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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:53061024-77233450
GRCh38:
Chr1:52595352-76767765
DEPDC1, LOC120893136, MSH4, MIR12132, C1orf87, PRKAA2, LOC112590814, LOC112590805, LOC122056891, JAK1, LRRC7, BSND, AK4, LOC122094844, LOC122056880, MAGOH, LINC02784, LOC112590816, TMEM61, ANKRD13C, TYW3, ECHDC2, PCSK9, LOC114827846, LOC115801430, SHISAL2A, ALG6, LOC121725026, LOC121725025, LOC122056877, IL23R, MIR4422HG, LOC112590807, LOC122094851, LOC122094849, LRP8-DT, ZYG11B, SRSF11, TCEANC2, LOC122094853, HSD52, ST6GALNAC3, LOC121725030, LOC112590804, ERICH3-AS1, NEGR1-IT1, MIR4794, LOC122094846, LOC112590810, ZYG11A, FPGT, SERBP1, IL12RB2, LINC01359, LOC120893135, MIR6068, PGM1, LOC110121124, MAGOH-DT, PTGER3, NEGR1, EFCAB7, FPGT-TNNI3K, LOC122056878, LOC122056876, LEPROT, NFIA, SLC1A7, FAM151A, LOC120893137, LOC122094850, LOC122094839, ROR1, LEXM, PDE4B-AS1, USP24, MIR5095, LOC112590812, LEPR, LOC120893140, LOC121725028, CRYZ, MROH7-TTC4, LOC122056888, DLEU2L, LOC112590809, LOC120893138, CYP2J2, LOC120893134, LOC122056873, COA7, ACOT11, SLC44A5, GNG12, DMRTB1, FOXD3, LOC101929935, NFIA-AS2, LOC122056895, JUN, PATJ, SNORD45B, LOC100507634, LINC01748, LOC122094842, LOC122056874, GADD45A, KANK4, LOC110120659, SSBP3-AS1, LOC120893141, PLPP3, HHLA3, ACADM, SNORD45A, LOC122056898, LOC112590806, SLC35D1, LOC101927342, MIR3116-1, LOC101926944, MRPL37, LOC122056892, DIO1, LINC02777, DNAI4, MIR3671, TM2D1, HSPB11, HOOK1, LINC01707, CZIB, LOC122056879, LOC101926964, CYB5RL, NFIA-AS1, LOC122056897, PARS2, ROR1-AS1, MIER1, DAB1-AS1, LRRC40, INSL5, TRK-CTT7-1, LINC01758, LRRC7-AS1, LOC112590808, RABGGTB, DYNLT5, CACHD1, LOC122094840, RAVER2, LDLRAD1, LINC02567, LOC122056890, C1orf141, CDCP2, MYSM1, LINC01135, LOC122094841, DHCR24, SCP2, LOC122056883, LOC121725023, LOC121725032, LINC01739, LOC121725029, LOC122094843, LOC115801429, LRRIQ3, RPE65, TNNI3K, MIR186, ITGB3BP, WLS, LRRC53, LOC122056887, C8A, LOC112590819, LINC01755, UBE2U, MIR3117, LOC120893139, LOC122056881, LOC122094845, LOC122056889, HHLA3-AS1, ZRANB2-DT, NDC1, LOC122056875, LINC02796, GNG12-AS1, LOC122056882, LOC122094848, DNAJC6, ZRANB2-AS1, LINC02791, MIR1262, LOC110121108, USP1, MIR4711, TTC22, LOC112590815, LOC110121125, MIR3116-2, CPT2, LHX8, MIR1273F, LOC112590820, LINC02238, PODN, MROH7, TACSTD2, LRP8, LOC112590818, LOC110120600, FYB2, OMA1, DIRAS3, LINC01767, LINC01788, LOC122056884, SSBP3, YIPF1, LOC107983962, ERICH3, DEPDC1-AS1, C8B, MIR101-1, LINC01360, LOC110120763, SGIP1, LOC122056894, LOC112590817, MIR4422, TTC4, LOC121725024, DOCK7, GLIS1, ASB17, DAB1, CTH, LOC111501769, LOC110121126, TMEM59, ZRANB2, ATG4C, FGGY, LOC110121050, FOXD3-AS1, LINC01358, ANGPTL3, LOC110120599, SNORD45C, MIR1273G, LOC122056893, LOC110121161, LOC122056896, LINC01753, LOC121725033, LOC122094847, LINC00466, L1TD1, MIR4781, LOC121725027, PDE4B, LRRC42, GPX7
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058079
2.
GRCh37:
Chr1:59285277-86564294
GRCh38:
Chr1:58819605-86098611
SNORD45C, SPATA1, SRSF11, SSX2IP, ST6GALNAC3, ST6GALNAC5, SYDE2, TM2D1, TNNI3K, TTLL7, TYW3, UBE2U, USP1, USP33, WLS, ZNHIT6, ZRANB2, ZRANB2-AS1, ZRANB2-DT, ZZZ3, ACADM, ADGRL2, ADGRL4, AK4, AK5, ALG6, ANGPTL3, ANKRD13C, ASB17, ATG4C, BCL10, BCL10-AS1, C1orf141, C1orf52, C1orf87, CACHD1, CCN1, COL24A1, CRYZ, CTBS, CTH, CYP2J2, DDAH1, DEPDC1, DEPDC1-AS1, DIRAS3, DLEU2L, DNAI3, DNAI4, DNAJB4, DNAJC6, DNASE2B, DOCK7, DYNLT5, EFCAB7, ERICH3, ERICH3-AS1, FGGY, FOXD3, FOXD3-AS1, FPGT, FPGT-TNNI3K, FUBP1, GADD45A, GIPC2, GNG12, GNG12-AS1, GNG5, HHLA3, HHLA3-AS1, HOOK1, HSD52, IFI44, IFI44L, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, KANK4, L1TD1, LEPR, LEPROT, LHX8, LINC00466, LINC01135, LINC01358, LINC01359, LINC01360, LINC01361, LINC01362, LINC01461, LINC01555, LINC01707, LINC01712, LINC01725, LINC01739, LINC01748, LINC01758, LINC01781, LINC01788, LINC02238, LINC02567, LINC02777, LINC02791, LINC02796, LOC101926944, LOC101926964, LOC101927342, LOC101927434, LOC101927560, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120683, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC110121238, LOC111501769, LOC112590812, LOC112590814, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC112590819, LOC112590820, LOC115801429, LOC115801430, LOC120893140, LOC120893141, LOC120893142, LOC120893143, LOC120893144, LOC121725026, LOC121725027, LOC121725028, LOC121725029, LOC121725030, LOC121725032, LOC121725033, LOC121725034, LOC121725035, LOC121725036, LOC121725037, LOC122056891, LOC122056892, LOC122056893, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC122094852, LOC122094853, LOC122094854, LOC122094855, LOC122094856, LOC122094857, LPAR3, LRRC40, LRRC53, LRRC7, LRRC7-AS1, LRRIQ3, MCOLN2, MCOLN3, MGC27382, MIER1, MIGA1, MIR101-1, MIR12132, MIR1262, MIR186, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4423, MIR4711, MIR4794, MIR6068, MIR7156, MSH4, NEGR1, NEGR1-IT1, NEXN, NEXN-AS1, NFIA, NFIA-AS1, NFIA-AS2, PATJ, PDE4B, PDE4B-AS1, PGM1, PIGK, PRKACB, PTGER3, PTGFR, RABGGTB, RAVER2, ROR1, ROR1-AS1, RPE65, RPF1, SAMD13, SERBP1, SGIP1, SLC35D1, SLC44A5, SNORD45A, SNORD45B
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000147765
3.
GRCh37:
Chr1:60098172-77196562
GRCh38:
Chr1:59632500-76730877
LEPR, DNAI4, LOC112590815, TYW3, LOC112590814, ALG6, WLS, INSL5, SLC44A5, RAVER2, LOC110121050, LOC111501769, KANK4, AK4, LOC122094843, LOC112590820, MIR3116-1, ACADM, PATJ, LOC121725030, ROR1, LOC121725029, LRRC40, GNG12, EFCAB7, ERICH3, CYP2J2, DEPDC1-AS1, LINC01748, ANKRD13C, ASB17, LOC122056896, JAK1, ERICH3-AS1, LOC121725028, UBE2U, HOOK1, LOC115801430, NFIA-AS1, RABGGTB, NEGR1, LOC122094849, LOC122056895, ATG4C, MIR3117, SERBP1, ZRANB2-AS1, DOCK7, PGM1, LRRC7-AS1, CTH, LOC122056898, LINC01739, LOC122094845, LOC101926944, DEPDC1, MIR186, LOC122094847, CRYZ, LOC122094846, GADD45A, CACHD1, LINC01359, LOC112590818, FPGT-TNNI3K, HHLA3, FPGT, IL23R, DIRAS3, NFIA, MIR4711, PDE4B, LHX8, LOC122094851, SNORD45A, MIR6068, LOC122094841, LOC121725032, ROR1-AS1, LOC122094853, ITGB3BP, C1orf141, MIR3116-2, FOXD3, PTGER3, LRRC7, DNAJC6, LOC121725026, SRSF11, LOC110120763, DLEU2L, LOC101927342, PDE4B-AS1, LINC02238, HHLA3-AS1, LOC110120600, TM2D1, FOXD3-AS1, NEGR1-IT1, C1orf87, IL12RB2, RPE65, LOC122094850, LOC112590819, L1TD1, SLC35D1, LOC110120599, LRRIQ3, LINC01360, MIR101-1, LOC101926964, LOC122094840, LOC110120659, LOC122094842, LINC01707, SGIP1, MIR12132, LOC112590817, LINC00466, MIR4794, LOC112590816, LOC122094848, LOC115801429, GNG12-AS1, LOC107983962, MIR1262, LOC120893141, LOC122094844, LOC122056894, LOC110121124, LINC02796, LINC01758, MSH4, LOC122094839, ST6GALNAC3, LEPROT, SNORD45C, USP1, MIR3671, ANGPTL3, LOC122056897, LINC01788, TNNI3K, NFIA-AS2, SNORD45B, LRRC53, FGGY, MIER1, LOC121725027, DYNLT5, ZRANB2-DT, LINC02791, ZRANB2, LOC110121108
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059971
4.
GRCh37:
Chr1:67330808-77589066
GRCh38:
Chr1:66865125-77123381
See casesPathogenic
(Mar 26, 2013)
no assertion criteria providedVCV000155062
5.
GRCh37:
Chr1:76007120-76540569
GRCh38:
Chr1:75541435-76074884
SNORD45C, RABGGTB, SNORD45B, LOC101927342, ASB17, SLC44A5, ACADM, SNORD45A, ST6GALNAC3, MSH4Medium-chain acyl-coenzyme A dehydrogenase deficiencyPathogenic
(Jun 2, 2018)
criteria provided, single submitterVCV000584254
6.
GRCh37:
Chr1:76189745
GRCh38:
Chr1:75724060
ACADM, SLC44A5not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000682747
7.
GRCh37:
Chr1:76189946
GRCh38:
Chr1:75724261
ACADM, SLC44A5not providedBenign
(Jun 23, 2018)
criteria provided, single submitterVCV001221272
8.
GRCh37:
Chr1:76190037
GRCh38:
Chr1:75724352
ACADMnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000674048
9.
GRCh37:
Chr1:76190070
GRCh38:
Chr1:75724385
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000298057
10.
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
11.
GRCh37:
Chr1:76190098
GRCh38:
Chr1:75724413
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000298059
12.
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
13.
GRCh37:
Chr1:76190131
GRCh38:
Chr1:75724446
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000298061
14.
GRCh37:
Chr1:76190169
GRCh38:
Chr1:75724484
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000298062
15.
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
16.
GRCh37:
Chr1:76190304
GRCh38:
Chr1:75724619
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000298064
17.
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
18.
GRCh37:
Chr1:76190381
GRCh38:
Chr1:75724696
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000298066
19.
GRCh37:
Chr1:76190395
GRCh38:
Chr1:75724710
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000876394
20.
GRCh37:
Chr1:76190423
GRCh38:
Chr1:75724738
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000298067
21.
GRCh37:
Chr1:76190439
GRCh38:
Chr1:75724754
ACADMnot specified, Medium-chain acyl-coenzyme A dehydrogenase deficiencyBenign
(Nov 15, 2018)
criteria provided, multiple submitters, no conflictsVCV000136258
22.
GRCh37:
Chr1:76190444
GRCh38:
Chr1:75724759
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000298068
23.
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
24.
GRCh37:
Chr1:76190467-76190478
GRCh38:
Chr1:75724782-75724793
ACADMM1fsMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely pathogenic
(Sep 6, 2019)
criteria provided, single submitterVCV000966945
25.
GRCh37:
Chr1:76190467-76190478
GRCh38:
Chr1:75724782-75724793
ACADMM1fsMedium-chain acyl-coenzyme A dehydrogenase deficiencyPathogenic
(Feb 20, 2015)
criteria provided, single submitterVCV000226085
26.
GRCh37:
Chr1:76190473
GRCh38:
Chr1:75724788
ACADMM1VMedium-chain acyl-coenzyme A dehydrogenase deficiency, not providedLikely pathogenic
(Apr 20, 2016)
criteria provided, single submitterVCV000370802
27.
GRCh37:
Chr1:76190475
GRCh38:
Chr1:75724790
ACADMM1IMedium-chain acyl-coenzyme A dehydrogenase deficiencyPathogenic/Likely pathogenic
(Sep 16, 2020)
criteria provided, multiple submitters, no conflictsVCV000555765
28.
GRCh37:
Chr1:76190478
GRCh38:
Chr1:75724793
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(May 6, 2020)
criteria provided, single submitterVCV001144965
29.
GRCh37:
Chr1:76190478
GRCh38:
Chr1:75724793
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Apr 22, 2020)
criteria provided, single submitterVCV001125582
30.
GRCh37:
Chr1:76190484
GRCh38:
Chr1:75724799
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Dec 3, 2019)
criteria provided, single submitterVCV001090807
31.
GRCh37:
Chr1:76190487
GRCh38:
Chr1:75724802
ACADMF5Lnot providedUncertain significance
(Jul 18, 2017)
criteria provided, single submitterVCV000617949
32.
GRCh37:
Chr1:76190493
GRCh38:
Chr1:75724808
ACADMM1VMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Jul 1, 2020)
criteria provided, single submitterVCV000799225
33.
GRCh37:
Chr1:76190504
GRCh38:
Chr1:75724819
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely pathogenic
(Mar 8, 2017)
criteria provided, single submitterVCV000551031
34.
GRCh37:
Chr1:76190510
GRCh38:
Chr1:75724825
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Oct 9, 2020)
criteria provided, single submitterVCV001143007
35.
GRCh37:
Chr1:76190511
GRCh38:
Chr1:75724826
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Nov 16, 2020)
criteria provided, single submitterVCV001080657
36.
GRCh37:
Chr1:76190511
GRCh38:
Chr1:75724826
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Dec 2, 2020)
criteria provided, single submitterVCV001077645
37.
GRCh37:
Chr1:76190512
GRCh38:
Chr1:75724827
ACADMnot specifiedLikely benign
(Jan 25, 2017)
criteria provided, single submitterVCV000506817
38.
GRCh37:
Chr1:76190568
GRCh38:
Chr1:75724883
ACADMnot providedBenign
(Jun 23, 2018)
criteria provided, single submitterVCV001292156
39.
GRCh37:
Chr1:76190569
GRCh38:
Chr1:75724884
ACADMnot providedBenign
(Jun 16, 2018)
criteria provided, single submitterVCV000676188
40.
GRCh37:
Chr1:76190690
GRCh38:
Chr1:75725005
ACADMnot providedBenign
(Jun 29, 2018)
criteria provided, single submitterVCV001245182
41.
GRCh37:
Chr1:76194013
GRCh38:
Chr1:75728328
ACADMnot provided, Medium-chain acyl-coenzyme A dehydrogenase deficiencyBenign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000226074
42.
GRCh37:
Chr1:76194049
GRCh38:
Chr1:75728364
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyBenign
(Feb 20, 2015)
criteria provided, single submitterVCV000226080
43.
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
44.
GRCh37:
Chr1:76194082
GRCh38:
Chr1:75728397
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Feb 6, 2020)
criteria provided, single submitterVCV001151258
45.
GRCh37:
Chr1:76194088
GRCh38:
Chr1:75728403
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Oct 26, 2019)
criteria provided, single submitterVCV000751349
46.
GRCh37:
Chr1:76194089
GRCh38:
Chr1:75728404
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Feb 11, 2020)
criteria provided, single submitterVCV001095518
47.
GRCh37:
Chr1:76194102
GRCh38:
Chr1:75728417
ACADMS20fs, S16fsMedium-chain acyl-coenzyme A dehydrogenase deficiencyPathogenic
(Nov 20, 2017)
criteria provided, single submitterVCV000528454
48.
GRCh37:
Chr1:76194105
GRCh38:
Chr1:75728420
ACADMR17H, R21HMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Feb 20, 2015)
criteria provided, single submitterVCV000226078
49.
GRCh37:
Chr1:76194112
GRCh38:
Chr1:75728427
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyConflicting interpretations of pathogenicity
(Dec 7, 2020)
criteria provided, conflicting interpretationsVCV000298069
50.
GRCh37:
Chr1:76194116
GRCh38:
Chr1:75728431
ACADMnot specifiedLikely benign
(Feb 23, 2018)
criteria provided, single submitterVCV000515346
51.
GRCh37:
Chr1:76194122
GRCh38:
Chr1:75728437
ACADMQ27*, Q23*Medium-chain acyl-coenzyme A dehydrogenase deficiencyPathogenic
(Nov 9, 2018)
criteria provided, single submitterVCV000665907
52.
GRCh37:
Chr1:76194129-76194130
GRCh38:
Chr1:75728444-75728445
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(May 8, 2017)
criteria provided, single submitterVCV000551808
53.
GRCh37:
Chr1:76194140
GRCh38:
Chr1:75728455
ACADMR29*, R33*Medium-chain acyl-coenzyme A dehydrogenase deficiencyPathogenic
(Feb 21, 2019)
criteria provided, single submitterVCV000928650
54.
GRCh37:
Chr1:76194141
GRCh38:
Chr1:75728456
ACADMR29L, R33LMedium-chain acyl-coenzyme A dehydrogenase deficiencyPathogenic
(May 13, 2020)
criteria provided, single submitterVCV000203537
55.
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
56.
GRCh37:
Chr1:76194154
GRCh38:
Chr1:75728469
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Jun 10, 2020)
criteria provided, single submitterVCV001100912
57.
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
58.
GRCh37:
Chr1:76194159
GRCh38:
Chr1:75728474
ACADML39*, L35*Medium-chain acyl-coenzyme A dehydrogenase deficiencyPathogenic
(Nov 5, 2019)
criteria provided, single submitterVCV000964031
59.
GRCh37:
Chr1:76194167
GRCh38:
Chr1:75728482
ACADMS38R, S42Rnot providedUncertain significance
(Jan 18, 2020)
criteria provided, single submitterVCV001311433
60.
GRCh37:
Chr1:76194173
GRCh38:
Chr1:75728488
ACADME40Q, E44Qnot providedUncertain significance
(Oct 1, 2015)
criteria provided, single submitterVCV000092255
61.
GRCh37:
Chr1:76194174
GRCh38:
Chr1:75728489
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely pathogenic
(Mar 1, 2016)
criteria provided, single submitterVCV000370561
62.
GRCh37:
Chr1:76194183
GRCh38:
Chr1:75728498
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Oct 14, 2020)
criteria provided, single submitterVCV000737014
63.
GRCh37:
Chr1:76194191
GRCh38:
Chr1:75728506
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyBenign/Likely benign
(Nov 16, 2017)
criteria provided, multiple submitters, no conflictsVCV000226101
64.
GRCh37:
Chr1:76194230
GRCh38:
Chr1:75728545
ACADMnot provided, Medium-chain acyl-coenzyme A dehydrogenase deficiencyBenign
(Jul 14, 2021)
criteria provided, multiple submitters, no conflictsVCV000226050
65.
GRCh37:
Chr1:76194235
GRCh38:
Chr1:75728550
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyBenign
(Feb 20, 2015)
criteria provided, single submitterVCV000226051
66.
GRCh37:
Chr1:76194287
GRCh38:
Chr1:75728602
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyBenign
(Feb 20, 2015)
criteria provided, single submitterVCV000226090
67.
GRCh37:
Chr1:76194306
GRCh38:
Chr1:75728621
ACADMnot providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001261087
68.
GRCh37:
Chr1:76198033
GRCh38:
Chr1:75732348
ACADMnot providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000682748
69.
GRCh37:
Chr1:76198246
GRCh38:
Chr1:75732561
ACADMnot providedBenign
(Jul 21, 2018)
criteria provided, single submitterVCV001227424
70.
GRCh37:
Chr1:76198309
GRCh38:
Chr1:75732624
ACADMnot specified, Medium-chain acyl-coenzyme A dehydrogenase deficiencyBenign
(Dec 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000092256
71.
GRCh37:
Chr1:76198328
GRCh38:
Chr1:75732643
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely pathogenic
(Mar 29, 2020)
criteria provided, single submitterVCV000842838
72.
GRCh37:
Chr1:76198330
GRCh38:
Chr1:75732645
ACADMnot providedLikely benign
(Apr 3, 2018)
criteria provided, single submitterVCV000740709
73.
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
74.
GRCh37:
Chr1:76198336
GRCh38:
Chr1:75732651
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Aug 10, 2020)
criteria provided, single submitterVCV000799064
75.
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
76.
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
77.
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
78.
GRCh37:
Chr1:76198349
GRCh38:
Chr1:75732664
ACADME11K, E47K, E51KMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Jul 14, 2021)
criteria provided, single submitterVCV001195910
79.
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
80.
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
81.
GRCh37:
Chr1:76198373
GRCh38:
Chr1:75732688
ACADMF55fs, F19fs, F59fsMedium-chain acyl-coenzyme A dehydrogenase deficiencyPathogenic
(Jan 26, 2018)
criteria provided, single submitterVCV000576994
82.
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
83.
GRCh37:
Chr1:76198381
GRCh38:
Chr1:75732696
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Dec 4, 2020)
criteria provided, single submitterVCV001094082
84.
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
85.
GRCh37:
Chr1:76198402
GRCh38:
Chr1:75732717
ACADMnot providedLikely benign
(Jul 20, 2018)
criteria provided, single submitterVCV000764742
86.
GRCh37:
Chr1:76198405
GRCh38:
Chr1:75732720
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Nov 10, 2020)
criteria provided, single submitterVCV000697502
87.
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
88.
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
89.
GRCh37:
Chr1:76198413
GRCh38:
Chr1:75732728
ACADMD32fs, D68fs, D72fsMedium-chain acyl-coenzyme A dehydrogenase deficiencyPathogenic
(Feb 21, 2020)
criteria provided, single submitterVCV001068759
90.
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
91.
GRCh37:
Chr1:76198422
GRCh38:
Chr1:75732737
ACADMG71D, G75D, G35DMedium-chain acyl-coenzyme A dehydrogenase deficiencyUncertain significance
(Apr 10, 2018)
criteria provided, single submitterVCV000557685
92.
GRCh37:
Chr1:76198423
GRCh38:
Chr1:75732738
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Nov 16, 2019)
criteria provided, single submitterVCV001106790
93.
GRCh37:
Chr1:76198427
GRCh38:
Chr1:75732742
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely pathogenic
(Apr 21, 2016)
criteria provided, single submitterVCV000370830
94.
GRCh37:
Chr1:76198428
GRCh38:
Chr1:75732743
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyPathogenic
(Dec 26, 2018)
criteria provided, single submitterVCV000811864
95.
GRCh37:
Chr1:76198428
GRCh38:
Chr1:75732743
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiency, not providedPathogenic
(Jul 9, 2020)
criteria provided, multiple submitters, no conflictsVCV000092260
96.
GRCh37:
Chr1:76198431
GRCh38:
Chr1:75732746
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely pathogenic
(Feb 26, 2020)
criteria provided, single submitterVCV001066634
97.
GRCh37:
Chr1:76198433
GRCh38:
Chr1:75732748
ACADMnot providedLikely benign
(May 19, 2018)
criteria provided, single submitterVCV000743310
98.
GRCh37:
Chr1:76198436
GRCh38:
Chr1:75732751
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Mar 23, 2020)
criteria provided, single submitterVCV001079799
99.
GRCh37:
Chr1:76198436
GRCh38:
Chr1:75732751
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiency, not specifiedBenign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000092259
100.
GRCh37:
Chr1:76198528
GRCh38:
Chr1:75732843
ACADMMedium-chain acyl-coenzyme A dehydrogenase deficiencyLikely benign
(Aug 29, 2020)
criteria provided, single submitterVCV001097174
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