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Results: 1 to 20 of 25

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
PDHXnot providedGMAF:0.00600(A)Benign/Likely benign
(May 28, 2014)
classified by single submitter1134994997
2.
PDHXnot providedGMAF:0.00680(G)Benign/Likely benign
(Apr 2, 2014)
classified by single submitter1134992320
3.
PDHXnot providedGMAF:0.00300(C)Benign/Likely benign
(Jan 13, 2014)
classified by single submitter1134978135
4.
PDHXnot providedGMAF:0.00400(A)Benign/Likely benign
(Jun 10, 2013)
classified by single submitter1134970279
5.
PDHXnot providedGMAF:0.11700(C)Benign/Likely benign
(May 24, 2012)
classified by single submitter1134966796
6.
PDHXnot providedGMAF:0.00740(A)Benign/Likely benign
(May 24, 2013)
classified by single submitter1134960443
7.
PDHXnot providedGMAF:0.02160(T)Benign/Likely benign
(Mar 13, 2014)
classified by single submitter1134957572
8.
PDHXnot providedGMAF:0.03230(T)Benign/Likely benign
(May 22, 2012)
classified by single submitter1134957548
9.
PDHXnot providedGMAF:0.02160(T)Benign/Likely benign
(Mar 13, 2014)
classified by single submitter1134957479
10.
PDHXnot providedGMAF:0.05430(T)Benign/Likely benign
(Jan 4, 2014)
classified by single submitter1134947603
11.
PDHXnot providedGMAF:0.05250(A)Benign/Likely benign
(Jan 4, 2014)
classified by single submitter1134931487
12.
PDHXnot providedGMAF:0.00480(G)Benign/Likely benign
(Apr 30, 2013)
classified by single submitter1134916830
13.
PDHXnot providedGMAF:0.01540(G)Benign/Likely benign
(Mar 21, 2014)
classified by single submitter1134916725
14.
PDHXPyruvate dehydrogenase e3-binding protein deficiencyGMAF:0.00060(A)Pathogenic/Likely pathogenic
(Jan 9, 2012)
classified by single submitter1134916699
15.
PDHXPyruvate dehydrogenase e3-binding protein deficiencyPathogenic/Likely pathogenic
(Jan 9, 2012)
classified by single submitter
16.
PDHXPyruvate dehydrogenase e3-binding protein deficiencyPathogenic/Likely pathogenic
(Jan 9, 2012)
classified by single submitter1134966740
17.
PDHXPyruvate dehydrogenase e3-binding protein deficiencyPathogenic/Likely pathogenic
(Jan 9, 2012)
classified by single submitter
18.
PDHXPyruvate dehydrogenase e3-binding protein deficiencyPathogenic/Likely pathogenic
(Jan 9, 2012)
classified by single submitter
19.
PDHXPyruvate dehydrogenase e3-binding protein deficiencyPathogenic/Likely pathogenic
(Jan 9, 2012)
classified by single submitter
20.
PDHXPyruvate dehydrogenase e3-binding protein deficiencyPathogenic/Likely pathogenic
(Jan 9, 2012)
classified by single submitter

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