LOC126862264 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521) - Rat Genome Database

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Gene: LOC126862264 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521) Homo sapiens
Analyze
Symbol: LOC126862264
Name: CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521
RGD ID: 155227630
Description: This genomic region was validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay in HCT116 colorectal carcinoma cells. This sequence was defined as a group 2 enhancer that depends on the BRD2, BRD4, P300/CBP, MED14 and CDK7 cofactors, with strong dependence on CDK7. [provided by RefSeq, Sep 2022]
Type: biological-region
RefSeq Status: REVIEWED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38163,243,322 - 3,244,521 (+)NCBIGRCh38GRCh38hg38GRCh38
T2T-CHM13v2.0163,270,382 - 3,271,581 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View
References
Additional References at PubMed
PMID:35650434  


Genomics

Variants

.
Variants in LOC126862264
231 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000243.3(MEFV):c.2121C>T (p.Thr707=) single nucleotide variant Familial Mediterranean fever [RCV001953570] Chr16:3243366 [GRCh38]
Chr16:3293366 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.2109C>T (p.Ser703=) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003126446]|Familial Mediterranean fever [RCV000083745]|Familial Mediterranean fever [RCV002498440]|Familial Mediterranean fever, autosomal dominant [RCV003126445]|not provided [RCV001539987] Chr16:3243378 [GRCh38]
Chr16:3293378 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000243.3(MEFV):c.2045dup (p.Ser683fs) duplication Familial Mediterranean fever [RCV001935450]|not provided [RCV003223738] Chr16:3243441..3243442 [GRCh38]
Chr16:3293441..3293442 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.2163C>T (p.Phe721=) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003126806]|Autoinflammatory syndrome [RCV002263740]|Familial Mediterranean fever [RCV001083427]|Familial Mediterranean fever, autosomal dominant [RCV003126805]|Inborn genetic diseases [RCV002431547]|not provided [RCV000588308] Chr16:3243324 [GRCh38]
Chr16:3293324 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) deletion Autoinflammatory syndrome [RCV002262640]|Familial Mediterranean fever [RCV000083737]|Familial Mediterranean fever, autosomal dominant [RCV003460764]|not provided [RCV000487146] Chr16:3243409..3243411 [GRCh38]
Chr16:3293409..3293411 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) single nucleotide variant Autoinflammatory syndrome [RCV002262549]|Familial Mediterranean fever [RCV000002659]|Familial Mediterranean fever [RCV001269325]|Familial Mediterranean fever, autosomal dominant [RCV001283820]|not provided [RCV000216518] Chr16:3243447 [GRCh38]
Chr16:3293447 [GRCh37]
Chr16:16p13.3		 pathogenic|conflicting interpretations of pathogenicity|no classifications from unflagged records
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) single nucleotide variant Autoinflammatory syndrome [RCV002262546]|Familial Mediterranean fever [RCV000002656]|Familial Mediterranean fever [RCV000768021]|Familial Mediterranean fever [RCV003224087]|Familial Mediterranean fever, autosomal dominant [RCV003389035]|Heart, malformation of [RCV001270033]|Inborn genetic diseases [RCV000622573]|Syncope [RCV000415431]|not provided [RCV000213470]|not specified [RCV000508192] Chr16:3243403 [GRCh38]
Chr16:3293403 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000243.3(MEFV):c.1730C>T (p.Thr577Ile) single nucleotide variant Familial Mediterranean fever [RCV001965702] Chr16:3244283 [GRCh38]
Chr16:3294283 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1758T>C (p.Asn586=) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003127634]|Familial Mediterranean fever [RCV001116331]|Familial Mediterranean fever, autosomal dominant [RCV003127633] Chr16:3244255 [GRCh38]
Chr16:3294255 [GRCh37]
Chr16:16p13.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000243.3(MEFV):c.2158A>G (p.Ile720Val) single nucleotide variant Familial Mediterranean fever [RCV001121250] Chr16:3243329 [GRCh38]
Chr16:3293329 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1945C>G (p.Leu649Val) single nucleotide variant Familial Mediterranean fever [RCV001949938] Chr16:3243542 [GRCh38]
Chr16:3293542 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys) single nucleotide variant Autoinflammatory syndrome [RCV002264090]|Familial Mediterranean fever [RCV000916352]|MEFV-related condition [RCV003958383]|not provided [RCV001310310] Chr16:3243338 [GRCh38]
Chr16:3293338 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_000243.3(MEFV):c.1996A>T (p.Ile666Phe) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003127581]|Familial Mediterranean fever [RCV001827156]|Familial Mediterranean fever [RCV002481799]|Familial Mediterranean fever, autosomal dominant [RCV003127580]|not specified [RCV001002108] Chr16:3243491 [GRCh38]
Chr16:3293491 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_000243.3(MEFV):c.1727-61A>G single nucleotide variant not provided [RCV001549608] Chr16:3244347 [GRCh38]
Chr16:3294347 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.2078T>C (p.Met693Thr) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003126062]|Familial Mediterranean fever [RCV001974306]|Familial Mediterranean fever [RCV002492214]|Familial Mediterranean fever, autosomal dominant [RCV003126061] Chr16:3243409 [GRCh38]
Chr16:3293409 [GRCh37]
Chr16:16p13.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000243.3(MEFV):c.2068G>C (p.Val690Leu) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003127636]|Familial Mediterranean fever [RCV001121251]|Familial Mediterranean fever [RCV002491374]|Familial Mediterranean fever, autosomal dominant [RCV003127635] Chr16:3243419 [GRCh38]
Chr16:3293419 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_000243.3(MEFV):c.2044_2045del (p.Leu682fs) microsatellite Acute febrile neutrophilic dermatosis [RCV003126912]|Familial Mediterranean fever [RCV000700800]|Familial Mediterranean fever [RCV002477610]|Familial Mediterranean fever, autosomal dominant [RCV003126911] Chr16:3243442..3243443 [GRCh38]
Chr16:3293442..3293443 [GRCh37]
Chr16:16p13.3		 likely pathogenic|likely benign|uncertain significance
NM_000243.3(MEFV):c.1942T>C (p.Phe648Leu) single nucleotide variant Familial Mediterranean fever [RCV001942812] Chr16:3243545 [GRCh38]
Chr16:3293545 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.2111T>G (p.Val704Gly) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003127603]|Familial Mediterranean fever [RCV001048846]|Familial Mediterranean fever [RCV002479296]|Familial Mediterranean fever, autosomal dominant [RCV003127602] Chr16:3243376 [GRCh38]
Chr16:3293376 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_000243.3(MEFV):c.2031A>G (p.Lys677=) single nucleotide variant Familial Mediterranean fever [RCV002093781] Chr16:3243456 [GRCh38]
Chr16:3293456 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1681C>T (p.His561Tyr) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003127623]|Familial Mediterranean fever [RCV001071930]|Familial Mediterranean fever [RCV002489718]|Familial Mediterranean fever, autosomal dominant [RCV003127622] Chr16:3244518 [GRCh38]
Chr16:3294518 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_000243.3(MEFV):c.2141C>T (p.Pro714Leu) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003126641]|Familial Mediterranean fever [RCV002500741]|Familial Mediterranean fever [RCV003126639]|Familial Mediterranean fever, autosomal dominant [RCV003126640]|not provided [RCV000219567] Chr16:3243346 [GRCh38]
Chr16:3293346 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_000243.3(MEFV):c.2150G>A (p.Arg717His) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003127566]|Familial Mediterranean fever [RCV000989473]|Familial Mediterranean fever [RCV002488080]|Familial Mediterranean fever, autosomal dominant [RCV003127565] Chr16:3243337 [GRCh38]
Chr16:3293337 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del) microsatellite Familial Mediterranean fever [RCV000083740]|Familial Mediterranean fever, autosomal dominant [RCV000002665]|not provided [RCV000757455] Chr16:3243404..3243406 [GRCh38]
Chr16:3293404..3293406 [GRCh37]
Chr16:16p13.3		 pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000243.3(MEFV):c.2123G>A (p.Arg708His) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003127470]|Familial Mediterranean fever [RCV000804253]|Familial Mediterranean fever [RCV002487716]|Familial Mediterranean fever, autosomal dominant [RCV001274311]|not specified [RCV003479222] Chr16:3243364 [GRCh38]
Chr16:3293364 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_000243.3(MEFV):c.2147A>T (p.Lys716Met) single nucleotide variant Familial Mediterranean fever [RCV000989474] Chr16:3243340 [GRCh38]
Chr16:3293340 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1895G>C (p.Gly632Ala) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003127568]|Familial Mediterranean fever [RCV000989476]|Familial Mediterranean fever, autosomal dominant [RCV003127567] Chr16:3243592 [GRCh38]
Chr16:3293592 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_000243.3(MEFV):c.1933T>C (p.Ser645Pro) single nucleotide variant Familial Mediterranean fever [RCV002024878] Chr16:3243554 [GRCh38]
Chr16:3293554 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1898C>T (p.Pro633Leu) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003126804]|Familial Mediterranean fever [RCV000534641]|Familial Mediterranean fever [RCV002490969]|Familial Mediterranean fever, autosomal dominant [RCV003126803] Chr16:3243589 [GRCh38]
Chr16:3293589 [GRCh37]
Chr16:16p13.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000243.3(MEFV):c.1780C>T (p.Gln594Ter) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003126882]|Familial Mediterranean fever [RCV000632791]|Familial Mediterranean fever [RCV002492960]|Familial Mediterranean fever, autosomal dominant [RCV003126881]|not provided [RCV001815355] Chr16:3243872 [GRCh38]
Chr16:3293872 [GRCh37]
Chr16:16p13.3		 likely pathogenic|likely benign|uncertain significance
NM_000243.3(MEFV):c.1759+12G>A single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003127750]|Familial Mediterranean fever [RCV002499490]|Familial Mediterranean fever [RCV003127748]|Familial Mediterranean fever, autosomal dominant [RCV003127749]|not specified [RCV001280658] Chr16:3244242 [GRCh38]
Chr16:3294242 [GRCh37]
Chr16:16p13.3		 benign|likely benign|uncertain significance
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) single nucleotide variant Autoinflammatory syndrome [RCV002262540]|Familial Mediterranean fever [RCV000002648]|Familial Mediterranean fever [RCV000763380]|Familial Mediterranean fever, autosomal dominant [RCV000589706]|MEFV-related condition [RCV003407260]|not provided [RCV000220431] Chr16:3243405 [GRCh38]
Chr16:3293405 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000243.3(MEFV):c.1792G>A (p.Val598Ile) single nucleotide variant Familial Mediterranean fever [RCV001204834] Chr16:3243860 [GRCh38]
Chr16:3293860 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp) single nucleotide variant Familial Mediterranean fever [RCV000049558]|not provided [RCV000216370] Chr16:3243427 [GRCh38]
Chr16:3293427 [GRCh37]
Chr16:16p13.3		 pathogenic|uncertain significance|not provided
NM_000243.3(MEFV):c.2048C>T (p.Ser683Leu) single nucleotide variant Familial Mediterranean fever [RCV001212071] Chr16:3243439 [GRCh38]
Chr16:3293439 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3(chr16:2494804-3246579)x1 copy number loss See cases [RCV000053269] Chr16:2494804..3246579 [GRCh38]
Chr16:2544805..3296579 [GRCh37]
Chr16:2484806..3236580 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1 copy number loss See cases [RCV000053270] Chr16:2850734..7110697 [GRCh38]
Chr16:2900735..7160698 [GRCh37]
Chr16:2840736..7100699 [NCBI36]
Chr16:16p13.3		 pathogenic
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV001197704]|Autoinflammatory syndrome [RCV002262539]|Brachydactyly [RCV000735306]|Cryptorchidism [RCV000735284]|Familial Mediterranean fever [RCV000002647]|Familial Mediterranean fever [RCV000763381]|Familial Mediterranean fever [RCV001535935]|Familial Mediterranean fever, autosomal dominant [RCV001028046]|Inborn genetic diseases [RCV002415387]|MEFV-related disorders [RCV003335011]|Recurrent fever [RCV003325449]|not provided [RCV000216751] Chr16:3243407 [GRCh38]
Chr16:3293407 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000243.3(MEFV):c.1886dup (p.Pro630fs) duplication Acute febrile neutrophilic dermatosis [RCV003126630]|Familial Mediterranean fever [RCV000801477]|Familial Mediterranean fever [RCV002485439]|Familial Mediterranean fever, autosomal dominant [RCV003126629]|not provided [RCV000223444]|not specified [RCV003226258] Chr16:3243600..3243601 [GRCh38]
Chr16:3293600..3293601 [GRCh37]
Chr16:16p13.3		 likely pathogenic|likely benign|uncertain significance
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003126434]|Autoinflammatory syndrome [RCV002262634]|Familial Mediterranean fever [RCV000083708]|Familial Mediterranean fever [RCV002483161]|Familial Mediterranean fever, autosomal dominant [RCV003126433]|not specified [RCV003488380] Chr16:3244269 [GRCh38]
Chr16:3294269 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance|not provided
NM_000243.3(MEFV):c.2033G>A (p.Gly678Glu) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003126442]|Familial Mediterranean fever [RCV000083731]|Familial Mediterranean fever [RCV002498439]|Familial Mediterranean fever, autosomal dominant [RCV003126441]|not provided [RCV000414076] Chr16:3243454 [GRCh38]
Chr16:3293454 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance|not provided
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
NM_000243.3(MEFV):c.1793-16C>G single nucleotide variant Familial Mediterranean fever [RCV003497840]|not specified [RCV000237024] Chr16:3243710 [GRCh38]
Chr16:3293710 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1759+15A>G single nucleotide variant Familial Mediterranean fever [RCV002131479] Chr16:3244239 [GRCh38]
Chr16:3294239 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1760-123A>G single nucleotide variant not provided [RCV002211338] Chr16:3244015 [GRCh38]
Chr16:3294015 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1727-12C>T single nucleotide variant Familial Mediterranean fever [RCV002162471] Chr16:3244298 [GRCh38]
Chr16:3294298 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1760-4G>A single nucleotide variant Autoinflammatory syndrome [RCV002262635]|Familial Mediterranean fever [RCV000083710]|not provided [RCV001572991]|not specified [RCV000246189] Chr16:3243896 [GRCh38]
Chr16:3293896 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000243.3(MEFV):c.1779T>A (p.Ala593=) single nucleotide variant Autoinflammatory syndrome [RCV002263816]|Familial Mediterranean fever [RCV001401924]|not provided [RCV000585564] Chr16:3243873 [GRCh38]
Chr16:3293873 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000243.3(MEFV):c.1759+18G>A single nucleotide variant not specified [RCV000616388] Chr16:3244236 [GRCh38]
Chr16:3294236 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1764= (p.Pro588=) single nucleotide variant Familial Mediterranean fever [RCV000545730]|not provided [RCV001812066]|not specified [RCV000126738] Chr16:3243888 [GRCh38]
Chr16:3293888 [GRCh37]
Chr16:16p13.3		 benign
NM_000243.3(MEFV):c.1727-7A>G single nucleotide variant Familial Mediterranean fever [RCV002111379] Chr16:3244293 [GRCh38]
Chr16:3294293 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1783G>A (p.Ala595Thr) single nucleotide variant Familial Mediterranean fever [RCV001062969] Chr16:3243869 [GRCh38]
Chr16:3293869 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) single nucleotide variant Familial Mediterranean fever [RCV000002662]|Familial Mediterranean fever, autosomal dominant [RCV003466788]|not provided [RCV000255083] Chr16:3243529 [GRCh38]
Chr16:3293529 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000243.3(MEFV):c.1927C>T (p.Leu643=) single nucleotide variant Familial Mediterranean fever [RCV002711980] Chr16:3243560 [GRCh38]
Chr16:3293560 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1792+57C>T single nucleotide variant Familial Mediterranean fever [RCV000083714] Chr16:3243803 [GRCh38]
Chr16:3293803 [GRCh37]
Chr16:16p13.3		 not provided
NM_000243.3(MEFV):c.1793-14A>G single nucleotide variant Familial Mediterranean fever [RCV000083715] Chr16:3243708 [GRCh38]
Chr16:3293708 [GRCh37]
Chr16:16p13.3		 not provided
NM_000243.3(MEFV):c.1818C>T (p.Thr606=) single nucleotide variant Familial Mediterranean fever [RCV000083717] Chr16:3243669 [GRCh38]
Chr16:3293669 [GRCh37]
Chr16:16p13.3		 likely benign|not provided
NM_000243.3(MEFV):c.1921A>T (p.Ile641Phe) single nucleotide variant Familial Mediterranean fever [RCV000083721] Chr16:3243566 [GRCh38]
Chr16:3293566 [GRCh37]
Chr16:16p13.3		 not provided
NM_000243.3(MEFV):c.1956C>A (p.Arg652=) single nucleotide variant Autoinflammatory syndrome [RCV002262637]|Familial Mediterranean fever [RCV000083725] Chr16:3243531 [GRCh38]
Chr16:3293531 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance|not provided
NM_000243.3(MEFV):c.1981G>A (p.Asp661Asn) single nucleotide variant Familial Mediterranean fever [RCV000083729] Chr16:3243506 [GRCh38]
Chr16:3293506 [GRCh37]
Chr16:16p13.3		 not provided
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu) single nucleotide variant Familial Mediterranean fever [RCV000083732] Chr16:3243449 [GRCh38]
Chr16:3293449 [GRCh37]
Chr16:16p13.3		 likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000243.3(MEFV):c.2084A>T (p.Lys695Met) single nucleotide variant Familial Mediterranean fever [RCV000083741] Chr16:3243403 [GRCh38]
Chr16:3293403 [GRCh37]
Chr16:16p13.3		 uncertain significance|not provided
NM_000243.3(MEFV):c.2126T>G (p.Leu709Arg) single nucleotide variant Familial Mediterranean fever [RCV000083749] Chr16:3243361 [GRCh38]
Chr16:3293361 [GRCh37]
Chr16:16p13.3		 not provided
NM_000243.3(MEFV):c.2149C>A (p.Arg717Ser) single nucleotide variant Familial Mediterranean fever [RCV000083750] Chr16:3243338 [GRCh38]
Chr16:3293338 [GRCh37]
Chr16:16p13.3		 uncertain significance|not provided
NM_000243.3(MEFV):c.1792+8C>T single nucleotide variant Familial Mediterranean fever [RCV002721772] Chr16:3243852 [GRCh38]
Chr16:3293852 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV001197705]|Autoinflammatory syndrome [RCV002262586]|Familial Mediterranean fever [RCV000030179]|Familial Mediterranean fever [RCV000515335]|Familial Mediterranean fever [RCV002477026]|Familial Mediterranean fever, autosomal dominant [RCV002254152]|Inborn genetic diseases [RCV002415433]|See cases [RCV002251932]|not provided [RCV000222364] Chr16:3243447 [GRCh38]
Chr16:3293447 [GRCh37]
Chr16:16p13.3		 pathogenic|no classifications from unflagged records
NM_000243.3(MEFV):c.1759+1G>T single nucleotide variant Familial Mediterranean fever [RCV001217685] Chr16:3244253 [GRCh38]
Chr16:3294253 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.2146A>G (p.Lys716Glu) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003126632]|Familial Mediterranean fever [RCV000795673]|Familial Mediterranean fever, autosomal dominant [RCV003126631]|not provided [RCV000218313]|not specified [RCV001328382] Chr16:3243341 [GRCh38]
Chr16:3293341 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_000243.3(MEFV):c.1757A>G (p.Asn586Ser) single nucleotide variant Inborn genetic diseases [RCV002401614] Chr16:3244256 [GRCh38]
Chr16:3294256 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1887G>C (p.Leu629=) single nucleotide variant Familial Mediterranean fever [RCV001409996] Chr16:3243600 [GRCh38]
Chr16:3293600 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.2090A>T (p.Asn697Ile) single nucleotide variant not provided [RCV001755257] Chr16:3243397 [GRCh38]
Chr16:3293397 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1850T>G (p.Leu617Arg) single nucleotide variant Inborn genetic diseases [RCV002413012]|not provided [RCV003418517] Chr16:3243637 [GRCh38]
Chr16:3293637 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1763C>T (p.Pro588Leu) single nucleotide variant Familial Mediterranean fever [RCV000915002] Chr16:3243889 [GRCh38]
Chr16:3293889 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1759+11C>T single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003126783]|Familial Mediterranean fever [RCV002056907]|Familial Mediterranean fever [RCV002506235]|Familial Mediterranean fever, autosomal dominant [RCV003126782]|not specified [RCV000506579] Chr16:3244243 [GRCh38]
Chr16:3294243 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity
NM_000243.3(MEFV):c.1727-16C>G single nucleotide variant Familial Mediterranean fever [RCV002538334]|not provided [RCV000842627] Chr16:3244302 [GRCh38]
Chr16:3294302 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1957C>A (p.Arg653Ser) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003127849]|Familial Mediterranean fever [RCV001372413]|Familial Mediterranean fever [RCV002488177]|Familial Mediterranean fever, autosomal dominant [RCV003127848] Chr16:3243530 [GRCh38]
Chr16:3293530 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_000243.3(MEFV):c.1760-28T>A single nucleotide variant Familial Mediterranean fever [RCV000083709]|not provided [RCV001701499] Chr16:3243920 [GRCh38]
Chr16:3293920 [GRCh37]
Chr16:16p13.3		 benign|likely benign|not provided
NM_000243.3(MEFV):c.1760-19A>G single nucleotide variant Familial Mediterranean fever [RCV002080193] Chr16:3243911 [GRCh38]
Chr16:3293911 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.2007C>T (p.Ala669=) single nucleotide variant not provided [RCV001692865] Chr16:3243480 [GRCh38]
Chr16:3293480 [GRCh37]
Chr16:16p13.3		 benign
NM_000243.3(MEFV):c.2078TGA[3] (p.Met694_Lys695insMet) microsatellite Inborn genetic diseases [RCV002423875] Chr16:3243403..3243404 [GRCh38]
Chr16:3293403..3293404 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.2164G>A (p.Val722Met) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003126454]|Familial Mediterranean fever [RCV000083752]|Familial Mediterranean fever, autosomal dominant [RCV003126453]|not provided [RCV001701661]|not specified [RCV001175016] Chr16:3243323 [GRCh38]
Chr16:3293323 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000243.3(MEFV):c.1841C>T (p.Ser614Phe) single nucleotide variant Familial Mediterranean fever [RCV000989479] Chr16:3243646 [GRCh38]
Chr16:3293646 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1773T>G (p.Ile591Met) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003127572]|Familial Mediterranean fever [RCV000989480]|Familial Mediterranean fever, autosomal dominant [RCV003127571] Chr16:3243879 [GRCh38]
Chr16:3293879 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_000243.3(MEFV):c.1793-2A>C single nucleotide variant Familial Mediterranean fever [RCV001995793] Chr16:3243696 [GRCh38]
Chr16:3293696 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.2049G>A (p.Ser683=) single nucleotide variant Autoinflammatory syndrome [RCV002262639]|Familial Mediterranean fever [RCV000083734]|Inborn genetic diseases [RCV002415584]|not provided [RCV001705808]|not specified [RCV001000131] Chr16:3243438 [GRCh38]
Chr16:3293438 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000243.3(MEFV):c.1964G>T (p.Trp655Leu) single nucleotide variant Familial Mediterranean fever [RCV001321270]|Inborn genetic diseases [RCV002545092] Chr16:3243523 [GRCh38]
Chr16:3293523 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1803T>A (p.Ile601=) single nucleotide variant Familial Mediterranean fever [RCV000329543]|Inborn genetic diseases [RCV002411210]|not provided [RCV001090249]|not specified [RCV000507285] Chr16:3243684 [GRCh38]
Chr16:3293684 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000243.3(MEFV):c.1760-8C>T single nucleotide variant not provided [RCV000762180] Chr16:3243900 [GRCh38]
Chr16:3293900 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
NM_000243.3(MEFV):c.1949C>A (p.Ser650Tyr) single nucleotide variant Familial Mediterranean fever [RCV000049556] Chr16:3243538 [GRCh38]
Chr16:3293538 [GRCh37]
Chr16:16p13.3		 not provided
NM_000243.3(MEFV):c.1724C>G (p.Ser575Ter) single nucleotide variant Hyperpigmentation of the skin [RCV002244293] Chr16:3244475 [GRCh38]
Chr16:3294475 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1759+8C>T single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003125842]|Autoinflammatory syndrome [RCV002262584]|Familial Mediterranean fever [RCV000030176]|Familial Mediterranean fever, autosomal dominant [RCV003125841]|not provided [RCV001811211]|not specified [RCV000180116] Chr16:3244246 [GRCh38]
Chr16:3294246 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_000243.3(MEFV):c.1996A>G (p.Ile666Val) single nucleotide variant Familial Mediterranean fever [RCV000049557] Chr16:3243491 [GRCh38]
Chr16:3293491 [GRCh37]
Chr16:16p13.3		 not provided
NM_000243.3(MEFV):c.1730C>A (p.Thr577Asn) single nucleotide variant Familial Mediterranean fever [RCV000408827]|not provided [RCV001269727] Chr16:3244283 [GRCh38]
Chr16:3294283 [GRCh37]
Chr16:16p13.3		 pathogenic|uncertain significance
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV001197906]|Autoinflammatory syndrome [RCV002262585]|Familial Mediterranean fever [RCV000030178]|Familial Mediterranean fever [RCV003224109]|Inborn genetic diseases [RCV002408482]|not provided [RCV000589464]|not specified [RCV000214973] Chr16:3243880 [GRCh38]
Chr16:3293880 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000243.3(MEFV):c.2055G>T (p.Glu685Asp) single nucleotide variant Familial Mediterranean fever [RCV001278365] Chr16:3243432 [GRCh38]
Chr16:3293432 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1920C>G (p.Ile640Met) single nucleotide variant Familial Mediterranean fever [RCV000083720]|not specified [RCV003987359] Chr16:3243567 [GRCh38]
Chr16:3293567 [GRCh37]
Chr16:16p13.3		 uncertain significance|not provided
NM_000243.3(MEFV):c.1975G>T (p.Val659Phe) single nucleotide variant Familial Mediterranean fever [RCV000083728] Chr16:3243512 [GRCh38]
Chr16:3293512 [GRCh37]
Chr16:16p13.3		 not provided
NM_000243.3(MEFV):c.2024G>A (p.Ser675Asn) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003126440]|Familial Mediterranean fever [RCV000083730]|Familial Mediterranean fever [RCV000768022]|Familial Mediterranean fever [RCV003224142]|Familial Mediterranean fever, autosomal dominant [RCV003126439] Chr16:3243463 [GRCh38]
Chr16:3293463 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance|not provided
NM_000243.3(MEFV):c.2079G>C (p.Met693Ile) single nucleotide variant Familial Mediterranean fever [RCV000083738] Chr16:3243408 [GRCh38]
Chr16:3293408 [GRCh37]
Chr16:16p13.3		 not provided
NM_000243.3(MEFV):c.2105C>G (p.Ser702Cys) single nucleotide variant Familial Mediterranean fever [RCV000083744] Chr16:3243382 [GRCh38]
Chr16:3293382 [GRCh37]
Chr16:16p13.3		 uncertain significance|not provided
NM_000243.3(MEFV):c.1770G>A (p.Leu590=) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003127484]|Familial Mediterranean fever [RCV001471489]|Familial Mediterranean fever, autosomal dominant [RCV003127483]|not provided [RCV000828867] Chr16:3243882 [GRCh38]
Chr16:3293882 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity
NM_000243.3(MEFV):c.1760-8C>A single nucleotide variant Familial Mediterranean fever [RCV002149069] Chr16:3243900 [GRCh38]
Chr16:3293900 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1792+10C>G single nucleotide variant Familial Mediterranean fever [RCV002601708] Chr16:3243850 [GRCh38]
Chr16:3293850 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1889C>T (p.Pro630Leu) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003127570]|Familial Mediterranean fever [RCV000989477]|Familial Mediterranean fever [RCV002489460]|Familial Mediterranean fever, autosomal dominant [RCV003127569] Chr16:3243598 [GRCh38]
Chr16:3293598 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_000243.3(MEFV):c.1761T>C (p.Val587=) single nucleotide variant Familial Mediterranean fever [RCV001462692] Chr16:3243891 [GRCh38]
Chr16:3293891 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.2066G>T (p.Trp689Leu) single nucleotide variant Familial Mediterranean fever [RCV002011506] Chr16:3243421 [GRCh38]
Chr16:3293421 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.2117C>T (p.Pro706Leu) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003127728]|Familial Mediterranean fever [RCV001246070]|Familial Mediterranean fever [RCV002484375]|Familial Mediterranean fever, autosomal dominant [RCV003127727] Chr16:3243370 [GRCh38]
Chr16:3293370 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_000243.3(MEFV):c.2150G>T (p.Arg717Leu) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003127564]|Familial Mediterranean fever [RCV000989472]|Familial Mediterranean fever [RCV002479155]|Familial Mediterranean fever, autosomal dominant [RCV003127563]|not specified [RCV001002516] Chr16:3243337 [GRCh38]
Chr16:3293337 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_000243.3(MEFV):c.1685A>G (p.Gln562Arg) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003126050]|Familial Mediterranean fever [RCV001990757]|Familial Mediterranean fever [RCV002507721]|Familial Mediterranean fever, autosomal dominant [RCV003126049] Chr16:3244514 [GRCh38]
Chr16:3294514 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_000243.3(MEFV):c.2118G>A (p.Pro706=) single nucleotide variant Autoinflammatory syndrome [RCV002262587]|Familial Mediterranean fever [RCV000030181]|Familial Mediterranean fever, autosomal dominant [RCV001731318]|Inborn genetic diseases [RCV002415434]|not provided [RCV001705606]|not specified [RCV000250856] Chr16:3243369 [GRCh38]
Chr16:3293369 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000243.3(MEFV):c.2065T>C (p.Trp689Arg) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003127615]|Familial Mediterranean fever [RCV001065311]|Familial Mediterranean fever [RCV002482093]|Familial Mediterranean fever, autosomal dominant [RCV003127614] Chr16:3243422 [GRCh38]
Chr16:3293422 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_000243.3(MEFV):c.1759+99del deletion not provided [RCV001696661]|not specified [RCV003394216] Chr16:3244155 [GRCh38]
Chr16:3294155 [GRCh37]
Chr16:16p13.3		 benign
NM_000243.3(MEFV):c.2097C>T (p.Tyr699=) single nucleotide variant Familial Mediterranean fever [RCV002092363] Chr16:3243390 [GRCh38]
Chr16:3293390 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1736G>A (p.Arg579His) single nucleotide variant Familial Mediterranean fever [RCV000285033]|Familial Mediterranean fever [RCV002495010]|not provided [RCV002261051] Chr16:3244277 [GRCh38]
Chr16:3294277 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1899G>A (p.Pro633=) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003127560]|Familial Mediterranean fever [RCV000977151]|Familial Mediterranean fever [RCV002503116]|Familial Mediterranean fever, autosomal dominant [RCV003127559] Chr16:3243588 [GRCh38]
Chr16:3293588 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity
NM_000243.3(MEFV):c.1767G>A (p.Glu589=) single nucleotide variant Familial Mediterranean fever [RCV003605617]|not specified [RCV000235800] Chr16:3243885 [GRCh38]
Chr16:3293885 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.2085G>C (p.Lys695Asn) single nucleotide variant Familial Mediterranean fever [RCV000083742]|not specified [RCV001001442] Chr16:3243402 [GRCh38]
Chr16:3293402 [GRCh37]
Chr16:16p13.3		 likely pathogenic|uncertain significance|not provided
NM_000243.3(MEFV):c.1945C>T (p.Leu649Phe) single nucleotide variant not specified [RCV003230897] Chr16:3243542 [GRCh38]
Chr16:3293542 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1727-2A>C single nucleotide variant not specified [RCV003230898] Chr16:3244288 [GRCh38]
Chr16:3294288 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.2164G>C (p.Val722Leu) single nucleotide variant Familial Mediterranean fever [RCV002625993] Chr16:3243323 [GRCh38]
Chr16:3293323 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1969G>C (p.Val657Leu) single nucleotide variant Familial Mediterranean fever [RCV002643791] Chr16:3243518 [GRCh38]
Chr16:3293518 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1793-19A>G single nucleotide variant not specified [RCV001779512] Chr16:3243713 [GRCh38]
Chr16:3293713 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1827C>G (p.Pro609=) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003126438]|Familial Mediterranean fever [RCV000083718]|Familial Mediterranean fever, autosomal dominant [RCV003126437]|not provided [RCV000834990]|not specified [RCV001797624] Chr16:3243660 [GRCh38]
Chr16:3293660 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|not provided
NM_000243.3(MEFV):c.1759+14T>C single nucleotide variant Familial Mediterranean fever [RCV002705775] Chr16:3244240 [GRCh38]
Chr16:3294240 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.2115C>G (p.Pro705=) single nucleotide variant Familial Mediterranean fever [RCV002182734] Chr16:3243372 [GRCh38]
Chr16:3293372 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1782G>A (p.Gln594=) single nucleotide variant Familial Mediterranean fever [RCV002148999]|not provided [RCV003120833] Chr16:3243870 [GRCh38]
Chr16:3293870 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_000243.3(MEFV):c.1759+7C>T single nucleotide variant Autoinflammatory syndrome [RCV002263974]|Familial Mediterranean fever [RCV001825529]|not specified [RCV000780409] Chr16:3244247 [GRCh38]
Chr16:3294247 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_000243.3(MEFV):c.1854G>A (p.Lys618=) single nucleotide variant Familial Mediterranean fever [RCV002175057] Chr16:3243633 [GRCh38]
Chr16:3293633 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.2078T>A (p.Met693Lys) single nucleotide variant not specified [RCV001733360] Chr16:3243409 [GRCh38]
Chr16:3293409 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1900C>T (p.Gln634Ter) single nucleotide variant not provided [RCV002276020] Chr16:3243587 [GRCh38]
Chr16:3293587 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_000243.3(MEFV):c.2124C>T (p.Arg708=) single nucleotide variant Familial Mediterranean fever [RCV002800934] Chr16:3243363 [GRCh38]
Chr16:3293363 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1776C>T (p.Gly592=) single nucleotide variant Familial Mediterranean fever [RCV000083711]|not provided [RCV000285170] Chr16:3243876 [GRCh38]
Chr16:3293876 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance|not provided
NM_000243.3(MEFV):c.2112T>C (p.Val704=) single nucleotide variant Familial Mediterranean fever [RCV002801839] Chr16:3243375 [GRCh38]
Chr16:3293375 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3 copy number gain See cases [RCV000052395] Chr16:2717952..4041020 [GRCh38]
Chr16:2767953..4091021 [GRCh37]
Chr16:2707954..4031022 [NCBI36]
Chr16:16p13.3		 pathogenic
NM_000243.3(MEFV):c.2040G>T (p.Met680Ile) single nucleotide variant Familial Mediterranean fever [RCV003605614]|not provided [RCV000220209] Chr16:3243447 [GRCh38]
Chr16:3293447 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_000243.3(MEFV):c.1991C>T (p.Ala664Val) single nucleotide variant Familial Mediterranean fever [RCV002028045] Chr16:3243496 [GRCh38]
Chr16:3293496 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser) single nucleotide variant Familial Mediterranean fever [RCV000083719]|Familial Mediterranean fever [RCV000763382]|Familial Mediterranean fever [RCV003224141]|Familial Mediterranean fever, autosomal dominant [RCV003447490]|not provided [RCV001811392] Chr16:3243593 [GRCh38]
Chr16:3293593 [GRCh37]
Chr16:16p13.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000243.3(MEFV):c.1883G>A (p.Arg628Lys) single nucleotide variant not specified [RCV002282816] Chr16:3243604 [GRCh38]
Chr16:3293604 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1760-87T>A single nucleotide variant Familial Mediterranean fever [RCV002194190] Chr16:3243979 [GRCh38]
Chr16:3293979 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.2055G>A (p.Glu685=) single nucleotide variant Familial Mediterranean fever [RCV002194559] Chr16:3243432 [GRCh38]
Chr16:3293432 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1792+52C>G single nucleotide variant not provided [RCV001811786] Chr16:3243808 [GRCh38]
Chr16:3293808 [GRCh37]
Chr16:16p13.3		 benign
NM_000243.3(MEFV):c.1727-58T>C single nucleotide variant Familial Mediterranean fever [RCV000083706] Chr16:3244344 [GRCh38]
Chr16:3294344 [GRCh37]
Chr16:16p13.3		 not provided
NM_000243.3(MEFV):c.1792+39G>A single nucleotide variant Familial Mediterranean fever [RCV000083713] Chr16:3243821 [GRCh38]
Chr16:3293821 [GRCh37]
Chr16:16p13.3		 not provided
NM_000243.3(MEFV):c.2063A>G (p.Tyr688Cys) single nucleotide variant Familial Mediterranean fever [RCV000083735] Chr16:3243424 [GRCh38]
Chr16:3293424 [GRCh37]
Chr16:16p13.3		 not provided
NM_000243.3(MEFV):c.2080A>T (p.Met694Leu) single nucleotide variant Familial Mediterranean fever [RCV000083739] Chr16:3243407 [GRCh38]
Chr16:3293407 [GRCh37]
Chr16:16p13.3		 uncertain significance|not provided
NM_000243.3(MEFV):c.2066G>C (p.Trp689Ser) single nucleotide variant not provided [RCV001172093] Chr16:3243421 [GRCh38]
Chr16:3293421 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1897C>A (p.Pro633Thr) single nucleotide variant Familial Mediterranean fever [RCV001278366] Chr16:3243590 [GRCh38]
Chr16:3293590 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1984A>G (p.Lys662Glu) single nucleotide variant Familial Mediterranean fever [RCV001216278] Chr16:3243503 [GRCh38]
Chr16:3293503 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1899G>T (p.Pro633=) single nucleotide variant Familial Mediterranean fever [RCV000632796] Chr16:3243588 [GRCh38]
Chr16:3293588 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.2020A>G (p.Ile674Val) single nucleotide variant Familial Mediterranean fever [RCV002037167]|Inborn genetic diseases [RCV002545287] Chr16:3243467 [GRCh38]
Chr16:3293467 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1694A>G (p.Glu565Gly) single nucleotide variant Familial Mediterranean fever [RCV003100792]|Inborn genetic diseases [RCV002414655] Chr16:3244505 [GRCh38]
Chr16:3294505 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1836C>T (p.Ile612=) single nucleotide variant Familial Mediterranean fever [RCV002082419] Chr16:3243651 [GRCh38]
Chr16:3293651 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1873A>C (p.Lys625Gln) single nucleotide variant not specified [RCV000413005] Chr16:3243614 [GRCh38]
Chr16:3293614 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.2074_2076delinsGTG (p.Ile692Val) indel Familial Mediterranean fever [RCV000797275] Chr16:3243411..3243413 [GRCh38]
Chr16:3293411..3293413 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003126436]|Autoinflammatory syndrome [RCV002262636]|Familial Mediterranean fever [RCV000083716]|Familial Mediterranean fever [RCV002505013]|Familial Mediterranean fever, autosomal dominant [RCV003126435]|not provided [RCV000218478] Chr16:3243692 [GRCh38]
Chr16:3293692 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000243.3(MEFV):c.1698T>C (p.Phe566=) single nucleotide variant Familial Mediterranean fever [RCV002087950] Chr16:3244501 [GRCh38]
Chr16:3294501 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.2042C>T (p.Thr681Ile) single nucleotide variant Familial Mediterranean fever [RCV000083733] Chr16:3243445 [GRCh38]
Chr16:3293445 [GRCh37]
Chr16:16p13.3		 uncertain significance|not provided
NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003126450]|Autoinflammatory syndrome [RCV002262641]|Familial Mediterranean fever [RCV000083748]|Familial Mediterranean fever, autosomal dominant [RCV003126449]|not specified [RCV000780404] Chr16:3243365 [GRCh38]
Chr16:3293365 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance|not provided
NM_000243.3(MEFV):c.1760-30T>A single nucleotide variant Familial Mediterranean fever [RCV001533508]|Familial Mediterranean fever, autosomal dominant [RCV001533507]|not provided [RCV001355109]|not specified [RCV003392340] Chr16:3243922 [GRCh38]
Chr16:3293922 [GRCh37]
Chr16:16p13.3		 benign|uncertain significance
NM_000243.3(MEFV):c.2064C>T (p.Tyr688=) single nucleotide variant Familial Mediterranean fever [RCV002761598] Chr16:3243423 [GRCh38]
Chr16:3293423 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1946T>C (p.Leu649Pro) single nucleotide variant Familial Mediterranean fever [RCV000083724] Chr16:3243541 [GRCh38]
Chr16:3293541 [GRCh37]
Chr16:16p13.3		 not provided
NM_000243.3(MEFV):c.2103G>A (p.Ala701=) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003126444]|Familial Mediterranean fever [RCV000083743]|Familial Mediterranean fever, autosomal dominant [RCV003126443]|not provided [RCV003415854]|not specified [RCV000126739] Chr16:3243384 [GRCh38]
Chr16:3293384 [GRCh37]
Chr16:16p13.3		 benign|likely benign|not provided
NM_000243.3(MEFV):c.2110G>A (p.Val704Ile) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003126448]|Familial Mediterranean fever [RCV000083746]|Familial Mediterranean fever, autosomal dominant [RCV003126447] Chr16:3243377 [GRCh38]
Chr16:3293377 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance|not provided
NM_000243.3(MEFV):c.1727-9A>G single nucleotide variant Familial Mediterranean fever [RCV002162761] Chr16:3244295 [GRCh38]
Chr16:3294295 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1821T>C (p.Ala607=) single nucleotide variant Familial Mediterranean fever [RCV002169019] Chr16:3243666 [GRCh38]
Chr16:3293666 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.2160C>T (p.Ile720=) single nucleotide variant Familial Mediterranean fever [RCV002805661] Chr16:3243327 [GRCh38]
Chr16:3293327 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1792+15C>A single nucleotide variant Familial Mediterranean fever [RCV002745242] Chr16:3243845 [GRCh38]
Chr16:3293845 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1729A>T (p.Thr577Ser) single nucleotide variant Familial Mediterranean fever [RCV000083707] Chr16:3244284 [GRCh38]
Chr16:3294284 [GRCh37]
Chr16:16p13.3		 not provided
NM_000243.3(MEFV):c.1937C>T (p.Pro646Leu) single nucleotide variant Familial Mediterranean fever [RCV000083722] Chr16:3243550 [GRCh38]
Chr16:3293550 [GRCh37]
Chr16:16p13.3		 not provided
NM_000243.3(MEFV):c.1967A>C (p.Glu656Ala) single nucleotide variant Familial Mediterranean fever [RCV000083727] Chr16:3243520 [GRCh38]
Chr16:3293520 [GRCh37]
Chr16:16p13.3		 uncertain significance|not provided
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003126452]|Familial Mediterranean fever [RCV000083751]|Familial Mediterranean fever, autosomal dominant [RCV003126451]|MEFV-related condition [RCV003421979]|not specified [RCV000780406] Chr16:3243327 [GRCh38]
Chr16:3293327 [GRCh37]
Chr16:16p13.3		 benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000243.3(MEFV):c.2064C>G (p.Tyr688Ter) single nucleotide variant Familial Mediterranean fever [RCV000083736] Chr16:3243423 [GRCh38]
Chr16:3293423 [GRCh37]
Chr16:16p13.3		 pathogenic|uncertain significance|not provided
NM_000243.3(MEFV):c.1902A>G (p.Gln634=) single nucleotide variant Familial Mediterranean fever [RCV001323237] Chr16:3243585 [GRCh38]
Chr16:3293585 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 copy number gain See cases [RCV000136687] Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3		 pathogenic
NM_000243.3(MEFV):c.1957C>T (p.Arg653Cys) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003126665]|Familial Mediterranean fever [RCV001276186]|Familial Mediterranean fever, autosomal dominant [RCV003126664]|not provided [RCV000587289] Chr16:3243530 [GRCh38]
Chr16:3293530 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_000243.3(MEFV):c.1916G>A (p.Cys639Tyr) single nucleotide variant Familial Mediterranean fever [RCV001362252] Chr16:3243571 [GRCh38]
Chr16:3293571 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1910A>G (p.Asp637Gly) single nucleotide variant Familial Mediterranean fever [RCV000049555] Chr16:3243577 [GRCh38]
Chr16:3293577 [GRCh37]
Chr16:16p13.3		 uncertain significance|not provided
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
NM_000243.3(MEFV):c.1760-5C>T single nucleotide variant Familial Mediterranean fever [RCV001464970] Chr16:3243897 [GRCh38]
Chr16:3293897 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1727-2A>G single nucleotide variant not specified [RCV003123376] Chr16:3244288 [GRCh38]
Chr16:3294288 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1792+9C>G single nucleotide variant Familial Mediterranean fever [RCV001402485] Chr16:3243851 [GRCh38]
Chr16:3293851 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1876T>A (p.Trp626Arg) single nucleotide variant not provided [RCV003222856] Chr16:3243611 [GRCh38]
Chr16:3293611 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1893T>C (p.Asp631=) single nucleotide variant Familial Mediterranean fever [RCV003057346] Chr16:3243594 [GRCh38]
Chr16:3293594 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1944C>T (p.Phe648=) single nucleotide variant Familial Mediterranean fever [RCV002208395] Chr16:3243543 [GRCh38]
Chr16:3293543 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1759+1G>A single nucleotide variant not provided [RCV000223214] Chr16:3244253 [GRCh38]
Chr16:3294253 [GRCh37]
Chr16:16p13.3		 pathogenic|conflicting interpretations of pathogenicity
NM_000243.3(MEFV):c.2081T>A (p.Met694Lys) single nucleotide variant Familial Mediterranean fever [RCV000989475] Chr16:3243406 [GRCh38]
Chr16:3293406 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1854G>C (p.Lys618Asn) single nucleotide variant Familial Mediterranean fever [RCV000989478] Chr16:3243633 [GRCh38]
Chr16:3293633 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1730C>G (p.Thr577Ser) single nucleotide variant Familial Mediterranean fever [RCV000989481] Chr16:3244283 [GRCh38]
Chr16:3294283 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.2164G>T (p.Val722Leu) single nucleotide variant Familial Mediterranean fever [RCV001209199] Chr16:3243323 [GRCh38]
Chr16:3293323 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1760-7_1760-6del microsatellite Familial Mediterranean fever [RCV002630115] Chr16:3243898..3243899 [GRCh38]
Chr16:3293898..3293899 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.2121C>G (p.Thr707=) single nucleotide variant Familial Mediterranean fever [RCV002132821] Chr16:3243366 [GRCh38]
Chr16:3293366 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1735C>T (p.Arg579Cys) single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003126938]|Autoinflammatory syndrome [RCV002263985]|Familial Mediterranean fever [RCV000795051]|Familial Mediterranean fever, autosomal dominant [RCV003126937]|not provided [RCV001776003] Chr16:3244278 [GRCh38]
Chr16:3294278 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_000243.3(MEFV):c.2140C>T (p.Pro714Ser) single nucleotide variant not provided [RCV001776987] Chr16:3243347 [GRCh38]
Chr16:3293347 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1969G>A (p.Val657Met) single nucleotide variant Familial Mediterranean fever [RCV001323485] Chr16:3243518 [GRCh38]
Chr16:3293518 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1784C>T (p.Ala595Val) single nucleotide variant Familial Mediterranean fever [RCV000083712] Chr16:3243868 [GRCh38]
Chr16:3293868 [GRCh37]
Chr16:16p13.3		 uncertain significance|not provided
NM_000243.3(MEFV):c.1938G>A (p.Pro646=) single nucleotide variant Familial Mediterranean fever [RCV000083723] Chr16:3243549 [GRCh38]
Chr16:3293549 [GRCh37]
Chr16:16p13.3		 likely benign|not provided
NM_000243.3(MEFV):c.2113C>T (p.Pro705Ser) single nucleotide variant Familial Mediterranean fever [RCV000083747] Chr16:3243374 [GRCh38]
Chr16:3293374 [GRCh37]
Chr16:16p13.3		 not provided
NM_000243.3(MEFV):c.2032G>A (p.Gly678Arg) single nucleotide variant Familial Mediterranean fever [RCV001337963] Chr16:3243455 [GRCh38]
Chr16:3293455 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1808A>G (p.Asp603Gly) single nucleotide variant Familial Mediterranean fever [RCV001345672] Chr16:3243679 [GRCh38]
Chr16:3293679 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3(chr16:3061267-3666094)x3 copy number gain See cases [RCV000139806] Chr16:3061267..3666094 [GRCh38]
Chr16:3111268..3716095 [GRCh37]
Chr16:3051269..3656096 [NCBI36]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.2080_2082delinsGTA (p.Met694Val) indel not provided [RCV000519280] Chr16:3243405..3243407 [GRCh38]
Chr16:3293405..3293407 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_000243.3(MEFV):c.1764G>A (p.Pro588=) single nucleotide variant Familial Mediterranean fever [RCV000030177]|Familial Mediterranean fever, autosomal dominant [RCV001533506]|not provided [RCV001701571]|not specified [RCV000266471] Chr16:3243888 [GRCh38]
Chr16:3293888 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_000243.3(MEFV):c.1760-97G>A single nucleotide variant Acute febrile neutrophilic dermatosis [RCV003127753]|Familial Mediterranean fever [RCV003127751]|Familial Mediterranean fever, autosomal dominant [RCV003127752]|not provided [RCV001564716] Chr16:3243989 [GRCh38]
Chr16:3293989 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_000243.3(MEFV):c.1760-1G>T single nucleotide variant Familial Mediterranean fever [RCV003042668] Chr16:3243893 [GRCh38]
Chr16:3293893 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1955G>A (p.Arg652His) single nucleotide variant Familial Mediterranean fever [RCV002972608] Chr16:3243532 [GRCh38]
Chr16:3293532 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
NM_000243.3(MEFV):c.1759+19G>T single nucleotide variant Familial Mediterranean fever [RCV001426852] Chr16:3244235 [GRCh38]
Chr16:3294235 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1818C>G (p.Thr606=) single nucleotide variant Familial Mediterranean fever [RCV001404900] Chr16:3243669 [GRCh38]
Chr16:3293669 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1734G>A (p.Leu578=) single nucleotide variant Familial Mediterranean fever [RCV003009796] Chr16:3244279 [GRCh38]
Chr16:3294279 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1764G>T (p.Pro588=) single nucleotide variant Familial Mediterranean fever [RCV001486820] Chr16:3243888 [GRCh38]
Chr16:3293888 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1760-13T>C single nucleotide variant Familial Mediterranean fever [RCV003110655] Chr16:3243905 [GRCh38]
Chr16:3293905 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1686G>A (p.Gln562=) single nucleotide variant Familial Mediterranean fever [RCV001450349] Chr16:3244513 [GRCh38]
Chr16:3294513 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1760-4G>C single nucleotide variant Familial Mediterranean fever [RCV001473866] Chr16:3243896 [GRCh38]
Chr16:3293896 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.2053G>A (p.Glu685Lys) single nucleotide variant Familial Mediterranean fever [RCV000148035] Chr16:3243434 [GRCh38]
Chr16:3293434 [GRCh37]
Chr16:16p13.3		 not provided
NM_000243.3(MEFV):c.1911C>T (p.Asp637=) single nucleotide variant Familial Mediterranean fever [RCV001446710] Chr16:3243576 [GRCh38]
Chr16:3293576 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1716G>A (p.Lys572=) single nucleotide variant Inborn genetic diseases [RCV003377778] Chr16:3244483 [GRCh38]
Chr16:3294483 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1895G>T (p.Gly632Val) single nucleotide variant not specified [RCV003388309] Chr16:3243592 [GRCh38]
Chr16:3293592 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1935T>A (p.Ser645=) single nucleotide variant Familial Mediterranean fever [RCV003605540] Chr16:3243552 [GRCh38]
Chr16:3293552 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1759+7C>G single nucleotide variant Familial Mediterranean fever [RCV003606781] Chr16:3244247 [GRCh38]
Chr16:3294247 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1793-14A>C single nucleotide variant Familial Mediterranean fever [RCV003606985] Chr16:3243708 [GRCh38]
Chr16:3293708 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1727-12C>G single nucleotide variant Familial Mediterranean fever [RCV003606708] Chr16:3244298 [GRCh38]
Chr16:3294298 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.2068G>A (p.Val690Met) single nucleotide variant Familial Mediterranean fever [RCV003606802] Chr16:3243419 [GRCh38]
Chr16:3293419 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1792+15C>T single nucleotide variant Familial Mediterranean fever [RCV003606816] Chr16:3243845 [GRCh38]
Chr16:3293845 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.2016A>T (p.Thr672=) single nucleotide variant Familial Mediterranean fever [RCV003828394] Chr16:3243471 [GRCh38]
Chr16:3293471 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1792+20C>G single nucleotide variant Familial Mediterranean fever [RCV003606894] Chr16:3243840 [GRCh38]
Chr16:3293840 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1947C>G (p.Leu649=) single nucleotide variant Familial Mediterranean fever [RCV003605054] Chr16:3243540 [GRCh38]
Chr16:3293540 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1759+9A>G single nucleotide variant Familial Mediterranean fever [RCV003879488] Chr16:3244245 [GRCh38]
Chr16:3294245 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1726+13G>A single nucleotide variant Familial Mediterranean fever [RCV003604425] Chr16:3244460 [GRCh38]
Chr16:3294460 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1827C>A (p.Pro609=) single nucleotide variant Familial Mediterranean fever [RCV003606850] Chr16:3243660 [GRCh38]
Chr16:3293660 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1824C>T (p.Tyr608=) single nucleotide variant Familial Mediterranean fever [RCV003606867] Chr16:3243663 [GRCh38]
Chr16:3293663 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.2089A>C (p.Asn697His) single nucleotide variant Familial Mediterranean fever [RCV003605080] Chr16:3243398 [GRCh38]
Chr16:3293398 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1812A>G (p.Ala604=) single nucleotide variant Familial Mediterranean fever [RCV003604103] Chr16:3243675 [GRCh38]
Chr16:3293675 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1759+14T>A single nucleotide variant Familial Mediterranean fever [RCV003604827] Chr16:3244240 [GRCh38]
Chr16:3294240 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1792+16A>G single nucleotide variant Familial Mediterranean fever [RCV003497632] Chr16:3243844 [GRCh38]
Chr16:3293844 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.2130A>G (p.Leu710=) single nucleotide variant Familial Mediterranean fever [RCV003603420] Chr16:3243357 [GRCh38]
Chr16:3293357 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1884G>A (p.Arg628=) single nucleotide variant Familial Mediterranean fever [RCV003498330] Chr16:3243603 [GRCh38]
Chr16:3293603 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1719C>T (p.Tyr573=) single nucleotide variant Familial Mediterranean fever [RCV003814530] Chr16:3244480 [GRCh38]
Chr16:3294480 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1727-10_1727-6del deletion Familial Mediterranean fever [RCV003497808] Chr16:3244292..3244296 [GRCh38]
Chr16:3294292..3294296 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1759+13G>T single nucleotide variant Familial Mediterranean fever [RCV003855342] Chr16:3244241 [GRCh38]
Chr16:3294241 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1986G>A (p.Lys662=) single nucleotide variant Familial Mediterranean fever [RCV003864743] Chr16:3243501 [GRCh38]
Chr16:3293501 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.2076A>T (p.Ile692=) single nucleotide variant Familial Mediterranean fever [RCV003863381] Chr16:3243411 [GRCh38]
Chr16:3293411 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1792+11A>G single nucleotide variant Familial Mediterranean fever [RCV003864570] Chr16:3243849 [GRCh38]
Chr16:3293849 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1959T>C (p.Arg653=) single nucleotide variant Familial Mediterranean fever [RCV003843610] Chr16:3243528 [GRCh38]
Chr16:3293528 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1760-121A>G single nucleotide variant MEFV-related condition [RCV003977179] Chr16:3244013 [GRCh38]
Chr16:3294013 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1875G>C (p.Lys625Asn) single nucleotide variant Inborn genetic diseases [RCV004423949] Chr16:3243612 [GRCh38]
Chr16:3293612 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.1760-39T>C single nucleotide variant MEFV-related condition [RCV003982678] Chr16:3243931 [GRCh38]
Chr16:3293931 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.2102C>A (p.Ala701Glu) single nucleotide variant MEFV-related condition [RCV003899698] Chr16:3243385 [GRCh38]
Chr16:3293385 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_000243.3(MEFV):c.2085G>A (p.Lys695=) single nucleotide variant Familial Mediterranean fever [RCV003074787] Chr16:3243402 [GRCh38]
Chr16:3293402 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1920C>T (p.Ile640=) single nucleotide variant Familial Mediterranean fever [RCV003089962] Chr16:3243567 [GRCh38]
Chr16:3293567 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1866T>C (p.Leu622=) single nucleotide variant Familial Mediterranean fever [RCV001501932] Chr16:3243621 [GRCh38]
Chr16:3293621 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1773T>C (p.Ile591=) single nucleotide variant Familial Mediterranean fever [RCV003065475] Chr16:3243879 [GRCh38]
Chr16:3293879 [GRCh37]
Chr16:16p13.3		 likely benign
NM_000243.3(MEFV):c.1846G>A (p.Asp616Asn) single nucleotide variant Familial Mediterranean fever [RCV003049158] Chr16:3243641 [GRCh38]
Chr16:3293641 [GRCh37]
Chr16:16p13.3		 uncertain significance

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC126862264 COSMIC
GTEx LOC126862264 GTEx
Human Proteome Map LOC126862264 Human Proteome Map
NCBI Gene LOC126862264 ENTREZGENE