Cys) |
single nucleotide variant |
Familial Mediterranean fever [RCV001367679] |
Chr16:3256556 [GRCh38]
Chr16:3306556 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1399G>A (p.Glu467Lys) |
single nucleotide variant |
Familial Mediterranean fever [RCV001278367] |
Chr16:3247204 [GRCh38]
Chr16:3297204 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2055G>T (p.Glu685Asp) |
single nucleotide variant |
Familial Mediterranean fever [RCV001278365] |
Chr16:3243432 [GRCh38]
Chr16:3293432 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.552C>T (p.Gly184=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001278368] |
Chr16:3254516 [GRCh38]
Chr16:3304516 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1450C>A (p.Leu484Met) |
single nucleotide variant |
Familial Mediterranean fever [RCV001341113] |
Chr16:3247153 [GRCh38]
Chr16:3297153 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1902A>G (p.Gln634=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001323237] |
Chr16:3243585 [GRCh38]
Chr16:3293585 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1957C>A (p.Arg653Ser) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127849]|Familial Mediterranean fever [RCV001372413]|Familial Mediterranean fever [RCV002488177]|Familial Mediterranean fever, autosomal dominant [RCV003127848] |
Chr16:3243530 [GRCh38]
Chr16:3293530 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1029G>T (p.Gln343His) |
single nucleotide variant |
Familial Mediterranean fever [RCV001300667] |
Chr16:3249662 [GRCh38]
Chr16:3299662 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1969G>A (p.Val657Met) |
single nucleotide variant |
Familial Mediterranean fever [RCV001323485] |
Chr16:3243518 [GRCh38]
Chr16:3293518 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.711G>T (p.Lys237Asn) |
single nucleotide variant |
Familial Mediterranean fever [RCV001345365] |
Chr16:3254357 [GRCh38]
Chr16:3304357 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.319T>G (p.Ser107Ala) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127787]|Familial Mediterranean fever [RCV001307126]|Familial Mediterranean fever [RCV002476413]|Familial Mediterranean fever, autosomal dominant [RCV003127786] |
Chr16:3254749 [GRCh38]
Chr16:3304749 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.56A>G (p.Tyr19Cys) |
single nucleotide variant |
Familial Mediterranean fever [RCV001373082]|not provided [RCV001573106] |
Chr16:3256532 [GRCh38]
Chr16:3306532 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1018G>C (p.Gly340Arg) |
single nucleotide variant |
Familial Mediterranean fever [RCV001319618] |
Chr16:3249673 [GRCh38]
Chr16:3299673 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1301_1302dup (p.Lys435fs) |
microsatellite |
Familial Mediterranean fever [RCV001363780] |
Chr16:3248962..3248963 [GRCh38]
Chr16:3298962..3298963 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2310_2313del (p.Thr771fs) |
deletion |
Acute febrile neutrophilic dermatosis [RCV003127801]|Familial Mediterranean fever [RCV001317576]|Familial Mediterranean fever [RCV002504492]|Familial Mediterranean fever, autosomal dominant [RCV003127800] |
Chr16:3243174..3243177 [GRCh38]
Chr16:3293174..3293177 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.201_202delinsTT (p.Gln68Ter) |
indel |
Acute febrile neutrophilic dermatosis [RCV003127817]|Familial Mediterranean fever [RCV001339996]|Familial Mediterranean fever [RCV002504532]|Familial Mediterranean fever, autosomal dominant [RCV003127816] |
Chr16:3256386..3256387 [GRCh38]
Chr16:3306386..3306387 [GRCh37]
Chr16:16p13.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.150G>A (p.Pro50=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264296]|Familial Mediterranean fever [RCV001395412] |
Chr16:3256438 [GRCh38]
Chr16:3306438 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.2204C>T (p.Thr735Ile) |
single nucleotide variant |
Familial Mediterranean fever [RCV001366441] |
Chr16:3243283 [GRCh38]
Chr16:3293283 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1027del (p.Gln343fs) |
deletion |
Familial mediterranean fever, autosomal dominant [RCV001336745] |
Chr16:3249664 [GRCh38]
Chr16:3299664 [GRCh37]
Chr16:16p13.3 |
pathogenic |
| NM_000243.3(MEFV):c.1559A>T (p.Glu520Val) |
single nucleotide variant |
Familial Mediterranean fever [RCV001368511] |
Chr16:3247044 [GRCh38]
Chr16:3297044 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1897C>A (p.Pro633Thr) |
single nucleotide variant |
Familial Mediterranean fever [RCV001278366] |
Chr16:3243590 [GRCh38]
Chr16:3293590 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.261del (p.His87fs) |
deletion |
Familial Mediterranean fever [RCV001297649] |
Chr16:3256327 [GRCh38]
Chr16:3306327 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.697C>T (p.Leu233=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001421158] |
Chr16:3254371 [GRCh38]
Chr16:3304371 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.839G>A (p.Arg280Lys) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127815]|Autoinflammatory syndrome [RCV002264271]|Familial Mediterranean fever [RCV001339143]|Familial Mediterranean fever, autosomal dominant [RCV003127814] |
Chr16:3254229 [GRCh38]
Chr16:3304229 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.813G>A (p.Leu271=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001412338] |
Chr16:3254255 [GRCh38]
Chr16:3304255 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.664G>C (p.Gly222Arg) |
single nucleotide variant |
Familial Mediterranean fever [RCV001365888] |
Chr16:3254404 [GRCh38]
Chr16:3304404 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.186G>A (p.Gly62=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001395525] |
Chr16:3256402 [GRCh38]
Chr16:3306402 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1062G>C (p.Arg354=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001427957] |
Chr16:3249629 [GRCh38]
Chr16:3299629 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.249C>T (p.Ala83=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001464667] |
Chr16:3256339 [GRCh38]
Chr16:3306339 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.570C>T (p.Pro190=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001492456] |
Chr16:3254498 [GRCh38]
Chr16:3304498 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1005C>T (p.Pro335=) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127962]|Familial Mediterranean fever [RCV001486338]|Familial Mediterranean fever, autosomal dominant [RCV003127961]|Inborn genetic diseases [RCV002414178] |
Chr16:3249686 [GRCh38]
Chr16:3299686 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.555G>C (p.Gly185=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001452112] |
Chr16:3254513 [GRCh38]
Chr16:3304513 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.849G>T (p.Pro283=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001459323] |
Chr16:3254219 [GRCh38]
Chr16:3304219 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.438G>A (p.Gln146=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001466427] |
Chr16:3254630 [GRCh38]
Chr16:3304630 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.162C>T (p.Ala54=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001471778] |
Chr16:3256426 [GRCh38]
Chr16:3306426 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.12C>A (p.Thr4=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001489119] |
Chr16:3256576 [GRCh38]
Chr16:3306576 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1401G>A (p.Glu467=) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127976]|Familial Mediterranean fever [RCV001500707]|Familial Mediterranean fever [RCV002495762]|Familial Mediterranean fever, autosomal dominant [RCV003127975] |
Chr16:3247202 [GRCh38]
Chr16:3297202 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.588G>A (p.Gly196=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001431952] |
Chr16:3254480 [GRCh38]
Chr16:3304480 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.840G>A (p.Arg280=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264351]|Familial Mediterranean fever [RCV001489672] |
Chr16:3254228 [GRCh38]
Chr16:3304228 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1032C>G (p.Ala344=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001488168] |
Chr16:3249659 [GRCh38]
Chr16:3299659 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1155C>A (p.Leu385=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001429823] |
Chr16:3249536 [GRCh38]
Chr16:3299536 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1188C>T (p.Leu396=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001443333] |
Chr16:3249503 [GRCh38]
Chr16:3299503 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.927G>A (p.Thr309=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001409207] |
Chr16:3249764 [GRCh38]
Chr16:3299764 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1674A>G (p.Gln558=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001446086] |
Chr16:3244525 [GRCh38]
Chr16:3294525 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1650T>G (p.Pro550=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001402122] |
Chr16:3244549 [GRCh38]
Chr16:3294549 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.849G>A (p.Pro283=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001405092] |
Chr16:3254219 [GRCh38]
Chr16:3304219 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.637C>T (p.Leu213=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001407483] |
Chr16:3254431 [GRCh38]
Chr16:3304431 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1911C>T (p.Asp637=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001446710] |
Chr16:3243576 [GRCh38]
Chr16:3293576 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1038C>A (p.Gly346=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001447242] |
Chr16:3249653 [GRCh38]
Chr16:3299653 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1792+9C>G |
single nucleotide variant |
Familial Mediterranean fever [RCV001402485] |
Chr16:3243851 [GRCh38]
Chr16:3293851 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1395G>A (p.Lys465=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001408080] |
Chr16:3247208 [GRCh38]
Chr16:3297208 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.240C>T (p.Arg80=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001416182] |
Chr16:3256348 [GRCh38]
Chr16:3306348 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.618C>T (p.Asn206=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001408693] |
Chr16:3254450 [GRCh38]
Chr16:3304450 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.789A>G (p.Leu263=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001440469] |
Chr16:3254279 [GRCh38]
Chr16:3304279 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.540G>A (p.Pro180=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001408907] |
Chr16:3254528 [GRCh38]
Chr16:3304528 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1261-4C>A |
single nucleotide variant |
Familial Mediterranean fever [RCV001443292] |
Chr16:3249008 [GRCh38]
Chr16:3299008 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.911-145G>T |
single nucleotide variant |
not provided [RCV001541216] |
Chr16:3249925 [GRCh38]
Chr16:3299925 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1251G>A (p.Leu417=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001490363] |
Chr16:3249440 [GRCh38]
Chr16:3299440 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1686G>A (p.Gln562=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001450349] |
Chr16:3244513 [GRCh38]
Chr16:3294513 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.37C>G (p.Leu13Val) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127985]|Familial Mediterranean fever [RCV001514888]|Familial Mediterranean fever [RCV002506609]|Familial Mediterranean fever, autosomal dominant [RCV003127984] |
Chr16:3256551 [GRCh38]
Chr16:3306551 [GRCh37]
Chr16:16p13.3 |
benign |
| NM_000243.3(MEFV):c.241C>T (p.Leu81=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001468954] |
Chr16:3256347 [GRCh38]
Chr16:3306347 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1760-5C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV001464970] |
Chr16:3243897 [GRCh38]
Chr16:3293897 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2214C>T (p.Ser738=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001451437] |
Chr16:3243273 [GRCh38]
Chr16:3293273 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1760-4G>C |
single nucleotide variant |
Familial Mediterranean fever [RCV001473866] |
Chr16:3243896 [GRCh38]
Chr16:3293896 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2292G>A (p.Gly764=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001499552] |
Chr16:3243195 [GRCh38]
Chr16:3293195 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.699G>A (p.Leu233=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002568852]|not specified [RCV001526886] |
Chr16:3254369 [GRCh38]
Chr16:3304369 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.192G>A (p.Glu64=) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127964]|Familial Mediterranean fever [RCV001486689]|Familial Mediterranean fever [RCV002495726]|Familial Mediterranean fever, autosomal dominant [RCV003127963]|Inborn genetic diseases [RCV002414179] |
Chr16:3256396 [GRCh38]
Chr16:3306396 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.867G>A (p.Ala289=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001479700] |
Chr16:3254201 [GRCh38]
Chr16:3304201 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1510C>T (p.Gln504Ter) |
single nucleotide variant |
Familial Mediterranean fever [RCV001535884] |
Chr16:3247093 [GRCh38]
Chr16:3297093 [GRCh37]
Chr16:16p13.3 |
pathogenic |
| NM_000243.3(MEFV):c.1140G>A (p.Lys380=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001476698] |
Chr16:3249551 [GRCh38]
Chr16:3299551 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.909C>T (p.Thr303=) |
single nucleotide variant |
not provided [RCV001686437] |
Chr16:3254159 [GRCh38]
Chr16:3304159 [GRCh37]
Chr16:16p13.3 |
benign |
| NC_000016.10:g.3256757C>T |
single nucleotide variant |
not provided [RCV001715324] |
Chr16:3256757 [GRCh38]
Chr16:3306757 [GRCh37]
Chr16:16p13.3 |
benign |
| NM_000243.3(MEFV):c.1357-260A>T |
single nucleotide variant |
not provided [RCV001592663] |
Chr16:3247506 [GRCh38]
Chr16:3297506 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.174C>A (p.Val58=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001453840] |
Chr16:3256414 [GRCh38]
Chr16:3306414 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.357G>A (p.Lys119=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001501529] |
Chr16:3254711 [GRCh38]
Chr16:3304711 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1533G>A (p.Ala511=) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127922]|Familial Mediterranean fever [RCV001453535]|Familial Mediterranean fever [RCV002506530]|Familial Mediterranean fever, autosomal dominant [RCV003127921] |
Chr16:3247070 [GRCh38]
Chr16:3297070 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.96T>C (p.Ser32=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001505130] |
Chr16:3256492 [GRCh38]
Chr16:3306492 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.387G>A (p.Gly129=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001436192] |
Chr16:3254681 [GRCh38]
Chr16:3304681 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1759+19G>T |
single nucleotide variant |
Familial Mediterranean fever [RCV001426852] |
Chr16:3244235 [GRCh38]
Chr16:3294235 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.120C>T (p.Ile40=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001486778]|not provided [RCV003426149] |
Chr16:3256468 [GRCh38]
Chr16:3306468 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1764G>T (p.Pro588=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001486820] |
Chr16:3243888 [GRCh38]
Chr16:3293888 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.213G>A (p.Leu71=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001403104] |
Chr16:3256375 [GRCh38]
Chr16:3306375 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1260+7A>G |
single nucleotide variant |
Familial Mediterranean fever [RCV001481476] |
Chr16:3249424 [GRCh38]
Chr16:3299424 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NC_000016.10:g.3256969G>A |
single nucleotide variant |
Familial Mediterranean fever [RCV001520545]|not provided [RCV001555005] |
Chr16:3256969 [GRCh38]
Chr16:3306969 [GRCh37]
Chr16:16p13.3 |
benign|likely benign |
| NM_000243.3(MEFV):c.561C>T (p.Ser187=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001429208]|MEFV-related condition [RCV003953792] |
Chr16:3254507 [GRCh38]
Chr16:3304507 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1866T>C (p.Leu622=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001501932] |
Chr16:3243621 [GRCh38]
Chr16:3293621 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1407G>A (p.Val469=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001451548] |
Chr16:3247196 [GRCh38]
Chr16:3297196 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.765A>G (p.Ala255=) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127956]|Familial Mediterranean fever [RCV001477286]|Familial Mediterranean fever [RCV002501648]|Familial Mediterranean fever, autosomal dominant [RCV003127955] |
Chr16:3254303 [GRCh38]
Chr16:3304303 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.1386G>T (p.Val462=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001481726] |
Chr16:3247217 [GRCh38]
Chr16:3297217 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1677C>T (p.Leu559=) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127954]|Familial Mediterranean fever [RCV001476425]|Familial Mediterranean fever, autosomal dominant [RCV003127953]|Inborn genetic diseases [RCV002405127] |
Chr16:3244522 [GRCh38]
Chr16:3294522 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.2220C>A (p.Ile740=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001477901] |
Chr16:3243267 [GRCh38]
Chr16:3293267 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1074C>G (p.Ser358=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001503667] |
Chr16:3249617 [GRCh38]
Chr16:3299617 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1081A>C (p.Arg361=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001434681] |
Chr16:3249610 [GRCh38]
Chr16:3299610 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1446C>G (p.Ala482=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001434585] |
Chr16:3247157 [GRCh38]
Chr16:3297157 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.498G>C (p.Ser166=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001496896] |
Chr16:3254570 [GRCh38]
Chr16:3304570 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1170C>T (p.His390=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001404789] |
Chr16:3249521 [GRCh38]
Chr16:3299521 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.328C>T (p.Leu110=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001404796] |
Chr16:3254740 [GRCh38]
Chr16:3304740 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1818C>G (p.Thr606=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001404900] |
Chr16:3243669 [GRCh38]
Chr16:3293669 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1059C>T (p.Pro353=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001452501] |
Chr16:3249632 [GRCh38]
Chr16:3299632 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.99G>A (p.Val33=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264309]|Familial Mediterranean fever [RCV001424380]|MEFV-related condition [RCV003946110] |
Chr16:3256489 [GRCh38]
Chr16:3306489 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.630G>A (p.Ala210=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001497323] |
Chr16:3254438 [GRCh38]
Chr16:3304438 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2265C>T (p.Ile755=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001419161] |
Chr16:3243222 [GRCh38]
Chr16:3293222 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2090A>T (p.Asn697Ile) |
single nucleotide variant |
not provided [RCV001755257] |
Chr16:3243397 [GRCh38]
Chr16:3293397 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2332C>T (p.Gln778Ter) |
single nucleotide variant |
Familial Mediterranean fever [RCV003093912]|not specified [RCV002238560] |
Chr16:3243155 [GRCh38]
Chr16:3293155 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1652A>G (p.Gln551Arg) |
single nucleotide variant |
Familial Mediterranean fever [RCV003126288] |
Chr16:3244547 [GRCh38]
Chr16:3294547 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1174G>A (p.Glu392Lys) |
single nucleotide variant |
not provided [RCV001759174] |
Chr16:3249517 [GRCh38]
Chr16:3299517 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2078T>A (p.Met693Lys) |
single nucleotide variant |
not specified [RCV001733360] |
Chr16:3243409 [GRCh38]
Chr16:3293409 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2287G>A (p.Gly763Arg) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003125906]|Familial Mediterranean fever [RCV001885199]|Familial Mediterranean fever, autosomal dominant [RCV001785241] |
Chr16:3243200 [GRCh38]
Chr16:3293200 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.2303C>G (p.Ala768Gly) |
single nucleotide variant |
Familial Mediterranean fever [RCV002544233]|not provided [RCV001779666] |
Chr16:3243184 [GRCh38]
Chr16:3293184 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1024C>T (p.Pro342Ser) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003125905]|Familial Mediterranean fever [RCV001868828]|Familial Mediterranean fever, autosomal dominant [RCV003125904]|not provided [RCV001779667] |
Chr16:3249667 [GRCh38]
Chr16:3299667 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.2236T>C (p.Cys746Arg) |
single nucleotide variant |
not provided [RCV001776915] |
Chr16:3243251 [GRCh38]
Chr16:3293251 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.656G>A (p.Gly219Asp) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003125903]|Familial Mediterranean fever [RCV002503238]|Familial Mediterranean fever [RCV003125901]|Familial Mediterranean fever, autosomal dominant [RCV003125902]|not provided [RCV001757430] |
Chr16:3254412 [GRCh38]
Chr16:3304412 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1793-19A>G |
single nucleotide variant |
not specified [RCV001779512] |
Chr16:3243713 [GRCh38]
Chr16:3293713 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1130G>A (p.Arg377His) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003125914]|Familial Mediterranean fever [RCV001869640]|Familial Mediterranean fever, autosomal dominant [RCV003125913]|not provided [RCV001816168] |
Chr16:3249561 [GRCh38]
Chr16:3299561 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1792+52C>G |
single nucleotide variant |
not provided [RCV001811786] |
Chr16:3243808 [GRCh38]
Chr16:3293808 [GRCh37]
Chr16:16p13.3 |
benign |
| NM_000243.3(MEFV):c.1425G>T (p.Gln475His) |
single nucleotide variant |
not specified [RCV001806697] |
Chr16:3247178 [GRCh38]
Chr16:3297178 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.434G>C (p.Ser145Thr) |
single nucleotide variant |
Familial Mediterranean fever [RCV001928142] |
Chr16:3254634 [GRCh38]
Chr16:3304634 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.745A>G (p.Thr249Ala) |
single nucleotide variant |
Familial Mediterranean fever [RCV001928991] |
Chr16:3254323 [GRCh38]
Chr16:3304323 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2279C>T (p.Thr760Ile) |
single nucleotide variant |
Familial Mediterranean fever [RCV001987938] |
Chr16:3243208 [GRCh38]
Chr16:3293208 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.442G>A (p.Glu148Lys) |
single nucleotide variant |
Familial Mediterranean fever [RCV002008935] |
Chr16:3254626 [GRCh38]
Chr16:3304626 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1648C>G (p.Pro550Ala) |
single nucleotide variant |
Familial Mediterranean fever [RCV002044244] |
Chr16:3244551 [GRCh38]
Chr16:3294551 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1075C>A (p.His359Asn) |
single nucleotide variant |
Familial Mediterranean fever [RCV001964797] |
Chr16:3249616 [GRCh38]
Chr16:3299616 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1933T>C (p.Ser645Pro) |
single nucleotide variant |
Familial Mediterranean fever [RCV002024878] |
Chr16:3243554 [GRCh38]
Chr16:3293554 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.68A>G (p.Lys23Arg) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003125958]|Familial Mediterranean fever [RCV001896285]|Familial Mediterranean fever [RCV002506976]|Familial Mediterranean fever, autosomal dominant [RCV003125957] |
Chr16:3256520 [GRCh38]
Chr16:3306520 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.857G>C (p.Gly286Ala) |
single nucleotide variant |
Familial Mediterranean fever [RCV001914510] |
Chr16:3254211 [GRCh38]
Chr16:3304211 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1945C>G (p.Leu649Val) |
single nucleotide variant |
Familial Mediterranean fever [RCV001949938] |
Chr16:3243542 [GRCh38]
Chr16:3293542 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.611G>T (p.Arg204Leu) |
single nucleotide variant |
Familial Mediterranean fever [RCV001863277] |
Chr16:3254457 [GRCh38]
Chr16:3304457 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1441G>T (p.Val481Leu) |
single nucleotide variant |
Familial Mediterranean fever [RCV002044510] |
Chr16:3247162 [GRCh38]
Chr16:3297162 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1255C>A (p.His419Asn) |
single nucleotide variant |
Familial Mediterranean fever [RCV001894790] |
Chr16:3249436 [GRCh38]
Chr16:3299436 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.249del (p.Glu84fs) |
deletion |
Familial Mediterranean fever [RCV001966331] |
Chr16:3256339 [GRCh38]
Chr16:3306339 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1668G>C (p.Lys556Asn) |
single nucleotide variant |
Familial Mediterranean fever [RCV001985901] |
Chr16:3244531 [GRCh38]
Chr16:3294531 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.433A>C (p.Ser145Arg) |
single nucleotide variant |
Familial Mediterranean fever [RCV001891916] |
Chr16:3254635 [GRCh38]
Chr16:3304635 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1730C>T (p.Thr577Ile) |
single nucleotide variant |
Familial Mediterranean fever [RCV001965702] |
Chr16:3244283 [GRCh38]
Chr16:3294283 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.973G>C (p.Gly325Arg) |
single nucleotide variant |
Familial Mediterranean fever [RCV001871326] |
Chr16:3249718 [GRCh38]
Chr16:3299718 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NC_000016.9:g.(?_3304138)_(3306587_?)del |
deletion |
Familial Mediterranean fever [RCV001913552] |
Chr16:3304138..3306587 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.411_412insT (p.Gly138fs) |
insertion |
Familial Mediterranean fever [RCV001911438] |
Chr16:3254656..3254657 [GRCh38]
Chr16:3304656..3304657 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.450del (p.Arg151fs) |
deletion |
Familial Mediterranean fever [RCV002003334] |
Chr16:3254618 [GRCh38]
Chr16:3304618 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NC_000016.9:g.(?_3293141)_(3297266_?)del |
deletion |
Familial Mediterranean fever [RCV001913553] |
Chr16:3293141..3297266 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.759G>A (p.Ala253=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001954237] |
Chr16:3254309 [GRCh38]
Chr16:3304309 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.608T>C (p.Leu203Pro) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126070]|Autoinflammatory syndrome [RCV002264442]|Familial Mediterranean fever [RCV001995528]|Familial Mediterranean fever, autosomal dominant [RCV003126069] |
Chr16:3254460 [GRCh38]
Chr16:3304460 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.2020A>G (p.Ile674Val) |
single nucleotide variant |
Familial Mediterranean fever [RCV002037167]|Inborn genetic diseases [RCV002545287] |
Chr16:3243467 [GRCh38]
Chr16:3293467 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1383G>A (p.Arg461=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001941901] |
Chr16:3247220 [GRCh38]
Chr16:3297220 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1265A>G (p.Lys422Arg) |
single nucleotide variant |
Familial Mediterranean fever [RCV001886764] |
Chr16:3249000 [GRCh38]
Chr16:3299000 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1942T>C (p.Phe648Leu) |
single nucleotide variant |
Familial Mediterranean fever [RCV001942812] |
Chr16:3243545 [GRCh38]
Chr16:3293545 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.181T>A (p.Tyr61Asn) |
single nucleotide variant |
Familial Mediterranean fever [RCV001954863] |
Chr16:3256407 [GRCh38]
Chr16:3306407 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1552G>A (p.Ala518Thr) |
single nucleotide variant |
Familial Mediterranean fever [RCV001961563] |
Chr16:3247051 [GRCh38]
Chr16:3297051 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.410del (p.Gly137fs) |
deletion |
Acute febrile neutrophilic dermatosis [RCV003125988]|Familial Mediterranean fever [RCV001943568]|Familial Mediterranean fever [RCV002484549]|Familial Mediterranean fever, autosomal dominant [RCV003125987] |
Chr16:3254658 [GRCh38]
Chr16:3304658 [GRCh37]
Chr16:16p13.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.1793-2A>C |
single nucleotide variant |
Familial Mediterranean fever [RCV001995793] |
Chr16:3243696 [GRCh38]
Chr16:3293696 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NC_000016.9:g.(?_3293141)_(3929917_?)del |
deletion |
Rubinstein-Taybi syndrome [RCV001950905] |
Chr16:3293141..3929917 [GRCh37]
Chr16:16p13.3 |
pathogenic |
| NM_000243.3(MEFV):c.367C>G (p.His123Asp) |
single nucleotide variant |
Familial Mediterranean fever [RCV001901056] |
Chr16:3254701 [GRCh38]
Chr16:3304701 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.392G>A (p.Gly131Asp) |
single nucleotide variant |
Familial Mediterranean fever [RCV001957920] |
Chr16:3254676 [GRCh38]
Chr16:3304676 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2121C>T (p.Thr707=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001953570] |
Chr16:3243366 [GRCh38]
Chr16:3293366 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.688G>T (p.Glu230Ter) |
single nucleotide variant |
Familial Mediterranean fever [RCV001881388] |
Chr16:3254380 [GRCh38]
Chr16:3304380 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1685A>G (p.Gln562Arg) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126050]|Familial Mediterranean fever [RCV001990757]|Familial Mediterranean fever [RCV002507721]|Familial Mediterranean fever, autosomal dominant [RCV003126049] |
Chr16:3244514 [GRCh38]
Chr16:3294514 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.2066G>T (p.Trp689Leu) |
single nucleotide variant |
Familial Mediterranean fever [RCV002011506] |
Chr16:3243421 [GRCh38]
Chr16:3293421 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.985C>T (p.Arg329Cys) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003125954]|Familial Mediterranean fever [RCV001897894]|Familial Mediterranean fever [RCV002482663]|Familial Mediterranean fever, autosomal dominant [RCV003125953] |
Chr16:3249706 [GRCh38]
Chr16:3299706 [GRCh37]
Chr16:16p13.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.1229G>A (p.Arg410His) |
single nucleotide variant |
Familial Mediterranean fever [RCV001959780]|not specified [RCV003323957] |
Chr16:3249462 [GRCh38]
Chr16:3299462 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2078T>C (p.Met693Thr) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126062]|Familial Mediterranean fever [RCV001974306]|Familial Mediterranean fever [RCV002492214]|Familial Mediterranean fever, autosomal dominant [RCV003126061] |
Chr16:3243409 [GRCh38]
Chr16:3293409 [GRCh37]
Chr16:16p13.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.2045dup (p.Ser683fs) |
duplication |
Familial Mediterranean fever [RCV001935450]|not provided [RCV003223738] |
Chr16:3243441..3243442 [GRCh38]
Chr16:3293441..3293442 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1108dup (p.Gln370fs) |
duplication |
Familial Mediterranean fever [RCV002017231] |
Chr16:3249582..3249583 [GRCh38]
Chr16:3299582..3299583 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.744_745delinsCT (p.Thr249Ser) |
indel |
Familial Mediterranean fever [RCV001997785] |
Chr16:3254323..3254324 [GRCh38]
Chr16:3304323..3304324 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.790G>A (p.Glu264Lys) |
single nucleotide variant |
Familial Mediterranean fever [RCV002011109] |
Chr16:3254278 [GRCh38]
Chr16:3304278 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.718C>T (p.Pro240Ser) |
single nucleotide variant |
Familial Mediterranean fever [RCV001992040] |
Chr16:3254350 [GRCh38]
Chr16:3304350 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.108G>A (p.Glu36=) |
single nucleotide variant |
Familial Mediterranean fever [RCV001960785] |
Chr16:3256480 [GRCh38]
Chr16:3306480 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.340A>C (p.Lys114Gln) |
single nucleotide variant |
Familial Mediterranean fever [RCV001920275] |
Chr16:3254728 [GRCh38]
Chr16:3304728 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1991C>T (p.Ala664Val) |
single nucleotide variant |
Familial Mediterranean fever [RCV002028045] |
Chr16:3243496 [GRCh38]
Chr16:3293496 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NC_000016.9:g.(?_256302)_(5971108_?)dup |
duplication |
Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] |
Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.401C>T (p.Pro134Leu) |
single nucleotide variant |
Familial Mediterranean fever [RCV001956916] |
Chr16:3254667 [GRCh38]
Chr16:3304667 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1664A>C (p.Gln555Pro) |
single nucleotide variant |
Familial Mediterranean fever [RCV001881680] |
Chr16:3244535 [GRCh38]
Chr16:3294535 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2236T>G (p.Cys746Gly) |
single nucleotide variant |
Familial Mediterranean fever [RCV001880764] |
Chr16:3243251 [GRCh38]
Chr16:3293251 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.910+20A>G |
single nucleotide variant |
Familial Mediterranean fever [RCV002146479] |
Chr16:3254138 [GRCh38]
Chr16:3304138 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.278-12T>C |
single nucleotide variant |
Familial Mediterranean fever [RCV002112485] |
Chr16:3254802 [GRCh38]
Chr16:3304802 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2208C>T (p.Ala736=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002210428] |
Chr16:3243279 [GRCh38]
Chr16:3293279 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.453G>A (p.Arg151=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002104492] |
Chr16:3254615 [GRCh38]
Chr16:3304615 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1386G>A (p.Val462=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002074998] |
Chr16:3247217 [GRCh38]
Chr16:3297217 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1389G>A (p.Gln463=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002188096] |
Chr16:3247214 [GRCh38]
Chr16:3297214 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1760-8C>A |
single nucleotide variant |
Familial Mediterranean fever [RCV002149069] |
Chr16:3243900 [GRCh38]
Chr16:3293900 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1494T>C (p.Tyr498=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002088243] |
Chr16:3247109 [GRCh38]
Chr16:3297109 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.277+7G>A |
single nucleotide variant |
Familial Mediterranean fever [RCV002209741] |
Chr16:3256304 [GRCh38]
Chr16:3306304 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1944C>T (p.Phe648=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002208395] |
Chr16:3243543 [GRCh38]
Chr16:3293543 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1760-123A>G |
single nucleotide variant |
not provided [RCV002211338] |
Chr16:3244015 [GRCh38]
Chr16:3294015 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.366C>T (p.Asp122=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002185405] |
Chr16:3254702 [GRCh38]
Chr16:3304702 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1261-14T>C |
single nucleotide variant |
Familial Mediterranean fever [RCV002192426] |
Chr16:3249018 [GRCh38]
Chr16:3299018 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.63C>T (p.Phe21=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002208690] |
Chr16:3256525 [GRCh38]
Chr16:3306525 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.690A>G (p.Glu230=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002167068] |
Chr16:3254378 [GRCh38]
Chr16:3304378 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1182C>T (p.Ile394=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002109055] |
Chr16:3249509 [GRCh38]
Chr16:3299509 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.546G>A (p.Leu182=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002074659] |
Chr16:3254522 [GRCh38]
Chr16:3304522 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1821T>C (p.Ala607=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002169019] |
Chr16:3243666 [GRCh38]
Chr16:3293666 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1727-7A>G |
single nucleotide variant |
Familial Mediterranean fever [RCV002111379] |
Chr16:3244293 [GRCh38]
Chr16:3294293 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.858G>C (p.Gly286=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002172500] |
Chr16:3254210 [GRCh38]
Chr16:3304210 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.277+9G>A |
single nucleotide variant |
Familial Mediterranean fever [RCV002213433] |
Chr16:3256302 [GRCh38]
Chr16:3306302 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1760-19A>G |
single nucleotide variant |
Familial Mediterranean fever [RCV002080193] |
Chr16:3243911 [GRCh38]
Chr16:3293911 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1759+15A>G |
single nucleotide variant |
Familial Mediterranean fever [RCV002131479] |
Chr16:3244239 [GRCh38]
Chr16:3294239 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1698T>C (p.Phe566=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002087950] |
Chr16:3244501 [GRCh38]
Chr16:3294501 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1218C>T (p.Gly406=) |
single nucleotide variant |
not provided [RCV002211339] |
Chr16:3249473 [GRCh38]
Chr16:3299473 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1760-87T>A |
single nucleotide variant |
Familial Mediterranean fever [RCV002194190] |
Chr16:3243979 [GRCh38]
Chr16:3293979 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1854G>A (p.Lys618=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002175057] |
Chr16:3243633 [GRCh38]
Chr16:3293633 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1610+20T>C |
single nucleotide variant |
Familial Mediterranean fever [RCV002130945] |
Chr16:3246505 [GRCh38]
Chr16:3296505 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.426G>C (p.Leu142=) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126159]|Familial Mediterranean fever [RCV002113550]|Familial Mediterranean fever [RCV002499997]|Familial Mediterranean fever, autosomal dominant [RCV003126158] |
Chr16:3254642 [GRCh38]
Chr16:3304642 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.717A>T (p.Arg239=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002216040] |
Chr16:3254351 [GRCh38]
Chr16:3304351 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2097C>T (p.Tyr699=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002092363] |
Chr16:3243390 [GRCh38]
Chr16:3293390 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1357-9G>T |
single nucleotide variant |
Familial Mediterranean fever [RCV002113385] |
Chr16:3247255 [GRCh38]
Chr16:3297255 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.645G>A (p.Gly215=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002214017] |
Chr16:3254423 [GRCh38]
Chr16:3304423 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2031A>G (p.Lys677=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002093781] |
Chr16:3243456 [GRCh38]
Chr16:3293456 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.180C>T (p.Tyr60=) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126198]|Familial Mediterranean fever [RCV002195681]|Familial Mediterranean fever, autosomal dominant [RCV003126197]|Inborn genetic diseases [RCV002409611] |
Chr16:3256408 [GRCh38]
Chr16:3306408 [GRCh37]
Chr16:16p13.3 |
benign|likely benign |
| NM_000243.3(MEFV):c.1119A>G (p.Pro373=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002168405] |
Chr16:3249572 [GRCh38]
Chr16:3299572 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1443G>C (p.Val481=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002153456] |
Chr16:3247160 [GRCh38]
Chr16:3297160 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.762C>G (p.Pro254=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002076274] |
Chr16:3254306 [GRCh38]
Chr16:3304306 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1371G>A (p.Ala457=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002214743] |
Chr16:3247232 [GRCh38]
Chr16:3297232 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.933G>A (p.Ala311=) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126200]|Familial Mediterranean fever [RCV002208387]|Familial Mediterranean fever [RCV002502028]|Familial Mediterranean fever, autosomal dominant [RCV003126199] |
Chr16:3249758 [GRCh38]
Chr16:3299758 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.330G>C (p.Leu110=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002187717] |
Chr16:3254738 [GRCh38]
Chr16:3304738 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2121C>G (p.Thr707=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002132821] |
Chr16:3243366 [GRCh38]
Chr16:3293366 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1107C>G (p.Pro369=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002151437] |
Chr16:3249584 [GRCh38]
Chr16:3299584 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2055G>A (p.Glu685=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002194559] |
Chr16:3243432 [GRCh38]
Chr16:3293432 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.570C>A (p.Pro190=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002094479] |
Chr16:3254498 [GRCh38]
Chr16:3304498 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.318G>A (p.Ala106=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002210820] |
Chr16:3254750 [GRCh38]
Chr16:3304750 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1431G>A (p.Glu477=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002136979] |
Chr16:3247172 [GRCh38]
Chr16:3297172 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.981T>C (p.Cys327=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002177156] |
Chr16:3249710 [GRCh38]
Chr16:3299710 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1260+15C>A |
single nucleotide variant |
Familial Mediterranean fever [RCV002178768] |
Chr16:3249416 [GRCh38]
Chr16:3299416 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1485G>A (p.Arg495=) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126183]|Familial Mediterranean fever [RCV002137932]|Familial Mediterranean fever, autosomal dominant [RCV003126182]|Inborn genetic diseases [RCV002391317] |
Chr16:3247118 [GRCh38]
Chr16:3297118 [GRCh37]
Chr16:16p13.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000243.3(MEFV):c.702C>T (p.Pro234=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002216495] |
Chr16:3254366 [GRCh38]
Chr16:3304366 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2115C>G (p.Pro705=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002182734] |
Chr16:3243372 [GRCh38]
Chr16:3293372 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1724C>G (p.Ser575Ter) |
single nucleotide variant |
Hyperpigmentation of the skin [RCV002244293] |
Chr16:3244475 [GRCh38]
Chr16:3294475 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.277+11C>G |
single nucleotide variant |
Familial Mediterranean fever [RCV002159941] |
Chr16:3256300 [GRCh38]
Chr16:3306300 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.278-15T>C |
single nucleotide variant |
Familial Mediterranean fever [RCV002160169] |
Chr16:3254805 [GRCh38]
Chr16:3304805 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.129C>T (p.Ser43=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002163690] |
Chr16:3256459 [GRCh38]
Chr16:3306459 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1450C>T (p.Leu484=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002081861] |
Chr16:3247153 [GRCh38]
Chr16:3297153 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.894A>G (p.Pro298=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002120641] |
Chr16:3254174 [GRCh38]
Chr16:3304174 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1727-9A>G |
single nucleotide variant |
Familial Mediterranean fever [RCV002162761] |
Chr16:3244295 [GRCh38]
Chr16:3294295 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.648G>A (p.Leu216=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002119262] |
Chr16:3254420 [GRCh38]
Chr16:3304420 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1261-10G>C |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264467]|Familial Mediterranean fever [RCV002121853] |
Chr16:3249014 [GRCh38]
Chr16:3299014 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1416C>T (p.Phe472=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002176234] |
Chr16:3247187 [GRCh38]
Chr16:3297187 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1203T>C (p.Ser401=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002157183] |
Chr16:3249488 [GRCh38]
Chr16:3299488 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1329T>C (p.Tyr443=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002122420] |
Chr16:3248936 [GRCh38]
Chr16:3298936 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.510C>T (p.Asp170=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002099321] |
Chr16:3254558 [GRCh38]
Chr16:3304558 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.747A>G (p.Thr249=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002180221] |
Chr16:3254321 [GRCh38]
Chr16:3304321 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1727-12C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV002162471] |
Chr16:3244298 [GRCh38]
Chr16:3294298 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1506_1507dup (p.Ser503fs) |
duplication |
Familial Mediterranean fever [RCV002222938] |
Chr16:3247095..3247096 [GRCh38]
Chr16:3297095..3297096 [GRCh37]
Chr16:16p13.3 |
likely pathogenic |
| NM_000243.3(MEFV):c.277+20C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV002158980] |
Chr16:3256291 [GRCh38]
Chr16:3306291 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.204G>A (p.Gln68=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002138793] |
Chr16:3256384 [GRCh38]
Chr16:3306384 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.612C>T (p.Arg204=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002216898] |
Chr16:3254456 [GRCh38]
Chr16:3304456 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.651G>A (p.Ala217=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002183724] |
Chr16:3254417 [GRCh38]
Chr16:3304417 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1836C>T (p.Ile612=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002082419] |
Chr16:3243651 [GRCh38]
Chr16:3293651 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NC_000016.9:g.(?_256302)_(4852572_?)dup |
duplication |
Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] |
Chr16:256302..4852572 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1760-13T>C |
single nucleotide variant |
Familial Mediterranean fever [RCV003110655] |
Chr16:3243905 [GRCh38]
Chr16:3293905 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NC_000016.9:g.(?_3293141)_(5971108_?)dup |
duplication |
Rubinstein-Taybi syndrome [RCV003113465] |
Chr16:3293141..5971108 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.429G>A (p.Arg143=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003112665] |
Chr16:3254639 [GRCh38]
Chr16:3304639 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.498G>A (p.Ser166=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003117136] |
Chr16:3254570 [GRCh38]
Chr16:3304570 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1104C>T (p.Ser368=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003112817] |
Chr16:3249587 [GRCh38]
Chr16:3299587 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.268_271del (p.Ala90fs) |
deletion |
Familial Mediterranean fever [RCV003117281] |
Chr16:3256317..3256320 [GRCh38]
Chr16:3306317..3306320 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.683C>T (p.Pro228Leu) |
single nucleotide variant |
Familial Mediterranean fever [RCV003117877]|MEFV-related condition [RCV003396892] |
Chr16:3254385 [GRCh38]
Chr16:3304385 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1089C>A (p.Ser363Arg) |
single nucleotide variant |
not provided [RCV003120135] |
Chr16:3249602 [GRCh38]
Chr16:3299602 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1519G>A (p.Ala507Thr) |
single nucleotide variant |
not provided [RCV003120196] |
Chr16:3247084 [GRCh38]
Chr16:3297084 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1727-2A>G |
single nucleotide variant |
not specified [RCV003123376] |
Chr16:3244288 [GRCh38]
Chr16:3294288 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NC_000016.9:g.(?_3293141)_(3294608_?)del |
deletion |
Familial Mediterranean fever [RCV003122220] |
Chr16:3293141..3294608 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NC_000016.9:g.(?_3306291)_(3306587_?)dup |
duplication |
Familial Mediterranean fever [RCV003122221] |
Chr16:3306291..3306587 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1727-2A>C |
single nucleotide variant |
not specified [RCV003230898] |
Chr16:3244288 [GRCh38]
Chr16:3294288 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.298G>C (p.Gly100Arg) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003126209]|Autoinflammatory syndrome [RCV002262060]|Familial Mediterranean fever [RCV002502075]|Familial Mediterranean fever [RCV003095938]|Familial Mediterranean fever, autosomal dominant [RCV003126208] |
Chr16:3254770 [GRCh38]
Chr16:3304770 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.911-8G>A |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262069] |
Chr16:3249788 [GRCh38]
Chr16:3299788 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.253_254delinsAT (p.Glu85Met) |
indel |
not provided [RCV002276392] |
Chr16:3256334..3256335 [GRCh38]
Chr16:3306334..3306335 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.409G>A (p.Gly137Ser) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262065]|Familial Mediterranean fever [RCV003095939] |
Chr16:3254659 [GRCh38]
Chr16:3304659 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2230G>A (p.Ala744Thr) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262056] |
Chr16:3243257 [GRCh38]
Chr16:3293257 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2318G>A (p.Cys773Tyr) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262057] |
Chr16:3243169 [GRCh38]
Chr16:3293169 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.238C>T (p.Arg80Cys) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262058]|Familial Mediterranean fever [RCV003095937] |
Chr16:3256350 [GRCh38]
Chr16:3306350 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.390C>T (p.Asn130=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262063]|Familial Mediterranean fever [RCV003774818] |
Chr16:3254678 [GRCh38]
Chr16:3304678 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.397C>A (p.Arg133=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262064] |
Chr16:3254671 [GRCh38]
Chr16:3304671 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.619G>T (p.Ala207Ser) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262067] |
Chr16:3254449 [GRCh38]
Chr16:3304449 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1900C>T (p.Gln634Ter) |
single nucleotide variant |
not provided [RCV002276020] |
Chr16:3243587 [GRCh38]
Chr16:3293587 [GRCh37]
Chr16:16p13.3 |
likely pathogenic |
| NM_000243.3(MEFV):c.1420_1422delinsAAA (p.Glu474Lys) |
indel |
not provided [RCV002276021] |
Chr16:3247181..3247183 [GRCh38]
Chr16:3297181..3297183 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.656dup (p.Ala220fs) |
duplication |
Autoinflammatory syndrome [RCV002262068] |
Chr16:3254411..3254412 [GRCh38]
Chr16:3304411..3304412 [GRCh37]
Chr16:16p13.3 |
likely pathogenic |
| GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 |
copy number gain |
See cases [RCV002292215] |
Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3 |
pathogenic |
| NM_000243.3(MEFV):c.1151T>A (p.Leu384Gln) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262053] |
Chr16:3249540 [GRCh38]
Chr16:3299540 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.243G>A (p.Leu81=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262059] |
Chr16:3256345 [GRCh38]
Chr16:3306345 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.380A>G (p.Asn127Ser) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262062] |
Chr16:3254688 [GRCh38]
Chr16:3304688 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.586G>A (p.Gly196Arg) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262066] |
Chr16:3254482 [GRCh38]
Chr16:3304482 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.662C>T (p.Pro221Leu) |
single nucleotide variant |
not specified [RCV002266254] |
Chr16:3254406 [GRCh38]
Chr16:3304406 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1321C>T (p.Arg441Ter) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262054] |
Chr16:3248944 [GRCh38]
Chr16:3298944 [GRCh37]
Chr16:16p13.3 |
likely pathogenic |
| NM_000243.3(MEFV):c.368A>T (p.His123Leu) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262061] |
Chr16:3254700 [GRCh38]
Chr16:3304700 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.920C>G (p.Pro307Arg) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262070] |
Chr16:3249771 [GRCh38]
Chr16:3299771 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1429G>A (p.Glu477Lys) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262055] |
Chr16:3247174 [GRCh38]
Chr16:3297174 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1883G>A (p.Arg628Lys) |
single nucleotide variant |
not specified [RCV002282816] |
Chr16:3243604 [GRCh38]
Chr16:3293604 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.505del (p.Leu169fs) |
deletion |
not provided [RCV002285951] |
Chr16:3254563 [GRCh38]
Chr16:3304563 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.163A>G (p.Thr55Ala) |
single nucleotide variant |
Familial Mediterranean fever [RCV002297652] |
Chr16:3256425 [GRCh38]
Chr16:3306425 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.*9C>G |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262052] |
Chr16:3243132 [GRCh38]
Chr16:3293132 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.693G>T (p.Val231=) |
single nucleotide variant |
not provided [RCV002262503] |
Chr16:3254375 [GRCh38]
Chr16:3304375 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.38T>A (p.Leu13Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002366404] |
Chr16:3256550 [GRCh38]
Chr16:3306550 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.663G>A (p.Pro221=) |
single nucleotide variant |
Inborn genetic diseases [RCV002366786] |
Chr16:3254405 [GRCh38]
Chr16:3304405 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1694A>G (p.Glu565Gly) |
single nucleotide variant |
Familial Mediterranean fever [RCV003100792]|Inborn genetic diseases [RCV002414655] |
Chr16:3244505 [GRCh38]
Chr16:3294505 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1556A>T (p.Lys519Met) |
single nucleotide variant |
not specified [RCV002469959] |
Chr16:3247047 [GRCh38]
Chr16:3297047 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.166C>T (p.Leu56=) |
single nucleotide variant |
Inborn genetic diseases [RCV002403971] |
Chr16:3256422 [GRCh38]
Chr16:3306422 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1945C>T (p.Leu649Phe) |
single nucleotide variant |
not specified [RCV003230897] |
Chr16:3243542 [GRCh38]
Chr16:3293542 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1651C>G (p.Gln551Glu) |
single nucleotide variant |
Familial Mediterranean fever [RCV002304770] |
Chr16:3244548 [GRCh38]
Chr16:3294548 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1757A>G (p.Asn586Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002401614] |
Chr16:3244256 [GRCh38]
Chr16:3294256 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.292G>A (p.Glu98Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002440042] |
Chr16:3254776 [GRCh38]
Chr16:3304776 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1491A>G (p.Ala497=) |
single nucleotide variant |
Inborn genetic diseases [RCV002389698] |
Chr16:3247112 [GRCh38]
Chr16:3297112 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2189C>G (p.Ser730Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002425529] |
Chr16:3243298 [GRCh38]
Chr16:3293298 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1620A>G (p.Thr540=) |
single nucleotide variant |
Inborn genetic diseases [RCV002401056] |
Chr16:3244579 [GRCh38]
Chr16:3294579 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.819G>T (p.Ser273=) |
single nucleotide variant |
Inborn genetic diseases [RCV002427891] |
Chr16:3254249 [GRCh38]
Chr16:3304249 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2078TGA[3] (p.Met694_Lys695insMet) |
microsatellite |
Inborn genetic diseases [RCV002423875] |
Chr16:3243403..3243404 [GRCh38]
Chr16:3293403..3293404 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.735C>T (p.Val245=) |
single nucleotide variant |
Inborn genetic diseases [RCV002380288] |
Chr16:3254333 [GRCh38]
Chr16:3304333 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1850T>G (p.Leu617Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002413012]|not provided [RCV003418517] |
Chr16:3243637 [GRCh38]
Chr16:3293637 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.548C>G (p.Pro183Arg) |
single nucleotide variant |
Familial Mediterranean fever [RCV002616654] |
Chr16:3254520 [GRCh38]
Chr16:3304520 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.63C>G (p.Phe21Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002905414] |
Chr16:3256525 [GRCh38]
Chr16:3306525 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1327T>A (p.Tyr443Asn) |
single nucleotide variant |
Familial Mediterranean fever [RCV003073770] |
Chr16:3248938 [GRCh38]
Chr16:3298938 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.513G>A (p.Ala171=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003073643] |
Chr16:3254555 [GRCh38]
Chr16:3304555 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.847C>G (p.Pro283Ala) |
single nucleotide variant |
Familial Mediterranean fever [RCV003095820] |
Chr16:3254221 [GRCh38]
Chr16:3304221 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1026C>T (p.Pro342=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003034988] |
Chr16:3249665 [GRCh38]
Chr16:3299665 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2085G>A (p.Lys695=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003074787] |
Chr16:3243402 [GRCh38]
Chr16:3293402 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.63C>A (p.Phe21Leu) |
single nucleotide variant |
Familial Mediterranean fever [RCV002780154] |
Chr16:3256525 [GRCh38]
Chr16:3306525 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1955G>A (p.Arg652His) |
single nucleotide variant |
Familial Mediterranean fever [RCV002972608] |
Chr16:3243532 [GRCh38]
Chr16:3293532 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.749G>C (p.Gly250Ala) |
single nucleotide variant |
Familial Mediterranean fever [RCV003075986] |
Chr16:3254319 [GRCh38]
Chr16:3304319 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1017T>C (p.Ser339=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003076582] |
Chr16:3249674 [GRCh38]
Chr16:3299674 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.264G>A (p.Arg88=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003016415] |
Chr16:3256324 [GRCh38]
Chr16:3306324 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1261-16A>C |
single nucleotide variant |
Familial Mediterranean fever [RCV003097478] |
Chr16:3249020 [GRCh38]
Chr16:3299020 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.54C>T (p.Pro18=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002681567] |
Chr16:3256534 [GRCh38]
Chr16:3306534 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.911-11C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV002686025] |
Chr16:3249791 [GRCh38]
Chr16:3299791 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.324C>T (p.Ser108=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002750814] |
Chr16:3254744 [GRCh38]
Chr16:3304744 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.330G>T (p.Leu110=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002862818] |
Chr16:3254738 [GRCh38]
Chr16:3304738 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.831C>A (p.Pro277=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003015580] |
Chr16:3254237 [GRCh38]
Chr16:3304237 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.485G>A (p.Arg162Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002816848] |
Chr16:3254583 [GRCh38]
Chr16:3304583 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.567C>G (p.Gly189=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002881556] |
Chr16:3254501 [GRCh38]
Chr16:3304501 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1006G>A (p.Glu336Lys) |
single nucleotide variant |
not provided [RCV002462474] |
Chr16:3249685 [GRCh38]
Chr16:3299685 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1034C>T (p.Ser345Leu) |
single nucleotide variant |
Familial Mediterranean fever [RCV002947523] |
Chr16:3249657 [GRCh38]
Chr16:3299657 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1308_1309del (p.Glu438fs) |
deletion |
Familial Mediterranean fever [RCV002903423] |
Chr16:3248956..3248957 [GRCh38]
Chr16:3298956..3298957 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.222G>A (p.Leu74=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002976173] |
Chr16:3256366 [GRCh38]
Chr16:3306366 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.243G>T (p.Leu81=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002786079] |
Chr16:3256345 [GRCh38]
Chr16:3306345 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.868G>A (p.Asp290Asn) |
single nucleotide variant |
Familial Mediterranean fever [RCV002800304] |
Chr16:3254200 [GRCh38]
Chr16:3304200 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1164G>A (p.Glu388=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002571848] |
Chr16:3249527 [GRCh38]
Chr16:3299527 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.61T>C (p.Phe21Leu) |
single nucleotide variant |
Familial Mediterranean fever [RCV003038257] |
Chr16:3256527 [GRCh38]
Chr16:3306527 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1610+10G>A |
single nucleotide variant |
Familial Mediterranean fever [RCV002690835] |
Chr16:3246515 [GRCh38]
Chr16:3296515 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.278-20G>T |
single nucleotide variant |
Familial Mediterranean fever [RCV003079572] |
Chr16:3254810 [GRCh38]
Chr16:3304810 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1759+14T>C |
single nucleotide variant |
Familial Mediterranean fever [RCV002705775] |
Chr16:3244240 [GRCh38]
Chr16:3294240 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.27G>A (p.Leu9=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002824125] |
Chr16:3256561 [GRCh38]
Chr16:3306561 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.721A>G (p.Arg241Gly) |
single nucleotide variant |
Familial Mediterranean fever [RCV003054094] |
Chr16:3254347 [GRCh38]
Chr16:3304347 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1381C>T (p.Arg461Trp) |
single nucleotide variant |
Familial Mediterranean fever [RCV002949636] |
Chr16:3247222 [GRCh38]
Chr16:3297222 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1141C>G (p.Gln381Glu) |
single nucleotide variant |
Familial Mediterranean fever [RCV002736661] |
Chr16:3249550 [GRCh38]
Chr16:3299550 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.778C>A (p.Leu260Ile) |
single nucleotide variant |
Familial Mediterranean fever [RCV003018597] |
Chr16:3254290 [GRCh38]
Chr16:3304290 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.903G>T (p.Ser301=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002659356] |
Chr16:3254165 [GRCh38]
Chr16:3304165 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1019G>A (p.Gly340Glu) |
single nucleotide variant |
Familial Mediterranean fever [RCV003000214] |
Chr16:3249672 [GRCh38]
Chr16:3299672 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1431G>T (p.Glu477Asp) |
single nucleotide variant |
Familial Mediterranean fever [RCV003036399] |
Chr16:3247172 [GRCh38]
Chr16:3297172 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1611-19A>G |
single nucleotide variant |
Familial Mediterranean fever [RCV002695642] |
Chr16:3244607 [GRCh38]
Chr16:3294607 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1248C>T (p.Ala416=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002926664] |
Chr16:3249443 [GRCh38]
Chr16:3299443 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1318C>A (p.Gln440Lys) |
single nucleotide variant |
Familial Mediterranean fever [RCV003054711] |
Chr16:3248947 [GRCh38]
Chr16:3298947 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1260+7A>C |
single nucleotide variant |
Familial Mediterranean fever [RCV002796406] |
Chr16:3249424 [GRCh38]
Chr16:3299424 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.474G>C (p.Leu158=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002847956] |
Chr16:3254594 [GRCh38]
Chr16:3304594 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2064C>T (p.Tyr688=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002761598] |
Chr16:3243423 [GRCh38]
Chr16:3293423 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1260+8C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV002847387] |
Chr16:3249423 [GRCh38]
Chr16:3299423 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.182A>G (p.Tyr61Cys) |
single nucleotide variant |
Familial Mediterranean fever [RCV002592404] |
Chr16:3256406 [GRCh38]
Chr16:3306406 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.10A>G (p.Thr4Ala) |
single nucleotide variant |
Familial Mediterranean fever [RCV003037680] |
Chr16:3256578 [GRCh38]
Chr16:3306578 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.939C>T (p.Pro313=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003021394] |
Chr16:3249752 [GRCh38]
Chr16:3299752 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.525T>G (p.Pro175=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002824561] |
Chr16:3254543 [GRCh38]
Chr16:3304543 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.252G>C (p.Glu84Asp) |
single nucleotide variant |
Familial Mediterranean fever [RCV002592115] |
Chr16:3256336 [GRCh38]
Chr16:3306336 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1610+5_1610+6insACCT |
insertion |
Familial Mediterranean fever [RCV002706707] |
Chr16:3246519..3246520 [GRCh38]
Chr16:3296519..3296520 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2266_2267insGAAT (p.Phe756Ter) |
insertion |
Familial Mediterranean fever [RCV002761586] |
Chr16:3243220..3243221 [GRCh38]
Chr16:3293220..3293221 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2160C>T (p.Ile720=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002805661] |
Chr16:3243327 [GRCh38]
Chr16:3293327 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1382G>C (p.Arg461Pro) |
single nucleotide variant |
Familial Mediterranean fever [RCV003024373] |
Chr16:3247221 [GRCh38]
Chr16:3297221 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1927C>T (p.Leu643=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002711980] |
Chr16:3243560 [GRCh38]
Chr16:3293560 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1141C>T (p.Gln381Ter) |
single nucleotide variant |
Familial Mediterranean fever [RCV002741814] |
Chr16:3249550 [GRCh38]
Chr16:3299550 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1398G>A (p.Leu466=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002853088] |
Chr16:3247205 [GRCh38]
Chr16:3297205 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1308A>G (p.Ser436=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002626285] |
Chr16:3248957 [GRCh38]
Chr16:3298957 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.481C>G (p.Arg161Gly) |
single nucleotide variant |
Familial Mediterranean fever [RCV002644317] |
Chr16:3254587 [GRCh38]
Chr16:3304587 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.343C>T (p.Pro115Ser) |
single nucleotide variant |
Familial Mediterranean fever [RCV003085007] |
Chr16:3254725 [GRCh38]
Chr16:3304725 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.760C>T (p.Pro254Ser) |
single nucleotide variant |
Familial Mediterranean fever [RCV002642438] |
Chr16:3254308 [GRCh38]
Chr16:3304308 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.315A>G (p.Ala105=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002894363] |
Chr16:3254753 [GRCh38]
Chr16:3304753 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.949G>A (p.Ala317Thr) |
single nucleotide variant |
Familial Mediterranean fever [RCV002574580] |
Chr16:3249742 [GRCh38]
Chr16:3299742 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.854G>C (p.Gly285Ala) |
single nucleotide variant |
Familial Mediterranean fever [RCV002593887] |
Chr16:3254214 [GRCh38]
Chr16:3304214 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1623G>A (p.Val541=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002642310] |
Chr16:3244576 [GRCh38]
Chr16:3294576 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.278-8C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV002663692] |
Chr16:3254798 [GRCh38]
Chr16:3304798 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.384G>A (p.Glu128=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003083850] |
Chr16:3254684 [GRCh38]
Chr16:3304684 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2124C>T (p.Arg708=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002800934] |
Chr16:3243363 [GRCh38]
Chr16:3293363 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.967G>C (p.Val323Leu) |
single nucleotide variant |
Familial Mediterranean fever [RCV003042003] |
Chr16:3249724 [GRCh38]
Chr16:3299724 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1290G>C (p.Leu430=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002890103] |
Chr16:3248975 [GRCh38]
Chr16:3298975 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.183T>C (p.Tyr61=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002597047] |
Chr16:3256405 [GRCh38]
Chr16:3306405 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2112T>C (p.Val704=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002801839] |
Chr16:3243375 [GRCh38]
Chr16:3293375 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1357-13C>G |
single nucleotide variant |
Familial Mediterranean fever [RCV002828570] |
Chr16:3247259 [GRCh38]
Chr16:3297259 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1760-1G>T |
single nucleotide variant |
Familial Mediterranean fever [RCV003042668] |
Chr16:3243893 [GRCh38]
Chr16:3293893 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1893T>C (p.Asp631=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003057346] |
Chr16:3243594 [GRCh38]
Chr16:3293594 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.587G>C (p.Gly196Ala) |
single nucleotide variant |
Familial Mediterranean fever [RCV003082639] |
Chr16:3254481 [GRCh38]
Chr16:3304481 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1563C>T (p.Cys521=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003085009] |
Chr16:3247040 [GRCh38]
Chr16:3297040 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1792+15C>A |
single nucleotide variant |
Familial Mediterranean fever [RCV002745242] |
Chr16:3243845 [GRCh38]
Chr16:3293845 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1969G>C (p.Val657Leu) |
single nucleotide variant |
Familial Mediterranean fever [RCV002643791] |
Chr16:3243518 [GRCh38]
Chr16:3293518 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2177T>G (p.Val726Gly) |
single nucleotide variant |
Familial Mediterranean fever [RCV002829546] |
Chr16:3243310 [GRCh38]
Chr16:3293310 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.321C>T (p.Ser107=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002745474] |
Chr16:3254747 [GRCh38]
Chr16:3304747 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1030G>T (p.Ala344Ser) |
single nucleotide variant |
Familial Mediterranean fever [RCV002596213] |
Chr16:3249661 [GRCh38]
Chr16:3299661 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.965C>G (p.Pro322Arg) |
single nucleotide variant |
Familial Mediterranean fever [RCV003007332] |
Chr16:3249726 [GRCh38]
Chr16:3299726 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1239G>A (p.Glu413=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003058888] |
Chr16:3249452 [GRCh38]
Chr16:3299452 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.2164G>C (p.Val722Leu) |
single nucleotide variant |
Familial Mediterranean fever [RCV002625993] |
Chr16:3243323 [GRCh38]
Chr16:3293323 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.261C>T (p.His87=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002714914] |
Chr16:3256327 [GRCh38]
Chr16:3306327 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2226A>G (p.Thr742=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003092017] |
Chr16:3243261 [GRCh38]
Chr16:3293261 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1920C>T (p.Ile640=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003089962] |
Chr16:3243567 [GRCh38]
Chr16:3293567 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.278-11_278-9del |
deletion |
Familial Mediterranean fever [RCV002811591] |
Chr16:3254799..3254801 [GRCh38]
Chr16:3304799..3304801 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1611-4C>G |
single nucleotide variant |
Familial Mediterranean fever [RCV003060245] |
Chr16:3244592 [GRCh38]
Chr16:3294592 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1792+10C>G |
single nucleotide variant |
Familial Mediterranean fever [RCV002601708] |
Chr16:3243850 [GRCh38]
Chr16:3293850 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.523C>T (p.Pro175Ser) |
single nucleotide variant |
Familial Mediterranean fever [RCV003091979] |
Chr16:3254545 [GRCh38]
Chr16:3304545 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1846G>A (p.Asp616Asn) |
single nucleotide variant |
Familial Mediterranean fever [RCV003049158] |
Chr16:3243641 [GRCh38]
Chr16:3293641 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NC_000016.10:g.3256984G>C |
single nucleotide variant |
Familial Mediterranean fever [RCV002628502] |
Chr16:3256984 [GRCh38]
Chr16:3306984 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1376A>C (p.Lys459Thr) |
single nucleotide variant |
Familial Mediterranean fever [RCV002599046] |
Chr16:3247227 [GRCh38]
Chr16:3297227 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.451A>T (p.Arg151Trp) |
single nucleotide variant |
Familial Mediterranean fever [RCV003044830] |
Chr16:3254617 [GRCh38]
Chr16:3304617 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.363A>C (p.Pro121=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002746068] |
Chr16:3254705 [GRCh38]
Chr16:3304705 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.579G>T (p.Ala193=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002857642] |
Chr16:3254489 [GRCh38]
Chr16:3304489 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1026C>A (p.Pro342=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002856784] |
Chr16:3249665 [GRCh38]
Chr16:3299665 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.323G>C (p.Ser108Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002896639] |
Chr16:3254745 [GRCh38]
Chr16:3304745 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1412A>C (p.Tyr471Ser) |
single nucleotide variant |
Familial Mediterranean fever [RCV002714827] |
Chr16:3247191 [GRCh38]
Chr16:3297191 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.35C>T (p.Thr12Ile) |
single nucleotide variant |
Familial Mediterranean fever [RCV002963048] |
Chr16:3256553 [GRCh38]
Chr16:3306553 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1284G>T (p.Glu428Asp) |
single nucleotide variant |
Familial Mediterranean fever [RCV003089474] |
Chr16:3248981 [GRCh38]
Chr16:3298981 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1356+13del |
deletion |
Familial Mediterranean fever [RCV003029564] |
Chr16:3248896 [GRCh38]
Chr16:3298896 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1260+12C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV002900291] |
Chr16:3249419 [GRCh38]
Chr16:3299419 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1143G>A (p.Gln381=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002810530] |
Chr16:3249548 [GRCh38]
Chr16:3299548 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.882C>T (p.Gly294=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003090802] |
Chr16:3254186 [GRCh38]
Chr16:3304186 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2291G>C (p.Gly764Ala) |
single nucleotide variant |
Familial Mediterranean fever [RCV002627804] |
Chr16:3243196 [GRCh38]
Chr16:3293196 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.629C>G (p.Ala210Gly) |
single nucleotide variant |
Familial Mediterranean fever [RCV003087842] |
Chr16:3254439 [GRCh38]
Chr16:3304439 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.255G>A (p.Glu85=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002630821] |
Chr16:3256333 [GRCh38]
Chr16:3306333 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.278-5T>A |
single nucleotide variant |
Familial Mediterranean fever [RCV002627865] |
Chr16:3254795 [GRCh38]
Chr16:3304795 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1734G>A (p.Leu578=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003009796] |
Chr16:3244279 [GRCh38]
Chr16:3294279 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1426C>G (p.Gln476Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002897356] |
Chr16:3247177 [GRCh38]
Chr16:3297177 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1760-7_1760-6del |
microsatellite |
Familial Mediterranean fever [RCV002630115] |
Chr16:3243898..3243899 [GRCh38]
Chr16:3293898..3293899 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.718C>G (p.Pro240Ala) |
single nucleotide variant |
Familial Mediterranean fever [RCV003047715] |
Chr16:3254350 [GRCh38]
Chr16:3304350 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.910+17C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV002645918] |
Chr16:3254141 [GRCh38]
Chr16:3304141 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.303A>T (p.Thr101=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002599719] |
Chr16:3254765 [GRCh38]
Chr16:3304765 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1207G>A (p.Glu403Lys) |
single nucleotide variant |
Familial Mediterranean fever [RCV002581012] |
Chr16:3249484 [GRCh38]
Chr16:3299484 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1143G>C (p.Gln381His) |
single nucleotide variant |
Familial Mediterranean fever [RCV002811780] |
Chr16:3249548 [GRCh38]
Chr16:3299548 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.377G>A (p.Gly126Glu) |
single nucleotide variant |
Familial Mediterranean fever [RCV002672211] |
Chr16:3254691 [GRCh38]
Chr16:3304691 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1773T>C (p.Ile591=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003065475] |
Chr16:3243879 [GRCh38]
Chr16:3293879 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.687C>T (p.Phe229=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002580792] |
Chr16:3254381 [GRCh38]
Chr16:3304381 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.943T>C (p.Cys315Arg) |
single nucleotide variant |
Familial Mediterranean fever [RCV003052077] |
Chr16:3249748 [GRCh38]
Chr16:3299748 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2329G>C (p.Gly777Arg) |
single nucleotide variant |
Familial Mediterranean fever [RCV002676973] |
Chr16:3243158 [GRCh38]
Chr16:3293158 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1792+8C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV002721772] |
Chr16:3243852 [GRCh38]
Chr16:3293852 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.326C>T (p.Ser109Phe) |
single nucleotide variant |
Familial Mediterranean fever [RCV002605464]|not provided [RCV003130734] |
Chr16:3254742 [GRCh38]
Chr16:3304742 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.277+1G>A |
single nucleotide variant |
Familial Mediterranean fever [RCV002606381] |
Chr16:3256310 [GRCh38]
Chr16:3306310 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.908C>T (p.Thr303Ile) |
single nucleotide variant |
Familial Mediterranean fever [RCV002943521] |
Chr16:3254160 [GRCh38]
Chr16:3304160 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.74A>G (p.Lys25Arg) |
single nucleotide variant |
Familial Mediterranean fever [RCV002584840] |
Chr16:3256514 [GRCh38]
Chr16:3306514 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.787C>T (p.Leu263=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002607718] |
Chr16:3254281 [GRCh38]
Chr16:3304281 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1639T>C (p.Trp547Arg) |
single nucleotide variant |
Familial Mediterranean fever [RCV002585337] |
Chr16:3244560 [GRCh38]
Chr16:3294560 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.382G>A (p.Glu128Lys) |
single nucleotide variant |
Familial Mediterranean fever [RCV002606995] |
Chr16:3254686 [GRCh38]
Chr16:3304686 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.762C>T (p.Pro254=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002606105] |
Chr16:3254306 [GRCh38]
Chr16:3304306 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1268T>G (p.Ile423Ser) |
single nucleotide variant |
Familial Mediterranean fever [RCV003071261] |
Chr16:3248997 [GRCh38]
Chr16:3298997 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.633G>A (p.Gly211=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003052775] |
Chr16:3254435 [GRCh38]
Chr16:3304435 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1A>C (p.Met1Leu) |
single nucleotide variant |
Familial Mediterranean fever [RCV002633951] |
Chr16:3256587 [GRCh38]
Chr16:3306587 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1876T>A (p.Trp626Arg) |
single nucleotide variant |
not provided [RCV003222856] |
Chr16:3243611 [GRCh38]
Chr16:3293611 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.382G>C (p.Glu128Gln) |
single nucleotide variant |
not specified [RCV003324324] |
Chr16:3254686 [GRCh38]
Chr16:3304686 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1716G>A (p.Lys572=) |
single nucleotide variant |
Inborn genetic diseases [RCV003377778] |
Chr16:3244483 [GRCh38]
Chr16:3294483 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1588-2A>G |
single nucleotide variant |
Familial Mediterranean fever, autosomal dominant [RCV003461846] |
Chr16:3246549 [GRCh38]
Chr16:3296549 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1499C>T (p.Thr500Ile) |
single nucleotide variant |
Familial Mediterranean fever [RCV003604177] |
Chr16:3247104 [GRCh38]
Chr16:3297104 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.911-2117T>C |
single nucleotide variant |
not specified [RCV003391177] |
Chr16:3251897 [GRCh38]
Chr16:3301897 [GRCh37]
Chr16:16p13.3 |
benign |
| NM_000243.3(MEFV):c.2177T>A (p.Val726Asp) |
single nucleotide variant |
not specified [RCV003404962] |
Chr16:3243310 [GRCh38]
Chr16:3293310 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| GRCh37/hg19 16p13.3(chr16:2606711-3935836)x3 |
copy number gain |
not provided [RCV003485082] |
Chr16:2606711..3935836 [GRCh37]
Chr16:16p13.3 |
pathogenic |
| GRCh37/hg19 16p13.3(chr16:2643569-3716657)x3 |
copy number gain |
not provided [RCV003485084] |
Chr16:2643569..3716657 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.638T>C (p.Leu213Pro) |
single nucleotide variant |
Familial Mediterranean fever [RCV003448836] |
Chr16:3254430 [GRCh38]
Chr16:3304430 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| GRCh37/hg19 16p13.3(chr16:3282468-3467436)x1 |
copy number loss |
not provided [RCV003483258] |
Chr16:3282468..3467436 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.148C>G (p.Pro50Ala) |
single nucleotide variant |
not provided [RCV003488025] |
Chr16:3256440 [GRCh38]
Chr16:3306440 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.248C>T (p.Ala83Val) |
single nucleotide variant |
not provided [RCV003443902] |
Chr16:3256340 [GRCh38]
Chr16:3306340 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1261-10G>A |
single nucleotide variant |
Familial Mediterranean fever [RCV003880623] |
Chr16:3249014 [GRCh38]
Chr16:3299014 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.98T>G (p.Val33Gly) |
single nucleotide variant |
not provided [RCV003443272] |
Chr16:3256490 [GRCh38]
Chr16:3306490 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1895G>T (p.Gly632Val) |
single nucleotide variant |
not specified [RCV003388309] |
Chr16:3243592 [GRCh38]
Chr16:3293592 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1935T>A (p.Ser645=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003605540] |
Chr16:3243552 [GRCh38]
Chr16:3293552 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1793-14A>C |
single nucleotide variant |
Familial Mediterranean fever [RCV003606985] |
Chr16:3243708 [GRCh38]
Chr16:3293708 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1533G>C (p.Ala511=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003604414] |
Chr16:3247070 [GRCh38]
Chr16:3297070 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.549G>C (p.Pro183=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003604451] |
Chr16:3254519 [GRCh38]
Chr16:3304519 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1726+13G>A |
single nucleotide variant |
Familial Mediterranean fever [RCV003604425] |
Chr16:3244460 [GRCh38]
Chr16:3294460 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.954G>A (p.Gln318=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003606310] |
Chr16:3249737 [GRCh38]
Chr16:3299737 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1588-17C>G |
single nucleotide variant |
Familial Mediterranean fever [RCV003603232] |
Chr16:3246564 [GRCh38]
Chr16:3296564 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.657C>G (p.Gly219=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003606637] |
Chr16:3254411 [GRCh38]
Chr16:3304411 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1357-13C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV003606797] |
Chr16:3247259 [GRCh38]
Chr16:3297259 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1792+15C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV003606816] |
Chr16:3243845 [GRCh38]
Chr16:3293845 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1827C>A (p.Pro609=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003606850] |
Chr16:3243660 [GRCh38]
Chr16:3293660 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1759+7C>G |
single nucleotide variant |
Familial Mediterranean fever [RCV003606781] |
Chr16:3244247 [GRCh38]
Chr16:3294247 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.910+13C>G |
single nucleotide variant |
Familial Mediterranean fever [RCV003604661] |
Chr16:3254145 [GRCh38]
Chr16:3304145 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1221C>T (p.His407=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003605551] |
Chr16:3249470 [GRCh38]
Chr16:3299470 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.834G>A (p.Arg278=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003606619] |
Chr16:3254234 [GRCh38]
Chr16:3304234 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1230C>T (p.Arg410=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003606631] |
Chr16:3249461 [GRCh38]
Chr16:3299461 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1727-12C>G |
single nucleotide variant |
Familial Mediterranean fever [RCV003606708] |
Chr16:3244298 [GRCh38]
Chr16:3294298 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1356+14T>A |
single nucleotide variant |
Familial Mediterranean fever [RCV003828156] |
Chr16:3248895 [GRCh38]
Chr16:3298895 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1335G>A (p.Glu445=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003606610] |
Chr16:3248930 [GRCh38]
Chr16:3298930 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.799A>T (p.Thr267Ser) |
single nucleotide variant |
Familial Mediterranean fever [RCV003494490] |
Chr16:3254269 [GRCh38]
Chr16:3304269 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1638G>A (p.Lys546=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003606821] |
Chr16:3244561 [GRCh38]
Chr16:3294561 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.693G>C (p.Val231=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003606706] |
Chr16:3254375 [GRCh38]
Chr16:3304375 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2250G>A (p.Gly750=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003606777] |
Chr16:3243237 [GRCh38]
Chr16:3293237 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.911-18dup |
duplication |
Familial Mediterranean fever [RCV003606811] |
Chr16:3249797..3249798 [GRCh38]
Chr16:3299797..3299798 [GRCh37]
Chr16:16p13.3 |
benign |
| NM_000243.3(MEFV):c.2016A>T (p.Thr672=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003828394] |
Chr16:3243471 [GRCh38]
Chr16:3293471 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1759+9A>G |
single nucleotide variant |
Familial Mediterranean fever [RCV003879488] |
Chr16:3244245 [GRCh38]
Chr16:3294245 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.669G>A (p.Gln223=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003602602] |
Chr16:3254399 [GRCh38]
Chr16:3304399 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.153G>T (p.Val51=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003602631] |
Chr16:3256435 [GRCh38]
Chr16:3306435 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1524G>A (p.Leu508=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003602632] |
Chr16:3247079 [GRCh38]
Chr16:3297079 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1347G>A (p.Val449=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003602635] |
Chr16:3248918 [GRCh38]
Chr16:3298918 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.14dup (p.Pro5_Ser6insTer) |
duplication |
Familial Mediterranean fever [RCV003602649] |
Chr16:3256573..3256574 [GRCh38]
Chr16:3306573..3306574 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2068G>A (p.Val690Met) |
single nucleotide variant |
Familial Mediterranean fever [RCV003606802] |
Chr16:3243419 [GRCh38]
Chr16:3293419 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.211C>T (p.Leu71=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003604667] |
Chr16:3256377 [GRCh38]
Chr16:3306377 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1357-4C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV003606860] |
Chr16:3247250 [GRCh38]
Chr16:3297250 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1824C>T (p.Tyr608=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003606867] |
Chr16:3243663 [GRCh38]
Chr16:3293663 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1610+16G>C |
single nucleotide variant |
Familial Mediterranean fever [RCV003606877] |
Chr16:3246509 [GRCh38]
Chr16:3296509 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1086G>A (p.Lys362=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003825602] |
Chr16:3249605 [GRCh38]
Chr16:3299605 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1792+20C>G |
single nucleotide variant |
Familial Mediterranean fever [RCV003606894] |
Chr16:3243840 [GRCh38]
Chr16:3293840 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.126G>A (p.Arg42=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003604996] |
Chr16:3256462 [GRCh38]
Chr16:3306462 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1588-19T>G |
single nucleotide variant |
Familial Mediterranean fever [RCV003606964] |
Chr16:3246566 [GRCh38]
Chr16:3296566 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.597C>T (p.Ala199=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003606978] |
Chr16:3254471 [GRCh38]
Chr16:3304471 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.832C>A (p.Arg278=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003876238] |
Chr16:3254236 [GRCh38]
Chr16:3304236 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1629C>T (p.Val543=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003878319] |
Chr16:3244570 [GRCh38]
Chr16:3294570 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1004C>A (p.Pro335His) |
single nucleotide variant |
Familial Mediterranean fever [RCV003606986] |
Chr16:3249687 [GRCh38]
Chr16:3299687 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.910+18C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV003605590] |
Chr16:3254140 [GRCh38]
Chr16:3304140 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2283T>C (p.Arg761=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003606641] |
Chr16:3243204 [GRCh38]
Chr16:3293204 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2268C>T (p.Phe756=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003606684] |
Chr16:3243219 [GRCh38]
Chr16:3293219 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.210C>A (p.Thr70=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003602563] |
Chr16:3256378 [GRCh38]
Chr16:3306378 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1356+14T>C |
single nucleotide variant |
Familial Mediterranean fever [RCV003602567] |
Chr16:3248895 [GRCh38]
Chr16:3298895 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1122G>A (p.Gln374=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003604229] |
Chr16:3249569 [GRCh38]
Chr16:3299569 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1356+8C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV003606737] |
Chr16:3248901 [GRCh38]
Chr16:3298901 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.117G>A (p.Arg39=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003604969] |
Chr16:3256471 [GRCh38]
Chr16:3306471 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.126G>C (p.Arg42=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003879173] |
Chr16:3256462 [GRCh38]
Chr16:3306462 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.519C>G (p.Gly173=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003604994] |
Chr16:3254549 [GRCh38]
Chr16:3304549 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.582A>T (p.Leu194=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003605032] |
Chr16:3254486 [GRCh38]
Chr16:3304486 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1629C>G (p.Val543=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003605040] |
Chr16:3244570 [GRCh38]
Chr16:3294570 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2089A>C (p.Asn697His) |
single nucleotide variant |
Familial Mediterranean fever [RCV003605080] |
Chr16:3243398 [GRCh38]
Chr16:3293398 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.911-5C>A |
single nucleotide variant |
Familial Mediterranean fever [RCV003604119] |
Chr16:3249785 [GRCh38]
Chr16:3299785 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.911-14C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV003604617] |
Chr16:3249794 [GRCh38]
Chr16:3299794 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1281G>A (p.Leu427=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003876698] |
Chr16:3248984 [GRCh38]
Chr16:3298984 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1107C>T (p.Pro369=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003604165] |
Chr16:3249584 [GRCh38]
Chr16:3299584 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1357-18C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV003605144] |
Chr16:3247264 [GRCh38]
Chr16:3297264 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.966A>G (p.Pro322=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003879497] |
Chr16:3249725 [GRCh38]
Chr16:3299725 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1041C>T (p.Ser347=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003604213] |
Chr16:3249650 [GRCh38]
Chr16:3299650 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1357-27_1357-18del |
deletion |
Familial Mediterranean fever [RCV003606278] |
Chr16:3247264..3247273 [GRCh38]
Chr16:3297264..3297273 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1812A>G (p.Ala604=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003604103] |
Chr16:3243675 [GRCh38]
Chr16:3293675 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.916C>G (p.Pro306Ala) |
single nucleotide variant |
Familial Mediterranean fever [RCV003604251] |
Chr16:3249775 [GRCh38]
Chr16:3299775 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.372C>A (p.Pro124=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003606254] |
Chr16:3254696 [GRCh38]
Chr16:3304696 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1759+14T>A |
single nucleotide variant |
Familial Mediterranean fever [RCV003604827] |
Chr16:3244240 [GRCh38]
Chr16:3294240 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.277+17C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV003876055] |
Chr16:3256294 [GRCh38]
Chr16:3306294 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1947C>G (p.Leu649=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003605054] |
Chr16:3243540 [GRCh38]
Chr16:3293540 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.278-10G>T |
single nucleotide variant |
Familial Mediterranean fever [RCV003606337] |
Chr16:3254800 [GRCh38]
Chr16:3304800 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.705G>A (p.Ser235=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003497402] |
Chr16:3254363 [GRCh38]
Chr16:3304363 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.911-5C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV003497579] |
Chr16:3249785 [GRCh38]
Chr16:3299785 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1792+16A>G |
single nucleotide variant |
Familial Mediterranean fever [RCV003497632] |
Chr16:3243844 [GRCh38]
Chr16:3293844 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.74A>C (p.Lys25Thr) |
single nucleotide variant |
not provided [RCV003740511] |
Chr16:3256514 [GRCh38]
Chr16:3306514 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2130A>G (p.Leu710=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003603420] |
Chr16:3243357 [GRCh38]
Chr16:3293357 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1588-12T>A |
single nucleotide variant |
not provided [RCV003740576] |
Chr16:3246559 [GRCh38]
Chr16:3296559 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1099C>T (p.Leu367=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003603323] |
Chr16:3249592 [GRCh38]
Chr16:3299592 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1536G>A (p.Leu512=) |
single nucleotide variant |
not provided [RCV003740543] |
Chr16:3247067 [GRCh38]
Chr16:3297067 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1884G>A (p.Arg628=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003498330] |
Chr16:3243603 [GRCh38]
Chr16:3293603 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1506A>T (p.Val502=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003498629] |
Chr16:3247097 [GRCh38]
Chr16:3297097 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1502_1503delinsAT (p.Arg501His) |
indel |
Familial Mediterranean fever [RCV003498154] |
Chr16:3247100..3247101 [GRCh38]
Chr16:3297100..3297101 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.547C>T (p.Pro183Ser) |
single nucleotide variant |
Familial Mediterranean fever [RCV003499903] |
Chr16:3254521 [GRCh38]
Chr16:3304521 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.46C>T (p.Leu16=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003603425] |
Chr16:3256542 [GRCh38]
Chr16:3306542 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1610+17T>C |
single nucleotide variant |
Familial Mediterranean fever [RCV003498130] |
Chr16:3246508 [GRCh38]
Chr16:3296508 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.228C>T (p.Ala76=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003603414] |
Chr16:3256360 [GRCh38]
Chr16:3306360 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.636G>A (p.Arg212=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003498819] |
Chr16:3254432 [GRCh38]
Chr16:3304432 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.928G>A (p.Ala310Thr) |
single nucleotide variant |
not provided [RCV003740633] |
Chr16:3249763 [GRCh38]
Chr16:3299763 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1588-3T>A |
single nucleotide variant |
not provided [RCV003740647] |
Chr16:3246550 [GRCh38]
Chr16:3296550 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.702C>G (p.Pro234=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003499447] |
Chr16:3254366 [GRCh38]
Chr16:3304366 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1500C>T (p.Thr500=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003854812] |
Chr16:3247103 [GRCh38]
Chr16:3297103 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1419G>A (p.Leu473=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003497646] |
Chr16:3247184 [GRCh38]
Chr16:3297184 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2313T>A (p.Thr771=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003497737] |
Chr16:3243174 [GRCh38]
Chr16:3293174 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2194T>C (p.Tyr732His) |
single nucleotide variant |
Familial Mediterranean fever [RCV003497759] |
Chr16:3243293 [GRCh38]
Chr16:3293293 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.277+18T>G |
single nucleotide variant |
Familial Mediterranean fever [RCV003499693] |
Chr16:3256293 [GRCh38]
Chr16:3306293 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2220C>T (p.Ile740=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003499848] |
Chr16:3243267 [GRCh38]
Chr16:3293267 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1449A>G (p.Ser483=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003855760] |
Chr16:3247154 [GRCh38]
Chr16:3297154 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.951C>T (p.Ala317=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003498044] |
Chr16:3249740 [GRCh38]
Chr16:3299740 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.423C>T (p.Ser141=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003497416] |
Chr16:3254645 [GRCh38]
Chr16:3304645 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1610+11G>A |
single nucleotide variant |
Familial Mediterranean fever [RCV003497612] |
Chr16:3246514 [GRCh38]
Chr16:3296514 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1719C>T (p.Tyr573=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003814530] |
Chr16:3244480 [GRCh38]
Chr16:3294480 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.804T>C (p.Ala268=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003497766] |
Chr16:3254264 [GRCh38]
Chr16:3304264 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1727-10_1727-6del |
deletion |
Familial Mediterranean fever [RCV003497808] |
Chr16:3244292..3244296 [GRCh38]
Chr16:3294292..3294296 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.277+4A>C |
single nucleotide variant |
Familial Mediterranean fever [RCV003603357] |
Chr16:3256307 [GRCh38]
Chr16:3306307 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1587+19G>A |
single nucleotide variant |
Familial Mediterranean fever [RCV003499516] |
Chr16:3246997 [GRCh38]
Chr16:3296997 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.696C>T (p.Tyr232=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003810681] |
Chr16:3254372 [GRCh38]
Chr16:3304372 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1759+13G>T |
single nucleotide variant |
Familial Mediterranean fever [RCV003855342] |
Chr16:3244241 [GRCh38]
Chr16:3294241 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1014T>G (p.Val338=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003497430] |
Chr16:3249677 [GRCh38]
Chr16:3299677 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.590G>A (p.Gly197Asp) |
single nucleotide variant |
not provided [RCV003740601] |
Chr16:3254478 [GRCh38]
Chr16:3304478 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.911-15A>G |
single nucleotide variant |
Familial Mediterranean fever [RCV003497442] |
Chr16:3249795 [GRCh38]
Chr16:3299795 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.277+16C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV003813883] |
Chr16:3256295 [GRCh38]
Chr16:3306295 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.145A>C (p.Arg49=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003498650] |
Chr16:3256443 [GRCh38]
Chr16:3306443 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1671C>A (p.Ile557=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003837544] |
Chr16:3244528 [GRCh38]
Chr16:3294528 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2310G>T (p.Leu770=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003498737] |
Chr16:3243177 [GRCh38]
Chr16:3293177 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1260+14G>T |
single nucleotide variant |
Familial Mediterranean fever [RCV003499381] |
Chr16:3249417 [GRCh38]
Chr16:3299417 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1590C>T (p.Asp530=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003499822] |
Chr16:3246545 [GRCh38]
Chr16:3296545 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1506A>G (p.Val502=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003499700] |
Chr16:3247097 [GRCh38]
Chr16:3297097 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1610+7C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV003499762] |
Chr16:3246518 [GRCh38]
Chr16:3296518 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1527C>G (p.Leu509=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003822097] |
Chr16:3247076 [GRCh38]
Chr16:3297076 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.300C>A (p.Gly100=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003859594] |
Chr16:3254768 [GRCh38]
Chr16:3304768 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1357-16G>A |
single nucleotide variant |
Familial Mediterranean fever [RCV003871029] |
Chr16:3247262 [GRCh38]
Chr16:3297262 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.910+13C>A |
single nucleotide variant |
Familial Mediterranean fever [RCV003860459] |
Chr16:3254145 [GRCh38]
Chr16:3304145 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1531G>A (p.Ala511Thr) |
single nucleotide variant |
not provided [RCV003736387] |
Chr16:3247072 [GRCh38]
Chr16:3297072 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1986G>A (p.Lys662=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003864743] |
Chr16:3243501 [GRCh38]
Chr16:3293501 [GRCh37]
Chr16:16p13.3 |
likely benign |
| GRCh37/hg19 16p13.3(chr16:3112024-3506789)x3 |
copy number gain |
not specified [RCV003987138] |
Chr16:3112024..3506789 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2076A>T (p.Ile692=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003863381] |
Chr16:3243411 [GRCh38]
Chr16:3293411 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1792+11A>G |
single nucleotide variant |
Familial Mediterranean fever [RCV003864570] |
Chr16:3243849 [GRCh38]
Chr16:3293849 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1417C>T (p.Leu473=) |
single nucleotide variant |
not provided [RCV003736467] |
Chr16:3247186 [GRCh38]
Chr16:3297186 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2301A>G (p.Thr767=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003864309] |
Chr16:3243186 [GRCh38]
Chr16:3293186 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1357-8C>T |
single nucleotide variant |
Familial Mediterranean fever [RCV003842076] |
Chr16:3247254 [GRCh38]
Chr16:3297254 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.910+16T>C |
single nucleotide variant |
Familial Mediterranean fever [RCV003818620] |
Chr16:3254142 [GRCh38]
Chr16:3304142 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1959T>C (p.Arg653=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003843610] |
Chr16:3243528 [GRCh38]
Chr16:3293528 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.552C>A (p.Gly184=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003863379] |
Chr16:3254516 [GRCh38]
Chr16:3304516 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1428_1429delinsGA (p.Glu477Lys) |
indel |
Familial Mediterranean fever [RCV003842792] |
Chr16:3247174..3247175 [GRCh38]
Chr16:3297174..3297175 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1760-121A>G |
single nucleotide variant |
MEFV-related condition [RCV003977179] |
Chr16:3244013 [GRCh38]
Chr16:3294013 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2102C>A (p.Ala701Glu) |
single nucleotide variant |
MEFV-related condition [RCV003899698] |
Chr16:3243385 [GRCh38]
Chr16:3293385 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1760-39T>C |
single nucleotide variant |
MEFV-related condition [RCV003982678] |
Chr16:3243931 [GRCh38]
Chr16:3293931 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.84G>A (p.Leu28=) |
single nucleotide variant |
MEFV-related condition [RCV003896284] |
Chr16:3256504 [GRCh38]
Chr16:3306504 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.258C>T (p.Leu86=) |
single nucleotide variant |
MEFV-related condition [RCV003964268] |
Chr16:3256330 [GRCh38]
Chr16:3306330 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.852T>A (p.Asp284Glu) |
single nucleotide variant |
MEFV-related condition [RCV003899287] |
Chr16:3254216 [GRCh38]
Chr16:3304216 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1 |
copy number loss |
not provided [RCV003885471] |
Chr16:2990033..4837646 [GRCh37]
Chr16:16p13.3 |
pathogenic |
| NM_000243.3(MEFV):c.910+6T>G |
single nucleotide variant |
MEFV-related condition [RCV003959413] |
Chr16:3254152 [GRCh38]
Chr16:3304152 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.214C>T (p.Gln72Ter) |
single nucleotide variant |
Familial Mediterranean fever [RCV001247730] |
Chr16:3256374 [GRCh38]
Chr16:3306374 [GRCh37]
Chr16:16p13.3 |
pathogenic |
| NM_000243.3(MEFV):c.495C>T (p.Ala165=) |
single nucleotide variant |
not provided [RCV001686391] |
Chr16:3254573 [GRCh38]
Chr16:3304573 [GRCh37]
Chr16:16p13.3 |
benign |
| NM_000243.3(MEFV):c.1261-13G>A |
single nucleotide variant |
Familial Mediterranean fever [RCV002069202]|not specified [RCV001192543] |
Chr16:3249017 [GRCh38]
Chr16:3299017 [GRCh37]
Chr16:16p13.3 |
likely benign|uncertain significance |
| NM_000243.3(MEFV):c.1964G>T (p.Trp655Leu) |
single nucleotide variant |
Familial Mediterranean fever [RCV001321270]|Inborn genetic diseases [RCV002545092] |
Chr16:3243523 [GRCh38]
Chr16:3293523 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1916G>A (p.Cys639Tyr) |
single nucleotide variant |
Familial Mediterranean fever [RCV001362252] |
Chr16:3243571 [GRCh38]
Chr16:3293571 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.149C>T (p.Pro50Leu) |
single nucleotide variant |
Acute febrile neutrophilic dermatosis [RCV003127857]|Familial Mediterranean fever [RCV001374636]|Familial Mediterranean fever [RCV002488189]|Familial Mediterranean fever, autosomal dominant [RCV003127856] |
Chr16:3256439 [GRCh38]
Chr16:3306439 [GRCh37]
Chr16:16p13.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000243.3(MEFV):c.1536G>C (p.Leu512=) |
single nucleotide variant |
not provided [RCV001726979] |
Chr16:3247067 [GRCh38]
Chr16:3297067 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.2140C>T (p.Pro714Ser) |
single nucleotide variant |
not provided [RCV001776987] |
Chr16:3243347 [GRCh38]
Chr16:3293347 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.2202G>A (p.Val734=) |
single nucleotide variant |
Familial Mediterranean fever [RCV002085975] |
Chr16:3243285 [GRCh38]
Chr16:3293285 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.728T>C (p.Leu243Pro) |
single nucleotide variant |
Familial Mediterranean fever [RCV002290373] |
Chr16:3254340 [GRCh38]
Chr16:3304340 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.201G>T (p.Val67=) |
single nucleotide variant |
Inborn genetic diseases [RCV002419558] |
Chr16:3256387 [GRCh38]
Chr16:3306387 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1551G>A (p.Glu517=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003019493] |
Chr16:3247052 [GRCh38]
Chr16:3297052 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.1252G>C (p.Glu418Gln) |
single nucleotide variant |
not provided [RCV003131583] |
Chr16:3249439 [GRCh38]
Chr16:3299439 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.667C>T (p.Gln223Ter) |
single nucleotide variant |
not provided [RCV003132643] |
Chr16:3254401 [GRCh38]
Chr16:3304401 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.380A>C (p.Asn127Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003203828] |
Chr16:3254688 [GRCh38]
Chr16:3304688 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.390C>A (p.Asn130Lys) |
single nucleotide variant |
Familial Mediterranean fever [RCV003329211] |
Chr16:3254678 [GRCh38]
Chr16:3304678 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1271A>C (p.Gln424Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003381248] |
Chr16:3248994 [GRCh38]
Chr16:3298994 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1340A>T (p.Lys447Met) |
single nucleotide variant |
not provided [RCV003411241] |
Chr16:3248925 [GRCh38]
Chr16:3298925 [GRCh37]
Chr16:16p13.3 |
uncertain significance |
| NM_000243.3(MEFV):c.1614T>C (p.Ala538=) |
single nucleotide variant |
Familial Mediterranean fever [RCV003606617] |
Chr16:3244585 [GRCh38]
Chr16:3294585 [GRCh37]
Chr16:16p13.3 |
likely benign |
| NM_000243.3(MEFV):c.910+7T>G |
single nucleotide variant |
MEFV-related condition [RCV003959706] |
Chr16:3254151 [GRCh38]
Chr16:3304151 [GRCh37]
Chr16:16p13.3 |
likely benign |
