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Results: 1 to 20 of 29

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
MEFVFamilial Mediterranean feverGO-ESP:0.00354(A)
GMAF:0.00180(A)
Uncertain significance
(Aug 18, 2011)
classified by single submitter163256491
2.
MEFVFamilial Mediterranean feverGO-ESP:0.59566(A)
GMAF:0.30930(G)
Benign
(Aug 18, 2011)
classified by single submitter163249749
3.
MEFVFamilial Mediterranean feverGO-ESP:0.46697(T)
GMAF:0.38640(T)
Benign
(Aug 18, 2011)
classified by single submitter163254573
4.
MEFVFamilial Mediterranean feverGO-ESP:0.47631(G)
GMAF:0.38940(G)
Benign
(Aug 18, 2011)
classified by single submitter163254762
5.
MEFVFamilial Mediterranean feverGO-ESP:0.58419(G)
GMAF:0.33690(A)
Benign
(Aug 18, 2011)
classified by single submitter163247073
6.
MEFVFamilial Mediterranean feverGO-ESP:0.56657(T)
GMAF:0.36100(C)
Benign
(Aug 18, 2011)
classified by single submitter163247181
7.
MEFVFamilial Mediterranean feverGO-ESP:0.00369(C)
GMAF:0.00720(C)
Likely pathogenic
(Aug 18, 2011)
classified by single submitter163248947
8.
MEFVFamilial Mediterranean feverGO-ESP:0.00008(T)Likely pathogenic
(Aug 18, 2011)
classified by single submitter163249750
9.
MEFVFamilial Mediterranean feverGO-ESP:0.00038(A)
GMAF:0.00040(A)
Uncertain significance
(Aug 18, 2011)
classified by single submitter163249421
10.
MEFVFamilial Mediterranean feverGO-ESP:0.00023(A)
GMAF:0.00020(A)
Likely pathogenic
(Aug 18, 2011)
classified by single submitter163249675
11.
MEFVFamilial Mediterranean fever, not providedGO-ESP:0.18032(T)
GMAF:0.13600(T)
Benign/Likely benign
(Dec 9, 2011)
classified by multiple submitters163254463
12.
MEFVFamilial Mediterranean fever, not providedGO-ESP:0.46637(C)
GMAF:0.38660(C)
Benign
(Aug 18, 2011)
classified by multiple submitters163254654
13.
MEFVFamilial Mediterranean feverGO-ESP:0.00685(T)
GMAF:0.00880(T)
Likely benign
(Aug 18, 2011)
classified by single submitter163243369
14.
MEFVFamilial Mediterranean feverGO-ESP:0.00300(A)
GMAF:0.02800(A)
Benign
(Aug 18, 2011)
classified by single submitter163247100
15.
MEFVFamilial Mediterranean fever, not providedGO-ESP:0.00015(A)
GMAF:0.02540(A)
Benign
(Dec 22, 2011)
classified by multiple submitters163244246
16.
MEFVFamilial Mediterranean feverGO-ESP:0.00569(T)
GMAF:0.01720(T)
Conflicting interpretations of pathogenicity
(May 31, 2013)
classified by multiple submitters163249468
17.
MEFVFamilial Mediterranean feverGO-ESP:0.00562(A)
GMAF:0.02020(A)
Conflicting interpretations of pathogenicity
(May 31, 2013)
classified by multiple submitters163249586
18.
MEFVFamilial Mediterranean feverPathogenic
(Mar 7, 2013)
classified by multiple submitters163243405
19.
MEFVFamilial Mediterranean fever, not providedConflicting interpretations of pathogenicity, not provided
(Aug 30, 2012)
classified by multiple submitters163247085
20.
MEFVFamilial Mediterranean feverPathogenic/Likely pathogenic, not provided
(Mar 7, 2013)
classified by multiple submitters163254625

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