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Items: 1 to 100 of 463

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:76190037
GRCh38:
Chr1:75724352
ACADMnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000674048
2.
GRCh37:
Chr1:76190070
GRCh38:
Chr1:75724385
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000298057
3.
GRCh37:
Chr1:76190072
GRCh38:
Chr1:75724387
ACADMnot provided, Medium-chain acyl-coenzyme A dehydrogenase deficiencyBenign/Likely benign
(Jun 29, 2018)
criteria provided, multiple submitters, no conflictsVCV000298058
4.
GRCh37:
Chr1:76190098
GRCh38:
Chr1:75724413
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000298059
5.
GRCh37:
Chr1:76190111
GRCh38:
Chr1:75724426
ACADMnot provided, Medium-chain acyl-coenzyme A dehydrogenase deficiencyBenign/Likely benign
(Jun 29, 2018)
criteria provided, multiple submitters, no conflictsVCV000298060
6.
GRCh37:
Chr1:76190131
GRCh38:
Chr1:75724446
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000298061
7.
GRCh37:
Chr1:76190169
GRCh38:
Chr1:75724484
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000298062
8.
GRCh37:
Chr1:76190216
GRCh38:
Chr1:75724531
ACADMnot provided, Medium-chain acyl-coenzyme A dehydrogenase deficiencyBenign/Likely benign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000298063
9.
GRCh37:
Chr1:76190304
GRCh38:
Chr1:75724619
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000298064
10.
GRCh37:
Chr1:76190331
GRCh38:
Chr1:75724646
ACADMnot provided, Medium-chain acyl-coenzyme A dehydrogenase deficiencyBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000298065
11.
GRCh37:
Chr1:76190381
GRCh38:
Chr1:75724696
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000298066
12.
GRCh37:
Chr1:76190395
GRCh38:
Chr1:75724710
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000876394
13.
GRCh37:
Chr1:76190423
GRCh38:
Chr1:75724738
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000298067
14.
GRCh37:
Chr1:76190439
GRCh38:
Chr1:75724754
ACADMnot specified, Medium-chain acyl-coenzyme A dehydrogenase deficiencyBenign
(Nov 15, 2018)
criteria provided, multiple submitters, no conflictsVCV000136258
15.
GRCh37:
Chr1:76190444
GRCh38:
Chr1:75724759
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000298068
16.
GRCh37:
Chr1:76190456
GRCh38:
Chr1:75724771
ACADMnot provided, Medium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Aug 17, 2017)
criteria provided, multiple submitters, no conflictsVCV000226052
17.
GRCh37:
Chr1:76190467-76190478
GRCh38:
Chr1:75724782-75724793
ACADMM1fsMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely pathogenic
(Sep 6, 2019)
criteria provided, single submitterVCV000966945
18.
GRCh37:
Chr1:76190467-76190478
GRCh38:
Chr1:75724782-75724793
ACADMM1fsMedium-chain acyl-coenzyme A dehydrogenase deficiencyPathogenic
(Feb 20, 2015)
criteria provided, single submitterVCV000226085
19.
GRCh37:
Chr1:76190473
GRCh38:
Chr1:75724788
ACADMM1VMedium-chain acyl-coenzyme A dehydrogenase deficiency, not providedLikely pathogenic
(Apr 20, 2016)
criteria provided, single submitterVCV000370802
20.
GRCh37:
Chr1:76190475
GRCh38:
Chr1:75724790
ACADMM1IMedium-chain acyl-coenzyme A dehydrogenase deficiencyPathogenic/Likely pathogenic
(Sep 16, 2020)
criteria provided, multiple submitters, no conflictsVCV000555765
21.
GRCh37:
Chr1:76190478
GRCh38:
Chr1:75724793
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(May 6, 2020)
criteria provided, single submitterVCV001144965
22.
GRCh37:
Chr1:76190478
GRCh38:
Chr1:75724793
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Apr 22, 2020)
criteria provided, single submitterVCV001125582
23.
GRCh37:
Chr1:76190484
GRCh38:
Chr1:75724799
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Dec 3, 2019)
criteria provided, single submitterVCV001090807
24.
GRCh37:
Chr1:76190487
GRCh38:
Chr1:75724802
ACADMF5Lnot providedUncertain significance
(Jul 18, 2017)
criteria provided, single submitterVCV000617949
25.
GRCh37:
Chr1:76190493
GRCh38:
Chr1:75724808
ACADMM1VMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Jul 1, 2020)
criteria provided, single submitterVCV000799225
26.
GRCh37:
Chr1:76190504
GRCh38:
Chr1:75724819
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely pathogenic
(Mar 8, 2017)
criteria provided, single submitterVCV000551031
27.
GRCh37:
Chr1:76190510
GRCh38:
Chr1:75724825
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Oct 9, 2020)
criteria provided, single submitterVCV001143007
28.
GRCh37:
Chr1:76190511
GRCh38:
Chr1:75724826
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Nov 16, 2020)
criteria provided, single submitterVCV001080657
29.
GRCh37:
Chr1:76190511
GRCh38:
Chr1:75724826
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Dec 2, 2020)
criteria provided, single submitterVCV001077645
30.
GRCh37:
Chr1:76190512
GRCh38:
Chr1:75724827
ACADMnot specifiedLikely benign
(Jan 25, 2017)
criteria provided, single submitterVCV000506817
31.
GRCh37:
Chr1:76190568
GRCh38:
Chr1:75724883
ACADMnot providedBenign
(Jun 23, 2018)
criteria provided, single submitterVCV001292156
32.
GRCh37:
Chr1:76190569
GRCh38:
Chr1:75724884
ACADMnot providedBenign
(Jun 16, 2018)
criteria provided, single submitterVCV000676188
33.
GRCh37:
Chr1:76190690
GRCh38:
Chr1:75725005
ACADMnot providedBenign
(Jun 29, 2018)
criteria provided, single submitterVCV001245182
34.
GRCh37:
Chr1:76194013
GRCh38:
Chr1:75728328
ACADMnot provided, Medium-chain acyl-coenzyme A dehydrogenase deficiencyBenign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000226074
35.
GRCh37:
Chr1:76194049
GRCh38:
Chr1:75728364
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyBenign
(Feb 20, 2015)
criteria provided, single submitterVCV000226080
36.
GRCh37:
Chr1:76194054
GRCh38:
Chr1:75728369
ACADMnot provided, Medium-chain acyl-coenzyme A dehydrogenase deficiency, not specified
Benign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000254691
37.
GRCh37:
Chr1:76194082
GRCh38:
Chr1:75728397
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Feb 6, 2020)
criteria provided, single submitterVCV001151258
38.
GRCh37:
Chr1:76194088
GRCh38:
Chr1:75728403
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Oct 26, 2019)
criteria provided, single submitterVCV000751349
39.
GRCh37:
Chr1:76194089
GRCh38:
Chr1:75728404
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Feb 11, 2020)
criteria provided, single submitterVCV001095518
40.
GRCh37:
Chr1:76194102
GRCh38:
Chr1:75728417
ACADMS20fs, S16fsMedium-chain acyl-coenzyme A dehydrogenase deficiencyPathogenic
(Nov 20, 2017)
criteria provided, single submitterVCV000528454
41.
GRCh37:
Chr1:76194105
GRCh38:
Chr1:75728420
ACADMR17H, R21HMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Feb 20, 2015)
criteria provided, single submitterVCV000226078
42.
GRCh37:
Chr1:76194112
GRCh38:
Chr1:75728427
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyConflicting interpretations of pathogenicity
(Dec 7, 2020)
criteria provided, conflicting interpretationsVCV000298069
43.
GRCh37:
Chr1:76194116
GRCh38:
Chr1:75728431
ACADMnot specifiedLikely benign
(Feb 23, 2018)
criteria provided, single submitterVCV000515346
44.
GRCh37:
Chr1:76194122
GRCh38:
Chr1:75728437
ACADMQ27*, Q23*Medium-chain acyl-coenzyme A dehydrogenase deficiencyPathogenic
(Nov 9, 2018)
criteria provided, single submitterVCV000665907
45.
GRCh37:
Chr1:76194129-76194130
GRCh38:
Chr1:75728444-75728445
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(May 8, 2017)
criteria provided, single submitterVCV000551808
46.
GRCh37:
Chr1:76194140
GRCh38:
Chr1:75728455
ACADMR29*, R33*Medium-chain acyl-coenzyme A dehydrogenase deficiencyPathogenic
(Feb 21, 2019)
criteria provided, single submitterVCV000928650
47.
GRCh37:
Chr1:76194141
GRCh38:
Chr1:75728456
ACADMR29L, R33LMedium-chain acyl-coenzyme A dehydrogenase deficiencyPathogenic
(May 13, 2020)
criteria provided, single submitterVCV000203537
48.
GRCh37:
Chr1:76194147
GRCh38:
Chr1:75728462
ACADMR31H, R35Hnot specified, Medium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Sep 21, 2021)
criteria provided, multiple submitters, no conflictsVCV000859753
49.
GRCh37:
Chr1:76194154
GRCh38:
Chr1:75728469
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Jun 10, 2020)
criteria provided, single submitterVCV001100912
50.
GRCh37:
Chr1:76194157-76194158
GRCh38:
Chr1:75728472-75728473
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyPathogenic/Likely pathogenic
(Aug 25, 2020)
criteria provided, multiple submitters, no conflictsVCV000226104
51.
GRCh37:
Chr1:76194159
GRCh38:
Chr1:75728474
ACADML39*, L35*Medium-chain acyl-coenzyme A dehydrogenase deficiencyPathogenic
(Nov 5, 2019)
criteria provided, single submitterVCV000964031
52.
GRCh37:
Chr1:76194167
GRCh38:
Chr1:75728482
ACADMS38R, S42Rnot providedUncertain significance
(Jan 18, 2020)
criteria provided, single submitterVCV001311433
53.
GRCh37:
Chr1:76194173
GRCh38:
Chr1:75728488
ACADME40Q, E44Qnot providedUncertain significance
(Oct 1, 2015)
criteria provided, single submitterVCV000092255
54.
GRCh37:
Chr1:76194174
GRCh38:
Chr1:75728489
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely pathogenic
(Mar 1, 2016)
criteria provided, single submitterVCV000370561
55.
GRCh37:
Chr1:76194183
GRCh38:
Chr1:75728498
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Oct 14, 2020)
criteria provided, single submitterVCV000737014
56.
GRCh37:
Chr1:76194191
GRCh38:
Chr1:75728506
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyBenign/Likely benign
(Nov 16, 2017)
criteria provided, multiple submitters, no conflictsVCV000226101
57.
GRCh37:
Chr1:76194230
GRCh38:
Chr1:75728545
ACADMnot provided, Medium-chain acyl-coenzyme A dehydrogenase deficiencyBenign
(Jul 14, 2021)
criteria provided, multiple submitters, no conflictsVCV000226050
58.
GRCh37:
Chr1:76194235
GRCh38:
Chr1:75728550
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyBenign
(Feb 20, 2015)
criteria provided, single submitterVCV000226051
59.
GRCh37:
Chr1:76194287
GRCh38:
Chr1:75728602
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyBenign
(Feb 20, 2015)
criteria provided, single submitterVCV000226090
60.
GRCh37:
Chr1:76194306
GRCh38:
Chr1:75728621
ACADMnot providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001261087
61.
GRCh37:
Chr1:76198033
GRCh38:
Chr1:75732348
ACADMnot providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000682748
62.
GRCh37:
Chr1:76198246
GRCh38:
Chr1:75732561
ACADMnot providedBenign
(Jul 21, 2018)
criteria provided, single submitterVCV001227424
63.
GRCh37:
Chr1:76198309
GRCh38:
Chr1:75732624
ACADMnot specified, Medium-chain acyl-coenzyme A dehydrogenase deficiencyBenign
(Dec 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000092256
64.
GRCh37:
Chr1:76198328
GRCh38:
Chr1:75732643
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely pathogenic
(Mar 29, 2020)
criteria provided, single submitterVCV000842838
65.
GRCh37:
Chr1:76198330
GRCh38:
Chr1:75732645
ACADMnot providedLikely benign
(Apr 3, 2018)
criteria provided, single submitterVCV000740709
66.
GRCh37:
Chr1:76198335
GRCh38:
Chr1:75732650
ACADMT42I, T46I, T6Inot provided, Medium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Aug 18, 2020)
criteria provided, multiple submitters, no conflictsVCV000281033
67.
GRCh37:
Chr1:76198336
GRCh38:
Chr1:75732651
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Aug 10, 2020)
criteria provided, single submitterVCV000799064
68.
GRCh37:
Chr1:76198337
GRCh38:
Chr1:75732652
ACADME43K, E47K, E7KMedium-chain acyl-coenzyme A dehydrogenase deficiency, not providedConflicting interpretations of pathogenicity
(Dec 8, 2020)
criteria provided, conflicting interpretationsVCV000092257
69.
GRCh37:
Chr1:76198341
GRCh38:
Chr1:75732656
ACADMQ44R, Q48R, Q8Rnot provided, Medium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Sep 11, 2020)
criteria provided, multiple submitters, no conflictsVCV000265023
70.
GRCh37:
Chr1:76198344
GRCh38:
Chr1:75732659
ACADMQ45R, Q9R, Q49Rnot provided, Medium-chain acyl-coenzyme A dehydrogenase deficiencyConflicting interpretations of pathogenicity
(Oct 3, 2018)
criteria provided, conflicting interpretationsVCV000281077
71.
GRCh37:
Chr1:76198349
GRCh38:
Chr1:75732664
ACADME11K, E47K, E51KMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Jul 14, 2021)
criteria provided, single submitterVCV001195910
72.
GRCh37:
Chr1:76198367
GRCh38:
Chr1:75732682
ACADMR53C, R57C, R17CMedium-chain acyl-coenzyme A dehydrogenase deficiency, not providedPathogenic
(May 6, 2020)
criteria provided, multiple submitters, no conflictsVCV000092258
73.
GRCh37:
Chr1:76198368
GRCh38:
Chr1:75732683
ACADMR53H, R57H, R17HMedium-chain acyl-coenzyme A dehydrogenase deficiency, not providedConflicting interpretations of pathogenicity
(May 5, 2021)
criteria provided, conflicting interpretationsVCV000226066
74.
GRCh37:
Chr1:76198373
GRCh38:
Chr1:75732688
ACADMF55fs, F19fs, F59fsMedium-chain acyl-coenzyme A dehydrogenase deficiencyPathogenic
(Jan 26, 2018)
criteria provided, single submitterVCV000576994
75.
GRCh37:
Chr1:76198379-76198380
GRCh38:
Chr1:75732694-75732695
ACADME58fs, E62fs, E22fsMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely pathogenic
(Aug 30, 2016)
criteria provided, single submitterVCV000371320
76.
GRCh37:
Chr1:76198381
GRCh38:
Chr1:75732696
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Dec 4, 2020)
criteria provided, single submitterVCV001094082
77.
GRCh37:
Chr1:76198387
GRCh38:
Chr1:75732702
ACADME59D, E23D, E63Dnot provided, Medium-chain acyl-coenzyme A dehydrogenase deficiencyConflicting interpretations of pathogenicity
(Aug 19, 2019)
criteria provided, conflicting interpretationsVCV000377419
78.
GRCh37:
Chr1:76198402
GRCh38:
Chr1:75732717
ACADMnot providedLikely benign
(Jul 20, 2018)
criteria provided, single submitterVCV000764742
79.
GRCh37:
Chr1:76198405
GRCh38:
Chr1:75732720
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Nov 10, 2020)
criteria provided, single submitterVCV000697502
80.
GRCh37:
Chr1:76198409
GRCh38:
Chr1:75732724
ACADMY67H, Y71H, Y31HMedium-chain acyl-coenzyme A dehydrogenase deficiency, not providedPathogenic/Likely pathogenic
(Apr 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000003597
81.
GRCh37:
Chr1:76198411
GRCh38:
Chr1:75732726
ACADMY31*, Y67*, Y71*Medium-chain acyl-coenzyme A dehydrogenase deficiencyPathogenic/Likely pathogenic
(May 28, 2019)
criteria provided, multiple submitters, no conflictsVCV000801498
82.
GRCh37:
Chr1:76198413
GRCh38:
Chr1:75732728
ACADMD32fs, D68fs, D72fsMedium-chain acyl-coenzyme A dehydrogenase deficiencyPathogenic
(Feb 21, 2020)
criteria provided, single submitterVCV001068759
83.
GRCh37:
Chr1:76198420
GRCh38:
Chr1:75732735
ACADMnot provided, Medium-chain acyl-coenzyme A dehydrogenase deficiencyConflicting interpretations of pathogenicity
(Nov 27, 2020)
criteria provided, conflicting interpretationsVCV000384767
84.
GRCh37:
Chr1:76198422
GRCh38:
Chr1:75732737
ACADMG71D, G75D, G35DMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Apr 10, 2018)
criteria provided, single submitterVCV000557685
85.
GRCh37:
Chr1:76198423
GRCh38:
Chr1:75732738
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Nov 16, 2019)
criteria provided, single submitterVCV001106790
86.
GRCh37:
Chr1:76198427
GRCh38:
Chr1:75732742
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely pathogenic
(Apr 21, 2016)
criteria provided, single submitterVCV000370830
87.
GRCh37:
Chr1:76198428
GRCh38:
Chr1:75732743
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyPathogenic
(Dec 26, 2018)
criteria provided, single submitterVCV000811864
88.
GRCh37:
Chr1:76198428
GRCh38:
Chr1:75732743
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiency, not providedPathogenic
(Jul 9, 2020)
criteria provided, multiple submitters, no conflictsVCV000092260
89.
GRCh37:
Chr1:76198431
GRCh38:
Chr1:75732746
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely pathogenic
(Feb 26, 2020)
criteria provided, single submitterVCV001066634
90.
GRCh37:
Chr1:76198433
GRCh38:
Chr1:75732748
ACADMnot providedLikely benign
(May 19, 2018)
criteria provided, single submitterVCV000743310
91.
GRCh37:
Chr1:76198436
GRCh38:
Chr1:75732751
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Mar 23, 2020)
criteria provided, single submitterVCV001079799
92.
GRCh37:
Chr1:76198436
GRCh38:
Chr1:75732751
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiency, not specifiedBenign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000092259
93.
GRCh37:
Chr1:76198528
GRCh38:
Chr1:75732843
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Aug 29, 2020)
criteria provided, single submitterVCV001097174
94.
GRCh37:
Chr1:76198536
GRCh38:
Chr1:75732851
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely pathogenic
(Jun 23, 2020)
criteria provided, single submitterVCV001066760
95.
GRCh37:
Chr1:76198537
GRCh38:
Chr1:75732852
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyPathogenic
(Jul 1, 2019)
criteria provided, single submitterVCV000643196
96.
GRCh37:
Chr1:76198539
GRCh38:
Chr1:75732854
ACADMY73C, Y77C, Y37Cnot providedLikely pathogenic
(Oct 18, 2016)
criteria provided, single submitterVCV000381630
97.
GRCh37:
Chr1:76198542
GRCh38:
Chr1:75732857
ACADMP38L, P74L, P78LMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Nov 12, 2019)
criteria provided, single submitterVCV000967308
98.
GRCh37:
Chr1:76198545
GRCh38:
Chr1:75732860
ACADMV79fs, V39fs, V75fsMedium-chain acyl-coenzyme A dehydrogenase deficiency, not providedLikely pathogenic
(Feb 9, 2018)
criteria provided, multiple submitters, no conflictsVCV000370428
99.
GRCh37:
Chr1:76198550
GRCh38:
Chr1:75732865
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Jun 23, 2020)
criteria provided, single submitterVCV000793959
100.
GRCh37:
Chr1:76198551
GRCh38:
Chr1:75732866
ACADML77Q, L81Q, L41Qnot providedUncertain significance
(Oct 1, 2015)
criteria provided, single submitterVCV000280944
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