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Items: 19

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:58413904
GRCh38:
Chr3:58428177
PDHBnot specifiedUncertain significance
(Nov 11, 2013)
criteria provided, single submitter
2.
GRCh37:
Chr3:58416409
GRCh38:
Chr3:58430682
PDHBnot specifiedLikely benign
(Dec 18, 2017)
criteria provided, single submitter
3.
GRCh37:
Chr3:58416538
GRCh38:
Chr3:58430811
PDHBnot specifiedBenign
(Nov 6, 2012)
criteria provided, single submitter
4.
GRCh37:
Chr3:58416554
GRCh38:
Chr3:58430827
PDHBnot providedLikely pathogenic
(Jul 8, 2014)
criteria provided, single submitter
5.
GRCh37:
Chr3:58417304
GRCh38:
Chr3:58431577
PDHBnot specifiedBenign
(Apr 12, 2013)
criteria provided, single submitter
6.
GRCh37:
Chr3:58417313-58417323
GRCh38:
Chr3:58431586-58431596
PDHBnot providedPathogenic
(Feb 17, 2014)
criteria provided, single submitter
7.
GRCh37:
Chr3:58417335
GRCh38:
Chr3:58431608
PDHBnot specifiedBenign
(Jun 6, 2014)
criteria provided, single submitter
8.
GRCh37:
Chr3:58417537
GRCh38:
Chr3:58431810
PDHBnot specifiedLikely benign
(Apr 20, 2017)
criteria provided, single submitter
9.
GRCh37:
Chr3:58417595
GRCh38:
Chr3:58431868
PDHBnot specifiedLikely benign
(Nov 10, 2017)
criteria provided, single submitter
10.
GRCh37:
Chr3:58417610
GRCh38:
Chr3:58431883
PDHBnot specifiedBenign
(Apr 9, 2013)
criteria provided, single submitter
11.
GRCh37:
Chr3:58417676
GRCh38:
Chr3:58431949
PDHBPyruvate dehydrogenase complex deficiency, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
12.
GRCh37:
Chr3:58419344
GRCh38:
Chr3:58433617
PDHBnot specifiedLikely benign
(Nov 22, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr3:58419346
GRCh38:
Chr3:58433619
PDHBnot specifiedLikely benign
(Feb 12, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr3:58419367
GRCh38:
Chr3:58433640
PDHBnot specifiedLikely benign
(Jan 16, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr3:58419479
GRCh38:
Chr3:58433752
PDHBnot specifiedLikely benign
(May 5, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr3:58419529
GRCh38:
Chr3:58433802
PDHBnot specifiedLikely benign
(Dec 3, 2014)
criteria provided, single submitter
17.
GRCh37:
Chr3:58419541
GRCh38:
Chr3:58433814
PDHBnot specifiedLikely benign
(Feb 8, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr3:58419562
GRCh38:
Chr3:58433835
PDHBPyruvate dehydrogenase complex deficiency, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr3:52086599-59689209
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
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