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Items: 1 to 100 of 345

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr11:107991928-107991929
GRCh38:
Chr11:108121201-108121202
ACAT1not providedBenign
(Jun 18, 2021)
criteria provided, single submitterVCV001272094
2.
GRCh37:
Chr11:107992264
GRCh38:
Chr11:108121537
ACAT1Deficiency of acetyl-CoA acetyltransferaseUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000302193
3.
GRCh37:
Chr11:107992306
GRCh38:
Chr11:108121579
ACAT1Deficiency of acetyl-CoA acetyltransferaseBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000302194
4.
GRCh37:
Chr11:107992312
GRCh38:
Chr11:108121585
ACAT1Deficiency of acetyl-CoA acetyltransferaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000302196
5.
GRCh37:
Chr11:107992312
GRCh38:
Chr11:108121585
ACAT1not provided, Deficiency of acetyl-CoA acetyltransferaseBenign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000302195
6.
GRCh37:
Chr11:107992319
GRCh38:
Chr11:108121592
ACAT1Deficiency of acetyl-CoA acetyltransferase, not specifiedBenign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflictsVCV000166648
7.
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
8.
GRCh37:
Chr11:107992329
GRCh38:
Chr11:108121602
ACAT1Deficiency of acetyl-CoA acetyltransferaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000880333
9.
GRCh37:
Chr11:107992334
GRCh38:
Chr11:108121607
ACAT1M1VDeficiency of acetyl-CoA acetyltransferasePathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666460
10.
GRCh37:
Chr11:107992335
GRCh38:
Chr11:108121608
ACAT1M1TDeficiency of acetyl-CoA acetyltransferasePathogenic
(Sep 13, 2020)
criteria provided, multiple submitters, no conflictsVCV000666461
11.
GRCh37:
Chr11:107992335
GRCh38:
Chr11:108121608
ACAT1M1KDeficiency of acetyl-CoA acetyltransferasePathogenic
(May 5, 2019)
criteria provided, single submitterVCV000002838
12.
GRCh37:
Chr11:107992338
GRCh38:
Chr11:108121611
ACAT1A2VDeficiency of acetyl-CoA acetyltransferaseUncertain significance
(Oct 5, 2020)
criteria provided, single submitterVCV001034848
13.
GRCh37:
Chr11:107992343
GRCh38:
Chr11:108121616
ACAT1L4VDeficiency of acetyl-CoA acetyltransferaseUncertain significance
(Jul 14, 2021)
criteria provided, single submitterVCV001195913
14.
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
15.
GRCh37:
Chr11:107992348
GRCh38:
Chr11:108121621
ACAT1Deficiency of acetyl-CoA acetyltransferaseUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000302197
16.
GRCh37:
Chr11:107992355
GRCh38:
Chr11:108121628
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Nov 25, 2020)
criteria provided, single submitterVCV001117423
17.
GRCh37:
Chr11:107992362
GRCh38:
Chr11:108121635
ACAT1S10NDeficiency of acetyl-CoA acetyltransferaseUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000302198
18.
GRCh37:
Chr11:107992367
GRCh38:
Chr11:108121640
ACAT1A12TDeficiency of acetyl-CoA acetyltransferaseUncertain significance
(Jan 31, 2019)
criteria provided, single submitterVCV000968668
19.
GRCh37:
Chr11:107992369
GRCh38:
Chr11:108121642
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Aug 5, 2020)
criteria provided, single submitterVCV001140212
20.
GRCh37:
Chr11:107992369
GRCh38:
Chr11:108121642
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Aug 14, 2020)
criteria provided, single submitterVCV001090301
21.
GRCh37:
Chr11:107992375
GRCh38:
Chr11:108121648
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Mar 31, 2020)
criteria provided, single submitterVCV001102395
22.
GRCh37:
Chr11:107992380-107992381
GRCh38:
Chr11:108121653-108121654
ACAT1L18fsDeficiency of acetyl-CoA acetyltransferasePathogenic
(Sep 23, 2020)
criteria provided, multiple submitters, no conflictsVCV000633029
23.
GRCh37:
Chr11:107992393
GRCh38:
Chr11:108121666
ACAT1not provided, Deficiency of acetyl-CoA acetyltransferaseConflicting interpretations of pathogenicity
(Nov 26, 2020)
criteria provided, conflicting interpretationsVCV000193031
24.
GRCh37:
Chr11:107992395-107992413
GRCh38:
Chr11:108121668-108121686
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely pathogenic
(May 7, 2019)
criteria provided, single submitterVCV000842676
25.
GRCh37:
Chr11:107992404
GRCh38:
Chr11:108121677
ACAT1Q24PDeficiency of acetyl-CoA acetyltransferaseUncertain significance
(Apr 11, 2020)
no assertion criteria providedVCV000990344
26.
GRCh37:
Chr11:107992415
GRCh38:
Chr11:108121688
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Nov 5, 2019)
criteria provided, single submitterVCV001120480
27.
GRCh37:
Chr11:108002445
GRCh38:
Chr11:108131718
ACAT1not providedBenign
(Aug 22, 2019)
criteria provided, single submitterVCV001237609
28.
GRCh37:
Chr11:108002640
GRCh38:
Chr11:108131913
ACAT1R27*Deficiency of acetyl-CoA acetyltransferasePathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666462
29.
GRCh37:
Chr11:108002642-108002643
GRCh38:
Chr11:108131915-108131916
ACAT1Y28fsDeficiency of acetyl-CoA acetyltransferasePathogenic
(Jun 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000666463
30.
GRCh37:
Chr11:108002644-108002645
GRCh38:
Chr11:108131917-108131918
ACAT1E30fsDeficiency of acetyl-CoA acetyltransferasePathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666464
31.
GRCh37:
Chr11:108002645
GRCh38:
Chr11:108131918
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Nov 3, 2020)
criteria provided, single submitterVCV001123610
32.
GRCh37:
Chr11:108002646
GRCh38:
Chr11:108131919
ACAT1V29Lnot providedUncertain significance
(Feb 18, 2016)
criteria provided, single submitterVCV000384097
33.
GRCh37:
Chr11:108002652
GRCh38:
Chr11:108131925
ACAT1R31Wnot providedUncertain significance
(Jun 6, 2013)
criteria provided, single submitterVCV000092300
34.
GRCh37:
Chr11:108002660
GRCh38:
Chr11:108131933
ACAT1Y33*Deficiency of acetyl-CoA acetyltransferasePathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666465
35.
GRCh37:
Chr11:108003055-108012264
GRCh38:
Chr11:108132328-108141537
ACAT1Deficiency of acetyl-CoA acetyltransferasePathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666536
36.
GRCh37:
Chr11:108004534
GRCh38:
Chr11:108133807
ACAT1Deficiency of acetyl-CoA acetyltransferasePathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666467
37.
GRCh37:
Chr11:108004544
GRCh38:
Chr11:108133817
ACAT1Deficiency of acetyl-CoA acetyltransferaseUncertain significance
(May 5, 2019)
criteria provided, single submitterVCV000666466
38.
GRCh37:
Chr11:108004552
GRCh38:
Chr11:108133825
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Mar 17, 2020)
criteria provided, single submitterVCV001126463
39.
GRCh37:
Chr11:108004557
GRCh38:
Chr11:108133830
ACAT1I44TDeficiency of acetyl-CoA acetyltransferaseLikely pathogenic
(Mar 6, 2021)
criteria provided, single submitterVCV001172772
40.
GRCh37:
Chr11:108004564
GRCh38:
Chr11:108133837
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Oct 20, 2020)
criteria provided, single submitterVCV001136849
41.
GRCh37:
Chr11:108004566
GRCh38:
Chr11:108133839
ACAT1A47VDeficiency of acetyl-CoA acetyltransferaseUncertain significance
(Nov 9, 2019)
criteria provided, single submitterVCV000958644
42.
GRCh37:
Chr11:108004575
GRCh38:
Chr11:108133848
ACAT1T50fsDeficiency of acetyl-CoA acetyltransferasePathogenic
(May 5, 2019)
criteria provided, single submitterVCV000208341
43.
GRCh37:
Chr11:108004581
GRCh38:
Chr11:108133854
ACAT1I52TDeficiency of acetyl-CoA acetyltransferaseUncertain significance
(Nov 8, 2019)
criteria provided, multiple submitters, no conflictsVCV000877555
44.
GRCh37:
Chr11:108004589-108004593
GRCh38:
Chr11:108133862-108133866
ACAT1Deficiency of acetyl-CoA acetyltransferaseConflicting interpretations of pathogenicity
(Dec 19, 2019)
criteria provided, conflicting interpretationsVCV000666468
45.
GRCh37:
Chr11:108004597
GRCh38:
Chr11:108133870
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Jun 21, 2020)
criteria provided, single submitterVCV000990345
46.
GRCh37:
Chr11:108004603
GRCh38:
Chr11:108133876
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Jun 20, 2020)
criteria provided, single submitterVCV001127766
47.
GRCh37:
Chr11:108004608-108004610
GRCh38:
Chr11:108133881-108133883
ACAT1L62delnot providedUncertain significance
(Nov 27, 2017)
criteria provided, single submitterVCV000618508
48.
GRCh37:
Chr11:108004618
GRCh38:
Chr11:108133891
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Jan 5, 2020)
criteria provided, single submitterVCV001117299
49.
GRCh37:
Chr11:108004629
GRCh38:
Chr11:108133902
ACAT1G68Vnot providedLikely pathogenic
(Mar 3, 2015)
criteria provided, single submitterVCV000196198
50.
GRCh37:
Chr11:108004644
GRCh38:
Chr11:108133917
ACAT1Q73PDeficiency of acetyl-CoA acetyltransferaseLikely pathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666469
51.
GRCh37:
Chr11:108004651
GRCh38:
Chr11:108133924
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Nov 10, 2020)
criteria provided, single submitterVCV001103428
52.
GRCh37:
Chr11:108004655
GRCh38:
Chr11:108133928
ACAT1E77KDeficiency of acetyl-CoA acetyltransferaseUncertain significance
(Jul 14, 2021)
criteria provided, single submitterVCV001195914
53.
GRCh37:
Chr11:108004655
GRCh38:
Chr11:108133928
ACAT1E77fsDeficiency of acetyl-CoA acetyltransferasePathogenic
(Jan 23, 2020)
criteria provided, single submitterVCV000942141
54.
GRCh37:
Chr11:108004656
GRCh38:
Chr11:108133929
ACAT1K78fsDeficiency of acetyl-CoA acetyltransferasePathogenic
(Jul 7, 2020)
criteria provided, single submitterVCV001073055
55.
GRCh37:
Chr11:108004672
GRCh38:
Chr11:108133945
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Jun 7, 2019)
criteria provided, single submitterVCV001086176
56.
GRCh37:
Chr11:108004681
GRCh38:
Chr11:108133954
ACAT1Deficiency of acetyl-CoA acetyltransferaseBenign
(Oct 30, 2020)
criteria provided, single submitterVCV001170067
57.
GRCh37:
Chr11:108004687
GRCh38:
Chr11:108133960
ACAT1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001263376
58.
GRCh37:
Chr11:108004798
GRCh38:
Chr11:108134071
ACAT1Deficiency of acetyl-CoA acetyltransferase, not providedBenign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV001177594
59.
GRCh37:
Chr11:108004928
GRCh38:
Chr11:108134201
ACAT1not providedBenign
(Jul 22, 2020)
criteria provided, single submitterVCV001292232
60.
GRCh37:
Chr11:108004940-108004941
GRCh38:
Chr11:108134213-108134214
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Feb 17, 2020)
criteria provided, single submitterVCV001103523
61.
GRCh37:
Chr11:108004940
GRCh38:
Chr11:108134213
ACAT1Deficiency of acetyl-CoA acetyltransferaseConflicting interpretations of pathogenicity
(Nov 27, 2020)
criteria provided, conflicting interpretationsVCV000732192
62.
GRCh37:
Chr11:108004941
GRCh38:
Chr11:108134214
ACAT1Deficiency of acetyl-CoA acetyltransferaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000877556
63.
GRCh37:
Chr11:108004957-108004959
GRCh38:
Chr11:108134230-108134232
ACAT1E85delDeficiency of acetyl-CoA acetyltransferaseConflicting interpretations of pathogenicity
(Dec 30, 2019)
criteria provided, conflicting interpretationsVCV000666470
64.
GRCh37:
Chr11:108004960
GRCh38:
Chr11:108134233
ACAT1E85fsDeficiency of acetyl-CoA acetyltransferasePathogenic
(Mar 6, 2021)
criteria provided, single submitterVCV001172774
65.
GRCh37:
Chr11:108004967-108004968
GRCh38:
Chr11:108134240-108134241
ACAT1E88fsDeficiency of acetyl-CoA acetyltransferasePathogenic
(Sep 10, 2020)
criteria provided, single submitterVCV001074893
66.
GRCh37:
Chr11:108004972
GRCh38:
Chr11:108134245
ACAT1E88ADeficiency of acetyl-CoA acetyltransferaseLikely pathogenic
(Mar 6, 2021)
criteria provided, single submitterVCV001172773
67.
GRCh37:
Chr11:108004973
GRCh38:
Chr11:108134246
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Feb 14, 2019)
criteria provided, single submitterVCV001140975
68.
GRCh37:
Chr11:108004976
GRCh38:
Chr11:108134249
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Oct 3, 2020)
criteria provided, single submitterVCV001128525
69.
GRCh37:
Chr11:108004976
GRCh38:
Chr11:108134249
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Oct 20, 2020)
criteria provided, single submitterVCV001114056
70.
GRCh37:
Chr11:108004983
GRCh38:
Chr11:108134256
ACAT1G92SDeficiency of acetyl-CoA acetyltransferaseUncertain significance
(Jan 9, 2019)
criteria provided, single submitterVCV000645647
71.
GRCh37:
Chr11:108004987
GRCh38:
Chr11:108134260
ACAT1N93SDeficiency of acetyl-CoA acetyltransferaseLikely pathogenic
(May 5, 2019)
criteria provided, single submitterVCV000002843
72.
GRCh37:
Chr11:108004995
GRCh38:
Chr11:108134268
ACAT1Q96*Deficiency of acetyl-CoA acetyltransferasePathogenic
(May 28, 2019)
criteria provided, multiple submitters, no conflictsVCV000666471
73.
GRCh37:
Chr11:108005000
GRCh38:
Chr11:108134273
ACAT1E5ADeficiency of acetyl-CoA acetyltransferaseLikely benign
(Sep 9, 2020)
criteria provided, single submitterVCV001149909
74.
GRCh37:
Chr11:108005000
GRCh38:
Chr11:108134273
ACAT1Deficiency of acetyl-CoA acetyltransferaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000302199
75.
GRCh37:
Chr11:108005008
GRCh38:
Chr11:108134281
ACAT1G100EDeficiency of acetyl-CoA acetyltransferaseUncertain significance
(May 5, 2019)
criteria provided, single submitterVCV000666472
76.
GRCh37:
Chr11:108005010
GRCh38:
Chr11:108134283
ACAT1Q101KDeficiency of acetyl-CoA acetyltransferaseUncertain significance
(May 5, 2019)
criteria provided, single submitterVCV000666473
77.
GRCh37:
Chr11:108005021
GRCh38:
Chr11:108134294
ACAT1Q12RDeficiency of acetyl-CoA acetyltransferaseLikely benign
(Apr 9, 2019)
criteria provided, single submitterVCV001159213
78.
GRCh37:
Chr11:108005034
GRCh38:
Chr11:108134307
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Sep 1, 2020)
criteria provided, single submitterVCV001144344
79.
GRCh37:
Chr11:108005039
GRCh38:
Chr11:108134312
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Mar 10, 2020)
criteria provided, single submitterVCV001135016
80.
GRCh37:
Chr11:108005044
GRCh38:
Chr11:108134317
ACAT1Deficiency of acetyl-CoA acetyltransferasePathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666474
81.
GRCh37:
Chr11:108005051
GRCh38:
Chr11:108134324
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Oct 5, 2019)
criteria provided, single submitterVCV001152919
82.
GRCh37:
Chr11:108005215
GRCh38:
Chr11:108134488
ACAT1Deficiency of acetyl-CoA acetyltransferase, not providedBenign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV001177595
83.
GRCh37:
Chr11:108005541
GRCh38:
Chr11:108134814
ACAT1not providedBenign
(Aug 22, 2019)
criteria provided, single submitterVCV001261981
84.
GRCh37:
Chr11:108005621
GRCh38:
Chr11:108134894
ACAT1not providedBenign
(Aug 22, 2019)
criteria provided, single submitterVCV001288059
85.
GRCh37:
Chr11:108005888
GRCh38:
Chr11:108135161
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Aug 4, 2020)
criteria provided, single submitterVCV001145303
86.
GRCh37:
Chr11:108005888-108005889
GRCh38:
Chr11:108135161-108135162
ACAT1C119fsDeficiency of acetyl-CoA acetyltransferasePathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666475
87.
GRCh37:
Chr11:108005894
GRCh38:
Chr11:108135167
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Mar 4, 2019)
criteria provided, single submitterVCV001084846
88.
GRCh37:
Chr11:108005904
GRCh38:
Chr11:108135177
ACAT1K124EDeficiency of acetyl-CoA acetyltransferaseLikely pathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666476
89.
GRCh37:
Chr11:108005905
GRCh38:
Chr11:108135178
ACAT1K124RDeficiency of acetyl-CoA acetyltransferaseLikely pathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666477
90.
GRCh37:
Chr11:108005909
GRCh38:
Chr11:108135182
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Nov 10, 2020)
criteria provided, single submitterVCV001122988
91.
GRCh37:
Chr11:108005911
GRCh38:
Chr11:108135184
ACAT1C126SDeficiency of acetyl-CoA acetyltransferaseLikely pathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666478
92.
GRCh37:
Chr11:108005912
GRCh38:
Chr11:108135185
ACAT1Deficiency of acetyl-CoA acetyltransferaseConflicting interpretations of pathogenicity
(Jul 25, 2020)
criteria provided, conflicting interpretationsVCV000877557
93.
GRCh37:
Chr11:108005914
GRCh38:
Chr11:108135187
ACAT1A127VDeficiency of acetyl-CoA acetyltransferasePathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666479
94.
GRCh37:
Chr11:108005918
GRCh38:
Chr11:108135191
ACAT1Deficiency of acetyl-CoA acetyltransferaseLikely benign
(Jun 24, 2020)
criteria provided, single submitterVCV000798721
95.
GRCh37:
Chr11:108005929
GRCh38:
Chr11:108135202
ACAT1A132GDeficiency of acetyl-CoA acetyltransferaseLikely pathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666480
96.
GRCh37:
Chr11:108005944-108005952
GRCh38:
Chr11:108135217-108135225
ACAT1S137fsDeficiency of acetyl-CoA acetyltransferaseLikely pathogenic
(Aug 25, 2019)
no assertion criteria providedVCV000800859
97.
GRCh37:
Chr11:108005947-108005948
GRCh38:
Chr11:108135220-108135221
ACAT1L140fsDeficiency of acetyl-CoA acetyltransferasePathogenic
(Jun 30, 2020)
criteria provided, multiple submitters, no conflictsVCV000666481
98.
GRCh37:
Chr11:108005952
GRCh38:
Chr11:108135225
ACAT1L140FDeficiency of acetyl-CoA acetyltransferaseUncertain significance
(Jun 30, 2020)
criteria provided, single submitterVCV001002823
99.
GRCh37:
Chr11:108005955
GRCh38:
Chr11:108135228
ACAT1M141Lnot providedUncertain significance
(Dec 1, 2018)
criteria provided, single submitterVCV000623788
100.
GRCh37:
Chr11:108005965
GRCh38:
Chr11:108135238
ACAT1H144PDeficiency of acetyl-CoA acetyltransferaseLikely pathogenic
(May 5, 2019)
criteria provided, single submitterVCV000666482
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