Total 284 pathogenic variants reported for Familial mediterranean fever
Variant Name |
Variant Type |
Variant Genomic Location |
Clinical Significance |
Phenotype Condition |
Review Status |
ClinGen Allele |
dbSNP ID |
Variation/condition record |
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
SNV Germline |
Chr16:3243407 |
Pathogenic/Likely pathogenic |
Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant 9 conditions Familial Mediterranean fever, autosomal dominant 8 conditions Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Inborn genetic diseases Recurrent fever MEFV-related disorder |
Criteria Provided Multiple Submitters No Conflicts |
CA280091 |
rs_61752717 |
48 SubmittersRCV000002647RCV000216751RCV000763381RCV000735306RCV001028046RCV000735284RCV001535935RCV002262539RCV001197704RCV002415387RCV003325449RCV003335011 |
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
SNV Germline |
Chr16:3243405 |
Pathogenic/Likely pathogenic |
Familial Mediterranean fever Condition: not provided Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome MEFV-related disorder |
Criteria Provided Multiple Submitters No Conflicts |
CA280093 |
rs_28940578 |
35 SubmittersRCV000002648RCV000220431RCV000589706RCV000763380RCV002262540RCV004528066 |
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
SNV Germline |
Chr16:3243310 |
Pathogenic/Likely pathogenic |
Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Inborn genetic diseases Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA280095 |
rs_28940579 |
47 SubmittersRCV000002649RCV000220654RCV000515437RCV000984975RCV000623003RCV001535867RCV002262541 |
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
SNV Germline |
Chr16:3254626 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Inborn genetic diseases See cases Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant MEFV-related disorder |
Criteria Provided Conflicting Classifications |
CA280097 |
rs_3743930 |
32 SubmittersRCV000002651RCV000218652RCV000513398RCV000768024RCV000761446RCV002326658RCV002251861RCV002262542RCV003224086RCV004528067 |
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)
|
SNV Germline |
Chr16:3254567 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Familial Mediterranean fever, autosomal dominant not specified Autoinflammatory syndrome |
Criteria Provided Conflicting Classifications |
CA280099 |
rs_104895079 |
16 SubmittersRCV000002652RCV000588525RCV001262294RCV003230342RCV002262543 |
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)
|
SNV Germline |
Chr16:3254268 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Condition: not provided Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome MEFV-related disorder |
Criteria Provided Conflicting Classifications |
CA280101 |
rs_104895081 |
16 SubmittersRCV000002653RCV000991330RCV000996177RCV001535446RCV002262544RCV004532273 |
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)
|
SNV Germline |
Chr16:3247166 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided not specified Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome |
Criteria Provided Conflicting Classifications |
CA280103 |
rs_104895083 |
17 SubmittersRCV000002654RCV000508324RCV003230343RCV003466786RCV002262545 |
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
SNV Germline |
Chr16:3243403 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Inborn genetic diseases 6 conditions Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant not specified Abnormal cardiovascular system morphology Heart, malformation of Renal insufficiency Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280105 |
rs_104895094 |
33 SubmittersRCV000002656RCV000213470RCV000622573RCV000415431RCV000768021RCV000508192RCV001270033RCV003389035RCV002262546RCV003224087 |
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
SNV Germline |
Chr16:3243257 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant not specified Familial Mediterranean fever, autosomal dominant Inborn genetic diseases Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant MEFV-related disorder Autoinflammatory syndrome |
Criteria Provided Conflicting Classifications |
CA280107 |
rs_61732874 |
35 SubmittersRCV000002657RCV000213702RCV000768020RCV000999738RCV001770031RCV002415388RCV001535864RCV004532274RCV002262547 |
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
SNV Germline |
Chr16:3243205 |
Pathogenic/Likely pathogenic |
Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome Inborn genetic diseases Familial Mediterranean fever, autosomal dominant |
Criteria Provided Multiple Submitters No Conflicts |
CA280110 |
rs_104895097 |
30 SubmittersRCV000002658RCV000217233RCV000763379RCV001536101RCV002262548RCV002512683RCV003466787 |
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)
|
SNV Germline |
Chr16:3243447 |
Pathogenic |
Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA280112 |
rs_28940580 |
20 SubmittersRCV000002659RCV000216518RCV001269325RCV001283820RCV002262549 |
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
SNV Germline |
Chr16:3249586 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided not specified Autoinflammatory syndrome Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA280114 |
rs_11466023 |
20 SubmittersRCV000002660RCV000416092RCV000215679RCV002262550RCV002433442 |
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
SNV Germline |
Chr16:3249468 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Condition: not provided Autoinflammatory syndrome Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA280116 |
rs_11466024 |
19 SubmittersRCV000002661RCV000218029RCV000224408RCV002262551RCV002362552 |
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)
|
SNV Germline |
Chr16:3243529 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280118 |
rs_104895085 |
13 SubmittersRCV000002662RCV000255083RCV003466788 |
NM_000243.3(MEFV):c.443A>T (p.Glu148Val)
|
SNV Germline |
Chr16:3254625 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA280120 |
rs_104895076 |
12 SubmittersRCV000002663RCV000216721RCV000415966RCV002482818RCV002262552RCV003125825RCV003125826 |
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr)
|
SNV Germline |
Chr16:3247171 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA115610 |
rs_104895105 |
7 SubmittersRCV000002666RCV000083696RCV001562614RCV003125827 |
NM_000243.3(MEFV):c.1260+10C>T
|
SNV Germline |
Chr16:3249421 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided not specified Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280244 |
rs_104895137 |
9 SubmittersRCV000030170RCV001705603RCV001000668RCV001280974RCV002262578RCV003224107 |
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)
|
SNV Germline |
Chr16:3248947 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever not specified Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome See cases Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA280245 |
rs_11466026 |
10 SubmittersRCV000586627RCV000989483RCV001526854RCV001281041RCV002262579RCV002251931RCV003224108 |
NM_000243.3(MEFV):c.1503C>T (p.Arg501=)
|
SNV Germline |
Chr16:3247100 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Condition: not provided Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant Inborn genetic diseases Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA280251 |
rs_76464258 |
11 SubmittersRCV000030173RCV000251198RCV001689576RCV002262581RCV003125839RCV002390122RCV003125840 |
NM_000243.3(MEFV):c.1518C>T (p.Ile506=)
|
SNV Germline |
Chr16:3247085 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Condition: not provided Autoinflammatory syndrome Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA280254 |
rs_104895099 |
12 SubmittersRCV000030174RCV000126736RCV001532317RCV002262582RCV002390123 |
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)
|
SNV Germline |
Chr16:3243880 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Condition: not provided Acute febrile neutrophilic dermatosis Autoinflammatory syndrome Inborn genetic diseases Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA280263 |
rs_11466045 |
14 SubmittersRCV000030178RCV000214973RCV000589464RCV001197906RCV002262585RCV002408482RCV003224109 |
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)
|
SNV Germline |
Chr16:3243447 |
Pathogenic |
Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Autoinflammatory syndrome See cases Familial Mediterranean fever, autosomal dominant Inborn genetic diseases Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Multiple Submitters No Conflicts |
CA280267 |
rs_28940580 |
36 SubmittersRCV000030179RCV000222364RCV000515335RCV001197705RCV002262586RCV002251932RCV002254152RCV002415433RCV002477026 |
NM_000243.3(MEFV):c.2118G>A (p.Pro706=)
|
SNV Germline |
Chr16:3243369 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Condition: not provided Familial Mediterranean fever, autosomal dominant Inborn genetic diseases Autoinflammatory syndrome |
Criteria Provided Conflicting Classifications |
CA280268 |
rs_2234939 |
14 SubmittersRCV000030181RCV000250856RCV001705606RCV001731318RCV002415434RCV002262587 |
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)
|
SNV Germline |
Chr16:3254158 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided not specified Autoinflammatory syndrome MEFV-related disorder |
Criteria Provided Conflicting Classifications |
CA280280 |
rs_75977701 |
14 SubmittersRCV000030186RCV000414140RCV000508393RCV002262592RCV004532422 |
NM_000243.3(MEFV):c.941G>A (p.Arg314His)
|
SNV Germline |
Chr16:3249750 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA280283 |
rs_104895204 |
7 SubmittersRCV000030187RCV003480037RCV003125843RCV003125844 |
NM_000243.3(MEFV):c.97G>T (p.Val33Leu)
|
SNV Germline |
Chr16:3256491 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant not specified Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA280289 |
rs_11466016 |
9 SubmittersRCV000030189RCV000589938RCV000768268RCV001290446RCV001276303RCV002262594RCV003224110 |
NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp)
|
SNV Germline/somatic |
Chr16:3243427 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided |
Criteria Provided Conflicting Classifications |
CA280323 |
rs_387907570 |
4 SubmittersRCV000049558RCV000216370 |
NM_000243.3(MEFV):c.863C>A (p.Ser288Tyr)
|
SNV Germline/somatic |
Chr16:3254205 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280335 |
rs_387907567 |
5 SubmittersRCV000049562RCV002483065RCV003125890RCV003125889 |
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr)
|
SNV Germline/somatic |
Chr16:3254725 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided not specified Autoinflammatory syndrome |
Criteria Provided Conflicting Classifications |
CA280349 |
rs_147557169 |
7 SubmittersRCV000083246RCV000221844RCV001193206RCV002262627 |
NM_000243.3(MEFV):c.1043G>A (p.Arg348His)
|
SNV Germline |
Chr16:3249648 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Condition: not provided Autoinflammatory syndrome |
Criteria Provided Conflicting Classifications |
CA280361 |
rs_104895198 |
8 SubmittersRCV000083679RCV000417776RCV000755567RCV002262629 |
NM_000243.3(MEFV):c.1056C>T (p.Cys352=)
|
SNV Germline |
Chr16:3249635 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever See cases |
Criteria Provided Conflicting Classifications |
CA280364 |
rs_104895164 |
3 SubmittersRCV000083680RCV002251974 |
NM_000243.3(MEFV):c.1060C>T (p.Arg354Trp)
|
SNV Germline |
Chr16:3249631 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Condition: not provided |
Criteria Provided Conflicting Classifications |
CA280367 |
rs_104895116 |
7 SubmittersRCV000083681RCV003126416RCV003126415RCV002483159RCV003480054 |
NM_000243.3(MEFV):c.1089C>T (p.Ser363=)
|
SNV Germline |
Chr16:3249602 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280370 |
rs_104895170 |
4 SubmittersRCV000083682RCV000615290RCV003126418RCV003126417 |
NM_000243.3(MEFV):c.1091C>T (p.Pro364Leu)
|
SNV Germline |
Chr16:3249600 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Autoinflammatory syndrome Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280373 |
rs_104895214 |
5 SubmittersRCV000083683RCV002262630RCV002490734RCV003126420RCV003126419 |
NM_000243.3(MEFV):c.1179C>T (p.Pro393=)
|
SNV Germline |
Chr16:3249512 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA280379 |
rs_104895082 |
6 SubmittersRCV000083685RCV001192541RCV002490735RCV003126421RCV003126422 |
NM_000243.3(MEFV):c.1245C>T (p.Val415=)
|
SNV Germline |
Chr16:3249446 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Condition: not provided Autoinflammatory syndrome Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA280382 |
rs_104895195 |
11 SubmittersRCV000083686RCV000590208RCV000877404RCV002262631RCV002390249 |
NM_000243.3(MEFV):c.1261-11T>G
|
SNV Germline |
Chr16:3249015 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA280387 |
rs_77086855 |
5 SubmittersRCV000083689RCV000428464RCV001537822 |
NM_000243.3(MEFV):c.1261-28A>G
|
SNV Germline |
Chr16:3249032 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Central core myopathy Condition: not provided Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA280388 |
rs_104895140 |
6 SubmittersRCV000083690RCV001258254RCV001711585RCV003126423RCV003126424 |
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)
|
SNV Germline |
Chr16:3247233 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided not specified Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA280392 |
rs_104895151 |
9 SubmittersRCV000083692RCV000512979RCV000855597RCV001280972RCV003224140 |
NM_000243.3(MEFV):c.1405G>T (p.Val469Leu)
|
SNV Germline |
Chr16:3247198 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280395 |
rs_104895173 |
4 SubmittersRCV000083693RCV001553681RCV003126426RCV003126425 |
NM_000243.3(MEFV):c.1459G>A (p.Val487Met)
|
SNV Germline |
Chr16:3247144 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280403 |
rs_104895100 |
6 SubmittersRCV000083697RCV002477245RCV003126428RCV003126427 |
NM_000243.3(MEFV):c.1467G>A (p.Gln489=)
|
SNV Germline |
Chr16:3247136 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Condition: not provided Autoinflammatory syndrome Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA280406 |
rs_61732424 |
12 SubmittersRCV000083698RCV000126746RCV000590572RCV002262632RCV002390250 |
NM_000243.3(MEFV):c.1501C>G (p.Arg501Gly)
|
SNV Germline |
Chr16:3247102 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA280409 |
rs_104895101 |
5 SubmittersRCV000083699RCV002483160RCV003126429RCV003126430 |
NM_000243.3(MEFV):c.1502G>A (p.Arg501His)
|
SNV Germline |
Chr16:3247101 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Autoinflammatory syndrome |
Criteria Provided Conflicting Classifications |
CA280412 |
rs_104895196 |
4 SubmittersRCV000083700RCV001192542RCV002262633 |
NM_000243.3(MEFV):c.1538T>C (p.Ile513Thr)
|
SNV Germline |
Chr16:3247065 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280418 |
rs_104895199 |
4 SubmittersRCV000083702RCV001753485RCV003126432RCV003126431 |
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu)
|
SNV Germline |
Chr16:3244269 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome not specified |
Criteria Provided Conflicting Classifications |
CA280431 |
rs_104895165 |
8 SubmittersRCV000083708RCV002483161RCV003126434RCV003126433RCV002262634RCV003488380 |
NM_000243.3(MEFV):c.1760-4G>A
|
SNV Germline |
Chr16:3243896 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Condition: not provided Autoinflammatory syndrome |
Criteria Provided Conflicting Classifications |
CA280436 |
rs_79662406 |
11 SubmittersRCV000083710RCV000246189RCV001572991RCV002262635 |
NM_000243.3(MEFV):c.1776C>T (p.Gly592=)
|
SNV Germline |
Chr16:3243876 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided |
Criteria Provided Conflicting Classifications |
CA280438 |
rs_104895161 |
3 SubmittersRCV000083711RCV000285170 |
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp)
|
SNV Germline |
Chr16:3243692 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome |
Criteria Provided Conflicting Classifications |
CA280449 |
rs_104895210 |
7 SubmittersRCV000083716RCV000218478RCV002505013RCV003126436RCV003126435RCV002262636 |
NM_000243.3(MEFV):c.1827C>G (p.Pro609=)
|
SNV Germline |
Chr16:3243660 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280456 |
rs_104895135 |
6 SubmittersRCV000083718RCV000834990RCV001797624RCV003126438RCV003126437 |
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser)
|
SNV Germline |
Chr16:3243593 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280459 |
rs_104895128 |
11 SubmittersRCV000083719RCV000763382RCV001811392RCV003224141RCV003447490 |
NM_000243.3(MEFV):c.1956C>A (p.Arg652=)
|
SNV Germline |
Chr16:3243531 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Autoinflammatory syndrome |
Criteria Provided Conflicting Classifications |
CA280472 |
rs_104895084 |
3 SubmittersRCV000083725RCV002262637 |
NM_000243.3(MEFV):c.195C>T (p.Tyr65=)
|
SNV Germline |
Chr16:3256393 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Condition: not provided Autoinflammatory syndrome Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA280475 |
rs_104895077 |
9 SubmittersRCV000083726RCV000587862RCV001705807RCV002262638RCV003352768 |
NM_000243.3(MEFV):c.2024G>A (p.Ser675Asn)
|
SNV Germline |
Chr16:3243463 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA280485 |
rs_104895087 |
4 SubmittersRCV000083730RCV000768022RCV003126439RCV003224142RCV003126440 |
NM_000243.3(MEFV):c.2033G>A (p.Gly678Glu)
|
SNV Germline |
Chr16:3243454 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA280487 |
rs_104895088 |
7 SubmittersRCV000083731RCV000414076RCV003126441RCV003126442RCV002498439 |
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu)
|
SNV Germline |
Chr16:3243449 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever |
Criteria Provided Conflicting Classifications |
CA280489 |
rs_104895089 |
3 SubmittersRCV000083732 |
NM_000243.3(MEFV):c.2049G>A (p.Ser683=)
|
SNV Germline |
Chr16:3243438 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Condition: not provided Inborn genetic diseases Autoinflammatory syndrome |
Criteria Provided Conflicting Classifications |
CA280493 |
rs_104895092 |
9 SubmittersRCV000083734RCV001000131RCV001705808RCV002415584RCV002262639 |
NM_000243.3(MEFV):c.2085G>C (p.Lys695Asn)
|
SNV Germline |
Chr16:3243402 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified |
Criteria Provided Conflicting Classifications |
CA280514 |
rs_104895208 |
3 SubmittersRCV000083742RCV001001442 |
NM_000243.3(MEFV):c.2109C>T (p.Ser703=)
|
SNV Germline |
Chr16:3243378 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280523 |
rs_104895118 |
6 SubmittersRCV000083745RCV001539987RCV002498440RCV003126446RCV003126445 |
NM_000243.3(MEFV):c.2110G>A (p.Val704Ile)
|
SNV Germline |
Chr16:3243377 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280526 |
rs_104895096 |
4 SubmittersRCV000083746RCV003126448RCV003126447 |
NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys)
|
SNV Germline |
Chr16:3243365 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Acute febrile neutrophilic dermatosis Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280530 |
rs_104895202 |
7 SubmittersRCV000083748RCV000780404RCV003126450RCV002262641RCV003126449 |
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met)
|
SNV Germline |
Chr16:3243327 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant MEFV-related disorder |
Criteria Provided Conflicting Classifications |
CA280539 |
rs_104895102 |
9 SubmittersRCV000083751RCV000780406RCV003126452RCV003126451RCV004529874 |
NM_000243.3(MEFV):c.2164G>A (p.Val722Met)
|
SNV Germline |
Chr16:3243323 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280541 |
rs_104895201 |
9 SubmittersRCV000083752RCV001175016RCV001701661RCV003126454RCV003126453 |
NM_000243.3(MEFV):c.2169C>T (p.Asp723=)
|
SNV Germline |
Chr16:3243318 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA280544 |
rs_104895117 |
4 SubmittersRCV000083753RCV000780403RCV003126455RCV003126456 |
NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu)
|
SNV Germline |
Chr16:3243258 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA280550 |
rs_104895152 |
7 SubmittersRCV000083755RCV003126457RCV003133133RCV002483162RCV003126458 |
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys)
|
SNV Germline |
Chr16:3243241 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided not specified Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280555 |
rs_104895171 |
9 SubmittersRCV000083757RCV000520754RCV001000179RCV002498441RCV003126460RCV003126459 |
NM_000243.3(MEFV):c.2263A>G (p.Ile755Val)
|
SNV Germline |
Chr16:3243224 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280561 |
rs_104895194 |
6 SubmittersRCV000083759RCV001562685RCV002483163RCV003126462RCV003126461 |
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val)
|
SNV Germline |
Chr16:3243173 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA280566 |
rs_104895163 |
7 SubmittersRCV000083761RCV000223191RCV002498442RCV003126463RCV003126464 |
NM_000243.3(MEFV):c.2337G>C (p.Gly779=)
|
SNV Germline |
Chr16:3243150 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Inborn genetic diseases Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280569 |
rs_104895153 |
7 SubmittersRCV000083762RCV001704008RCV002444555RCV003126466RCV003126465 |
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)
|
SNV Germline |
Chr16:3243149 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant not specified |
Criteria Provided Conflicting Classifications |
CA280572 |
rs_104895154 |
10 SubmittersRCV000083763RCV000217446RCV002262642RCV003126468RCV003126467RCV002298469 |
NM_000243.3(MEFV):c.265G>A (p.Ala89Thr)
|
SNV Germline |
Chr16:3256323 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant not specified |
Criteria Provided Conflicting Classifications |
CA280577 |
rs_104895124 |
6 SubmittersRCV000083765RCV002483164RCV003126470RCV003126469RCV002281918 |
NM_000243.3(MEFV):c.297C>T (p.Asn99=)
|
SNV Germline |
Chr16:3254771 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Familial Mediterranean fever, autosomal dominant Condition: not provided Autoinflammatory syndrome Inborn genetic diseases MEFV-related disorder |
Criteria Provided Conflicting Classifications |
CA280580 |
rs_104895175 |
10 SubmittersRCV000083766RCV000588269RCV001276302RCV001705809RCV002262643RCV002433593RCV004542800 |
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg)
|
SNV Germline |
Chr16:3254746 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided not specified Autoinflammatory syndrome Inborn genetic diseases Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280583 |
rs_104895103 |
13 SubmittersRCV000083767RCV000586697RCV001000180RCV002262644RCV002321581RCV003126472RCV002477246RCV003126471 |
NM_000243.3(MEFV):c.330G>A (p.Leu110=)
|
SNV Germline |
Chr16:3254738 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified |
Criteria Provided Conflicting Classifications |
CA280585 |
rs_104895177 |
4 SubmittersRCV000083768RCV001175450 |
NM_000243.3(MEFV):c.372C>T (p.Pro124=)
|
SNV Germline |
Chr16:3254696 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Condition: not provided Autoinflammatory syndrome Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA280592 |
rs_104895078 |
10 SubmittersRCV000083771RCV000507322RCV001705810RCV002262646RCV002345406 |
NM_000243.3(MEFV):c.422G>T (p.Ser141Ile)
|
SNV Germline |
Chr16:3254646 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant not specified |
Criteria Provided Conflicting Classifications |
CA280601 |
rs_104895130 |
5 SubmittersRCV000083774RCV003126476RCV003126475RCV002509206 |
NM_000243.3(MEFV):c.524C>A (p.Pro175His)
|
SNV Germline |
Chr16:3254544 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280615 |
rs_104895126 |
7 SubmittersRCV000083779RCV001588911RCV002490736RCV002262647RCV003126478RCV003126477 |
NM_000243.3(MEFV):c.530C>T (p.Thr177Ile)
|
SNV Germline |
Chr16:3254538 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280618 |
rs_104895143 |
6 SubmittersRCV000083780RCV001811393RCV003126480RCV003126479 |
NM_000243.3(MEFV):c.540G>C (p.Pro180=)
|
SNV Germline |
Chr16:3254528 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA280626 |
rs_104895139 |
6 SubmittersRCV000083783RCV000610894RCV003126481RCV003126482 |
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)
|
SNV Germline |
Chr16:3254482 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Condition: not provided Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome MEFV-related disorder |
Criteria Provided Conflicting Classifications |
CA201518 |
rs_104895179 |
11 SubmittersRCV000083784RCV000175563RCV000587560RCV001731372RCV002262648RCV004528779 |
NM_000243.3(MEFV):c.657C>T (p.Gly219=)
|
SNV Germline |
Chr16:3254411 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Condition: not provided Autoinflammatory syndrome Inborn genetic diseases MEFV-related disorder |
Criteria Provided Conflicting Classifications |
CA280630 |
rs_104895182 |
8 SubmittersRCV000083786RCV000251868RCV001705811RCV002262649RCV003298137RCV004528780 |
NM_000243.3(MEFV):c.663G>C (p.Pro221=)
|
SNV Germline |
Chr16:3254405 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Autoinflammatory syndrome Condition: not provided MEFV-related disorder |
Criteria Provided Conflicting Classifications |
CA280633 |
rs_104895162 |
6 SubmittersRCV000083787RCV000126743RCV002262650RCV003884348RCV004529875 |
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)
|
SNV Germline |
Chr16:3254380 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280639 |
rs_104895080 |
13 SubmittersRCV000083789RCV000213898RCV002265603RCV003224143RCV001027835RCV002262651RCV004546431 |
NM_000243.3(MEFV):c.726C>A (p.Ser242Arg)
|
SNV Germline |
Chr16:3254342 |
Pathogenic/Likely pathogenic |
Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Neuronal ceroid lipofuscinosis |
Criteria Provided Multiple Submitters No Conflicts |
CA280647 |
rs_104895127 |
3 SubmittersRCV000083792RCV001804836RCV004542801 |
NM_000243.3(MEFV):c.726C>G (p.Ser242Arg)
|
SNV Germline |
Chr16:3254342 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Acute febrile neutrophilic dermatosis Condition: not provided |
Criteria Provided Conflicting Classifications |
CA280650 |
rs_104895127 |
5 SubmittersRCV000083793RCV001174523RCV001172095 |
NM_000243.3(MEFV):c.726C>T (p.Ser242=)
|
SNV Germline |
Chr16:3254342 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Autoinflammatory syndrome |
Criteria Provided Conflicting Classifications |
CA280651 |
rs_104895127 |
3 SubmittersRCV000083794RCV002262652 |
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys)
|
SNV Germline |
Chr16:3254317 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA280654 |
rs_104895111 |
6 SubmittersRCV000083795RCV001701743RCV003126483RCV002262653RCV003126484 |
NM_000243.3(MEFV):c.775A>G (p.Ile259Val)
|
SNV Germline |
Chr16:3254293 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided not specified Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant MEFV-related disorder |
Criteria Provided Conflicting Classifications |
CA280658 |
rs_104895144 |
11 SubmittersRCV000083797RCV000587366RCV001000132RCV002262654RCV003126486RCV003126485RCV002505014RCV004529876 |
NM_000243.3(MEFV):c.803C>T (p.Ala268Val)
|
SNV Germline |
Chr16:3254265 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280661 |
rs_104895123 |
6 SubmittersRCV000083798RCV003126488RCV003126487RCV002498443 |
NM_000243.3(MEFV):c.848C>G (p.Pro283Arg)
|
SNV Germline |
Chr16:3254220 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280667 |
rs_104895119 |
7 SubmittersRCV000083800RCV000221070RCV000765291RCV003126490RCV003126489 |
NM_000243.3(MEFV):c.848C>T (p.Pro283Leu)
|
SNV Germline |
Chr16:3254220 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280670 |
rs_104895119 |
4 SubmittersRCV000083801RCV003126492RCV002505015RCV003126491 |
NM_000243.3(MEFV):c.866C>T (p.Ala289Val)
|
SNV Germline |
Chr16:3254202 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280673 |
rs_104895132 |
10 SubmittersRCV000083802RCV000594000RCV002262656RCV002483165RCV003114248RCV003126494RCV003126493 |
NM_000243.3(MEFV):c.926C>T (p.Thr309Met)
|
SNV Germline |
Chr16:3249765 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Condition: not provided Autoinflammatory syndrome |
Criteria Provided Conflicting Classifications |
CA280681 |
rs_104895155 |
8 SubmittersRCV000083806RCV000214115RCV001719850RCV002262657 |
NM_000243.3(MEFV):c.955G>A (p.Glu319Lys)
|
SNV Germline |
Chr16:3249736 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280684 |
rs_104895110 |
7 SubmittersRCV000083807RCV001701500RCV003126496RCV003126495 |
NM_000243.3(MEFV):c.986G>A (p.Arg329His)
|
SNV Germline |
Chr16:3249705 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided 8 conditions not specified Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280689 |
rs_104895112 |
17 SubmittersRCV000083809RCV000585083RCV000735285RCV000855598RCV001280973RCV002262658RCV003224144 |
NM_000243.3(MEFV):c.1587+33C>G
|
SNV Germline |
Chr16:3246983 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA280886 |
rs_146820856 |
7 SubmittersRCV000084150RCV000727205RCV001274312 |
NM_000243.3(MEFV):c.549G>A (p.Pro183=)
|
SNV Germline |
Chr16:3254519 |
Conflicting classifications of pathogenicity |
not specified Condition: not provided Familial Mediterranean fever |
Criteria Provided Conflicting Classifications |
CA292054 |
rs_587781035 |
5 SubmittersRCV000126741RCV000757454RCV000802334 |
NM_000243.3(MEFV):c.42G>A (p.Glu14=)
|
SNV Germline |
Chr16:3256546 |
Conflicting classifications of pathogenicity |
not specified Familial Mediterranean fever Condition: not provided Autoinflammatory syndrome Inborn genetic diseases MEFV-related disorder |
Criteria Provided Conflicting Classifications |
CA292057 |
rs_113314808 |
10 SubmittersRCV000126744RCV001081766RCV001812067RCV002262730RCV002326835RCV004544271 |
NM_000243.3(MEFV):c.1082G>C (p.Arg361Thr)
|
SNV Germline/somatic |
Chr16:3249609 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA280896 |
rs_190405488 |
5 SubmittersRCV000148029RCV003126540RCV003126541RCV002498677 |
NM_000243.3(MEFV):c.369C>A (p.His123Gln)
|
SNV Germline/somatic |
Chr16:3254699 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Inborn genetic diseases Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Condition: not provided |
Criteria Provided Conflicting Classifications |
CA280902 |
rs_587783379 |
5 SubmittersRCV000148289RCV002515994RCV003126542RCV003126543RCV000589662 |
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)
|
SNV Germline |
Chr16:3254739 |
Conflicting classifications of pathogenicity |
not specified Condition: not provided Familial Mediterranean fever Autoinflammatory syndrome |
Criteria Provided Conflicting Classifications |
CA201524 |
rs_11466018 |
12 SubmittersRCV000175565RCV000588731RCV001083220RCV002262770 |
NM_000243.3(MEFV):c.2146A>G (p.Lys716Glu)
|
SNV Germline |
Chr16:3243341 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA7859868 |
rs_746092199 |
5 SubmittersRCV000218313RCV000795673RCV001328382RCV003126632RCV003126631 |
NM_000243.3(MEFV):c.2141C>T (p.Pro714Leu)
|
SNV Germline |
Chr16:3243346 |
Conflicting classifications of pathogenicity |
Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA7859869 |
rs_758628487 |
3 SubmittersRCV000219567RCV002500741RCV003126641RCV003126639RCV003126640 |
NM_000243.3(MEFV):c.2040G>T (p.Met680Ile)
|
SNV Germline |
Chr16:3243447 |
Pathogenic/Likely pathogenic |
Condition: not provided Familial Mediterranean fever |
Criteria Provided Multiple Submitters No Conflicts |
CA10577519 |
rs_28940580 |
2 SubmittersRCV000220209RCV003605614 |
NM_000243.3(MEFV):c.1382G>A (p.Arg461Gln)
|
SNV Germline |
Chr16:3247221 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever |
Criteria Provided Conflicting Classifications |
CA7860140 |
rs_145637617 |
4 SubmittersRCV000589998RCV001089281 |
NM_000243.3(MEFV):c.1337A>C (p.Glu446Ala)
|
SNV Germline |
Chr16:3248928 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA7860180 |
rs_749651486 |
6 SubmittersRCV000219419RCV000632789RCV002262826RCV003126637RCV002478821RCV003126638 |
NM_000243.3(MEFV):c.959G>C (p.Gly320Ala)
|
SNV Germline |
Chr16:3249732 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA7860264 |
rs_374412819 |
5 SubmittersRCV000217797RCV001349028RCV002485438RCV003126628RCV003126627 |
NM_000243.3(MEFV):c.1066C>G (p.Gln356Glu)
|
SNV Germline |
Chr16:3249625 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA7860240 |
rs_377754606 |
4 SubmittersRCV000214481RCV001833230RCV002478820RCV003126635RCV003126636 |
NM_000243.3(MEFV):c.826G>T (p.Glu276Ter)
|
SNV Germline |
Chr16:3254242 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever |
Criteria Provided Conflicting Classifications |
CA10577520 |
rs_876660995 |
2 SubmittersRCV000217401RCV002519745 |
NM_000243.3(MEFV):c.547C>A (p.Pro183Thr)
|
SNV Germline |
Chr16:3254521 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA7860401 |
rs_202196752 |
6 SubmittersRCV000213498RCV001247010RCV002262822RCV002500739RCV003126626RCV003126625 |
NM_000243.3(MEFV):c.511G>A (p.Ala171Thr)
|
SNV Germline |
Chr16:3254557 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA10577522 |
rs_876660993 |
4 SubmittersRCV000216945RCV001371018RCV003126624RCV003126623 |
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro)
|
SNV Germline |
Chr16:3254608 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever not specified Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA7860420 |
rs_756975501 |
9 SubmittersRCV000218924RCV000695122RCV001193204RCV001731531RCV003126622RCV002494603 |
NM_000243.3(MEFV):c.439C>G (p.Pro147Ala)
|
SNV Germline |
Chr16:3254629 |
Conflicting classifications of pathogenicity |
Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA10577524 |
rs_876660991 |
3 SubmittersRCV000215134RCV002478819RCV003126620RCV003126619RCV003126621 |
NM_000243.3(MEFV):c.436C>T (p.Gln146Ter)
|
SNV Germline |
Chr16:3254632 |
Conflicting classifications of pathogenicity |
Condition: not provided not specified Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA10577525 |
rs_876660990 |
4 SubmittersRCV000222115RCV000781527RCV000818575RCV003126617RCV003126618 |
NM_000243.3(MEFV):c.407G>A (p.Gly136Glu)
|
SNV Germline |
Chr16:3254661 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA10577526 |
rs_876660989 |
4 SubmittersRCV000218405RCV000688336RCV003126616RCV003126615 |
NM_000243.3(MEFV):c.233A>G (p.Asn78Ser)
|
SNV Germline |
Chr16:3256355 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA7860501 |
rs_145015653 |
4 SubmittersRCV000215498RCV001121438RCV003126634RCV003126633 |
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp)
|
SNV Germline |
Chr16:3256464 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided not specified Autoinflammatory syndrome |
Criteria Provided Conflicting Classifications |
CA7860530 |
rs_61754767 |
8 SubmittersRCV000632798RCV000757453RCV000780402RCV002262821 |
NM_000243.3(MEFV):c.611G>A (p.Arg204His)
|
SNV Germline |
Chr16:3254457 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Condition: not provided |
Criteria Provided Conflicting Classifications |
CA7860378 |
rs_775663363 |
6 SubmittersRCV000491523RCV001804980RCV003126650RCV003126649RCV003480573 |
NM_000243.3(MEFV):c.250G>C (p.Glu84Gln)
|
SNV Germline |
Chr16:3256338 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_150819742 |
3 SubmittersRCV002041254RCV002486745RCV003126098RCV003126097 |
NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn)
|
SNV Germline |
Chr16:3248924 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever not specified Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA7860178 |
rs_756322372 |
9 SubmittersRCV000398473RCV001044845RCV001264418RCV002487174RCV003126659RCV003126660 |
NM_000243.3(MEFV):c.932C>T (p.Ala311Val)
|
SNV Germline |
Chr16:3249759 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever not specified |
Criteria Provided Conflicting Classifications |
CA7860272 |
rs_74346519 |
5 SubmittersRCV000725291RCV001089437RCV003155142 |
NM_000243.3(MEFV):c.744T>C (p.Ser248=)
|
SNV Germline |
Chr16:3254324 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever |
Criteria Provided Conflicting Classifications |
CA7860340 |
rs_750362154 |
2 SubmittersRCV000274837RCV001403432 |
NM_000243.3(MEFV):c.585G>A (p.Glu195=)
|
SNV Germline |
Chr16:3254483 |
Conflicting classifications of pathogenicity |
not specified Condition: not provided Inborn genetic diseases Autoinflammatory syndrome Familial Mediterranean fever |
Criteria Provided Conflicting Classifications |
CA7860389 |
rs_200766991 |
9 SubmittersRCV000394728RCV001711853RCV002356371RCV002262922RCV000272525 |
NM_000243.3(MEFV):c.1957C>T (p.Arg653Cys)
|
SNV Germline |
Chr16:3243530 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA7859890 |
rs_375716505 |
5 SubmittersRCV000587289RCV001276186RCV003126664RCV003126665 |
NM_000243.3(MEFV):c.1527C>T (p.Leu509=)
|
SNV Germline |
Chr16:3247076 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever |
Criteria Provided Conflicting Classifications |
CA7860110 |
rs_571832030 |
3 SubmittersRCV000380391 |
NM_000243.3(MEFV):c.1522C>T (p.Leu508=)
|
SNV Germline |
Chr16:3247081 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever |
Criteria Provided Conflicting Classifications |
CA10637684 |
rs_199937453 |
2 SubmittersRCV000286090 |
NM_000243.3(MEFV):c.1513G>T (p.Asp505Tyr)
|
SNV Germline |
Chr16:3247090 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA10637690 |
rs_150730718 |
6 SubmittersRCV000336445RCV001358002RCV002487407RCV003126669RCV003126668 |
NM_000243.3(MEFV):c.1173T>C (p.Asp391=)
|
SNV Germline |
Chr16:3249518 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA7860223 |
rs_146077729 |
6 SubmittersRCV000311158RCV001706508RCV004021658 |
NM_000243.3(MEFV):c.651G>C (p.Ala217=)
|
SNV Germline |
Chr16:3254417 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever |
Criteria Provided Conflicting Classifications |
CA10643571 |
rs_886051971 |
2 SubmittersRCV000307645 |
NM_000243.3(MEFV):c.1406T>C (p.Val469Ala)
|
SNV Germline |
Chr16:3247197 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome not specified Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA7860134 |
rs_778686119 |
7 SubmittersRCV000336657RCV002487408RCV003126670RCV002263010RCV002468940RCV003126671 |
NM_000243.3(MEFV):c.564C>T (p.Pro188=)
|
SNV Germline |
Chr16:3254504 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided |
Criteria Provided Conflicting Classifications |
CA7860398 |
rs_775755423 |
7 SubmittersRCV000327623RCV000829169 |
NM_000243.3(MEFV):c.289C>T (p.Gln97Ter)
|
SNV Germline |
Chr16:3254779 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Condition: not provided |
Criteria Provided Conflicting Classifications |
CA7860464 |
rs_747515115 |
5 SubmittersRCV000293866RCV002480142RCV003126673RCV003126672RCV002522844 |
NM_000243.3(MEFV):c.-15C>G
|
SNV Germline |
Chr16:3256602 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA7860557 |
rs_11466015 |
5 SubmittersRCV000294823RCV000438166RCV001718665 |
NM_000243.3(MEFV):c.*74C>T
|
SNV Germline |
Chr16:3243067 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10648332 |
rs_11466050 |
2 SubmittersRCV000277511RCV001561500 |
NM_000243.3(MEFV):c.1803T>A (p.Ile601=)
|
SNV Germline |
Chr16:3243684 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Condition: not provided Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA7859911 |
rs_779572391 |
6 SubmittersRCV000329543RCV000507285RCV001090249RCV002411210 |
NM_000243.3(MEFV):c.277G>C (p.Glu93Gln)
|
SNV Germline |
Chr16:3256311 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA7860489 |
rs_138498376 |
6 SubmittersRCV000348765RCV001812836RCV003126675RCV003126674 |
NM_000243.3(MEFV):c.66G>A (p.Glu22=)
|
SNV Germline |
Chr16:3256522 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA7860542 |
rs_569040282 |
3 SubmittersRCV000398218RCV002365373 |
NM_000243.3(MEFV):c.1730C>A (p.Thr577Asn)
|
SNV Germline |
Chr16:3244283 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10654935 |
rs_1057516210 |
3 SubmittersRCV000408827RCV001269727 |
NM_000243.3(MEFV):c.1099C>G (p.Leu367Val)
|
SNV Germline |
Chr16:3249592 |
Conflicting classifications of pathogenicity |
Behcet disease not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever Acute febrile neutrophilic dermatosis Condition: not provided Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA16044017 |
rs_1057519328 |
6 SubmittersRCV000416346RCV001805036RCV002480275RCV002521488RCV003126719RCV003133255RCV003126718 |
NM_000243.3(MEFV):c.2292G>T (p.Gly764=)
|
SNV Germline |
Chr16:3243195 |
Conflicting classifications of pathogenicity |
Condition: not provided not specified Familial Mediterranean fever Autoinflammatory syndrome |
Criteria Provided Conflicting Classifications |
CA7859840 |
rs_142352887 |
8 SubmittersRCV000429125RCV001000190RCV000989470RCV002263677 |
NM_000243.3(MEFV):c.1459G>C (p.Val487Leu)
|
SNV Germline |
Chr16:3247144 |
Conflicting classifications of pathogenicity |
not specified Familial Mediterranean fever Condition: not provided Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA7860122 |
rs_104895100 |
8 SubmittersRCV000439116RCV000531412RCV001712195RCV002263676RCV003150813 |
NM_000243.3(MEFV):c.489G>T (p.Glu163Asp)
|
SNV Germline |
Chr16:3254579 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA7860418 |
rs_759997694 |
5 SubmittersRCV000432274RCV001835805RCV002506080RCV003126739RCV003126738 |
NM_000243.3(MEFV):c.1759+11C>T
|
SNV Germline |
Chr16:3244243 |
Conflicting classifications of pathogenicity |
not specified Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA7860003 |
rs_370349451 |
4 SubmittersRCV000506579RCV002056907RCV003126783RCV002506235RCV003126782 |
NM_000243.3(MEFV):c.1356+31G>T
|
SNV Germline |
Chr16:3248878 |
Conflicting classifications of pathogenicity |
Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA7860166 |
rs_142775938 |
3 SubmittersRCV001584224RCV003126777RCV003126775RCV003126776 |
NM_000243.3(MEFV):c.1458C>T (p.Asp486=)
|
SNV Germline |
Chr16:3247145 |
Conflicting classifications of pathogenicity |
not specified Familial Mediterranean fever Autoinflammatory syndrome Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA7860123 |
rs_147767925 |
4 SubmittersRCV000507087RCV000908449RCV002263714RCV002395226 |
NM_000243.3(MEFV):c.1610+8G>A
|
SNV Germline |
Chr16:3246517 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis MEFV-related disorder |
Criteria Provided Conflicting Classifications |
CA7860071 |
rs_765410591 |
5 SubmittersRCV001429606RCV001810995RCV002496968RCV003126778RCV003126779RCV004541587 |
NM_000243.3(MEFV):c.786T>C (p.Thr262=)
|
SNV Germline |
Chr16:3254282 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA7860330 |
rs_575521131 |
4 SubmittersRCV000505968RCV001410018RCV003126781RCV003126780 |
NM_000243.3(MEFV):c.*9C>T
|
SNV Germline |
Chr16:3243132 |
Conflicting classifications of pathogenicity |
Condition: not provided not specified Familial Mediterranean fever Autoinflammatory syndrome MEFV-related disorder |
Criteria Provided Conflicting Classifications |
CA7859833 |
rs_11466048 |
10 SubmittersRCV000514937RCV000722126RCV001079215RCV002263721RCV004535656 |
NM_000243.3(MEFV):c.289C>A (p.Gln97Lys)
|
SNV Germline |
Chr16:3254779 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA7860463 |
rs_747515115 |
5 SubmittersRCV000514677RCV000632795RCV002263722RCV003126786RCV003126787 |
NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn)
|
SNV Germline |
Chr16:3249520 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA7860224 |
rs_764274816 |
7 SubmittersRCV000520467RCV001209535RCV002506272RCV003126794RCV003126793 |
NM_000243.3(MEFV):c.532C>T (p.Arg178Trp)
|
SNV Germline |
Chr16:3254536 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA394480937 |
rs_1555459404 |
4 SubmittersRCV000520666RCV001834689RCV002497019RCV003126791RCV003126792 |
NM_000243.3(MEFV):c.1222C>T (p.Arg408Trp)
|
SNV Germline |
Chr16:3249469 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Autoinflammatory syndrome Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA7860213 |
rs_758868622 |
5 SubmittersRCV000540246RCV002263736RCV002506300RCV003126798RCV003126797 |
NM_000243.3(MEFV):c.2163C>T (p.Phe721=)
|
SNV Germline |
Chr16:3243324 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant Inborn genetic diseases Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA7859863 |
rs_11466047 |
7 SubmittersRCV000588308RCV001083427RCV002263740RCV003126805RCV002431547RCV003126806 |
NM_000243.3(MEFV):c.198C>T (p.Ala66=)
|
SNV Germline |
Chr16:3256390 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Condition: not provided Autoinflammatory syndrome |
Criteria Provided Conflicting Classifications |
CA7860511 |
rs_149380763 |
5 SubmittersRCV000549424RCV000589254RCV001712489RCV002263739 |
NM_000243.3(MEFV):c.1898C>T (p.Pro633Leu)
|
SNV Germline |
Chr16:3243589 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA276955244 |
rs_976279218 |
4 SubmittersRCV000534641RCV003126804RCV003126803RCV002490969 |
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys)
|
SNV Germline |
Chr16:3247095 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA7860112 |
rs_190705322 |
9 SubmittersRCV000530643RCV001775848RCV002263738RCV003126801RCV002490968RCV003126802 |
NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu)
|
SNV Germline |
Chr16:3249468 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA394469353 |
rs_11466024 |
7 SubmittersRCV000532782RCV001591200RCV002483374RCV002263737RCV003126800RCV003126799 |
NM_000243.3(MEFV):c.1779T>A (p.Ala593=)
|
SNV Germline |
Chr16:3243873 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Autoinflammatory syndrome |
Criteria Provided Conflicting Classifications |
CA7859929 |
rs_377657099 |
4 SubmittersRCV000585564RCV001401924RCV002263816 |
NM_000243.3(MEFV):c.2271C>T (p.Ser757=)
|
SNV Germline |
Chr16:3243216 |
Conflicting classifications of pathogenicity |
not specified Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis MEFV-related disorder |
Criteria Provided Conflicting Classifications |
CA7859844 |
rs_772754956 |
6 SubmittersRCV000589667RCV000939022RCV001811088RCV002483565RCV003126834RCV003126835RCV004530641 |
NM_000243.3(MEFV):c.1061G>A (p.Arg354Gln)
|
SNV Germline |
Chr16:3249630 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA7860243 |
rs_763015849 |
6 SubmittersRCV000588244RCV000632792RCV001276301RCV002263819RCV002476271RCV003126829 |
NM_000243.3(MEFV):c.1622T>C (p.Val541Ala)
|
SNV Germline |
Chr16:3244577 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA276896167 |
rs_922232615 |
4 SubmittersRCV000587448RCV001829616RCV002476273RCV003126833RCV003126832 |
NM_000243.3(MEFV):c.1587+7G>A
|
SNV Germline |
Chr16:3247009 |
Conflicting classifications of pathogenicity |
not specified Familial Mediterranean fever Condition: not provided |
Criteria Provided Conflicting Classifications |
CA7860098 |
rs_375555497 |
3 SubmittersRCV000590407RCV000927730RCV003117357 |
NM_000243.3(MEFV):c.116G>A (p.Arg39Lys)
|
SNV Germline |
Chr16:3256472 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA7860532 |
rs_141288548 |
5 SubmittersRCV000586069RCV001045327RCV002476272RCV003126830RCV003126831 |
NM_000243.3(MEFV):c.277+6C>T
|
SNV Germline |
Chr16:3256305 |
Conflicting classifications of pathogenicity |
not specified Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Condition: not provided MEFV-related disorder |
Criteria Provided Conflicting Classifications |
CA7860488 |
rs_7199464 |
6 SubmittersRCV000606307RCV000892020RCV001280971RCV003224349RCV003736853RCV004544786 |
NM_000243.3(MEFV):c.1092G>A (p.Pro364=)
|
SNV Germline |
Chr16:3249599 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA7860235 |
rs_11466022 |
5 SubmittersRCV000756332RCV001083401RCV002499046RCV003126886RCV003126885 |
NM_000243.3(MEFV):c.1092G>T (p.Pro364=)
|
SNV Germline |
Chr16:3249599 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Autoinflammatory syndrome Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA7860234 |
rs_11466022 |
6 SubmittersRCV000757452RCV001619816RCV002263850RCV002448947 |
NM_000243.3(MEFV):c.1504G>A (p.Val502Ile)
|
SNV Germline |
Chr16:3247099 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
CA7860114 |
rs_140462252 |
4 SubmittersRCV000632788RCV002507067RCV003126880RCV003126879 |
NM_000243.3(MEFV):c.1780C>T (p.Gln594Ter)
|
SNV Germline |
Chr16:3243872 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
CA7859928 |
rs_780770024 |
4 SubmittersRCV000632791RCV003126882RCV003126881RCV001815355RCV002492960 |
NM_000243.3(MEFV):c.539C>T (p.Pro180Leu)
|
SNV Germline |
Chr16:3254529 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant not specified |
Criteria Provided Conflicting Classifications |
CA276902697 |
rs_104895134 |
4 SubmittersRCV000632793RCV003126884RCV003126883RCV002469226 |
NM_000243.3(MEFV):c.311C>G (p.Ser104Cys)
|
SNV Germline |
Chr16:3254757 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_151306047 |
4 SubmittersRCV000701319RCV003126914RCV003126913RCV002493230 |
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg)
|
SNV Germline |
Chr16:3254737 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant MEFV-related disorder |
Criteria Provided Conflicting Classifications |
|
rs_112739451 |
6 SubmittersRCV000756333RCV001201760RCV003126926RCV002477737RCV003126925RCV004535889 |
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys)
|
SNV Germline |
Chr16:3256338 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_150819742 |
5 SubmittersRCV000779184RCV001002344RCV003465710 |
NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn)
|
SNV Germline |
Chr16:3244556 |
Conflicting classifications of pathogenicity |
not specified Familial Mediterranean fever Condition: not provided Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_550970304 |
6 SubmittersRCV000781531RCV000792803RCV001555989RCV002263975RCV003126935RCV003126934 |
NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp)
|
SNV Germline |
Chr16:3247235 |
Conflicting classifications of pathogenicity |
not specified Familial Mediterranean fever Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
|
rs_1567233429 |
4 SubmittersRCV000780408RCV001825528RCV002263973RCV003126928RCV003126929 |
NM_000243.3(MEFV):c.564C>G (p.Pro188=)
|
SNV Germline |
Chr16:3254504 |
Conflicting classifications of pathogenicity |
not specified Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_775755423 |
3 SubmittersRCV000781526RCV001501166RCV003126933RCV003126932 |
NM_000243.3(MEFV):c.239G>A (p.Arg80His)
|
SNV Germline |
Chr16:3256349 |
Conflicting classifications of pathogenicity |
not specified Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_201075710 |
7 SubmittersRCV000781524RCV001273730RCV001561342RCV003126931RCV003126930RCV002487611 |
NM_000243.3(MEFV):c.1759+7C>T
|
SNV Germline |
Chr16:3244247 |
Conflicting classifications of pathogenicity |
not specified Familial Mediterranean fever Autoinflammatory syndrome |
Criteria Provided Conflicting Classifications |
|
rs_772667365 |
4 SubmittersRCV000780409RCV001825529RCV002263974 |
NM_000243.3(MEFV):c.911-12G>A
|
SNV Germline |
Chr16:3249792 |
Conflicting classifications of pathogenicity |
not specified Condition: not provided Familial Mediterranean fever |
Criteria Provided Conflicting Classifications |
|
rs_372016564 |
3 SubmittersRCV000780407RCV000828031RCV002067369 |
NM_000243.3(MEFV):c.2123G>A (p.Arg708His)
|
SNV Germline |
Chr16:3243364 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis not specified |
Criteria Provided Conflicting Classifications |
|
rs_200375017 |
5 SubmittersRCV000804253RCV001274311RCV002487716RCV003127470RCV003479222 |
NM_000243.3(MEFV):c.1735C>T (p.Arg579Cys)
|
SNV Germline |
Chr16:3244278 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_762605919 |
5 SubmittersRCV000795051RCV001776003RCV002263985RCV003126938RCV003126937 |
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val)
|
SNV Germline |
Chr16:3247071 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_144270019 |
6 SubmittersRCV000801307RCV001193207RCV002501072RCV003126940RCV003126939 |
NM_000243.3(MEFV):c.1151T>C (p.Leu384Pro)
|
SNV Germline |
Chr16:3249540 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_139313647 |
5 SubmittersRCV000820957RCV001281042RCV002487836RCV003127477RCV003127476 |
NM_000243.3(MEFV):c.586G>C (p.Gly196Arg)
|
SNV Germline |
Chr16:3254482 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_104895179 |
4 SubmittersRCV000807223RCV002487732RCV003127472RCV003127471 |
NM_000243.3(MEFV):c.536G>A (p.Ser179Asn)
|
SNV Germline |
Chr16:3254532 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_104895125 |
7 SubmittersRCV000823143RCV001507334RCV003127479RCV003127478 |
NM_000243.3(MEFV):c.1770G>A (p.Leu590=)
|
SNV Germline |
Chr16:3243882 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_139692347 |
3 SubmittersRCV000828867RCV001471489RCV003127484RCV003127483 |
NM_000243.3(MEFV):c.414A>T (p.Gly138=)
|
SNV Germline |
Chr16:3254654 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Inborn genetic diseases Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
|
rs_224224 |
6 SubmittersRCV000829179RCV001088841RCV002501163RCV003127485RCV004029209RCV003127486 |
NM_000243.3(MEFV):c.948C>T (p.His316=)
|
SNV Germline |
Chr16:3249743 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Autoinflammatory syndrome Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_150252937 |
6 SubmittersRCV000875656RCV001712821RCV002264037RCV002372487 |
NM_000243.3(MEFV):c.1610+10G>T
|
SNV Germline |
Chr16:3246515 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
|
rs_11466033 |
4 SubmittersRCV000875053RCV001193205RCV001692309 |
NM_000243.3(MEFV):c.1038C>G (p.Gly346=)
|
SNV Germline |
Chr16:3249653 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Inborn genetic diseases MEFV-related disorder |
Criteria Provided Conflicting Classifications |
|
rs_141090517 |
5 SubmittersRCV000907142RCV002390892RCV004531049 |
NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys)
|
SNV Germline |
Chr16:3243338 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Autoinflammatory syndrome MEFV-related disorder |
Criteria Provided Conflicting Classifications |
|
rs_104895192 |
5 SubmittersRCV000916352RCV001310310RCV002264090RCV004543438 |
NM_000243.3(MEFV):c.801A>G (p.Thr267=)
|
SNV Germline |
Chr16:3254267 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_141455838 |
4 SubmittersRCV000925002RCV002416152 |
NM_000243.3(MEFV):c.48G>A (p.Leu16=)
|
SNV Germline |
Chr16:3256540 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_777381107 |
6 SubmittersRCV000914758RCV001655645RCV002505350RCV003127546RCV003127545RCV003307683 |
NM_000243.3(MEFV):c.1344A>C (p.Ala448=)
|
SNV Germline |
Chr16:3248921 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_143337771 |
4 SubmittersRCV000939111RCV002489258RCV003127550RCV003127549 |
NM_000243.3(MEFV):c.456G>A (p.Gly152=)
|
SNV Germline |
Chr16:3254612 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
|
rs_368333568 |
4 SubmittersRCV001417548RCV002502861RCV003127547RCV003127548 |
NM_000243.3(MEFV):c.416C>A (p.Ala139Asp)
|
SNV Germline |
Chr16:3254652 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_575678784 |
4 SubmittersRCV000932960RCV002307644RCV002505387 |
NM_000243.3(MEFV):c.344C>G (p.Pro115Arg)
|
SNV Germline |
Chr16:3254724 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided |
Criteria Provided Conflicting Classifications |
|
rs_201766654 |
3 SubmittersRCV000941478RCV001811542 |
NM_000243.3(MEFV):c.231C>A (p.Ile77=)
|
SNV Germline |
Chr16:3256357 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis MEFV-related disorder |
Criteria Provided Conflicting Classifications |
|
rs_139899201 |
5 SubmittersRCV000939112RCV001655646RCV002502875RCV003127551RCV003127552RCV004543517 |
NM_000243.3(MEFV):c.1899G>A (p.Pro633=)
|
SNV Germline |
Chr16:3243588 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
|
rs_776315170 |
4 SubmittersRCV000977151RCV002503116RCV003127559RCV003127560 |
NM_000243.3(MEFV):c.2150G>T (p.Arg717Leu)
|
SNV Germline |
Chr16:3243337 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_545517350 |
6 SubmittersRCV000989472RCV001002516RCV002479155RCV003127564RCV003127563 |
NM_000243.3(MEFV):c.2150G>A (p.Arg717His)
|
SNV Germline |
Chr16:3243337 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_545517350 |
4 SubmittersRCV000989473RCV002488080RCV003127566RCV003127565 |
NM_000243.3(MEFV):c.1895G>C (p.Gly632Ala)
|
SNV Germline |
Chr16:3243592 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
|
rs_967990798 |
3 SubmittersRCV000989476RCV003127567RCV003127568 |
NM_000243.3(MEFV):c.1889C>T (p.Pro630Leu)
|
SNV Germline |
Chr16:3243598 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
|
rs_376579860 |
5 SubmittersRCV000989477RCV002489460RCV003127569RCV003127570 |
NM_000243.3(MEFV):c.1773T>G (p.Ile591Met)
|
SNV Germline |
Chr16:3243879 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_141706767 |
5 SubmittersRCV000989480RCV003127572RCV003127571 |
NM_000243.3(MEFV):c.1996A>T (p.Ile666Phe)
|
SNV Germline |
Chr16:3243491 |
Conflicting classifications of pathogenicity |
not specified Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
|
rs_387907566 |
5 SubmittersRCV001002108RCV001827156RCV003127580RCV002481799RCV003127581 |
NM_000243.3(MEFV):c.490A>C (p.Lys164Gln)
|
SNV Germline |
Chr16:3254578 |
Conflicting classifications of pathogenicity |
not specified Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
|
rs_1306636942 |
4 SubmittersRCV001002490RCV001218918RCV003127583RCV003127582RCV002505532 |
NM_000243.3(MEFV):c.2111T>G (p.Val704Gly)
|
SNV Germline |
Chr16:3243376 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
|
rs_748891586 |
4 SubmittersRCV001048846RCV002479296RCV003127602RCV003127603 |
NM_000243.3(MEFV):c.2065T>C (p.Trp689Arg)
|
SNV Germline |
Chr16:3243422 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_566082564 |
4 SubmittersRCV001065311RCV002482093RCV003127615RCV003127614 |
NM_000243.3(MEFV):c.1681C>T (p.His561Tyr)
|
SNV Germline |
Chr16:3244518 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
|
rs_952604863 |
4 SubmittersRCV001071930RCV002489718RCV003127622RCV003127623 |
NM_000243.3(MEFV):c.1522C>G (p.Leu508Val)
|
SNV Germline |
Chr16:3247081 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Condition: not provided Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
|
rs_199937453 |
4 SubmittersRCV001066615RCV001274313RCV001811638RCV003127618 |
NM_000243.3(MEFV):c.973G>A (p.Gly325Ser)
|
SNV Germline |
Chr16:3249718 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_146862274 |
4 SubmittersRCV001058593RCV002505619RCV003127610RCV003127609 |
NM_000243.3(MEFV):c.828A>C (p.Glu276Asp)
|
SNV Germline |
Chr16:3254240 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_775020273 |
4 SubmittersRCV001052237RCV002505600RCV003127606RCV003127605 |
NM_000243.3(MEFV):c.548C>T (p.Pro183Leu)
|
SNV Germline |
Chr16:3254520 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Inborn genetic diseases Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_777009752 |
6 SubmittersRCV001054872RCV002348409RCV002497422RCV003127608RCV003127607 |
NM_000243.3(MEFV):c.405C>G (p.Tyr135Ter)
|
SNV Germline |
Chr16:3254663 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
|
rs_766323718 |
3 SubmittersRCV001065276RCV002505642RCV003127612RCV003127613 |
NM_000243.3(MEFV):c.808A>G (p.Asn270Asp)
|
SNV Germline |
Chr16:3254260 |
Conflicting classifications of pathogenicity |
Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever |
Criteria Provided Conflicting Classifications |
|
rs_753623518 |
3 SubmittersRCV001090251RCV002489726RCV003127626RCV003127627RCV003127625 |
NM_000243.3(MEFV):c.*190G>C
|
SNV Germline |
Chr16:3242951 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided |
Criteria Provided Conflicting Classifications |
|
rs_114930858 |
2 SubmittersRCV001117675RCV001564541 |
NM_000243.3(MEFV):c.2068G>C (p.Val690Leu)
|
SNV Germline |
Chr16:3243419 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever |
Criteria Provided Conflicting Classifications |
|
rs_1281153557 |
3 SubmittersRCV001121251RCV003127636RCV003127635RCV002491374 |
NM_000243.3(MEFV):c.1758T>C (p.Asn586=)
|
SNV Germline |
Chr16:3244255 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_202228332 |
5 SubmittersRCV001116331RCV003127634RCV003127633 |
NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr)
|
SNV Germline |
Chr16:3249586 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_11466023 |
6 SubmittersRCV001121353RCV001174702RCV002482225RCV003127638RCV003127637 |
NM_000243.3(MEFV):c.1356+11A>C
|
SNV Germline |
Chr16:3248898 |
Conflicting classifications of pathogenicity |
not specified Familial Mediterranean fever |
Criteria Provided Conflicting Classifications |
|
rs_548648384 |
2 SubmittersRCV001174703RCV002068125 |
NM_000243.3(MEFV):c.1501C>T (p.Arg501Cys)
|
SNV Germline |
Chr16:3247102 |
Conflicting classifications of pathogenicity |
not specified Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_104895101 |
4 SubmittersRCV001175537RCV001833735RCV002505757RCV003127674RCV003127673 |
NM_000243.3(MEFV):c.1261-13G>A
|
SNV Germline |
Chr16:3249017 |
Conflicting classifications of pathogenicity |
not specified Familial Mediterranean fever |
Criteria Provided Conflicting Classifications |
|
rs_778114467 |
2 SubmittersRCV001192543RCV002069202 |
NM_000243.3(MEFV):c.1324T>A (p.Ser442Thr)
|
SNV Germline |
Chr16:3248941 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_779558690 |
4 SubmittersRCV001216264RCV002480711RCV003127691RCV003127690 |
NM_000243.3(MEFV):c.574A>G (p.Arg192Gly)
|
SNV Germline |
Chr16:3254494 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_745839954 |
4 SubmittersRCV001207798RCV001812251RCV003127683RCV003127682 |
NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn)
|
SNV Germline |
Chr16:3247075 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_200557537 |
7 SubmittersRCV001228467RCV002504301RCV003127706RCV003127705 |
NM_000243.3(MEFV):c.566G>T (p.Gly189Val)
|
SNV Germline |
Chr16:3254502 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_923516953 |
3 SubmittersRCV001225884RCV002497768RCV003127700RCV003127699 |
NM_000243.3(MEFV):c.2117C>T (p.Pro706Leu)
|
SNV Germline |
Chr16:3243370 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_202174893 |
4 SubmittersRCV001246070RCV002484375RCV003127728RCV003127727 |
NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys)
|
SNV Germline |
Chr16:3248913 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_1958986915 |
4 SubmittersRCV001238979RCV001532318RCV003127715RCV003127714 |
NM_000243.3(MEFV):c.623G>C (p.Ser208Thr)
|
SNV Germline |
Chr16:3254445 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis not specified |
Criteria Provided Conflicting Classifications |
|
rs_759326778 |
4 SubmittersRCV001247261RCV002264251RCV003127733RCV003127734RCV003235515 |
NM_000243.3(MEFV):c.497C>T (p.Ser166Leu)
|
SNV Germline |
Chr16:3254571 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_766670643 |
5 SubmittersRCV001240669RCV002480800RCV003127720RCV003127719 |
NM_000243.3(MEFV):c.214C>T (p.Gln72Ter)
|
SNV Germline |
Chr16:3256374 |
Pathogenic |
Familial Mediterranean fever |
Criteria Provided Single Submitter |
|
rs_1959115414 |
1 SubmittersRCV001247730 |
NM_000243.3(MEFV):c.378G>T (p.Gly126=)
|
SNV Germline |
Chr16:3254690 |
Conflicting classifications of pathogenicity |
not specified Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_777867857 |
4 SubmittersRCV001264477RCV001339993RCV003127741RCV003127740 |
NM_000243.3(MEFV):c.1759+12G>A
|
SNV Germline |
Chr16:3244242 |
Conflicting classifications of pathogenicity |
not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_749730274 |
4 SubmittersRCV001280658RCV003127750RCV003127748RCV003127749RCV002499490 |
NM_000243.3(MEFV):c.342G>A (p.Lys114=)
|
SNV Germline |
Chr16:3254726 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
|
rs_981883034 |
5 SubmittersRCV001812486RCV001835362RCV002499494RCV003127754RCV003127755 |
NM_000243.3(MEFV):c.202C>T (p.Gln68Ter)
|
SNV Germline |
Chr16:3256386 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_768473920 |
3 SubmittersRCV001813117RCV002493511RCV003127758RCV003127756RCV003127757 |
NM_000243.3(MEFV):c.520A>G (p.Lys174Glu)
|
SNV Germline |
Chr16:3254548 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
|
rs_777199024 |
3 SubmittersRCV001303574RCV002486172RCV003127776RCV003127777 |
NM_000243.3(MEFV):c.475A>G (p.Ser159Gly)
|
SNV Germline |
Chr16:3254593 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_797001768 |
4 SubmittersRCV001309521RCV002476432RCV003127789RCV003127788 |
NM_000243.3(MEFV):c.319T>G (p.Ser107Ala)
|
SNV Germline |
Chr16:3254749 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
|
rs_756029520 |
4 SubmittersRCV001307126RCV002476413RCV003127786RCV003127787 |
NM_000243.3(MEFV):c.199G>A (p.Val67Met)
|
SNV Germline |
Chr16:3256389 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_1422054832 |
4 SubmittersRCV001310311RCV001871759RCV002476438RCV003127791RCV003127790 |
NM_000243.3(MEFV):c.839G>A (p.Arg280Lys)
|
SNV Germline |
Chr16:3254229 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_1437746739 |
4 SubmittersRCV001339143RCV002264271RCV003127815RCV003127814 |
NM_000243.3(MEFV):c.1957C>A (p.Arg653Ser)
|
SNV Germline |
Chr16:3243530 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_375716505 |
3 SubmittersRCV001372413RCV002488177RCV003127849RCV003127848 |
NM_000243.3(MEFV):c.268G>C (p.Ala90Pro)
|
SNV Germline |
Chr16:3256320 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_376971129 |
4 SubmittersRCV001360070RCV003127832RCV003127833RCV002504590 |
NM_000243.3(MEFV):c.149C>T (p.Pro50Leu)
|
SNV Germline |
Chr16:3256439 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_144716190 |
4 SubmittersRCV001374636RCV002488189RCV003127857RCV003127856 |
NM_000243.3(MEFV):c.150G>A (p.Pro50=)
|
SNV Germline |
Chr16:3256438 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Autoinflammatory syndrome |
Criteria Provided Conflicting Classifications |
|
rs_376952748 |
2 SubmittersRCV001395412RCV002264296 |
NM_000243.3(MEFV):c.99G>A (p.Val33=)
|
SNV Germline |
Chr16:3256489 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Autoinflammatory syndrome MEFV-related disorder |
Criteria Provided Conflicting Classifications |
|
rs_767848974 |
3 SubmittersRCV001424380RCV002264309RCV004540301 |
NM_000243.3(MEFV):c.1677C>T (p.Leu559=)
|
SNV Germline |
Chr16:3244522 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Acute febrile neutrophilic dermatosis Inborn genetic diseases Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_144672997 |
3 SubmittersRCV001476425RCV003127954RCV002405127RCV003127953 |
NM_000243.3(MEFV):c.1533G>A (p.Ala511=)
|
SNV Germline |
Chr16:3247070 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_771061550 |
3 SubmittersRCV001453535RCV002506530RCV003127922RCV003127921 |
NM_000243.3(MEFV):c.765A>G (p.Ala255=)
|
SNV Germline |
Chr16:3254303 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_771714168 |
3 SubmittersRCV001477286RCV002501648RCV003127956RCV003127955 |
NM_000243.3(MEFV):c.1401G>A (p.Glu467=)
|
SNV Germline |
Chr16:3247202 |
Conflicting classifications of pathogenicity |
Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever |
Criteria Provided Conflicting Classifications |
|
rs_1398639205 |
3 SubmittersRCV003127976RCV002495762RCV003127975RCV001500707 |
NM_000243.3(MEFV):c.1005C>T (p.Pro335=)
|
SNV Germline |
Chr16:3249686 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Inborn genetic diseases Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_567739580 |
3 SubmittersRCV001486338RCV002414178RCV003127962RCV003127961 |
NM_000243.3(MEFV):c.840G>A (p.Arg280=)
|
SNV Germline |
Chr16:3254228 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Autoinflammatory syndrome |
Criteria Provided Conflicting Classifications |
|
rs_748624682 |
2 SubmittersRCV001489672RCV002264351 |
NM_000243.3(MEFV):c.192G>A (p.Glu64=)
|
SNV Germline |
Chr16:3256396 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_547393490 |
4 SubmittersRCV001486689RCV002495726RCV003127964RCV003127963RCV002414179 |
NM_000243.3(MEFV):c.1510C>T (p.Gln504Ter)
|
SNV Unknown |
Chr16:3247093 |
Pathogenic |
Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Single Submitter |
|
rs_886082025 |
1 SubmittersRCV001535884 |
NM_000243.3(MEFV):c.431G>A (p.Cys144Tyr)
|
SNV Germline |
Chr16:3254637 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_773320625 |
4 SubmittersRCV001549976RCV001827457RCV003127990RCV003127989 |
NM_000243.3(MEFV):c.656G>A (p.Gly219Asp)
|
SNV Germline |
Chr16:3254412 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
|
rs_752973530 |
3 SubmittersRCV001757430RCV003125902RCV003125901RCV002503238RCV003125903 |
NM_000243.3(MEFV):c.1024C>T (p.Pro342Ser)
|
SNV Germline |
Chr16:3249667 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_774397209 |
3 SubmittersRCV001779667RCV001868828RCV003125905RCV003125904 |
NM_000243.3(MEFV):c.2287G>A (p.Gly763Arg)
|
SNV Germline |
Chr16:3243200 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
|
rs_2141664466 |
3 SubmittersRCV001785241RCV001885199RCV003125906 |
NM_000243.3(MEFV):c.1130G>A (p.Arg377His)
|
SNV Germline |
Chr16:3249561 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_144998416 |
3 SubmittersRCV001816168RCV001869640RCV003125914RCV003125913 |
NM_000243.3(MEFV):c.985C>T (p.Arg329Cys)
|
SNV Germline |
Chr16:3249706 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_757216434 |
3 SubmittersRCV001897894RCV002482663RCV003125954RCV003125953 |
NM_000243.3(MEFV):c.1685A>G (p.Gln562Arg)
|
SNV Germline |
Chr16:3244514 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
|
rs_1033941048 |
3 SubmittersRCV001990757RCV002507721RCV003126049RCV003126050 |
NM_000243.3(MEFV):c.2078T>C (p.Met693Thr)
|
SNV Germline |
Chr16:3243409 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_749052818 |
3 SubmittersRCV001974306RCV002492214RCV003126062RCV003126061 |
NM_000243.3(MEFV):c.608T>C (p.Leu203Pro)
|
SNV Germline |
Chr16:3254460 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
|
rs_1959084389 |
3 SubmittersRCV001995528RCV002264442RCV003126069RCV003126070 |
NM_000243.3(MEFV):c.68A>G (p.Lys23Arg)
|
SNV Germline |
Chr16:3256520 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_754679070 |
3 SubmittersRCV001896285RCV002506976RCV003125958RCV003125957 |
NM_000243.3(MEFV):c.933G>A (p.Ala311=)
|
SNV Germline |
Chr16:3249758 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_774547197 |
3 SubmittersRCV002208387RCV002502028RCV003126200RCV003126199 |
NM_000243.3(MEFV):c.1261-10G>C
|
SNV Germline |
Chr16:3249014 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Autoinflammatory syndrome |
Criteria Provided Conflicting Classifications |
|
rs_767528614 |
2 SubmittersRCV002121853RCV002264467 |
NM_000243.3(MEFV):c.1782G>A (p.Gln594=)
|
SNV Germline |
Chr16:3243870 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Condition: not provided |
Criteria Provided Conflicting Classifications |
|
rs_144122901 |
2 SubmittersRCV002148999RCV003120833 |
NM_000243.3(MEFV):c.426G>C (p.Leu142=)
|
SNV Germline |
Chr16:3254642 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_1465332482 |
3 SubmittersRCV002113550RCV002499997RCV003126159RCV003126158 |
NM_000243.3(MEFV):c.1485G>A (p.Arg495=)
|
SNV Germline |
Chr16:3247118 |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever Inborn genetic diseases Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant |
Criteria Provided Conflicting Classifications |
|
rs_1012455878 |
3 SubmittersRCV002137932RCV002391317RCV003126183RCV003126182 |
NM_000243.3(MEFV):c.298G>C (p.Gly100Arg)
|
SNV Germline |
Chr16:3254770 |
Conflicting classifications of pathogenicity |
Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis |
Criteria Provided Conflicting Classifications |
|
rs_772332566 |
4 SubmittersRCV002262060RCV002502075RCV003095938RCV003126208RCV003126209 |
NM_000243.3(MEFV):c.390C>T (p.Asn130=)
|
SNV Germline |
Chr16:3254678 |
Conflicting classifications of pathogenicity |
Autoinflammatory syndrome Familial Mediterranean fever |
Criteria Provided Conflicting Classifications |
|
rs_780976880 |
2 SubmittersRCV002262063RCV003774818 |