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Items: 1 to 100 of 134

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:19369340
GRCh38:
ChrX:19351222
PDHA1not providedLikely benign
(Oct 28, 2020)
criteria provided, single submitter
2.
GRCh37:
ChrX:19372555
GRCh38:
ChrX:19354437
PDHA1not providedLikely benign
(Apr 12, 2019)
criteria provided, single submitter
3.
GRCh37:
ChrX:19373631
GRCh38:
ChrX:19355513
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyBenign
(Oct 24, 2022)
criteria provided, single submitter
4.
GRCh37:
ChrX:19373648-19373653
GRCh38:
ChrX:19355530-19355535
PDHA1not provided, Pyruvate dehydrogenase E1-alpha deficiencyBenign
(Oct 19, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
ChrX:19368063
GRCh38:
ChrX:19349945
PDHA1D42E, D80EPyruvate dehydrogenase E1-alpha deficiencyLikely benign
(Sep 5, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr3:58416496
GRCh38:
Chr3:58430769
PDHBPyruvate dehydrogenase E1-beta deficiencyLikely benign
(Oct 29, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr3:58414308
GRCh38:
Chr3:58428581
PDHBM258L, M276LPyruvate dehydrogenase complex deficiencyUncertain significance
(Aug 24, 2020)
no assertion criteria provided
8.
GRCh37:
Chr3:58414298
GRCh38:
Chr3:58428571
PDHBI261T, I279TPyruvate dehydrogenase E1-beta deficiencyUncertain significance
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr3:58414293
GRCh38:
Chr3:58428566
PDHBA263S, A281SPyruvate dehydrogenase E1-beta deficiencyUncertain significance
(Jan 19, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr3:58414287
GRCh38:
Chr3:58428560
PDHBV265I, V283IPyruvate dehydrogenase complex deficiencyUncertain significance
(Sep 30, 2020)
no assertion criteria provided
11.
GRCh37:
Chr3:58413839
GRCh38:
Chr3:58428112
PDHBPyruvate dehydrogenase E1-beta deficiencyLikely benign
(May 21, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr3:58413754
GRCh38:
Chr3:58428027
PDHBPyruvate dehydrogenase complex deficiencyUncertain significance
(Sep 22, 2020)
no assertion criteria provided
13.
GRCh37:
ChrX:19377740
GRCh38:
ChrX:19359622
PDHA1N350S, N381S, N388S, N419SPyruvate dehydrogenase complex deficiencyUncertain significance
(Aug 13, 2020)
no assertion criteria provided
14.
GRCh37:
ChrX:19373602
GRCh38:
ChrX:19355484
PDHA1D216N, D247N, D254N, D285Nnot providedUncertain significance
(Aug 9, 2021)
criteria provided, single submitter
15.
GRCh37:
ChrX:19373524
GRCh38:
ChrX:19355406
PDHA1I190V, I221V, I228V, I259Vnot providedUncertain significance
(Feb 21, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr3:58419540
GRCh38:
Chr3:58433813
PDHBPyruvate dehydrogenase E1-beta deficiencyUncertain significance
(Jul 14, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr3:58419512
GRCh38:
Chr3:58433785
PDHBPyruvate dehydrogenase E1-beta deficiencyUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr3:58417623
GRCh38:
Chr3:58431896
PDHBQ44R, Q62RPyruvate dehydrogenase complex deficiencyUncertain significance
(Sep 20, 2020)
no assertion criteria provided
19.
GRCh37:
Chr3:58413812
GRCh38:
Chr3:58428085
PDHBI343M, I325MPyruvate dehydrogenase E1-beta deficiencyUncertain significance
(Oct 24, 2022)
criteria provided, single submitter
20.
GRCh37:
ChrX:19377031-19377032
GRCh38:
ChrX:19358913-19358914
PDHA1not specified, not providedUncertain significance
(May 24, 2021)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
ChrX:19377881
GRCh38:
ChrX:19359763
PDHA1not provided, Pyruvate dehydrogenase E1-alpha deficiencyBenign
(Jan 12, 2018)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr7:107561344
GRCh38:
Chr7:107920899
DLDPyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr7:107560443
GRCh38:
Chr7:107919998
DLDPyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr7:107558445
GRCh38:
Chr7:107918000
DLDM339T, M415T, M438T, M390TPyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr7:107531725
GRCh38:
Chr7:107891280
DLDPyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome
Conflicting interpretations of pathogenicity
(Sep 7, 2022)
criteria provided, conflicting interpretations
26.
GRCh37:
Chr7:107561209
GRCh38:
Chr7:107920764
DLDPyruvate dehydrogenase complex deficiency, Leigh syndrome, Pyruvate dehydrogenase E3 deficiency
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr7:107560778
GRCh38:
Chr7:107920333
DLDPyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome
Benign
(Apr 27, 2017)
criteria provided, single submitter
28.
GRCh37:
Chr7:107560731
GRCh38:
Chr7:107920286
DLDPyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr7:107561580
GRCh38:
Chr7:107921135
DLDPyruvate dehydrogenase complex deficiency, Leigh syndrome, Pyruvate dehydrogenase E3 deficiency
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
30.
GRCh37:
Chr7:107561126
GRCh38:
Chr7:107920681
DLDPyruvate dehydrogenase complex deficiency, Leigh syndrome, Pyruvate dehydrogenase E3 deficiency
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr7:107561105
GRCh38:
Chr7:107920660
DLDPyruvate dehydrogenase complex deficiency, Leigh syndrome, Pyruvate dehydrogenase E3 deficiency
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr7:107560178
GRCh38:
Chr7:107919733
DLDPyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase complex deficiency, Leigh syndrome,
not provided
Benign/Likely benign
(Jun 17, 2021)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr7:107560174
GRCh38:
Chr7:107919729
DLDPyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase complex deficiency, Leigh syndrome,
not provided
Benign/Likely benign
(May 24, 2021)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr7:107542797
GRCh38:
Chr7:107902352
DLDL76FPyruvate dehydrogenase complex deficiency, Leigh syndrome, Pyruvate dehydrogenase E3 deficiency
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr7:107531686
GRCh38:
Chr7:107891241
DLDPyruvate dehydrogenase complex deficiency, Leigh syndrome, Pyruvate dehydrogenase E3 deficiency
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr7:107561004
GRCh38:
Chr7:107920559
DLDPyruvate dehydrogenase E3 deficiency, Leigh syndrome, Pyruvate dehydrogenase complex deficiency
Benign
(Jan 13, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr7:107560935
GRCh38:
Chr7:107920490
DLDPyruvate dehydrogenase E3 deficiency, Leigh syndrome, Pyruvate dehydrogenase complex deficiency
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr7:107560849
GRCh38:
Chr7:107920404
DLDLeigh syndrome, Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase complex deficiency
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr7:107560602
GRCh38:
Chr7:107920157
DLDPyruvate dehydrogenase E3 deficiency, Leigh syndrome, Pyruvate dehydrogenase complex deficiency
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr7:107560591
GRCh38:
Chr7:107920146
DLDPyruvate dehydrogenase E3 deficiency, Leigh syndrome, Pyruvate dehydrogenase complex deficiency
Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr7:107560549
GRCh38:
Chr7:107920104
DLDPyruvate dehydrogenase E3 deficiency, Leigh syndrome, Pyruvate dehydrogenase complex deficiency
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr7:107560098
GRCh38:
Chr7:107919653
DLDPyruvate dehydrogenase E3 deficiency, Leigh syndrome, Pyruvate dehydrogenase complex deficiency
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr7:107560078
GRCh38:
Chr7:107919633
DLDPyruvate dehydrogenase E3 deficiency, Leigh syndrome, Pyruvate dehydrogenase complex deficiency
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr7:107545887
GRCh38:
Chr7:107905442
DLDI151V, I174V, I75VLeigh syndrome, Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase complex deficiency
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
45.
GRCh37:
ChrX:19377629
GRCh38:
ChrX:19359511
PDHA1K313R, K382R, K344R, K351RPyruvate dehydrogenase E1-alpha deficiencyUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
46.
GRCh37:
ChrX:19375808
GRCh38:
ChrX:19357690
PDHA1Pyruvate dehydrogenase E1-alpha deficiency, Inborn genetic diseasesBenign/Likely benign
(Nov 2, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
ChrX:19375832
GRCh38:
ChrX:19357714
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyConflicting interpretations of pathogenicity
(Jul 9, 2018)
criteria provided, conflicting interpretations
48.
GRCh37:
ChrX:19377660
GRCh38:
ChrX:19359542
PDHA1Inborn genetic diseases, Pyruvate dehydrogenase E1-alpha deficiencyBenign/Likely benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr7:107545440
GRCh38:
Chr7:107904995
DLDPyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase complex deficiency, Leigh syndrome
Conflicting interpretations of pathogenicity
(Oct 13, 2022)
criteria provided, conflicting interpretations
50.
GRCh37:
ChrX:19377712
GRCh38:
ChrX:19359594
PDHA1D372N, D341N, D379N, D410Nnot provided, Inborn genetic diseases, Pyruvate dehydrogenase E1-alpha deficiency
Benign/Likely benign
(Oct 28, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr3:58417716
GRCh38:
Chr3:58431989
PDHBPyruvate dehydrogenase E1-beta deficiencyLikely benign
(Jul 25, 2022)
criteria provided, single submitter
52.
GRCh37:
ChrX:19373632
GRCh38:
ChrX:19355514
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyBenign
(Oct 31, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr3:58416556
GRCh38:
Chr3:58430829
PDHBPyruvate dehydrogenase E1-beta deficiencyLikely benign
(Jul 7, 2022)
criteria provided, single submitter
54.
GRCh37:
ChrX:19369426
GRCh38:
ChrX:19351308
PDHA1G114S, G107S, G145SPyruvate dehydrogenase E1-alpha deficiencyUncertain significance
(May 17, 2022)
criteria provided, single submitter
55.
GRCh37:
ChrX:19375777
GRCh38:
ChrX:19357659
PDHA1I249S, I318S, I280S, I287SPyruvate dehydrogenase complex deficiencyUncertain significance
(Apr 2, 2021)
reviewed by expert panel
FDA Recognized Database
56.
GRCh37:
ChrX:19368162
GRCh38:
ChrX:19350044
PDHA1E75D, E113DPyruvate dehydrogenase complex deficiencyPathogenic
(Nov 28, 2018)
criteria provided, single submitter
57.
GRCh37:
ChrX:19377106
GRCh38:
ChrX:19358988
PDHA1M324I, M293I, M331I, M362IInborn genetic diseases, Pyruvate dehydrogenase E1-alpha deficiencyUncertain significance
(Aug 24, 2021)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr7:107533660
GRCh38:
Chr7:107893215
DLDR19Gnot provided, Pyruvate dehydrogenase complex deficiency, Leigh syndrome,
Pyruvate dehydrogenase E3 deficiency
Uncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
ChrX:19377770-19377774
GRCh38:
ChrX:19359652-19359656
PDHA1not specifiedLikely benign
(Oct 16, 2017)
criteria provided, single submitter
60.
GRCh37:
Chr7:107545874
GRCh38:
Chr7:107905429
DLDPyruvate dehydrogenase E3 deficiency, Leigh syndrome, Pyruvate dehydrogenase complex deficiency,
not provided
Benign/Likely benign
(Nov 2, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
ChrX:19377647-19377648
GRCh38:
ChrX:19359529-19359530
PDHA1Pyruvate dehydrogenase complex deficiencyLikely pathogenic
(Sep 22, 2016)
criteria provided, single submitter
62.
GRCh37:
ChrX:19371272
GRCh38:
ChrX:19353154
PDHA1N164S, N202S, N171SPyruvate dehydrogenase E1-alpha deficiency, not provided, Pyruvate dehydrogenase complex deficiency
Pathogenic/Likely pathogenic
(Aug 2, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
ChrX:19377770-19377775
GRCh38:
ChrX:19359652-19359657
PDHA1not provided, not specified, Pyruvate dehydrogenase E1-alpha deficiency
Conflicting interpretations of pathogenicity
(Oct 12, 2022)
criteria provided, conflicting interpretations
64.
GRCh37:
Chr7:107543976
GRCh38:
Chr7:107903531
DLDnot provided, Leigh syndrome, Pyruvate dehydrogenase complex deficiency,
Pyruvate dehydrogenase E3 deficiency
Conflicting interpretations of pathogenicity
(Oct 6, 2022)
criteria provided, conflicting interpretations
65.
GRCh37:
ChrX:19373556
GRCh38:
ChrX:19355438
PDHA1Inborn genetic diseases, not specified, Pyruvate dehydrogenase E1-alpha deficiency
Benign/Likely benign
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
ChrX:19377133
GRCh38:
ChrX:19359015
PDHA1E333D, E371D, E340D, E302DPyruvate dehydrogenase complex deficiencyBenign
(May 6, 2021)
reviewed by expert panel
FDA Recognized Database
67.
GRCh37:
ChrX:19373842
GRCh38:
ChrX:19355724
PDHA1not provided, Pyruvate dehydrogenase E1-alpha deficiency, Inborn genetic diseases
Benign/Likely benign
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr7:107564539
GRCh38:
Chr7:107924094
DLD, LAMB1Cobblestone lissencephaly without muscular or ocular involvement, Maple syrup urine disease, Leigh syndrome,
not specified, Pyruvate dehydrogenase complex deficiency, not provided
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr3:58413353-58413354
GRCh38:
Chr3:58427626-58427627
PDHBPyruvate dehydrogenase complex deficiencyLikely benign
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr7:107561581
GRCh38:
Chr7:107921136
DLDPyruvate dehydrogenase complex deficiency, Leigh syndrome, Pyruvate dehydrogenase E3 deficiency
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr7:107561561
GRCh38:
Chr7:107921116
DLDPyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr7:107561495-107561498
GRCh38:
Chr7:107921050-107921053
DLDPyruvate dehydrogenase complex deficiency, Maple syrup urine disease, Leigh syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr7:107561440
GRCh38:
Chr7:107920995
DLDPyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
74.
GRCh37:
Chr7:107561428
GRCh38:
Chr7:107920983
DLDPyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr7:107561392
GRCh38:
Chr7:107920947
DLDPyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, not provided,
Leigh syndrome
Benign
(May 11, 2021)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr7:107561155
GRCh38:
Chr7:107920710
DLDPyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, not provided,
Leigh syndrome
Benign
(May 11, 2021)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr7:107561011
GRCh38:
Chr7:107920566
DLDPyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr7:107560796
GRCh38:
Chr7:107920351
DLDPyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase complex deficiency, Leigh syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr7:107560792
GRCh38:
Chr7:107920347
DLDPyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase complex deficiency, Leigh syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr7:107560682
GRCh38:
Chr7:107920237
DLDPyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome
Benign
(Jan 13, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr7:107560651
GRCh38:
Chr7:107920206
DLDPyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome
Benign
(Jan 13, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr7:107560559
GRCh38:
Chr7:107920114
DLDPyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome
Benign
(Jan 13, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr7:107560352
GRCh38:
Chr7:107919907
DLDLeigh syndrome, not provided, Pyruvate dehydrogenase complex deficiency,
Pyruvate dehydrogenase E3 deficiency
Benign/Likely benign
(May 24, 2021)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr7:107560202
GRCh38:
Chr7:107919757
DLDLeigh syndrome, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr7:107560191
GRCh38:
Chr7:107919746
DLDLeigh syndrome, not provided, Pyruvate dehydrogenase complex deficiency,
Pyruvate dehydrogenase E3 deficiency
Benign
(May 11, 2021)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr7:107560174
GRCh38:
Chr7:107919729
DLDLeigh syndrome, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
87.
GRCh37:
Chr7:107560059
GRCh38:
Chr7:107919614
DLDLeigh syndrome, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr7:107559929
GRCh38:
Chr7:107919484
DLDPyruvate dehydrogenase complex deficiency, Leigh syndrome, Pyruvate dehydrogenase E3 deficiency
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr7:107559911
GRCh38:
Chr7:107919466
DLDPyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome
Benign
(Jan 12, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr7:107559871
GRCh38:
Chr7:107919426
DLDPyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr7:107559732
GRCh38:
Chr7:107919287
DLDPyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome
Benign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr7:107559677
GRCh38:
Chr7:107919232
DLDLeigh syndrome, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency
Conflicting interpretations of pathogenicity
(Oct 31, 2022)
criteria provided, conflicting interpretations
93.
GRCh37:
Chr7:107559632
GRCh38:
Chr7:107919187
DLDLeigh syndrome, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency
Conflicting interpretations of pathogenicity
(Aug 16, 2022)
criteria provided, conflicting interpretations
94.
GRCh37:
Chr7:107557899
GRCh38:
Chr7:107917454
DLDK410Q, K362Q, K387Q, K311QPyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr7:107556126
GRCh38:
Chr7:107915681
DLDG287E, G239E, G188E, G264EPyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome
Uncertain significance
(Jul 2, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr7:107546806
GRCh38:
Chr7:107906361
DLDV226A, V178A, V203A, V127APyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr7:107542850
GRCh38:
Chr7:107902405
DLDMaple syrup urine disease, Leigh syndrome, Pyruvate dehydrogenase complex deficiency
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
98.
GRCh37:
Chr7:107533722
GRCh38:
Chr7:107893277
DLDLeigh syndrome, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr7:107533721
GRCh38:
Chr7:107893276
DLDP39LLeigh syndrome, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr7:107533679
GRCh38:
Chr7:107893234
DLDQ25PInborn genetic diseases, Pyruvate dehydrogenase complex deficiency, Leigh syndrome,
Pyruvate dehydrogenase E3 deficiency
Uncertain significance
(Feb 1, 2023)
criteria provided, multiple submitters, no conflicts
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