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Items: 1 to 100 of 140

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr3:43740565
GRCh38:
Chr3:43699073
ABHD5not providedLikely benign
(Jan 7, 2019)
criteria provided, single submitterVCV001205281
2.
GRCh37:
Chr3:43740764
GRCh38:
Chr3:43699272
ABHD5Triglyceride storage disease with ichthyosis, not providedConflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretationsVCV000748282
3.
GRCh37:
Chr3:43740818
GRCh38:
Chr3:43699326
ABHD5S33*Triglyceride storage disease with ichthyosisPathogenic
(Nov 1, 2001)
no assertion criteria providedVCV000005348
4.
GRCh37:
Chr3:43743510
GRCh38:
Chr3:43702018
ABHD5not providedBenign
(Jul 26, 2019)
criteria provided, single submitterVCV001270179
5.
GRCh37:
Chr3:43743705
GRCh38:
Chr3:43702213
ABHD5Triglyceride storage disease with ichthyosisPathogenic
(Nov 1, 2001)
no assertion criteria providedVCV000005349
6.
GRCh37:
Chr3:43743774
GRCh38:
Chr3:43702282
ABHD5K26N, K67NTriglyceride storage disease with ichthyosisUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000902780
7.
GRCh37:
Chr3:43743775
GRCh38:
Chr3:43702283
ABHD5F27L, F68Lnot provided, Triglyceride storage disease with ichthyosisBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000716845
8.
GRCh37:
Chr3:43743788
GRCh38:
Chr3:43702296
ABHD5I72T, I31Tnot provided, Triglyceride storage disease with ichthyosisBenign/Likely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000724878
9.
GRCh37:
Chr3:43743801
GRCh38:
Chr3:43702309
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000345217
10.
GRCh37:
Chr3:43743913
GRCh38:
Chr3:43702421
ABHD5R114*, R73*not providedPathogenic
(Feb 6, 2018)
criteria provided, single submitterVCV000523801
11.
GRCh37:
Chr3:43743914
GRCh38:
Chr3:43702422
ABHD5R114L, R73LTriglyceride storage disease with ichthyosis, not providedBenign/Likely benign
(Feb 14, 2021)
criteria provided, multiple submitters, no conflictsVCV000445947
12.
GRCh37:
Chr3:43743917
GRCh38:
Chr3:43702425
ABHD5S115N, S74NTriglyceride storage disease with ichthyosisUncertain significance
(Aug 7, 2018)
criteria provided, single submitterVCV000587418
13.
GRCh37:
Chr3:43743918
GRCh38:
Chr3:43702426
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000345218
14.
GRCh37:
Chr3:43743962
GRCh38:
Chr3:43702470
ABHD5Q130P, Q89PTriglyceride storage disease with ichthyosisPathogenic
(Jul 16, 2004)
no assertion criteria providedVCV000005350
15.
GRCh37:
Chr3:43743991
GRCh38:
Chr3:43702499
ABHD5C140G, C99GTriglyceride storage disease with ichthyosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000902781
16.
GRCh37:
Chr3:43744003
GRCh38:
Chr3:43702511
ABHD5Triglyceride storage disease with ichthyosis, not providedConflicting interpretations of pathogenicity
(Mar 30, 2018)
criteria provided, conflicting interpretationsVCV000345219
17.
GRCh37:
Chr3:43744017
GRCh38:
Chr3:43702525
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000900235
18.
GRCh37:
Chr3:43744062
GRCh38:
Chr3:43702570
ABHD5not providedLikely benign
(Oct 16, 2018)
criteria provided, single submitterVCV000792298
19.
GRCh37:
Chr3:43744174
GRCh38:
Chr3:43702682
ABHD5not providedLikely benign
(Mar 24, 2019)
criteria provided, single submitterVCV001198597
20.
GRCh37:
Chr3:43744368-43744373
GRCh38:
Chr3:43702876-43702881
ABHD5not providedBenign
(Nov 13, 2019)
criteria provided, single submitterVCV001276670
21.
GRCh37:
Chr3:43744408
GRCh38:
Chr3:43702916
ABHD5not providedBenign
(Mar 10, 2019)
criteria provided, single submitterVCV001233149
22.
GRCh37:
Chr3:43753244
GRCh38:
Chr3:43711752
ABHD5R143*, R184*Triglyceride storage disease with ichthyosisPathogenic
(Apr 1, 2020)
criteria provided, single submitterVCV000973467
23.
GRCh37:
Chr3:43753282-43753285
GRCh38:
Chr3:43711790-43711793
ABHD5W197fs, W156fsnot providedPathogenic
(Apr 30, 2018)
criteria provided, single submitterVCV000524159
24.
GRCh37:
Chr3:43753285
GRCh38:
Chr3:43711793
ABHD5W197*, W156*not providedLikely pathogenic
(Jul 10, 2018)
criteria provided, single submitterVCV000620267
25.
GRCh37:
Chr3:43753287-43753288
GRCh38:
Chr3:43711795-43711796
ABHD5R199fs, R158fsTriglyceride storage disease with ichthyosisPathogenic
(Nov 1, 2001)
no assertion criteria providedVCV000005352
26.
GRCh37:
Chr3:43753334
GRCh38:
Chr3:43711842
ABHD5L214I, L173ITriglyceride storage disease with ichthyosisUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000345220
27.
GRCh37:
Chr3:43756429
GRCh38:
Chr3:43714937
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000345221
28.
GRCh37:
Chr3:43756492
GRCh38:
Chr3:43715000
ABHD5M239V, M198Vnot providedUncertain significance
(Jan 5, 2017)
criteria provided, single submitterVCV000392179
29.
GRCh37:
Chr3:43756506-43756507
GRCh38:
Chr3:43715014-43715015
ABHD5T203fs, T244fsnot provided, Triglyceride storage disease with ichthyosisPathogenic/Likely pathogenic
(May 1, 2018)
criteria provided, multiple submitters, no conflictsVCV000872540
30.
GRCh37:
Chr3:43756577-43756578
GRCh38:
Chr3:43715085-43715086
ABHD5not providedBenign
(Aug 13, 2019)
criteria provided, single submitterVCV001281882
31.
GRCh37:
Chr3:43756577-43756578
GRCh38:
Chr3:43715085-43715086
ABHD5not providedBenign
(Aug 13, 2019)
criteria provided, single submitterVCV001274988
32.
GRCh37:
Chr3:43756577-43756578
GRCh38:
Chr3:43715085-43715086
ABHD5not providedBenign
(Sep 7, 2019)
criteria provided, single submitterVCV001248826
33.
GRCh37:
Chr3:43756577-43756578
GRCh38:
Chr3:43715085-43715086
ABHD5not providedLikely benign
(Sep 7, 2019)
criteria provided, single submitterVCV001200323
34.
GRCh37:
Chr3:43756577-43756578
GRCh38:
Chr3:43715085-43715086
ABHD5not providedLikely benign
(Nov 13, 2019)
criteria provided, single submitterVCV001199929
35.
GRCh37:
Chr3:43756578-43756581
GRCh38:
Chr3:43715086-43715089
ABHD5not providedBenign
(Oct 13, 2019)
criteria provided, single submitterVCV001272230
36.
GRCh37:
Chr3:43756611-43756612
GRCh38:
Chr3:43715119-43715120
ABHD5not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001239128
37.
GRCh37:
Chr3:43756645-43756648
GRCh38:
Chr3:43715153-43715156
ABHD5not providedBenign
(Sep 26, 2018)
criteria provided, single submitterVCV001295675
38.
GRCh37:
Chr3:43758867
GRCh38:
Chr3:43717375
ABHD5not providedLikely benign
(Jun 18, 2018)
criteria provided, single submitterVCV000673915
39.
GRCh37:
Chr3:43759156
GRCh38:
Chr3:43717664
ABHD5not providedLikely benign
(Apr 7, 2018)
criteria provided, single submitterVCV000747508
40.
GRCh37:
Chr3:43759162
GRCh38:
Chr3:43717670
ABHD5Triglyceride storage disease with ichthyosisPathogenic
(Nov 1, 2001)
no assertion criteria providedVCV000005347
41.
GRCh37:
Chr3:43759167
GRCh38:
Chr3:43717675
ABHD5E260K, E219KTriglyceride storage disease with ichthyosisPathogenic
(Jul 16, 2004)
no assertion criteria providedVCV000005353
42.
GRCh37:
Chr3:43759195
GRCh38:
Chr3:43717703
ABHD5P269L, P228LTriglyceride storage disease with ichthyosisUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000345222
43.
GRCh37:
Chr3:43759199
GRCh38:
Chr3:43717707
ABHD5Y229*, Y270*Triglyceride storage disease with ichthyosisPathogenic
(Jul 29, 2020)
criteria provided, single submitterVCV000977526
44.
GRCh37:
Chr3:43759200
GRCh38:
Chr3:43717708
ABHD5G230R, G271RTriglyceride storage disease with ichthyosisPathogeniccriteria provided, single submitterVCV000812597
45.
GRCh37:
Chr3:43759225
GRCh38:
Chr3:43717733
ABHD5Q238fs, Q279fsTriglyceride storage disease with ichthyosisLikely pathogenicno assertion criteria providedVCV000996655
46.
GRCh37:
Chr3:43759274
GRCh38:
Chr3:43717782
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000345223
47.
GRCh37:
Chr3:43759295
GRCh38:
Chr3:43717803
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000345224
48.
GRCh37:
Chr3:43759323
GRCh38:
Chr3:43717831
ABHD5R312*, R271*Triglyceride storage disease with ichthyosisPathogeniccriteria provided, single submitterVCV000619125
49.
GRCh37:
Chr3:43759538
GRCh38:
Chr3:43718046
ABHD5not providedLikely benign
(Feb 1, 2021)
criteria provided, single submitterVCV001254771
50.
GRCh37:
Chr3:43759920
GRCh38:
Chr3:43718428
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000900236
51.
GRCh37:
Chr3:43759958
GRCh38:
Chr3:43718466
ABHD5M266TTriglyceride storage disease with ichthyosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000900237
52.
GRCh37:
Chr3:43759999
GRCh38:
Chr3:43718507
ABHD5K342R, K301RTriglyceride storage disease with ichthyosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000345225
53.
GRCh37:
Chr3:43760053
GRCh38:
Chr3:43718561
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000345226
54.
GRCh37:
Chr3:43760062
GRCh38:
Chr3:43718570
ABHD5Triglyceride storage disease with ichthyosisBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000345227
55.
GRCh37:
Chr3:43760081
GRCh38:
Chr3:43718589
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000901386
56.
GRCh37:
Chr3:43760120
GRCh38:
Chr3:43718628
ABHD5Triglyceride storage disease with ichthyosisLikely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000901387
57.
GRCh37:
Chr3:43760149
GRCh38:
Chr3:43718657
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000345228
58.
GRCh37:
Chr3:43760178
GRCh38:
Chr3:43718686
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000901388
59.
GRCh37:
Chr3:43760251
GRCh38:
Chr3:43718759
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000901389
60.
GRCh37:
Chr3:43760305
GRCh38:
Chr3:43718813
ABHD5not provided, Triglyceride storage disease with ichthyosisBenign
(Jun 28, 2018)
criteria provided, multiple submitters, no conflictsVCV000345229
61.
GRCh37:
Chr3:43760326
GRCh38:
Chr3:43718834
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000345230
62.
GRCh37:
Chr3:43760416
GRCh38:
Chr3:43718924
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000901942
63.
GRCh37:
Chr3:43760488
GRCh38:
Chr3:43718996
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000901943
64.
GRCh37:
Chr3:43760731
GRCh38:
Chr3:43719239
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000345231
65.
GRCh37:
Chr3:43760872
GRCh38:
Chr3:43719380
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000901944
66.
GRCh37:
Chr3:43760903
GRCh38:
Chr3:43719411
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000345232
67.
GRCh37:
Chr3:43760940
GRCh38:
Chr3:43719448
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000901945
68.
GRCh37:
Chr3:43761033
GRCh38:
Chr3:43719541
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000345233
69.
GRCh37:
Chr3:43761035
GRCh38:
Chr3:43719543
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000345234
70.
GRCh37:
Chr3:43761100
GRCh38:
Chr3:43719608
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000902842
71.
GRCh37:
Chr3:43761134
GRCh38:
Chr3:43719642
ABHD5Triglyceride storage disease with ichthyosisBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000345235
72.
GRCh37:
Chr3:43761225
GRCh38:
Chr3:43719733
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000345236
73.
GRCh37:
Chr3:43761289
GRCh38:
Chr3:43719797
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000345237
74.
GRCh37:
Chr3:43761369-43761371
GRCh38:
Chr3:43719877-43719879
ABHD5Triglyceride storage disease with ichthyosisBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000345238
75.
GRCh37:
Chr3:43761395
GRCh38:
Chr3:43719903
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000345239
76.
GRCh37:
Chr3:43761441
GRCh38:
Chr3:43719949
ABHD5Triglyceride storage disease with ichthyosisBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000345240
77.
GRCh37:
Chr3:43761490
GRCh38:
Chr3:43719998
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000345241
78.
GRCh37:
Chr3:43761509
GRCh38:
Chr3:43720017
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000900284
79.
GRCh37:
Chr3:43761561
GRCh38:
Chr3:43720069
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000900285
80.
GRCh37:
Chr3:43761590
GRCh38:
Chr3:43720098
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000345242
81.
GRCh37:
Chr3:43761592
GRCh38:
Chr3:43720100
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000345243
82.
GRCh37:
Chr3:43761620
GRCh38:
Chr3:43720128
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000900286
83.
GRCh37:
Chr3:43761637
GRCh38:
Chr3:43720145
ABHD5Triglyceride storage disease with ichthyosisBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000345244
84.
GRCh37:
Chr3:43761686
GRCh38:
Chr3:43720194
ABHD5Triglyceride storage disease with ichthyosisBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000345245
85.
GRCh37:
Chr3:43761753
GRCh38:
Chr3:43720261
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000345246
86.
GRCh37:
Chr3:43761780
GRCh38:
Chr3:43720288
ABHD5Triglyceride storage disease with ichthyosisBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000345247
87.
GRCh37:
Chr3:43761781
GRCh38:
Chr3:43720289
ABHD5Triglyceride storage disease with ichthyosisBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000345248
88.
GRCh37:
Chr3:43761782-43761783
GRCh38:
Chr3:43720290-43720291
ABHD5Triglyceride storage disease with ichthyosisLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000345249
89.
GRCh37:
Chr3:43761858
GRCh38:
Chr3:43720366
ABHD5Triglyceride storage disease with ichthyosisBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000345250
90.
GRCh37:
Chr3:43761883
GRCh38:
Chr3:43720391
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000345251
91.
GRCh37:
Chr3:43761887
GRCh38:
Chr3:43720395
ABHD5Triglyceride storage disease with ichthyosisBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000345252
92.
GRCh37:
Chr3:43761919
GRCh38:
Chr3:43720427
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000345253
93.
GRCh37:
Chr3:43761957
GRCh38:
Chr3:43720465
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000345254
94.
GRCh37:
Chr3:43761981
GRCh38:
Chr3:43720489
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000345255
95.
GRCh37:
Chr3:43762072
GRCh38:
Chr3:43720580
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000902011
96.
GRCh37:
Chr3:43762081
GRCh38:
Chr3:43720589
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000345256
97.
GRCh37:
Chr3:43762088
GRCh38:
Chr3:43720596
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000345257
98.
GRCh37:
Chr3:43762123
GRCh38:
Chr3:43720631
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000902012
99.
GRCh37:
Chr3:43762133
GRCh38:
Chr3:43720641
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000902013
100.
GRCh37:
Chr3:43762152
GRCh38:
Chr3:43720660
ABHD5Triglyceride storage disease with ichthyosisUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000902014
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