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Items: 1 to 100 of 260

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyPathogenic
(Nov 1, 1995)
no assertion criteria provided
2.
GRCh37:
ChrX:70297-39353364
not providedPathogenic
(Apr 5, 2018)
criteria provided, single submitter
3.
GRCh37:
ChrX:19362133
GRCh38:
ChrX:19344015
PDHA1not specifiedLikely benign
(Dec 29, 2016)
criteria provided, single submitter
4.
GRCh37:
ChrX:19362184
GRCh38:
ChrX:19344066
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyPathogenic
(Oct 1, 1995)
no assertion criteria provided
5.
GRCh37:
ChrX:19364613
GRCh38:
ChrX:19346494-19346495
PDHA1not providedLikely benign
(May 4, 2017)
criteria provided, single submitter
6.
GRCh37:
ChrX:19364694
GRCh38:
ChrX:19346576
PDHA1not specified, not providedBenign
(Jan 5, 2017)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
ChrX:19367429
GRCh38:
ChrX:19349311
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyPathogenic
(Apr 5, 2018)
criteria provided, single submitter
8.
GRCh37:
ChrX:19367437
GRCh38:
ChrX:19349319
PDHA1Seizures, Epileptic encephalopathyUncertain significance
(Jun 11, 2014)
criteria provided, single submitter
9.
GRCh37:
ChrX:19367454
GRCh38:
ChrX:19349336
PDHA1not specifiedUncertain significance
(Sep 5, 2014)
criteria provided, single submitter
10.
GRCh37:
ChrX:19367469
GRCh38:
ChrX:19349351
PDHA1not specified, not providedBenign/Likely benign
(Aug 1, 2017)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
ChrX:19367508
GRCh38:
ChrX:19349390
PDHA1not specifiedLikely benign
(Feb 11, 2016)
criteria provided, single submitter
12.
GRCh37:
ChrX:19368038
GRCh38:
ChrX:19349920
PDHA1not specifiedLikely benign
(Jul 10, 2017)
criteria provided, single submitter
13.
GRCh37:
ChrX:19368084
GRCh38:
ChrX:19349966
PDHA1not specifiedLikely benign
(Jul 26, 2017)
criteria provided, single submitter
14.
GRCh37:
ChrX:19368151
GRCh38:
ChrX:19350033
PDHA1Pyruvate dehydrogenase E1-alpha deficiency, not provided, Inborn genetic diseases
Pathogenic/Likely pathogenic
(May 21, 2018)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
ChrX:19368189
GRCh38:
ChrX:19350071
PDHA1not specifiedLikely benign
(Jul 7, 2017)
criteria provided, single submitter
16.
GRCh37:
ChrX:19368202
GRCh38:
ChrX:19350084
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyUncertain significance
(Sep 1, 2017)
criteria provided, single submitter
17.
GRCh37:
ChrX:19369376
GRCh38:
ChrX:19351258
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyPathogenic
(Jan 25, 2015)
no assertion criteria provided
18.
GRCh37:
ChrX:19369394
GRCh38:
ChrX:19351276
PDHA1not specifiedLikely benign
(Jun 23, 2017)
criteria provided, single submitter
19.
GRCh37:
ChrX:19369398
GRCh38:
ChrX:19351280
PDHA1not providedPathogenic
(Aug 8, 2014)
criteria provided, single submitter
20.
GRCh37:
ChrX:19369418
GRCh38:
ChrX:19351300
PDHA1not specified, not providedConflicting interpretations of pathogenicity
(Mar 28, 2017)
criteria provided, conflicting interpretations
21.
GRCh37:
ChrX:19369470
GRCh38:
ChrX:19351352
PDHA1not specifiedLikely benign
(May 23, 2017)
criteria provided, single submitter
22.
GRCh37:
ChrX:19369471
GRCh38:
ChrX:19351353
PDHA1not providedLikely pathogenic
(Oct 15, 2015)
criteria provided, single submitter
23.
GRCh37:
ChrX:19369503
GRCh38:
ChrX:19351385
PDHA1not specifiedLikely benign
(Mar 12, 2018)
criteria provided, single submitter
24.
GRCh37:
ChrX:19369513
GRCh38:
ChrX:19351395
PDHA1not providedUncertain significance
(Aug 1, 2017)
criteria provided, single submitter
25.
GRCh37:
ChrX:19369516
GRCh38:
ChrX:19351398
PDHA1not providedLikely pathogenic
(Sep 16, 2016)
criteria provided, single submitter
26.
GRCh37:
ChrX:19371203
GRCh38:
ChrX:19353085
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyPathogenic
(Sep 23, 2013)
no assertion criteria provided
27.
GRCh37:
ChrX:19371208
GRCh38:
ChrX:19353090
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyUncertain significance
(Jun 23, 2014)
no assertion criteria provided
28.
GRCh37:
ChrX:19371215
GRCh38:
ChrX:19353097
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyUncertain significance
(Oct 11, 2017)
criteria provided, single submitter
29.
GRCh37:
ChrX:19371236
GRCh38:
ChrX:19353118
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyLikely pathogenic
(Dec 7, 2017)
criteria provided, single submitter
30.
GRCh37:
ChrX:19371237
GRCh38:
ChrX:19353119
PDHA1not specifiedLikely benign
(Oct 5, 2017)
criteria provided, single submitter
31.
GRCh37:
ChrX:19371242
GRCh38:
ChrX:19353124
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyLikely pathogenic
(Jan 12, 2017)
criteria provided, single submitter
32.
GRCh37:
ChrX:19371244
GRCh38:
ChrX:19353126
PDHA1not specifiedUncertain significance
(Jun 3, 2014)
criteria provided, single submitter
33.
GRCh37:
ChrX:19371263
GRCh38:
ChrX:19353145
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyPathogenic
(Sep 1, 2017)
criteria provided, single submitter
34.
GRCh37:
ChrX:19371264
GRCh38:
ChrX:19353146
PDHA1not providedPathogenic/Likely pathogenic
(Oct 15, 2015)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
ChrX:19371270
GRCh38:
ChrX:19353152
PDHA1not providedLikely benign
(Feb 26, 2016)
no assertion criteria provided
36.
GRCh37:
ChrX:19371272
GRCh38:
ChrX:19353154
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyPathogenic
(Dec 9, 2017)
criteria provided, single submitter
37.
GRCh37:
ChrX:19371287
GRCh38:
ChrX:19353169
PDHA1Pyruvate dehydrogenase E1-alpha deficiency, not providedPathogenic
(Jan 17, 2018)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
ChrX:19371288
GRCh38:
ChrX:19353170
PDHA1not specifiedConflicting interpretations of pathogenicity
(Feb 7, 2018)
criteria provided, conflicting interpretations
39.
GRCh37:
ChrX:19371303
GRCh38:
ChrX:19353185
PDHA1not specifiedBenign
(Oct 22, 2015)
criteria provided, single submitter
40.
GRCh37:
ChrX:19372621
GRCh38:
ChrX:19354503
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyPathogenic
(Sep 1, 2017)
criteria provided, single submitter
41.
GRCh37:
ChrX:19372634
GRCh38:
ChrX:19354516
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyLikely pathogenic
(Dec 7, 2017)
criteria provided, single submitter
42.
GRCh37:
ChrX:19373452
GRCh38:
ChrX:19355334
PDHA1not specifiedBenign
(Jul 6, 2011)
criteria provided, single submitter
43.
GRCh37:
ChrX:19373453
GRCh38:
ChrX:19355335
PDHA1not specifiedBenign
(May 6, 2015)
criteria provided, single submitter
44.
GRCh37:
ChrX:19373457
GRCh38:
ChrX:19355339
PDHA1not specifiedBenign
(Jul 28, 2016)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
ChrX:19373478
GRCh38:
ChrX:19355360
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyPathogenic
(Dec 9, 2017)
criteria provided, single submitter
46.
GRCh37:
ChrX:19373479
GRCh38:
ChrX:19355361
PDHA1Inborn genetic diseasesUncertain significance
(Dec 15, 2016)
criteria provided, single submitter
47.
GRCh37:
ChrX:19373491
GRCh38:
ChrX:19355373
PDHA1not specifiedUncertain significance
(Jan 12, 2015)
criteria provided, single submitter
48.
GRCh37:
ChrX:19373503
GRCh38:
ChrX:19355385
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyLikely pathogenic
(Nov 5, 2015)
criteria provided, single submitter
49.
GRCh37:
ChrX:19373511
GRCh38:
ChrX:19355393
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyPathogenic
(Oct 9, 2002)
no assertion criteria provided
50.
GRCh37:
ChrX:19373513
GRCh38:
ChrX:19355395
PDHA1not providedPathogenic
(May 22, 2017)
criteria provided, single submitter
51.
GRCh37:
ChrX:19373556
GRCh38:
ChrX:19355438
PDHA1not specifiedLikely benign
(Sep 8, 2017)
criteria provided, single submitter
52.
GRCh37:
ChrX:19373570
GRCh38:
ChrX:19355452
PDHA1not providedLikely pathogenic
(Sep 8, 2014)
criteria provided, single submitter
53.
GRCh37:
ChrX:19373590
GRCh38:
ChrX:19355472
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyPathogenic
(Aug 15, 2017)
no assertion criteria provided
54.
GRCh37:
ChrX:19373598
GRCh38:
ChrX:19355480
PDHA1Inborn genetic diseasesPathogenic
(May 31, 2016)
criteria provided, single submitter
55.
GRCh37:
ChrX:19373601
GRCh38:
ChrX:19355483
PDHA1not providedLikely pathogenic
(May 5, 2016)
criteria provided, single submitter
56.
GRCh37:
ChrX:19373609
GRCh38:
ChrX:19355491
PDHA1not providedLikely pathogenic
(May 17, 2013)
criteria provided, single submitter
57.
GRCh37:
ChrX:19373617
GRCh38:
ChrX:19355499
PDHA1not providedLikely pathogenic
(Feb 18, 2016)
criteria provided, single submitter
58.
GRCh37:
ChrX:19373648
GRCh38:
ChrX:19355530
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyUncertain significance
(Dec 6, 2017)
criteria provided, single submitter
59.
GRCh37:
ChrX:19373662-19373667
GRCh38:
ChrX:19355544-19355549
PDHA1not specifiedLikely benign
(Mar 1, 2016)
criteria provided, single submitter
60.
GRCh37:
ChrX:19373789
GRCh38:
ChrX:19355671
PDHA1not specifiedBenign
(Aug 9, 2012)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
ChrX:19373803
GRCh38:
ChrX:19355685
PDHA1not providedPathogenic
(Jul 24, 2016)
criteria provided, single submitter
62.
GRCh37:
ChrX:19373817
GRCh38:
ChrX:19355699
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyPathogenic
(Jun 1, 1994)
no assertion criteria provided
63.
GRCh37:
ChrX:19373828
GRCh38:
ChrX:19355710
PDHA1not specified, Inborn genetic diseasesLikely benign
(Aug 24, 2016)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
ChrX:19373831
GRCh38:
ChrX:19355713
PDHA1Pyruvate dehydrogenase E1-alpha deficiency, not providedPathogenic
(Nov 2, 2015)
criteria provided, single submitter
65.
GRCh37:
ChrX:19373839
GRCh38:
ChrX:19355721
PDHA1not specified, not providedBenign
(Aug 9, 2012)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
ChrX:19373842
GRCh38:
ChrX:19355724
PDHA1not specifiedLikely benign
(Jul 7, 2016)
criteria provided, single submitter
67.
GRCh37:
ChrX:19373890
GRCh38:
ChrX:19355772
PDHA1not specifiedBenign
(Jul 6, 2011)
criteria provided, single submitter
68.
GRCh37:
ChrX:19375769
GRCh38:
ChrX:19357651
PDHA1Inborn genetic diseasesPathogenic
(Oct 12, 2017)
criteria provided, single submitter
69.
GRCh37:
ChrX:19375770
GRCh38:
ChrX:19357652
PDHA1not providedLikely pathogenic
(Mar 24, 2016)
criteria provided, single submitter
70.
GRCh37:
ChrX:19375782
GRCh38:
ChrX:19357664
PDHA1Pyruvate dehydrogenase E1-alpha deficiency, not specified, not provided
Benign
(Nov 2, 2016)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
ChrX:19375792
GRCh38:
ChrX:19357674
PDHA1not specifiedUncertain significance
(Jul 31, 2013)
criteria provided, single submitter
72.
GRCh37:
ChrX:19375796-19375799
GRCh38:
ChrX:19357678-19357681
PDHA1not providedPathogenic
(Jun 28, 2016)
criteria provided, single submitter
73.
GRCh37:
ChrX:19375799
GRCh38:
ChrX:19357681
PDHA1not specifiedLikely benign
(Dec 15, 2015)
criteria provided, single submitter
74.
GRCh37:
ChrX:19375799-19375800
GRCh38:
ChrX:19357681-19357682
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyPathogenic
(Aug 16, 2017)
no assertion criteria provided
75.
GRCh37:
ChrX:19375801
GRCh38:
ChrX:19357683
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyPathogenic
(Oct 1, 1999)
no assertion criteria provided
76.
GRCh37:
ChrX:19375849
GRCh38:
ChrX:19357731
PDHA1not specifiedBenign
(Jan 8, 2013)
criteria provided, single submitter
77.
GRCh37:
ChrX:19375855
GRCh38:
ChrX:19357737
PDHA1not specifiedBenign
(Jul 17, 2014)
criteria provided, single submitter
78.
GRCh37:
ChrX:19377017
GRCh38:
ChrX:19358899
PDHA1not specifiedLikely benign
(Mar 6, 2018)
criteria provided, single submitter
79.
GRCh37:
ChrX:19377024
GRCh38:
ChrX:19358906
PDHA1not specifiedLikely benign
(Aug 5, 2016)
criteria provided, single submitter
80.
GRCh37:
ChrX:19377031-19377051
GRCh38:
ChrX:19358913-19358933
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyPathogenic
(Jun 1, 1998)
no assertion criteria provided
81.
GRCh37:
ChrX:19377032
GRCh38:
ChrX:19358914
PDHA1not providedPathogenic
(Sep 18, 2017)
criteria provided, single submitter
82.
GRCh37:
ChrX:19377038
GRCh38:
ChrX:19358920
PDHA1Pyruvate dehydrogenase E1-alpha deficiency, not provided, Inborn genetic diseases
Pathogenic/Likely pathogenic
(Jun 8, 2018)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
ChrX:19377039
GRCh38:
ChrX:19358921
PDHA1not providedPathogenic
(Sep 9, 2015)
criteria provided, single submitter
84.
GRCh37:
ChrX:19377044
GRCh38:
ChrX:19358926
PDHA1not providedPathogenic
(Apr 24, 2014)
criteria provided, single submitter
85.
GRCh37:
ChrX:19377055-19377066
GRCh38:
ChrX:19358937-19358948
PDHA1not providedPathogenic
(Oct 28, 2016)
criteria provided, single submitter
86.
GRCh37:
ChrX:19377063-19377066
GRCh38:
ChrX:19358945-19358948
PDHA1not providedPathogenic
(Dec 6, 2017)
criteria provided, single submitter
87.
GRCh37:
ChrX:19377064-19377066
GRCh38:
ChrX:19358946-19358948
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyPathogenic
(Nov 15, 2017)
criteria provided, single submitter
88.
GRCh37:
ChrX:19377068-19377074
GRCh38:
ChrX:19358950-19358956
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyPathogenic
(Mar 20, 2018)
no assertion criteria provided
89.
GRCh37:
ChrX:19377070-19377073
GRCh38:
ChrX:19358952-19358955
PDHA1not providedPathogenic
(Sep 9, 2013)
criteria provided, single submitter
90.
GRCh37:
ChrX:19377071-19377074
GRCh38:
ChrX:19358953-19358956
PDHA1not providedPathogenic
(Jul 19, 2017)
criteria provided, single submitter
91.
GRCh37:
ChrX:19377071-19377073
GRCh38:
ChrX:19358953-19358955
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyPathogenic
(Jan 1, 1991)
no assertion criteria provided
92.
GRCh37:
ChrX:19377077
GRCh38:
ChrX:19358959
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyPathogenic
(Aug 15, 2017)
no assertion criteria provided
93.
GRCh37:
ChrX:19377088
GRCh38:
ChrX:19358970
PDHA1not providedPathogenic
(May 18, 2016)
criteria provided, single submitter
94.
GRCh37:
ChrX:19377118
GRCh38:
ChrX:19359000
PDHA1not specifiedUncertain significance
(Dec 23, 2014)
criteria provided, single submitter
95.
GRCh37:
ChrX:19377119-19377132
GRCh38:
ChrX:19359001-19359014
PDHA1not providedPathogenic
(Jun 14, 2016)
criteria provided, single submitter
96.
GRCh37:
ChrX:19377133
GRCh38:
ChrX:19359015
PDHA1not specifiedBenign
(Jun 3, 2015)
criteria provided, single submitter
97.
GRCh37:
ChrX:19377143-19377169
GRCh38:
ChrX:19359025-19359051
PDHA1not providedPathogenic
(Jan 7, 2013)
criteria provided, single submitter
98.
GRCh37:
ChrX:19377623
GRCh38:
ChrX:19359505
PDHA1not providedLikely pathogenic
(Aug 2, 2016)
criteria provided, single submitter
99.
GRCh37:
ChrX:19377623-19377637
GRCh38:
ChrX:19359506-19359519
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyPathogenic
(Sep 1, 2017)
criteria provided, single submitter
100.
GRCh37:
ChrX:19377632-19377635
GRCh38:
ChrX:19359514-19359517
PDHA1not providedPathogenic
(Oct 3, 2017)
criteria provided, single submitter
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