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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr11:90819827-109466308
GRCh38:
Chr11:91086659-109595582
See casesPathogenic
(Jan 3, 2012)
no assertion criteria providedVCV000148976
2.
GRCh37:
Chr11:100219331-134910140
GRCh38:
Chr11:100348599-135040246
TMPRSS4, LOC111982892, USP2-AS1, OR6M1, ALG9, KCNJ5, PRDM10-DT, BACE1, C11orf52, CASP4, OR10S1, HSPA8, TAGLN, TREH, LINC02727, LOC112042784, LOC102723838, SIK3, MIR34B, MIR4693, TRPC6, LOC111718489, CASP12, MPZL2, LOC101929427, TMEM133, KCNJ1, SCN2B, LOC100652768, MIR3920, PPP2R1B, RDX, LOC113939918, HSPB2, ZBTB44-DT, THYN1, LOC101928940, FXYD6, OR10G4, PGR-AS1, LOC108281156, SIAE, ETS1-AS1, ELMOD1, OR10G6, GSEC, CWF19L2, ZBTB44, ACRV1, TMEM123, LOC112042779, LINC02763, MSANTD2, LOC112042778, IL10RA, ETS1, LINC02697, LOC121392953, LOC110121415, HYLS1, ADAMTS8, CNTN5, HEPACAM, C11orf1, FXYD2, LOC111465015, ARHGEF12, LOC101928535, LOC121392952, PRDM10, AASDHPPT, LOC112061823, SNORD153, SLN, MIR100, TIRAP, APOA1, TP53AIP1, LOC100507548, DCUN1D5, HTR3A, NLRX1, NTM-AS1, STT3A, LOC649133, LOC112042777, OR8B12, OR8G1, NXPE1, MMP20, MIR8052, HSPB2-C11orf52, FEZ1, LINC02725, RPS25, LOC121392944, OR10G9, LINC02873, LOC101929473, MMP27, PATE1, MIR3656, TLCD5, MMP10, DPAGT1, LINC02550, DDX10, SIK2, C1QTNF5, FOXRED1, LINC02719, CXCR5, KCNJ5-AS1, TMPRSS5, LOC121392939, H2AX, ABCG4, LINC02551, LOC100132686, LOC105369535, MSANTD2-AS1, PATE3, LOC107984399, DLAT, CDON, KMT2A, TTC36, LOC121392938, CEP126, NKAPD1, SNORD14E, BACE1-AS, OAF, OR8D1, TBCEL-TECTA, TMEM218, ST3GAL4, RNF26, BTG4, BLID, OR8G5, MIR10526, ST14, GRIK4, LOC100128088, PLET1, TMPRSS13, NNMT, LOC111464985, LOC399975, GUCY1A2, RAB39A, APOC3, LOC116225302, TMEM45B, PKNOX2-DT, PKNOX2, LINC02706, MIR3167, ACAT1, YAP1, LOC108165613, TRIM29, LINC02098, C11orf87, DDX25, ARCN1, MMP13, TBRG1, LOC121392942, POGLUT3, ANKK1, LOC106865368, LINC02743, ROBO4, OR8D4, MIR6716, LOC121392949, APLP2, B3GAT1-DT, B3GAT1, LINC02732, OR8B4, BIRC2, NECTIN1, IGSF9B, GRIA4, LOC100128242, LOC121392947, SRPRA, PGR, GRAMD1B, MMP12, FXYD6-FXYD2, SNORD13I, ZNF202, LOC105369509, MIR4301, LOC101929653, KBTBD3, MMP1, CD3G, CUL5, LINC02731, LOC112067710, CD3E, ANGPTL5, JAML, LINC01395, ZC3H12C, ZBTB16, CASP1, OR8B3, LOC121392950, CCDC15, LOC118567325, LINC02703, LOC121392945, MSANTD4, CENATAC-DT, FOXR1, CARD16, BSX, DDX6, PCSK7, LINC02702, LOC101929208, OR8A1, LOC111982889, TMEM225, NCAPD3, REXO2, CBL, LOC728196, ATP5MG, BUD13, LOC121392937, LOC112042785, VSIG2, LOC110121342, SMIM35, MIR4492, LOC105369532, DYNC2H1, ARHGAP42-AS1, USP28, NXPE2, HINFP, LINC02714, PATE2, RPUSD4, NCAM1-AS1, LOC121392936, USP2, LOC110120944, PANX3, SNORD14D, MMP7, BARX2, MMP8, OR6T1, PIH1D2, PATE4, CFAP300, LOC112061820, KIRREL3, LOC101929538, C11orf53, ALKBH8, POU2F3, EXPH5, OR8D2, NRGN, CHEK1, EI24, BIRC3, LOC112061819, ACAD8, LINC02712, LOC110120853, ATM, ESAM-AS1, ESAM, MIR4493, LOC121392951, OR6X1, POU2AF1, CARD17, APOA1-AS, LINC02744, DIXDC1, HYOU1, MIR125B1, LOC114803469, LOC111429625, LINC02552, PTS, SNORD14C, MIR7641-1, LOC103611081, SCN4B, SNORD150, LOC113939919, ARHGAP20, MIR6756, CD3D, SC5D, OR8B8, PUS3, RNF214, LOC121392948, LOC112042780, PHLDB1, CRTAM, TEX12, VPS11, LOC643923, OPCML, MMP3, FDX1, LOC121392943, LAYN, LOC111413012, SENCR, MFRP, GLB1L2, JAM3, FAM118B, JHY, CEP164, NCAM1, TMEM25, SPA17, CLMP, NPAT, LOC111982893, MIR4697HG, SPATA19, LINC02764, OR10G8, CRYAB, BCL9L, LOC100132078, UBE4A, LOC116225305, COLCA1, BCO2, ROBO3, LOC121392941, FRA11B, LOC116225306, C11orf65, C2CD2L, PDGFD, ZPR1, NTM, CLDN25, LOC116225303, PAFAH1B2, LOC112067711, C11orf71, TRAPPC4, TBCEL, MIR34C, LOC112042783, TTC12, LOC100131626, LINC00900, DDI1, FDXACB1, LOC105369507, ZW10, CCDC153, SDHD, SLC37A4, DCPS, MIR4491, MPZL3, LINC02762, HEPN1, LOC403312, GLB1L3, ADAMTS15, TECTA, NECTIN1-DT, HTR3B, CADM1, LOC112061821, TTC36-AS1, OR10D3, KIRREL3-AS2, RBM7, CENATAC, KIRREL3-AS3, SNX19, NXPE4, LOC101928985, LOC121392954, NECTIN1-AS1, LOC101928847, LOC110121460, TMEM123-DT, LOC112042786, LOC111982894, LOC111365219, UPK2, ARHGAP42, THY1, SLC37A2, OR4D5, LOC116225304, LOC108353823, COLCA2, DSCAML1, SORL1, LOC112061822, VWA5A, MCAM, UBASH3B, CARD18, VPS26B, STT3A-AS1, LOC121392940, LOC116225307, OR8G3P, SCN3B, LINC02715, LOC110121418, MIR100HG, IFT46, SIDT2, APOA4, LOC121392946, MIR4697, OR8B2, LOC101929227, LOC108491825, ARHGAP32, HOATZ, IL18, NTM-IT, SLC35F2, PDZD3, NFRKB, HMBS, OR10G7, APOA5, MIR6090, LOC111982891, TRK-TTT2-1, SORL1-AS1, DRD2, VSIG10L2, MIRLET7A2, FLI1, LOC108165612, CASP5, TIMM8B
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059772
3.
GRCh37:
Chr11:107349817-108093259
GRCh38:
Chr11:107479091-108222532
See casesPathogenic
(Feb 5, 2013)
no assertion criteria providedVCV000147281
4.
GRCh37:
Chr11:107991928-107991929
GRCh38:
Chr11:108121201-108121202
ACAT1not providedBenign
(Jun 18, 2021)
criteria provided, single submitterVCV001272094
5.
GRCh37:
Chr11:107992264
GRCh38:
Chr11:108121537
ACAT1Deficiency of acetyl-CoA acetyltransferaseUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000302193
6.
GRCh37:
Chr11:107992306
GRCh38:
Chr11:108121579
ACAT1Deficiency of acetyl-CoA acetyltransferaseBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000302194
7.
GRCh37:
Chr11:107992312
GRCh38:
Chr11:108121585
ACAT1Deficiency of acetyl-CoA acetyltransferaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000302196
8.
GRCh37:
Chr11:107992312
GRCh38:
Chr11:108121585
ACAT1not provided, Deficiency of acetyl-CoA acetyltransferaseBenign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000302195
9.
GRCh37:
Chr11:107992319
GRCh38:
Chr11:108121592
ACAT1Deficiency of acetyl-CoA acetyltransferase, not specifiedBenign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflictsVCV000166648
10.
GRCh37:
Chr11:107992325
GRCh38:
Chr11:108121598
ACAT1not provided, Deficiency of acetyl-CoA acetyltransferase, not specified
Benign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000092294
11.
GRCh37:
Chr11:107992329
GRCh38:
Chr11:108121602
ACAT1Deficiency of acetyl-CoA acetyltransferaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000880333
12.
GRCh37:
Chr11:107992334
GRCh38:
Chr11:108121607
ACAT1M1VDeficiency of acetyl-CoA acetyltransferasePathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666460
13.
GRCh37:
Chr11:107992335
GRCh38:
Chr11:108121608
ACAT1M1TDeficiency of acetyl-CoA acetyltransferasePathogenic
(Sep 13, 2020)
criteria provided, multiple submitters, no conflictsVCV000666461
14.
GRCh37:
Chr11:107992335
GRCh38:
Chr11:108121608
ACAT1M1KDeficiency of acetyl-CoA acetyltransferasePathogenic
(May 5, 2019)
criteria provided, single submitterVCV000002838
15.
GRCh37:
Chr11:107992338
GRCh38:
Chr11:108121611
ACAT1A2VDeficiency of acetyl-CoA acetyltransferaseUncertain significance
(Oct 5, 2020)
criteria provided, single submitterVCV001034848
16.
GRCh37:
Chr11:107992343
GRCh38:
Chr11:108121616
ACAT1L4VDeficiency of acetyl-CoA acetyltransferaseUncertain significance
(Jul 14, 2021)
criteria provided, single submitterVCV001195913
17.
GRCh37:
Chr11:107992346
GRCh38:
Chr11:108121619
ACAT1A5PDeficiency of acetyl-CoA acetyltransferase, not specified, not provided
Benign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000092295
18.
GRCh37:
Chr11:107992348
GRCh38:
Chr11:108121621
ACAT1Deficiency of acetyl-CoA acetyltransferaseUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000302197
19.
GRCh37:
Chr11:107992355
GRCh38:
Chr11:108121628
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Nov 25, 2020)
criteria provided, single submitterVCV001117423
20.
GRCh37:
Chr11:107992362
GRCh38:
Chr11:108121635
ACAT1S10NDeficiency of acetyl-CoA acetyltransferaseUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000302198
21.
GRCh37:
Chr11:107992367
GRCh38:
Chr11:108121640
ACAT1A12TDeficiency of acetyl-CoA acetyltransferaseUncertain significance
(Jan 31, 2019)
criteria provided, single submitterVCV000968668
22.
GRCh37:
Chr11:107992369
GRCh38:
Chr11:108121642
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Aug 5, 2020)
criteria provided, single submitterVCV001140212
23.
GRCh37:
Chr11:107992369
GRCh38:
Chr11:108121642
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Aug 14, 2020)
criteria provided, single submitterVCV001090301
24.
GRCh37:
Chr11:107992375
GRCh38:
Chr11:108121648
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Mar 31, 2020)
criteria provided, single submitterVCV001102395
25.
GRCh37:
Chr11:107992380-107992381
GRCh38:
Chr11:108121653-108121654
ACAT1L18fsDeficiency of acetyl-CoA acetyltransferasePathogenic
(Sep 23, 2020)
criteria provided, multiple submitters, no conflictsVCV000633029
26.
GRCh37:
Chr11:107992393
GRCh38:
Chr11:108121666
ACAT1not provided, Deficiency of acetyl-CoA acetyltransferaseConflicting interpretations of pathogenicity
(Nov 26, 2020)
criteria provided, conflicting interpretationsVCV000193031
27.
GRCh37:
Chr11:107992395-107992413
GRCh38:
Chr11:108121668-108121686
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely pathogenic
(May 7, 2019)
criteria provided, single submitterVCV000842676
28.
GRCh37:
Chr11:107992404
GRCh38:
Chr11:108121677
ACAT1Q24PDeficiency of acetyl-CoA acetyltransferaseUncertain significance
(Apr 11, 2020)
no assertion criteria providedVCV000990344
29.
GRCh37:
Chr11:107992415
GRCh38:
Chr11:108121688
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Nov 5, 2019)
criteria provided, single submitterVCV001120480
30.
GRCh37:
Chr11:108002445
GRCh38:
Chr11:108131718
ACAT1not providedBenign
(Aug 22, 2019)
criteria provided, single submitterVCV001237609
31.
GRCh37:
Chr11:108002640
GRCh38:
Chr11:108131913
ACAT1R27*Deficiency of acetyl-CoA acetyltransferasePathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666462
32.
GRCh37:
Chr11:108002642-108002643
GRCh38:
Chr11:108131915-108131916
ACAT1Y28fsDeficiency of acetyl-CoA acetyltransferasePathogenic
(Jun 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000666463
33.
GRCh37:
Chr11:108002644-108002645
GRCh38:
Chr11:108131917-108131918
ACAT1E30fsDeficiency of acetyl-CoA acetyltransferasePathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666464
34.
GRCh37:
Chr11:108002645
GRCh38:
Chr11:108131918
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Nov 3, 2020)
criteria provided, single submitterVCV001123610
35.
GRCh37:
Chr11:108002646
GRCh38:
Chr11:108131919
ACAT1V29Lnot providedUncertain significance
(Feb 18, 2016)
criteria provided, single submitterVCV000384097
36.
GRCh37:
Chr11:108002652
GRCh38:
Chr11:108131925
ACAT1R31Wnot providedUncertain significance
(Jun 6, 2013)
criteria provided, single submitterVCV000092300
37.
GRCh37:
Chr11:108002660
GRCh38:
Chr11:108131933
ACAT1Y33*Deficiency of acetyl-CoA acetyltransferasePathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666465
38.
GRCh37:
Chr11:108003055-108012264
GRCh38:
Chr11:108132328-108141537
ACAT1Deficiency of acetyl-CoA acetyltransferasePathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666536
39.
GRCh37:
Chr11:108004534
GRCh38:
Chr11:108133807
ACAT1Deficiency of acetyl-CoA acetyltransferasePathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666467
40.
GRCh37:
Chr11:108004544
GRCh38:
Chr11:108133817
ACAT1Deficiency of acetyl-CoA acetyltransferaseUncertain significance
(May 5, 2019)
criteria provided, single submitterVCV000666466
41.
GRCh37:
Chr11:108004552
GRCh38:
Chr11:108133825
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Mar 17, 2020)
criteria provided, single submitterVCV001126463
42.
GRCh37:
Chr11:108004557
GRCh38:
Chr11:108133830
ACAT1I44TDeficiency of acetyl-CoA acetyltransferaseLikely pathogenic
(Mar 6, 2021)
criteria provided, single submitterVCV001172772
43.
GRCh37:
Chr11:108004564
GRCh38:
Chr11:108133837
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Oct 20, 2020)
criteria provided, single submitterVCV001136849
44.
GRCh37:
Chr11:108004566
GRCh38:
Chr11:108133839
ACAT1A47VDeficiency of acetyl-CoA acetyltransferaseUncertain significance
(Nov 9, 2019)
criteria provided, single submitterVCV000958644
45.
GRCh37:
Chr11:108004575
GRCh38:
Chr11:108133848
ACAT1T50fsDeficiency of acetyl-CoA acetyltransferasePathogenic
(May 5, 2019)
criteria provided, single submitterVCV000208341
46.
GRCh37:
Chr11:108004581
GRCh38:
Chr11:108133854
ACAT1I52TDeficiency of acetyl-CoA acetyltransferaseUncertain significance
(Nov 8, 2019)
criteria provided, multiple submitters, no conflictsVCV000877555
47.
GRCh37:
Chr11:108004589-108004593
GRCh38:
Chr11:108133862-108133866
ACAT1Deficiency of acetyl-CoA acetyltransferaseConflicting interpretations of pathogenicity
(Dec 19, 2019)
criteria provided, conflicting interpretationsVCV000666468
48.
GRCh37:
Chr11:108004597
GRCh38:
Chr11:108133870
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Jun 21, 2020)
criteria provided, single submitterVCV000990345
49.
GRCh37:
Chr11:108004603
GRCh38:
Chr11:108133876
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Jun 20, 2020)
criteria provided, single submitterVCV001127766
50.
GRCh37:
Chr11:108004608-108004610
GRCh38:
Chr11:108133881-108133883
ACAT1L62delnot providedUncertain significance
(Nov 27, 2017)
criteria provided, single submitterVCV000618508
51.
GRCh37:
Chr11:108004618
GRCh38:
Chr11:108133891
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Jan 5, 2020)
criteria provided, single submitterVCV001117299
52.
GRCh37:
Chr11:108004629
GRCh38:
Chr11:108133902
ACAT1G68Vnot providedLikely pathogenic
(Mar 3, 2015)
criteria provided, single submitterVCV000196198
53.
GRCh37:
Chr11:108004644
GRCh38:
Chr11:108133917
ACAT1Q73PDeficiency of acetyl-CoA acetyltransferaseLikely pathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666469
54.
GRCh37:
Chr11:108004651
GRCh38:
Chr11:108133924
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Nov 10, 2020)
criteria provided, single submitterVCV001103428
55.
GRCh37:
Chr11:108004655
GRCh38:
Chr11:108133928
ACAT1E77KDeficiency of acetyl-CoA acetyltransferaseUncertain significance
(Jul 14, 2021)
criteria provided, single submitterVCV001195914
56.
GRCh37:
Chr11:108004655
GRCh38:
Chr11:108133928
ACAT1E77fsDeficiency of acetyl-CoA acetyltransferasePathogenic
(Jan 23, 2020)
criteria provided, single submitterVCV000942141
57.
GRCh37:
Chr11:108004656
GRCh38:
Chr11:108133929
ACAT1K78fsDeficiency of acetyl-CoA acetyltransferasePathogenic
(Jul 7, 2020)
criteria provided, single submitterVCV001073055
58.
GRCh37:
Chr11:108004672
GRCh38:
Chr11:108133945
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Jun 7, 2019)
criteria provided, single submitterVCV001086176
59.
GRCh37:
Chr11:108004681
GRCh38:
Chr11:108133954
ACAT1Deficiency of acetyl-CoA acetyltransferaseBenign
(Oct 30, 2020)
criteria provided, single submitterVCV001170067
60.
GRCh37:
Chr11:108004687
GRCh38:
Chr11:108133960
ACAT1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001263376
61.
GRCh37:
Chr11:108004798
GRCh38:
Chr11:108134071
ACAT1Deficiency of acetyl-CoA acetyltransferase, not providedBenign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV001177594
62.
GRCh37:
Chr11:108004928
GRCh38:
Chr11:108134201
ACAT1not providedBenign
(Jul 22, 2020)
criteria provided, single submitterVCV001292232
63.
GRCh37:
Chr11:108004940-108004941
GRCh38:
Chr11:108134213-108134214
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Feb 17, 2020)
criteria provided, single submitterVCV001103523
64.
GRCh37:
Chr11:108004940
GRCh38:
Chr11:108134213
ACAT1Deficiency of acetyl-CoA acetyltransferaseConflicting interpretations of pathogenicity
(Nov 27, 2020)
criteria provided, conflicting interpretationsVCV000732192
65.
GRCh37:
Chr11:108004941
GRCh38:
Chr11:108134214
ACAT1Deficiency of acetyl-CoA acetyltransferaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000877556
66.
GRCh37:
Chr11:108004957-108004959
GRCh38:
Chr11:108134230-108134232
ACAT1E85delDeficiency of acetyl-CoA acetyltransferaseConflicting interpretations of pathogenicity
(Dec 30, 2019)
criteria provided, conflicting interpretationsVCV000666470
67.
GRCh37:
Chr11:108004960
GRCh38:
Chr11:108134233
ACAT1E85fsDeficiency of acetyl-CoA acetyltransferasePathogenic
(Mar 6, 2021)
criteria provided, single submitterVCV001172774
68.
GRCh37:
Chr11:108004967-108004968
GRCh38:
Chr11:108134240-108134241
ACAT1E88fsDeficiency of acetyl-CoA acetyltransferasePathogenic
(Sep 10, 2020)
criteria provided, single submitterVCV001074893
69.
GRCh37:
Chr11:108004972
GRCh38:
Chr11:108134245
ACAT1E88ADeficiency of acetyl-CoA acetyltransferaseLikely pathogenic
(Mar 6, 2021)
criteria provided, single submitterVCV001172773
70.
GRCh37:
Chr11:108004973
GRCh38:
Chr11:108134246
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Feb 14, 2019)
criteria provided, single submitterVCV001140975
71.
GRCh37:
Chr11:108004976
GRCh38:
Chr11:108134249
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Oct 3, 2020)
criteria provided, single submitterVCV001128525
72.
GRCh37:
Chr11:108004976
GRCh38:
Chr11:108134249
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Oct 20, 2020)
criteria provided, single submitterVCV001114056
73.
GRCh37:
Chr11:108004983
GRCh38:
Chr11:108134256
ACAT1G92SDeficiency of acetyl-CoA acetyltransferaseUncertain significance
(Jan 9, 2019)
criteria provided, single submitterVCV000645647
74.
GRCh37:
Chr11:108004987
GRCh38:
Chr11:108134260
ACAT1N93SDeficiency of acetyl-CoA acetyltransferaseLikely pathogenic
(May 5, 2019)
criteria provided, single submitterVCV000002843
75.
GRCh37:
Chr11:108004995
GRCh38:
Chr11:108134268
ACAT1Q96*Deficiency of acetyl-CoA acetyltransferasePathogenic
(May 28, 2019)
criteria provided, multiple submitters, no conflictsVCV000666471
76.
GRCh37:
Chr11:108005000
GRCh38:
Chr11:108134273
ACAT1E5ADeficiency of acetyl-CoA acetyltransferaseLikely benign
(Sep 9, 2020)
criteria provided, single submitterVCV001149909
77.
GRCh37:
Chr11:108005000
GRCh38:
Chr11:108134273
ACAT1Deficiency of acetyl-CoA acetyltransferaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000302199
78.
GRCh37:
Chr11:108005008
GRCh38:
Chr11:108134281
ACAT1G100EDeficiency of acetyl-CoA acetyltransferaseUncertain significance
(May 5, 2019)
criteria provided, single submitterVCV000666472
79.
GRCh37:
Chr11:108005010
GRCh38:
Chr11:108134283
ACAT1Q101KDeficiency of acetyl-CoA acetyltransferaseUncertain significance
(May 5, 2019)
criteria provided, single submitterVCV000666473
80.
GRCh37:
Chr11:108005021
GRCh38:
Chr11:108134294
ACAT1Q12RDeficiency of acetyl-CoA acetyltransferaseLikely benign
(Apr 9, 2019)
criteria provided, single submitterVCV001159213
81.
GRCh37:
Chr11:108005034
GRCh38:
Chr11:108134307
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Sep 1, 2020)
criteria provided, single submitterVCV001144344
82.
GRCh37:
Chr11:108005039
GRCh38:
Chr11:108134312
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Mar 10, 2020)
criteria provided, single submitterVCV001135016
83.
GRCh37:
Chr11:108005044
GRCh38:
Chr11:108134317
ACAT1Deficiency of acetyl-CoA acetyltransferasePathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666474
84.
GRCh37:
Chr11:108005051
GRCh38:
Chr11:108134324
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Oct 5, 2019)
criteria provided, single submitterVCV001152919
85.
GRCh37:
Chr11:108005215
GRCh38:
Chr11:108134488
ACAT1Deficiency of acetyl-CoA acetyltransferase, not providedBenign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV001177595
86.
GRCh37:
Chr11:108005541
GRCh38:
Chr11:108134814
ACAT1not providedBenign
(Aug 22, 2019)
criteria provided, single submitterVCV001261981
87.
GRCh37:
Chr11:108005621
GRCh38:
Chr11:108134894
ACAT1not providedBenign
(Aug 22, 2019)
criteria provided, single submitterVCV001288059
88.
GRCh37:
Chr11:108005888
GRCh38:
Chr11:108135161
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Aug 4, 2020)
criteria provided, single submitterVCV001145303
89.
GRCh37:
Chr11:108005888-108005889
GRCh38:
Chr11:108135161-108135162
ACAT1C119fsDeficiency of acetyl-CoA acetyltransferasePathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666475
90.
GRCh37:
Chr11:108005894
GRCh38:
Chr11:108135167
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Mar 4, 2019)
criteria provided, single submitterVCV001084846
91.
GRCh37:
Chr11:108005904
GRCh38:
Chr11:108135177
ACAT1K124EDeficiency of acetyl-CoA acetyltransferaseLikely pathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666476
92.
GRCh37:
Chr11:108005905
GRCh38:
Chr11:108135178
ACAT1K124RDeficiency of acetyl-CoA acetyltransferaseLikely pathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666477
93.
GRCh37:
Chr11:108005909
GRCh38:
Chr11:108135182
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Nov 10, 2020)
criteria provided, single submitterVCV001122988
94.
GRCh37:
Chr11:108005911
GRCh38:
Chr11:108135184
ACAT1C126SDeficiency of acetyl-CoA acetyltransferaseLikely pathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666478
95.
GRCh37:
Chr11:108005912
GRCh38:
Chr11:108135185
ACAT1Deficiency of acetyl-CoA acetyltransferaseConflicting interpretations of pathogenicity
(Jul 25, 2020)
criteria provided, conflicting interpretationsVCV000877557
96.
GRCh37:
Chr11:108005914
GRCh38:
Chr11:108135187
ACAT1A127VDeficiency of acetyl-CoA acetyltransferasePathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666479
97.
GRCh37:
Chr11:108005918
GRCh38:
Chr11:108135191
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Jun 24, 2020)
criteria provided, single submitterVCV000798721
98.
GRCh37:
Chr11:108005929
GRCh38:
Chr11:108135202
ACAT1A132GDeficiency of acetyl-CoA acetyltransferaseLikely pathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666480
99.
GRCh37:
Chr11:108005944-108005952
GRCh38:
Chr11:108135217-108135225
ACAT1S137fsDeficiency of acetyl-CoA acetyltransferaseLikely pathogenic
(Aug 25, 2019)
no assertion criteria providedVCV000800859
100.
GRCh37:
Chr11:108005947-108005948
GRCh38:
Chr11:108135220-108135221
ACAT1L140fsDeficiency of acetyl-CoA acetyltransferasePathogenic
(Jun 30, 2020)
criteria provided, multiple submitters, no conflictsVCV000666481
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